Mutation Concept

subject area of

• 2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS  Journal Articles
• BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50  Journal Articles
• Caenorhabditis elegansHistone Deacetylasehda-1Is Required for Morphogenesis of the Vulva and LIN-12/Notch-Mediated Specification of Uterine Cell Fates  Journal Articles
• DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?  Journal Articles
• DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome  Journal Articles
• GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects  Journal Articles
• IRAK-4 Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells  Journal Articles
• Id2gene is a transcriptional target of the protein complex mutant p53/E2F1  Journal Articles
• KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures  Journal Articles
• RUNX1 mutation in a patient with myelodysplastic syndrome and decreased erythrocyte expression of blood group A antigen  Journal Articles
• SalmonellaProduces an O-Antigen Capsule Regulated by AgfD and Important for Environmental Persistence  Journal Articles
• Sinorhizobium meliloti phospholipase C required for lipid remodeling during phosphorus limitation  Journal Articles
• ampCgene expression in promoter mutants of cefoxitin-resistantEscherichia coliclinical isolates  Journal Articles
• COL4A2‐Related Disorder Presenting in Adulthood With Rhabdomyolysis  Journal Articles
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Journal Articles
• YAP enhances the pro‐proliferative transcriptional activity of mutant p53 proteins  Journal Articles
• A Conserved African Swine Fever Virus IκB Homolog, 5EL, Is Nonessential for Growthin Vitroand Virulence in Domestic Swine  Journal Articles
• A Deoxyribozyme with a Novel Guanine Quartet-Helix Pseudoknot Structure  Journal Articles
• A Euglena mutant resistant to n-methyl-n-nitroso-p- toluenesulfonamide.  Journal Articles
• A Highly Dynamic Loop of the Pseudomonas aeruginosa PA14 Type IV Pilin Is Essential for Pilus Assembly  Journal Articles
• A Highly Unstable Recent Mutation in Human mtDNA  Journal Articles
• A Mendelian Randomization-Based Approach to Identify Early and Sensitive Diagnostic Biomarkers of Disease  Journal Articles
• A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy  Journal Articles
• A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems  Journal Articles
• A Mutation in the Intracellular Loop III/IV of Mosquito Sodium Channel Synergizes the Effect of Mutations in Helix IIS6 on Pyrethroid Resistance  Journal Articles
• A New Case of the Unstable Haemoglobin Genova(α₂β₂28(β 10)Leu→Pro) in Canada: As a Result of Sporadic Mutation and Causing Heinz Body Haemolytic Anaemia  Journal Articles
• A New Mutation in the Thyroid Hormone Receptor (TR) β Gene (V458A) in a Family with Resistance to Thyroid Hormone (RTH)  Journal Articles
• A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report  Journal Articles
• A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog  Journal Articles
• A Novel Sickling Hemoglobinopathy  Journal Articles
• A PIK3CA-mutant breast cancer metastatic patient-derived organoid approach to evaluate alpelisib treatment for multiple secondary lesions  Journal Articles
• A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus  Journal Articles
• A Phase II Study of Neoadjuvant Opnurasib KRAS G12C Inhibitor in Patients With Surgically Resectable Non-Small Cell Lung Cancer (CCTG IND.242A): A Substudy of the IND.242 Platform Master Protocol.  Journal Articles
• A Poor Prognostic ALK Phenotype: A Review of Molecular Markers of Poor Prognosis in ALK Rearranged Nonsmall Cell Lung Cancer.  Journal Articles
• A Population Genetics Model for Multiple Quantitative Traits Exhibiting Pleiotropy and Epistasis  Journal Articles
• A Population-Based Study of Dystrophin Mutations in Canada  Journal Articles
• A Role of p73 in Mitotic Exit  Journal Articles
• A Single Amino Acid Change in the Response Regulator PhoP, Acquired during Yersinia pestis Evolution, Affects PhoP Target Gene Transcription and Polymyxin B Susceptibility  Journal Articles
• A Sinorhizobium meliloti minE mutant has an altered morphology and exhibits defects in legume symbiosis  Journal Articles
• A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F  Journal Articles
• A Thiolate Anion Buried within the Hydrocarbon Ruler Perturbs PagP Lipid Acyl Chain Selection  Journal Articles
• A Unified Model of Codon Reassignment in Alternative Genetic Codes  Journal Articles
• A cell-specific regulatory region of the human ABO blood group gene regulates the neighborhood gene encoding odorant binding protein 2B  Journal Articles
• A cytosolic herpes simplex virus protein inhibits antigen presentation to CD8+ T lymphocytes  Journal Articles
• A divergent Pseudomonas aeruginosa palmitoyltransferase essential for cystic fibrosis‐specific lipid A  Journal Articles
• A doubtful relationship between tyrosine tRNA and suppression of the vermilion mutant in Drosophila  Journal Articles
• A guide for the performance of the Chinese hamster ovary cell/hypoxanthine-guanine phosphoribosyl transferase gene mutation assay  Journal Articles
• A high-throughput protocol for isolating cell-free circulating tumor DNA from peripheral blood.  Journal Articles
• A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders  Journal Articles
• A lacZ transgenic mouse assay for the detection of mutations in follicular granulosa cells  Journal Articles
• A minimal gene set characterizes TIL specific for diverse tumor antigens across different cancer types.  Journal Articles
• A molecular genetic study of factor XI deficiency  Journal Articles
• A multiplexable assay for screening antibiotic lethality against drug-tolerant bacteria  Journal Articles
• A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations  Journal Articles
• A myogenic motor pattern in mice lacking myenteric interstitial cells of Cajal explained by a second coupled oscillator network  Journal Articles
• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2  Journal Articles
• A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction  Journal Articles
• A novel function for the competence inducing peptide, XIP, as a cell death effector ofStreptococcus mutans  Journal Articles
• A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease  Journal Articles
• A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene  Journal Articles
• A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features  Journal Articles
• A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome  Journal Articles
• A p75 tumor necrosis factor receptor-specific mutant of murine tumor necrosis factor α expressed from an adenovirus vector induces an antitumor response with reduced toxicity  Journal Articles
• A phase I/II study of sorafenib in combination with low dose cytarabine in elderly patients with acute myeloid leukemia or high-risk myelodysplastic syndrome from the National Cancer Institute of Canada Clinical Trials Group: trial IND.186  Journal Articles
• A plasmid vehicle suitable for the molecular cloning and characterization of mammalian promoters  Journal Articles
• A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic datasets  Journal Articles
• A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL  Journal Articles
• A putative Lipid Transfer Protein involved in systemic resistance signaling in Arabidopsis  Journal Articles
• A randomized phase II study of cediranib alone versus cediranib in combination with dasatinib in docetaxel resistant, castration resistant prostate cancer patients  Journal Articles
• A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia  Journal Articles
• A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy  Journal Articles
• A shotgun lipidomics approach in Sinorhizobium meliloti as a tool in functional genomics  Journal Articles
• A shotgun lipidomics study of a putative lysophosphatidic acid acyl transferase (PlsC) in Sinorhizobium meliloti  Journal Articles
• A simple technique for the rescue of early region I mutations into infectious human adenovirus type 5  Journal Articles
• A single institution study evaluating outcomes of PD-L1 high KRAS-mutant advanced non-small cell lung cancer (NSCLC) patients treated with first line immune checkpoint inhibitors  Journal Articles
• A source of small repeats in genomic DNA.  Journal Articles
• A standardised method for interpreting the association between mutations and phenotypic drug resistance inMycobacterium tuberculosis  Journal Articles
• A targeted mutation in the murine gene encoding the high density lipoprotein (HDL) receptor scavenger receptor class B type I reveals its key role in HDL metabolism  Journal Articles
• A transgenic mouse model demonstrating the oncogenic role of mutations in the polycomb-group gene EZH2 in lymphomagenesis  Journal Articles
• A unique BRCA1 mutation identified in Mongolia  Journal Articles
• A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β⁰‐thalassaemia homozygotes  Journal Articles
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Journal Articles
• ALK-negative CNS anaplastic large cell lymphoma: case report and review of literature  Journal Articles
• AMPK-Dependent Inhibitory Phosphorylation of ACC Is Not Essential for Maintaining Myocardial Fatty Acid Oxidation  Journal Articles
• ATM regulates proteasome-dependent subnuclear localization of TRF1, which is important for telomere maintenance  Journal Articles
• Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes  Journal Articles
• Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas  Journal Articles
• Absence of gene amplification in human cell mutants resistant to cardiac glycosides  Journal Articles
• Access and Binding of Local Anesthetics in the Closed Sodium Channel  Journal Articles
• Achondroplasia–hypochondroplasia complex in a newborn infant  Journal Articles
• Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers  Journal Articles
• Action of Nitrofurans on E. Coli  Journal Articles
• Activated MKK3/MYC crosstalk impairs dabrafenib response in BRAFV600E colorectal cancer leading to resistance  Journal Articles
• Activated protein C resistance and low molecular weight lipoprotein (a): dual pathogens for atherothrombosis?  Journal Articles
• Activating AKT1 and PIK3CA Mutations in Metastatic Castration-Resistant Prostate Cancer  Journal Articles
• Activity of a transfer RNA modifying enzyme during the development of Drosophila and its relationship to the su(s) locus  Journal Articles
• Adaptation in bacterial CRISPR-Cas immunity can be driven by defective phages  Journal Articles
• Adenosine Kinase Deficiency Is Associated with Developmental Abnormalities and Reduced Transmethylation  Journal Articles
• Adenosine‐AMP exchange activity is an integral part of the mammalian adenosine kinase  Journal Articles
• Age and Sex Differences in the Genetics of Cardiomyopathy  Journal Articles
• Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Age-Related Resistance in Arabidopsis Is a Developmentally Regulated Defense Response to Pseudomonas syringae  Journal Articles
• Age-Related Resistance inArabidopsis thalianaInvolves the MADS-Domain Transcription Factor SHORT VEGETATIVE PHASE and Direct Action of Salicylic Acid onPseudomonas syringae  Journal Articles
• Alanine to valine substitutions in the pore helix IIIP1 and linker-helix IIIL45 confer cockroach sodium channel resistance to DDT and pyrethroids  Journal Articles
• Allelic variants of the amylose extender mutation of maize demonstrate phenotypic variation in starch structure resulting from modified protein-protein interactions  Journal Articles
• Alpha-thalassaemia and population health in Southeast Asia  Journal Articles
• Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2  Journal Articles
• Altering Heparin Cofactor II at VAL439 (P6) either Impairs Inhibition of Thrombin or Confers Elastase Resistance  Journal Articles
• Amaranth suppresses the mutagenicity of 2-acetylaminofluorene by lowering the concentration of nadph in top agar  Journal Articles
• Amber, ochre and opal suppressor tRNA genes derived from a human serine tRNA gene.  Journal Articles
• Amino Acid Substitutions in the Herpes Simplex Virus Transactivator VP16 Uncouple Direct Protein-Protein Interaction and DNA Binding from Complex Assembly and Transactivation  Journal Articles
• Ammonia excretion in Caenorhabditis elegans: Physiological and molecular characterization of the rhr-2 knock-out mutant  Journal Articles
• Amyloid-Driven Allostery.  Journal Articles
• An msbB Homologue Carried in Plasmid pO157 Encodes an Acyltransferase Involved in Lipid A Biosynthesis in Escherichia coli O157:H7  Journal Articles
• An ABC-Type Cobalt Transport System Is Essential for Growth of Sinorhizobium melilotiat Trace Metal Concentrations  Journal Articles
• An Alternative Formulation for a Distributed Delayed Logistic Equation  Journal Articles
• An Intact Intermediate Filament Network Is Required for Collateral Sprouting of Small Diameter Nerve Fibers  Journal Articles
• An Updated Review on the Clinicopathologic Aspects of Arrhythmogenic Right Ventricular Cardiomyopathy An Updated Review on the Clinicopathologic Aspects of Arrhythmogenic Right Ventricular Cardiomyopathy.  Journal Articles
• An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13  Journal Articles
• An electron spin resonance study of oxyradical generation in superoxide dismutase- and catalase-deficient mutants of Escherichia coli K-12  Journal Articles
• An evaluation of memory and attention in BRCA mutation carriers using an online cognitive assessment tool  Journal Articles
• An important role for the activation peptide domain in controlling factor IX levels in the blood of haemophilia B mice  Conferences
• An inducible mammalian amber suppressor: Propagation of a poliovirus mutant  Journal Articles
• An unusual eukaryotic protein phosphatase required for transcription by RNA polymerase II and CTD dephosphorylation in S. cerevisiae.  Journal Articles
• Analysis of C₄‐dicarboxylate transport genes in Rhizobium meliloti  Journal Articles
• Analysis of IFT74as a candidate gene for chromosome 9p-linked ALS-FTD  Journal Articles
• Analysis of purified Wild type and mutant adenovirus particles by SILAC based quantitative proteomics  Journal Articles
• Analysis of tRNAs during the development of Drosophila  Journal Articles
• Analysis of the Contribution of Salmonella Pathogenicity Islands 1 and 2 to Enteric Disease Progression Using a Novel Bovine Ileal Loop Model and a Murine Model of Infectious Enterocolitis  Journal Articles
• Analysis of the cleavage site specificity of the endopeptidase involved in the maturation of the large subunit of hydrogenase 3 from Escherichia coli  Journal Articles
• Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer  Journal Articles
• Analysis of the transcarbamoylation‐dehydration reaction catalyzed by the hydrogenase maturation proteins HypF and HypE  Journal Articles
• Antithrombin III‐Amiens: A new family with an Arg⁴⁷ → cys inherited variant of antithrombin iii with impaired heparin cofactor activity  Journal Articles
• Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity  Journal Articles
• Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity  Journal Articles
• Apoptosis and other effects of radiation in normal human urothelial cells  Journal Articles
• Assay of HIV gp41 amino acid sequence to identify baseline variation and mutation development in patients with virologic failure on enfuvirtide☆  Journal Articles
• Assessing non-Mendelian inheritance in inherited axonopathies  Journal Articles
• Assessing the Risk of Progression to Kidney Failure in Patients With Autosomal Dominant Polycystic Kidney Disease  Journal Articles
• Assigning a probability for paternity in apparent cases of mutation.  Journal Articles
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Journal Articles
• Association between Locoregional Failure and NFE2L2/KEAP1/CUL3 Mutations in NRG/RTOG 9512: A Randomized Trial of Radiation Fractionation in T2N0 Glottic Cancer.  Journal Articles
• Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders  Journal Articles
• Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3  Journal Articles
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Journal Articles
• Astrocytes Prevent Abnormal Neuronal Development in the Fragile X Mouse  Journal Articles
• Asymptotic rates of growth of the extinction probability of a mutant gene  Journal Articles
• Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience  Journal Articles
• Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation  Journal Articles
• Atypical Polycystic Kidney Disease as defined by Imaging  Journal Articles
• Atypical Teratoid Rhabdoid Tumors (ATRTs): The British Columbia's Children's Hospital's Experience, 1986–2006  Journal Articles
• Autism associated mutations in β2 subunit of voltage-gated calcium channels constitutively activate gene expression  Journal Articles
• Autoradiographic detection of diphtheria toxin resistant mutants in human diploid fibroblasts  Journal Articles
• Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort  Journal Articles
• BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes  Journal Articles
• BRCA1, BRCA2 and breast cancer: a concise clinical review.  Journal Articles
• BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays  Journal Articles
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Journal Articles
• Bax Forms an Oligomer via Separate, Yet Interdependent, Surfaces  Journal Articles
• Bax forms multispanning monomers that oligomerize to permeabilize membranes during apoptosis  Journal Articles
• Behavioral characterization and genetic analysis of the Drosophila melanogaster larval response to light as revealed by a novel individual assay.  Journal Articles
• Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation  Journal Articles
• Beyond the Brain  Journal Articles
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Journal Articles
• Bilateral Oophorectomy and All-Cause Mortality in Women With BRCA1 and BRCA2 Sequence Variations  Journal Articles
• Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal  Journal Articles
• Binding of basal transcription factor TFIIH to the acidic activation domains of VP16 and p53.  Journal Articles
• Biofilm Formation by Hyperpiliated Mutants of Pseudomonas aeruginosa  Journal Articles
• Biology and patterns of response to EGFR-inhibition in squamous cell cancers of the lung and head & neck  Journal Articles
• Biosynthesis of Vitamin B ₆ : Incorporation of Three-Carbon Units  Journal Articles
• Biosynthesis of Vitamin B6  Journal Articles
• Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)  Journal Articles
• Bone marrow‐derived mitochondrial DNA has limited capacity for inter‐tissue transfer in vivo  Journal Articles
• Breakage of bacterial DNA by nitrofuran derivatives.  Journal Articles
• Breast and ovarian cancer risk perception after prophylactic salpingo‐oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene  Journal Articles
• Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer  Journal Articles
• Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers  Journal Articles
• Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation  Journal Articles
• Brief Report: Human Acute Myeloid Leukemia Reprogramming to Pluripotency Is a Rare Event and Selects for Patient Hematopoietic Cells Devoid of Leukemic Mutations  Journal Articles
• Bystander Effects in Repair-Deficient Cell Lines  Journal Articles
• CALRETICULIN MUTATION ASSOCIATED WITH BILATERAL CENTRAL RETINAL VEIN OCCLUSION IN A YOUNG WOMAN.  Journal Articles
• CFTR2: How will it help care?  Journal Articles
• CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions  Journal Articles
• CORRIGENDUM  Journal Articles
• CYB5D2 displays tumor suppression activities towards cervical cancer  Journal Articles
• CYFIP/Sra-1 Controls Neuronal Connectivity in Drosophila and Links the Rac1 GTPase Pathway to the Fragile X Protein  Journal Articles
• Caloric restriction transiently improves motor performance but hastens clinical onset of disease in the Cu/Zn‐superoxide dismutase mutant G93A mouse  Journal Articles
• Camptothecin-resistant mutants of Chinese hamster ovary cells containing a resistant form of topoisomerase I.  Journal Articles
• Can activated recombinant factor VII be used to postpone the exposure of infants to factor VIII until after 2 years of age?  Journal Articles
• Canadian Consensus for Treatment of BRAF V600E Mutated Pediatric and AYA Gliomas  Journal Articles
• Cancer phenomics: RET and PTEN as illustrative models  Journal Articles
• Capacity of UV‐lrradiated Human Fibroblasts to Support Adenovirus DNA Synthesis Correlates with Transcription‐Coupled Repair and is Reduced in SV40‐Transformed Cells and Cells Expressing Mutant p53  Journal Articles
• Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims  Journal Articles
• Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy  Journal Articles
• Carrier detection strategy in haemophilia A: the benefits of combined DNA marker analysis and coagulation testing in sporadic haemophilic families  Journal Articles
• Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans  Journal Articles
• Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations  Journal Articles
• Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis  Journal Articles
• Cell Wall Hydrolases Affect Germination, Vegetative Growth, and Sporulation in Streptomyces coelicolor  Journal Articles
• Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure  Journal Articles
• Cerebrolysin modulates pronerve growth factor/nerve growth factor ratio and ameliorates the cholinergic deficit in a transgenic model of Alzheimer's disease  Journal Articles
• Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study  Journal Articles
• Challenges to Implementation of an Epidermal Growth Factor Receptor Testing Strategy for Non–Small-Cell Lung Cancer in a Publicly Funded Health Care System  Journal Articles
• Changes in rat and human pepsinogen phenotypes induced by N′-methyl-N′nitro-n-nitrosoguanidine  Journal Articles
• Changes in the Ultraviolet Sensitivity of Escherichia coli During Growth in Batch Cultures  Journal Articles
• Characterization of DalS, an ATP-binding Cassette Transporter for d-Alanine, and Its Role in Pathogenesis in Salmonella enterica  Journal Articles
• Characterization of Human TK- Cell Lines Transformed to a TK+ Phenotype by Herpes Simplex Virus Type 2 DNA  Journal Articles
• Characterization of Mutational Status, Spheroid Formation, and Drug Response of a New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105C  Journal Articles
• Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles  Journal Articles
• Characterization of a Mouse Model for Thrombomodulin Deficiency  Journal Articles
• Characterization of a catalytically efficient acidic RNA-cleaving deoxyribozyme  Journal Articles
• Characterization of a variant of human adenovirus type 2 which multiples efficiently in simian cells  Journal Articles
• Characterization of an adenovirus type 5 mutant carrying embedded inverted terminal repeats  Journal Articles
• Characterization of an inducible vancomycin resistance system in Streptomyces coelicolor reveals a novel gene (vanK) required for drug resistance  Journal Articles
• Characterization of human adenovirus type 5 early region 1A polypeptides using antitumor sera and an antiserum specific for the carboxy terminus  Journal Articles
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1  Journal Articles
• Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA  Journal Articles
• Characterization of nickel-induced mutations  Journal Articles
• Characterization of the Bacillus subtilis GTPase YloQ and its role in ribosome function  Journal Articles
• Characterization of the Rhizobium (Sinorhizobium) meliloti high- and low-affinity phosphate uptake systems  Journal Articles
• Characterization of the β-Ketoadipate Pathway inSinorhizobium meliloti  Journal Articles
• Characterization of two kdr mutations at predicted pyrethroid receptor site 2 in the sodium channels of Aedes aegypti and Nilaparvata lugens  Journal Articles
• Characterizing responses to gamma radiation by a highly clonogenic fish brain endothelial cell line  Journal Articles
• Characterizing the Secondary Structure and Identifying Functionally Essential Nucleotides of pH6DZ1, a Fluorescence-Signaling and RNA-Cleaving Deoxyribozyme  Journal Articles
• Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.  Journal Articles
• Chemical Evolution and the Evolutionary Definition of Life  Journal Articles
• Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis  Journal Articles
• Chloramphenicol damages bacterial DNA  Journal Articles
• Chloroplast Mutagenesis: Effect of N -Methyl- N ′-Nitro- N -Nitrosoguanidine and Some Other Agents on Euglena  Journal Articles
• Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration  Journal Articles
• Chromosomal damage induced by human adenovirus type 12 requires expression of the E1B 55-kilodalton viral protein  Journal Articles
• Chronic venous abnormalities in symptomatic and asymptomatic protein C deficiency  Journal Articles
• Chronology of sodium channel mutations associated with pyrethroid resistance in Aedes aegypti  Journal Articles
• Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer  Journal Articles
• Citrobacter rodentium virulence in mice associates with bacterial load and the type III effector NleE  Journal Articles
• Cl⁻ transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epithelial Na⁺ channels (ENaCs) in Xenopus oocytes co‐expressing CFTR and ENaC  Journal Articles
• Clinical Features and Long-Term Outcomes of a Pan-Canadian Cohort of Adolescents and Young Adults with Myeloproliferative Neoplasms: A Canadian MPN Group Study  Journal Articles
• Clinical Management Recommendations for Surveillance and Risk-Reduction Strategies for Hereditary Breast and Ovarian Cancer Among Individuals Carrying a Deleterious BRCA1 or BRCA2 Mutation  Journal Articles
• Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome  Journal Articles
• Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis  Journal Articles
• Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array  Journal Articles
• Clinical and Molecular Studies of the Effect of Imatinib on Advanced Aggressive Fibromatosis (desmoid tumor)  Journal Articles
• Clinical and biological implications of driver mutations in myelodysplastic syndromes  Journal Articles
• Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.  Journal Articles
• Clinical impact of mutation fraction in epidermal growth factor receptor mutation positive NSCLC patients  Journal Articles
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Journal Articles
• Clinical significance of periodic detection of hepatitis B virus YVDD mutation by ultrasensitive real-time amplification refractory mutation system quantitative PCR during lamivudine treatment in patients with chronic hepatitis B.  Journal Articles
• Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome  Journal Articles
• Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study  Journal Articles
• Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency  Journal Articles
• Clinically relevant mutations in core metabolic genes confer antibiotic resistance  Journal Articles
• Clinical–pathologic significance of cancer stem cell marker expression in familial breast cancers  Journal Articles
• Clonal haematopoiesis, ageing and kidney disease  Journal Articles
• Clonal hematopoiesis of indeterminate potential is associated with acute kidney injury  Journal Articles
• Cloning and Characterization of cDNA for Adenosine Kinase from Mammalian (Chinese Hamster, Mouse, Human and Rat) Species.  Journal Articles
• Cloning of a Chromosomal Region Responsible for Streptolysin S Production in Streptococcus pyogenes  Conferences
• Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis  Journal Articles
• Clustering of motor and nonmotor traits in leucine‐rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study  Journal Articles
• Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability  Journal Articles
• Cockayne syndrome group B protein regulates fork restart, fork progression and MRE11-dependent fork degradation in BRCA1/2-deficient cells  Journal Articles
• Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening  Journal Articles
• Codon Usage in Mitochondrial Genomes: Distinguishing Context-Dependent Mutation from Translational Selection  Journal Articles
• Cofilin Nuclear-Cytoplasmic Shuttling Affects Cofilin-Actin Rod Formation During Stress  Journal Articles
• Collaborative Effort for a Centralized Worldwide Tuberculosis Relational Sequencing Data Platform: Figure 1.  Journal Articles
• Common biosynthetic origins for polycyclic tetramate macrolactams from phylogenetically diverse bacteria  Journal Articles
• Common β‐lactamases inhibit bacterial biofilm formation  Journal Articles
• Communication between Tandem cAMP Binding Domains in the Regulatory Subunit of Protein Kinase A-Iα as Revealed by Domain-silencing Mutations  Journal Articles
• Communication of Radiation-Induced Signals in Vivo between DNA Repair Deficient and Proficient Medaka (Oryzias latipes)  Journal Articles
• Comorbidities and complications in adults with pyruvate kinase deficiency  Journal Articles
• Comparative Emergence of Maribavir and Ganciclovir Resistance in a Randomized Phase 3 Clinical Trial for Treatment of Cytomegalovirus Infection.  Journal Articles
• Comparative Genetics of the rdar Morphotype inSalmonella  Journal Articles
• Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation  Journal Articles
• Comparative analysis of function and interaction of transcription factors in nematodes: Extensive conservation of orthology coupled to rapid sequence evolution  Journal Articles
• Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome  Journal Articles
• Comparison of Assays for the Diagnosis of Mycoplasma genitalium and Macrolide Resistance Mutations in Self-Collected Vaginal Swabs and Urine  Journal Articles
• Comparison of in vivo somatic cell mutation, chromosome aberration, sister chromatid exchange, micronuclei formation and urine mutagenicity in steel foundry workers.  Journal Articles
• Compensatory neutral mutations and the evolution of RNA.  Journal Articles
• Complementation of adenovirus type 5 host range mutants by adenovirus type 12 in coinfected HeLa and BHK-21 cells  Journal Articles
• Complete genomic landscape of a recurring sporadic parathyroid carcinoma  Journal Articles
• Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma  Journal Articles
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Journal Articles
• Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy  Journal Articles
• Conditional RNA interference in vivo to study mutant p53 oncogenic gain of function on tumor malignancy  Journal Articles
• Conditional deletion of AP-2β in the cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma  Journal Articles
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• Conserved inserts in the Hsp60 (GroEL) and Hsp70 (DnaK) proteins are essential for cellular growth  Journal Articles
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• Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation  Journal Articles
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• Contralateral Breast Cancer in BRCA1 and BRCA2 Mutation Carriers  Journal Articles
• Contrasting patterns of geographic variation in the cosmopolitan sibling species Drosophila melanogaster and Drosophila simulans  Journal Articles
• Contribution of SHANK3 Mutations to Autism Spectrum Disorder  Journal Articles
• Contribution of SHANK3 mutations to autism spectrum disorder.  Journal Articles
• Control of RpoS in global gene expression of Escherichia coli in minimal media  Journal Articles
• Control of the receptor for galactose taxis in Salmonella typhimurium  Journal Articles
• Conversion to Leber Hereditary Optic Neuropathy After Hyperbaric Oxygen Therapy.  Journal Articles
• Coordination of fungal biofilm development by extracellular vesicle cargo  Journal Articles
• Correlation between Azole Susceptibilities, Genotypes, and ERG11 Mutations in Candida albicans Isolates Associated with Vulvovaginal Candidiasis in China  Journal Articles
• Cost-Effectiveness of Osimertinib in Treating Newly Diagnosed, Advanced EGFR-Mutation-Positive Non-Small Cell Lung Cancer  Journal Articles
• Cost-effectiveness of Osimertinib as a Second-line Treatment in Patients With EGFR-mutated Advanced Non–Small Cell Lung Cancer in China  Journal Articles
• Coupling of rates of transcription, translation, and messenger ribonucleic acid degradation in streptomycin-dependent mutants of Escherichia coli  Journal Articles
• Co‐operation between neural and myogenic mechanisms in the control of distension‐induced peristalsis in the mouse small intestine  Journal Articles
• Cross resistance pattern towards anticancer drugs of a human carcinoma multidrug-resistant cell line  Journal Articles
• Cross-resistance and biochemical characteristics of second-step mutants of HeLa cells resistant to cardiac glycosides  Journal Articles
• Crystal Structure of Human XLF: A Twist in Nonhomologous DNA End-Joining  Journal Articles
• Crystal Structure of the Passenger Domain of the Escherichia coli Autotransporter EspP  Journal Articles
• Crystal structures of homoserine dehydrogenase suggest a novel catalytic mechanism for oxidoreductases  Journal Articles
• Crystallographic analysis of TarI and TarJ, a cytidylyltransferase and reductase pair for CDP-ribitol synthesis in Staphylococcus aureus wall teichoic acid biogenesis  Journal Articles
• Ctp1 protein–DNA filaments promote DNA bridging and DNA double-strand break repair  Journal Articles
• Customized Viral Immunotherapy for HPV-Associated Cancer  Journal Articles
• Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death  Journal Articles
• Cystic Fibrosis Foundation Pulmonary Guidelines. Use of Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy in Patients with Cystic Fibrosis  Journal Articles
• Cystic Fibrosis Transmembrane Conductance Regulator Gene Abnormalities in Patients with Asthma and Recurrent Neutrophilic Bronchitis  Journal Articles
• DHCR7 and Smith-Lemli-Opitz syndrome.  Journal Articles
• DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants  Journal Articles
• DMG26  Journal Articles
• DNA Repair in Chlamydomonas reinhardtii Induced by Heat Shock and Gamma Radiation  Journal Articles
• DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients  Journal Articles
• DRB resistance in Chinese hamster and human cells: Genetic and biochemical characteristics of the selection system  Journal Articles
• DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration  Journal Articles
• Dacomitinib compared with placebo in pretreated patients with advanced or metastatic non-small-cell lung cancer (NCIC CTG BR.26): a double-blind, randomised, phase 3 trial  Journal Articles
• De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome  Journal Articles
• De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features  Journal Articles
• De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay  Journal Articles
• Decoding Toxicity  Journal Articles
• Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa  Journal Articles
• Deep mutational scanning and massively parallel kinetics of plasminogen activator inhibitor-1 functional stability to probe its latency transition  Journal Articles
• Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape  Journal Articles
• Defective transforming capacity of adenovirus type 5 host-range mutants  Journal Articles
• Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice  Journal Articles
• Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency  Journal Articles
• Definition of adenovirus type 5 functions involved in the induction of chromosomal aberrations in human cells  Journal Articles
• Delayed cell death and bystander effects in the progeny of Chinook Salmon Embryo cells exposed to radiation and a range of aquatic pollutants  Journal Articles
• Delayed expression of enhanced reactivation and decreased mutagenesis of UV-irradiated adenovirus in UV-irradiated ataxia telangiectasia fibroblasts  Journal Articles
• Delayed expression of lethal mutations and genomic instability in the progeny of human epithelial cells that survived in a bystander-killing environment  Journal Articles
• Delineating domains and functions of NUP98 contributing to the leukemogenic activity of NUP98-HOX fusions  Journal Articles
• Denosumab treatment for fibrous dysplasia  Journal Articles
• Detecting selection using a single genome sequence of M. tuberculosis and P. falciparum  Journal Articles
• Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing  Journal Articles
• Detection of a clone‐specific GATA1 mutation to monitor treatment response and involvement of a monozygotic twin in myeloid leukemia of Down syndrome  Journal Articles
• Detection of the (–^SEA) double α‐globin gene deletion by a simple immunologic assay for embryonic ζ‐globin chains  Journal Articles
• Determination of the Topology of the Hydrophobic Segment of Mammalian Diacylglycerol Kinase Epsilon in a Cell Membrane and Its Relationship to Predictions from Modeling  Journal Articles
• Deterministic evolution and stringent selection during preneoplasia  Journal Articles
• Development and Characterization of a Xylose-Dependent System for Expression of Cloned Genes in Bacillus subtilis : Conditional Complementation of a Teichoic Acid Mutant  Journal Articles
• Development of a specific assay for cardiac glycoside-like compounds based on cross-resistance of human cell mutants  Journal Articles
• Development of the Drosophila olfactory sense organs utilizes cell-cell interactions as well as lineage  Journal Articles
• Developmental origin andkit-dependent development of the interstitial cells of cajal in the mammalian small intestine  Journal Articles
• Developmentally regulated cleavage of tRNAs in the bacterium Streptomyces coelicolor  Journal Articles
• Diabetes and breast cancer among women with BRCA1 and BRCA2 mutations  Journal Articles
• Diagnosis and high incidence of hyperornithinemia‐hyperammonemia‐homocitrullinemia (HHH) syndrome in northern Saskatchewan  Journal Articles
• Diagnosis and treatment of dementia: 1. Risk assessment and primary prevention of Alzheimer disease  Journal Articles
• Different hotspot p53 mutants exert distinct phenotypes and predict outcome of colorectal cancer patients  Journal Articles
• Dimeric c-di-GMP Is Required for Post-translational Regulation of Alginate Production in Pseudomonas aeruginosa  Journal Articles
• Dimerization and interactions of Brucella suis VirB8 with VirB4 and VirB10 are required for its biological activity  Journal Articles
• Dinitropyrene-resistant Salmonella typhimurium are deficient in an acetyl-CoA acetyltransferase  Journal Articles
• Diphtheria toxin resistance in chinese hamster cells: Genetic and biochemical characteristics of the mutants affected in protein synthesis  Journal Articles
• Diphtheria-toxin-resistant mutants of CHO cells affected in protein synthesis: A novel phenotype  Journal Articles
• Direct and delayed X‐ray‐induced DNA damage in male mouse germ cells  Journal Articles
• Direct interaction of a small-molecule modulator with G551D-CFTR, a cystic fibrosis-causing mutation associated with severe disease  Journal Articles
• Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals  Journal Articles
• Disintegrating the fly: A mutational perspective on phenotypic integration and covariation  Journal Articles
• Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability  Journal Articles
• Disruption of the kringle 1 domain of prothrombin leads to late onset mortality in zebrafish  Journal Articles
• Dissociation between the level of von Willebrand factor‐cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura  Journal Articles
• Distinct roles of the DmNav and DSC1 channels in the action of DDT and pyrethroids  Journal Articles
• Distinguishing West Nile virus infection using a recombinant envelope protein with mutations in the conserved fusion-loop  Journal Articles
• Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening  Journal Articles
• Diverse biophysical mechanisms in voltage‐gated sodium channel Na_v1.4 variants associated with myotonia  Journal Articles
• Diverse high-affinity DNA aptamers for wild-type and B.1.1.7 SARS-CoV-2 spike proteins from a pre-structured DNA library  Journal Articles
• Diversity, functional classification and genotyping of SHV β-lactamases in Klebsiella pneumoniae.  Journal Articles
• Does Gene Translocation Accelerate the Evolution of Laterally Transferred Genes?  Journal Articles
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• Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution  Journal Articles
• Dopamine and Aging: Intersecting Facets  Journal Articles
• Dose– and time–response relationships for lethal mutations and chromosomal instability induced by ionizing radiation in an immortalized human keratinocyte cell line  Journal Articles
• Downregulation of CYB5D2 is associated with breast cancer progression  Journal Articles
• Drosophila RhoGAP68F is a putative GTPase activating protein for RhoA participating in gastrulation  Journal Articles
• Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice  Journal Articles
• Dual amyloid domains promote differential functioning of the chaplin proteins duringStreptomycesaerial morphogenesis  Journal Articles
• Dual molecular diagnoses in a neurometabolic specialty clinic  Journal Articles
• Dural Venous Sinus Thrombosis and Papilledema Related to JAK2 Mutation: A Case Series.  Journal Articles
• Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers  Journal Articles
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• Dynamic and Heterogeneous Mutations to Fluconazole Resistance in Cryptococcus neoformans  Journal Articles
• Dysferlin aggregation in limb‐girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis  Journal Articles
• Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human  Journal Articles
• E-cadherin alterations in atypical lobular hyperplasia and lobular carcinoma in situ of the breast  Journal Articles
• Early Intervention with a Multi-Ingredient Dietary Supplement Improves Mood and Spatial Memory in a Triple Transgenic Mouse Model of Alzheimer’s Disease  Journal Articles
• Early Occurrence of Angiosarcoma in a Woman With a BRCA2 Gene Variation of Unknown Significance Treated With Breast-Conserving Therapy for Bilateral Ductal Carcinoma: A Case Report  Journal Articles
• Ecological Behavior ofLactobacillus reuteri100-23 Is Affected by Mutation of theluxSGene  Journal Articles
• Effect of Ammonium Ions on the Induction of Nitrite Reductase inNeurospora crassa  Journal Articles
• Effect of activated nitrofurans on DNA  Journal Articles
• Effect of docetaxel (taxotere) on expression of radiation-induced lethal mutations in human cell lines  Journal Articles
• Effect of nitrofurazone on bacterial RNA and ribosome synthesis and on the function of ribosomes  Journal Articles
• Effect of nitrogenase compounds from mutant and wild-type strains of Azotobacter on the dilution effect of nitrogenase  Journal Articles
• Effects of antimitotic and antimitochondrial agents on the cellular distribution of microtubules and mitochondria.  Journal Articles
• Effects of contact structure on the transient evolution of HIV virulence  Journal Articles
• Effects of limiting different purine nucleotide precursors on nucleic acid synthesis and nucleotide pools of purine-requiring mutants of Escherichia coli  Journal Articles
• Effects of metal binding affinity on the chemical and thermal stability of site-directed mutants of rat oncomodulin  Journal Articles
• Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation  Journal Articles
• Effects ofCYP2C19Genotype on Outcomes of Clopidogrel Treatment  Journal Articles
• Elevated basal transcription can underlie timothy channel association with autism related disorders  Journal Articles
• Elimination of carbon catabolite repression in Clostridium acetobutylicum—a journey toward simultaneous use of xylose and glucose  Journal Articles
• Elucidating Evolutionary Mechanisms and Variants of the Hammerhead Ribozyme Using In Vitro Selection  Journal Articles
• Empirical prediction of protein pK_avalues with residue mutation  Journal Articles
• Endometriosis-Associated Ovarian Carcinomas  Journal Articles
• Enhanced reactivation and mutagenesis of UV-irradiated adenovirus in normal human fibroblasts  Journal Articles
• Enhancement in amount of P1 (hsp60) in mutants of Chinese hamster ovary (CHO-K1) cells exhibiting increases in the A system of amino acid transport.  Journal Articles
• Enzymatic and non-enzymatic reduction of nitrite by extracts of Neurospora crassa  Journal Articles
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• Epidemiologic Approaches to Evaluating the Potential for Human Papillomavirus Type Replacement Postvaccination  Journal Articles
• Epidermal Growth Factor Receptor and Transforming Growth Factor-β Signaling Contributes to Variation for Wing Shape in Drosophila melanogaster  Journal Articles
• Epidermal Growth Factor Receptor: Pathway, Therapies, and Pipeline  Journal Articles
• Epigenomic alterations define lethal CIMP-positive ependymomas of infancy  Journal Articles
• Erlotinib in Lung Cancer — Molecular and Clinical Predictors of Outcome  Journal Articles
• Establishment of neuronal connectivity during development of the Drosophila larval visual system  Journal Articles
• Establishment of real time allele specific locked nucleic acid quantitative PCR for detection of HBV YIDD (ATT) mutation and evaluation of its application.  Journal Articles
• Estimates of DNA and protein sequence divergence: an examination of some assumptions.  Journal Articles
• Estimating the Spontaneous Mutation Rate of Loss of Sex in the Human Pathogenic Fungus Cryptococcus neoformans  Journal Articles
• Estimation of duplication history under a stochastic model for tandem repeats  Journal Articles
• Etoposide (VP16) and teniposide (VM26): novel anticancer drugs, strongly mutagenic in mammalian but not prokaryotic test systems  Journal Articles
• Evaluation of DNA Methylation Array for Glioma Tumor Profiling and Description of a Novel Epi-Signature to Distinguish IDH1/IDH2 Mutant and Wild-Type Tumors  Journal Articles
• Evaluation of the Disease Liability of CFTR Variants  Journal Articles
• Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma  Journal Articles
• Evidence for Dual Binding Sites for 1,1,1-Trichloro-2,2-bis(p-chlorophenyl)ethane (DDT) in Insect Sodium Channels  Journal Articles
• Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7  Journal Articles
• Evidence for an involvement of thymidine kinase in the excision repair of ultraviolet‐irradiated herpes simplex virus in human cells  Journal Articles
• Evidence for functional hemizygosity at the Emtr locus in CHO cells through segregation analysis  Journal Articles
• Evidence for local DNA influences on patterns of substitutions in the human α-interferon gene family  Journal Articles
• Evolution of Pseudomonas aeruginosa Virulence as a Result of Phage Predation  Journal Articles
• Evolution of an Enzyme from a Noncatalytic Nucleic Acid Sequence  Journal Articles
• Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap  Journal Articles
• Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta  Journal Articles
• Evolutionary and functional diversity of the Pseudomonas type IVa pilin island  Journal Articles
• Evolutionary loss of the rdar morphotype in Salmonella as a result of high mutation rates during laboratory passage  Journal Articles
• Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency  Journal Articles
• Evolutionary stability in continuous nonlinear public goods games  Journal Articles
• Evolutionary trajectory of SARS-CoV-2 and emerging variants  Journal Articles
• Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease  Journal Articles
• Examining the molecular clock hypothesis for the contemporary evolution of the rabies virus.  Journal Articles
• Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia  Journal Articles
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• Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome  Journal Articles
• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction  Journal Articles
• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Journal Articles
• Exon 8 KIT mutation and pulmonary eosinophilia  Journal Articles
• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease  Journal Articles
• Expected frequencies of codon use as a function of mutation rates and codon fitnesses  Journal Articles
• Exploring Intermolecular Interactions of a Substrate Binding Protein Using a Riboswitch-Based Sensor  Journal Articles
• Expression of SV40 large T antigen, but not small t antigen, is required for the induction of chromosomal aberrations in transformed human cells  Journal Articles
• Expression of TP53 mutation-associated microRNAs predicts clinical outcome in head and neck squamous cell carcinoma patients  Journal Articles
• Expression of a Mutation Causing Hypertrophic Cardiomyopathy Disrupts Sarcomere Assembly in Adult Feline Cardiac Myocytes  Journal Articles
• Expression of delayed toxicity and lethal mutations in the progeny of human cells surviving exposure to radiation and other environmental mutagens  Conferences
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• Expression of the drosophila gene disconnected using the UAS/GAL4 system  Journal Articles
• Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors  Journal Articles
• Extensive Genetic Diversity and Widespread Azole Resistance in Greenhouse Populations of Aspergillus fumigatus in Yunnan, China  Journal Articles
• FGF-Regulated Etv Genes Are Essential for Repressing Shh Expression in Mouse Limb Buds  Journal Articles
• Factor V Leiden and Thrombotic Complications in Heparin-induced Thrombocytopenia  Journal Articles
• Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene  Journal Articles
• Factors That Predict Risk of Thrombosis in Relatives of Patients With Unprovoked Venous Thromboembolism  Journal Articles
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• Familial dysmyelination in a Long Evans rat mutant.  Journal Articles
• Fas mutation reduces obesity by increasing IL-4 and IL-10 expression and promoting white adipose tissue browning  Journal Articles
• Fast spin‐echo for multiple mouse magnetic resonance phenotyping  Journal Articles
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• Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation  Journal Articles
• Fetal erythropoiesis in steel mutant mice  Journal Articles
• Fetal erythropoiesis in steel mutant mice. III. Defect in differentiation from BFU-E to CFU-E during early development  Journal Articles
• Fetal globin gene inducers: novel agents and new potential  Journal Articles
• Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype  Journal Articles
• Fighting Mutations with Mutations: Evolutionarily Adapting a DNA Aptamer for High-Affinity Recognition of Mutated Spike Proteins of SARS-CoV-2.  Journal Articles
• Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy  Journal Articles
• Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression  Journal Articles
• Fluctuation domains in adaptive evolution  Journal Articles
• Foetal Erythropoiesis in Steel Mutant Mice  Journal Articles
• Forces shaping the antibiotic resistome  Journal Articles
• Formycin B-resistant mutants of Chinese hamster ovary cells: novel genetic and biochemical phenotype affecting adenosine kinase.  Journal Articles
• Forward and reverse genetics to identify genes involved in the age‐related resistance response in Arabidopsis thaliana  Journal Articles
• Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome  Journal Articles
• Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations  Journal Articles
• Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma  Journal Articles
• Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome  Journal Articles
• Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity  Journal Articles
• Functional implications of mutations within polyomavirus large T antigen Rb-binding domain: effects on pRb and p107 binding in vitro and immortalization activity in vivo  Journal Articles
• Fusion of the C-terminal triskaidecapeptide of hirudin variant 3 to alpha1-proteinase inhibitor M358R increases the serpin-mediated rate of thrombin inhibition  Journal Articles
• GABARAP is a determinant of apoptosis in growth-arrested chicken embryo fibroblasts  Journal Articles
• Gain of function mutant p53 proteins cooperate with E2F4 to transcriptionally downregulate RAD17 and BRCA1 gene expression  Journal Articles
• Gain of function of mutant p53: The mutant p53/NF-Y protein complex reveals an aberrant transcriptional mechanism of cell cycle regulation  Journal Articles
• Gain-of-function mutant p53 downregulates miR-223 contributing to chemoresistance of cultured tumor cells  Journal Articles
• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling  Journal Articles
• Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice  Journal Articles
• Gender-Discordant Monochorionic-Diamniotic Twins Both With 45,X/46,X, Idic(Y) Mosaicism and a Novel Deletion Within the TBC1D5 Gene  Journal Articles
• Gene Dispensability in Escherichia coli Grown in Thirty Different Carbon Environments  Journal Articles
• Gene Structure for Adenosine Kinase in Chinese Hamster and Human: High-Frequency Mutants of CHO Cells Involve Deletions of Several Introns and Exons  Journal Articles
• Gene symbol: ARSA.  Journal Articles
• Gene transcription of fgl2 in endothelial cells is controlled by Ets‐1 and Oct‐1 and requires the presence of both Sp1 and Sp3  Journal Articles
• Genetic Analysis of Adenovirus Type 2. IX. The Physical Locations of Structural Genes  Journal Articles
• Genetic Analysis of Mutations Affecting pckA Regulation in Rhizobium (Sinorhizobium) meliloti  Journal Articles
• Genetic Changes Accompanying the Evolution of Host Specialization in Drosophila sechellia  Journal Articles
• Genetic Diversity and Dispersal of Aspergillus fumigatus in Arctic Soils  Journal Articles
• Genetic Etiology of Isolated Low HDL Syndrome  Journal Articles
• Genetic Interaction Screens with Ordered Overexpression and Deletion Clone Sets Implicate the Escherichia coli GTPase YjeQ in Late Ribosome Biogenesis  Journal Articles
• Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy  Journal Articles
• Genetic analysis of adenovirus type 2. VIII. Physical locations of temperature-sensitive mutations  Journal Articles
• Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations  Journal Articles
• Genetic and Molecular Analysis of GogB, a Phage-encoded Type III-secreted Substrate in Salmonella enterica Serovar Typhimurium with Autonomous Expression from its Associated Phage  Journal Articles
• Genetic and biochemical characterization of mutants of CHO cells resistant to the protein synthesis inhibitor trichodermin  Journal Articles
• Genetic and biochemical studies on mutants of CHO cells resistant to 7-deazapurine nucleosides: Differences in the mechanisms of action of toyocamycin and tubercidin  Journal Articles
• Genetic and biochemical studies with mutants of mammalian cells affected in microtubule-related proteins other than tubulin: mitochondrial localization of a microtubule-related protein  Journal Articles
• Genetic and biochemical studies with the adenosine analogs toyocamycin and tubercidin: Mutation at the adenosine kinase locus in Chinese hamster cells  Journal Articles
• Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti  Journal Articles
• Genetic bases of hypertriglyceridemic phenotypes  Journal Articles
• Genetic interactions between error-prone and error-free postreplication repair pathways in Saccharomyces cerevisiae  Journal Articles
• Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.  Journal Articles
• Genetic markers for quantitative mutagenesis studies in Chinese hamster ovary cells Characteristics of some recently developed selective systems  Journal Articles
• Genetic markers in mouse teratocarcinoma cells. Selection and partial characterization of mutants resistant to toyocamycin, DRB and podophyllotoxin  Journal Articles
• Genetic redundancy is prevalent within the 6.7 Mb Sinorhizobium meliloti genome  Journal Articles
• Genetic, structural and clinical analysis of spastic paraplegia 4  Journal Articles
• Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity  Journal Articles
• Genetics of Nitrofurazone Resistance in Escherichia coli  Journal Articles
• Genetics of microenvironmental canalization in Arabidopsis thaliana  Journal Articles
• Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin  Journal Articles
• Genome sequence of adherent-invasive Escherichia coli and comparative genomic analysis with other E. coli pathotypes  Journal Articles
• Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen  Journal Articles
• Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants  Journal Articles
• Genomic Consequences of Background Effects onscallopedMutant Expressivity in the Wing ofDrosophila melanogaster  Journal Articles
• Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes  Journal Articles
• Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations  Journal Articles
• Genomic hallmarks of localized, non-indolent prostate cancer  Journal Articles
• Genotype-Environment Interactions of Spontaneous Mutations for Vegetative Fitness in the Human Pathogenic Fungus Cryptococcus neoformans  Journal Articles
• Genotype-phenotype correlations in recessive RYR1-related myopathies  Journal Articles
• Genotypic and Phenotypic Analyses of Two “Isogenic” Strains of the Human Fungal Pathogen Cryptococcus neoformans var. neoformans  Journal Articles
• Germline mosaicism in Cornelia de Lange syndrome  Journal Articles
• Glucocorticoid Receptor Changes Associate with Age in the Paraventricular Nucleus of Type II Diabetic Rat Model  Journal Articles
• Glucose-6-phosphate dehydrogenase deficiency genotypes and allele frequencies in the Kavango and Zambezi regions of northern Namibia  Journal Articles
• Glycogen synthase kinase-3 is required for efficient Dictyostelium chemotaxis.  Journal Articles
• Glycoproteins E and I facilitate neuron-to-neuron spread of herpes simplex virus  Journal Articles
• Griseofulvin resistance mutation of Chinese hamster ovary cells that affects the apparent molecular weight of a congruent to 200,000-dalton protein.  Journal Articles
• Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family  Journal Articles
• Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the   locus control region  Journal Articles
• Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype  Journal Articles
• HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update  Journal Articles
• HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server  Journal Articles
• Heart rate variability in leucine‐rich repeat kinase 2‐associated Parkinson's disease  Journal Articles
• Hemagglutinin sequence clusters and the antigenic evolution of influenza A virus  Journal Articles
• Hemochromatosis C282Y mutation and histological fibrosis in patients with C virus chronic hepatitis  Journal Articles
• Hemoglobin H disease: not necessarily a benign disorder  Journal Articles
• Hemoglobin SE disease—A concise review  Journal Articles
• Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background  Journal Articles
• Hemoglobin synthesis in siderocytes of flexed-tailed mutant (f/f) fetal mice  Journal Articles
• Herpes Simplex Virus (HSV) Glycoproteins B and K Inhibit Cell Fusion Induced by HSV Syncytial Mutants  Journal Articles
• Herpes simplex virus IgG Fc receptors induced using recombinant adenovirus vectors expressing glycoproteins E and I  Journal Articles
• Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity  Journal Articles
• Hidden antibiotics in actinomycetes can be identified by inactivation of gene clusters for common antibiotics  Journal Articles
• High Yields of Lethal Mutations in Somatic Mammalian Cells that Survive Ionizing Radiation  Journal Articles
• High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features  Journal Articles
• High-content screening identifies kinase inhibitors that overcome venetoclax resistance in activated CLL cells  Journal Articles
• Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations  Journal Articles
• Homologous recombination between transfected DNAs.  Journal Articles
• Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption  Journal Articles
• Homozygous HB Sallanches [α104(G11)CYS→TYR] in a Pakistani Child with HB H Disease  Journal Articles
• Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers  Journal Articles
• Hormone Therapy and the Risk of Breast Cancer in BRCA1 Mutation Carriers  Journal Articles
• Host cell reactivation of irradiated adenovirus in UV-sensitive Chinese hamster ovary cell mutants  Journal Articles
• Host-range mutants of adenovirus type 5 defective for growth in HeLa cells  Journal Articles
• Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma  Journal Articles
• How Batrachotoxin Modifies the Sodium Channel Permeation Pathway: Computer Modeling and Site-Directed Mutagenesis  Journal Articles
• How we diagnose and manage altered oxygen affinity hemoglobin variants  Journal Articles
• How well do you know your mutation? Complex effects of genetic background on expressivity, complementation, and ordering of allelic effects  Journal Articles
• Human Chromosome 7: DNA Sequence and Biology  Journal Articles
• Human cell mutants affected in the interaction of the 12β-OH group of cardiac glycosides with the digitalis receptor  Journal Articles
• Human-Specific Mutations and Positively Selected Sites in MARCO Confer Functional Changes  Journal Articles
• Humanized mouse models of KRAS-mutated colorectal and pancreatic cancers with HLA-class-I match for pre-clinical evaluation of cancer immunotherapies.  Journal Articles
• Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization  Journal Articles
• Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity  Journal Articles
• HypF, a Carbamoyl Phosphate-converting Enzyme Involved in [NiFe] Hydrogenase Maturation  Journal Articles
• Hyperosmotic stress induces Rho/Rho kinase/LIM kinase-mediated cofilin phosphorylation in tubular cells: key role in the osmotically triggered F-actin response  Journal Articles
• Hypophosphatasia: Canadian update on diagnosis and management  Journal Articles
• Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults  Journal Articles
• IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci’s Syndrome  Journal Articles
• IL-10 produced by trophoblast cells inhibits phagosome maturation leading to profound intracellular proliferation of Salmonella enterica Typhimurium  Journal Articles
• IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis  Journal Articles
• INHIBITION OF THROMBIN BY HIRUDIN GENETICALLY FUSED TO WILD-TYPE OR MUTANT ANTITHROMBIN  Journal Articles
• Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects  Journal Articles
• Identification of 2-benzimidazolyl urea as a new antimitotic compound based on cross resistance studies with nocodazole resistant mutants of cho cells  Journal Articles
• Identification of Conserved, RpoS-Dependent Stationary-Phase Genes of Escherichia coli  Journal Articles
• Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis  Journal Articles
• Identification of Mutations in Proviral Long Terminal Repeats of HIV Type 1-Infected Subjects Naive to Drug Therapy  Journal Articles
• Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β‐Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry  Journal Articles
• Identification of Two Phosphate Starvation-induced Wall Teichoic Acid Hydrolases Provides First Insights into the Degradative Pathway of a Key Bacterial Cell Wall Component  Journal Articles
• Identification of a hTid‐1 mutation which sensitizes gliomas to apoptosis  Journal Articles
• Identification of a novel termination codon mutation (TAA-->TAT, Term-- >Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease [letter]  Journal Articles
• Identification of a novel β⁰ ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis  Journal Articles
• Identification of amidoheteroaryls as potent inhibitors of mutant (V600E) B-Raf kinase with in vivo activity  Journal Articles
• Identification of mutants with altered phenazine production in Pseudomonas aeruginosa  Journal Articles
• Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)  Journal Articles
• Identification of the MMRN1 Binding Region within the C2 Domain of Human Factor V  Journal Articles
• Identification of the Regulatory Logic Controlling Salmonella Pathoadaptation by the SsrA-SsrB Two-Component System  Journal Articles
• Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.  Journal Articles
• Igf1r⁺/CD34⁺ immature ICC are putative adult progenitor cells, identified ultrastructurally as fibroblast‐like ICC in Ws/Ws rat colon  Journal Articles
• Imatinib for Melanomas Harboring Mutationally Activated or Amplified KIT Arising on Mucosal, Acral, and Chronically Sun-Damaged Skin  Journal Articles
• Immunofluorometric assay of p53 protein versus sequencing of p53 exons 5 to 9 for the detection of p53 abnormalities in ovarian carcinoma.  Journal Articles
• Immunogenic HSV-mediated Oncolysis Shapes the Antitumor Immune Response and Contributes to Therapeutic Efficacy  Journal Articles
• Immunological studies with different classes of mutants affected at the adenosine kinase locus in CHO cells  Journal Articles
• Immunosignatures associated with TP53 status and co-mutations classify prognostically head and neck cancer patients  Journal Articles
• Impact of CFTR modulation with Ivacaftor on Gut Microbiota and Intestinal Inflammation  Journal Articles
• Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency—first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository  Journal Articles
• Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies  Journal Articles
• Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes  Journal Articles
• In Silico Activation of KcsA K+ Channel by Lateral Forces Applied to the C-Termini of Inner Helices  Journal Articles
• In vivo functional analysis and genetic modification of in vitro-derived mouse neutrophils.  Journal Articles
• Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada  Journal Articles
• Incidence of endometrial cancer in BRCA mutation carriers.  Journal Articles
• Increased BNip3 and decreased mutant p53 in cisplatin-sensitive PDT-resistant HT29 cells  Journal Articles
• Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull  Journal Articles
• Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies  Journal Articles
• Induction of Escherichia coli hydroperoxidase I by acetate and other weak acids  Journal Articles
• Induction of genomic instability in SV40 transformed human cells: sufficiency of the N-terminal 147 amino acids of large T antigen and role of pRB and p53.  Journal Articles
• Induction of multiple PCR-SSCPE mobility shifts in exons in cultures of normal human urothelium exposed to low-dose gamma radiation  Journal Articles
• Induction of the phase II detoxification pathway suppresses neuron loss in Drosophila models of Parkinson's disease.  Journal Articles
• Infection risk associated with clonal hematopoiesis of indeterminate potential is partly mediated by hematologic cancer transformation in the UK Biobank  Journal Articles
• Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case–control study  Journal Articles
• Influence of Tertiary paleoenvironmental changes on the diversification of South American mammals: a relaxed molecular clock study within xenarthrans.  Journal Articles
• Inhibition of Metabotropic Glutamate Receptor Signaling by the Huntingtin-binding Protein Optineurin  Journal Articles
• Inhibition of endogenous MTF-1 signaling in zebrafish embryos identifies novel roles for MTF-1 in development  Journal Articles
• Inhibition of metabolic cooperation by phorbol esters in a cell culture system based on adenosine kinase deficient mutants of V79 cells  Journal Articles
• Insertional mutagenesis using a synthetic lac operator  Journal Articles
• Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies  Journal Articles
• Instability of toxin A subunit of AB5 toxins in the bacterial periplasm caused by deficiency of their cognate B subunits  Journal Articles
• Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors  Journal Articles
• Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome  Journal Articles
• Integration and expression of viral DNA in cells transformed by host range mutants of adenovirus type 5  Journal Articles
• Integrins Regulate Responsiveness to Slit Repellent Signals  Journal Articles
• Interaction of mutant p53 with p73: A Surface Plasmon Resonance and Atomic Force Spectroscopy study  Journal Articles
• Interactions of pro-apoptotic BH3 proteins with anti-apoptotic Bcl-2 family proteins measured in live MCF-7 cells using FLIM FRET  Journal Articles
• International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation  Journal Articles
• International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers  Journal Articles
• Intersegment contacts determine geometry of the open and closed states in P-loop channels  Journal Articles
• Introduction of UAG, UAA, and UGA nonsense mutations at a specific site in the Escherichia coli chloramphenicol acetyltransferase gene: use in measurement of amber, ochre, and opal suppression in mammalian cells.  Journal Articles
• Intron-specific patterns of divergence of lin-11 regulatory function in the C. elegans nervous system  Journal Articles
• Investigating Voice as a Biomarker for Leucine-Rich Repeat Kinase 2-Associated Parkinson’s Disease  Journal Articles
• Investigating β-Hydroxyenduracididine Formation in the Biosynthesis of the Mannopeptimycins  Journal Articles
• Investigation of Intercellular Salicylic Acid Accumulation during Compatible and Incompatible Arabidopsis-Pseudomonas syringae Interactions Using a Fast Neutron-Generated Mutant Allele of EDS5 Identified by Genetic Mapping and Whole-Genome Sequencing  Journal Articles
• Involvement of adenosine kinase in the phosphorylation of formycin B in CHO cells  Journal Articles
• Involvement of the rml locus in core oligosaccharide and O polysaccharide assembly in Pseudomonas aeruginosa  Journal Articles
• Irreversible Block of Cardiac Mutant Na⁺Channels by Batrachotoxin  Journal Articles
• Isolation and characterization of mutants of human diploid fibroblasts resistant to diphtheria toxin.  Journal Articles
• Isolation and characterization of respiratory-deficient mutants of Escherichia coli K-12  Journal Articles
• Isolation and characterization of the disconnected gene of Drosophila melanogaster.  Journal Articles
• Isolation and properties of a Euglena mutant resistant to the killing and bleaching effects of N-methyl-N′-nitro-N-nitrosoguanidine and some other agents  Journal Articles
• Isolation of DNA Aptamers for CDP‐Ribitol Synthase, and Characterization of Their Inhibitory and Structural Properties  Journal Articles
• Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation  Journal Articles
• Isolation of a gene that down-regulates nitrate assimilation and influences another regulatory gene in the same system.  Journal Articles
• K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas  Journal Articles
• KEYNOTE-022: Pembrolizumab with trametinib in patients with BRAF wild-type melanoma or advanced solid tumours irrespective of BRAF mutation  Journal Articles
• Kinase inhibitors modulate huntingtin cell localization and toxicity  Journal Articles
• Kinematic Analysis of Drosophila Larval Locomotion in Response to Intermittent Light Pulses  Journal Articles
• Kinetic mechanism of the GCN5-related chromosomal aminoglycoside acetyltransferase AAC(6')-Ii from Enterococcus faecium: evidence of dimer subunit cooperativity  Journal Articles
• Krüppel‐like factor 1: hematologic phenotypes associated with KLF1 gene mutations  Journal Articles
• Langerhans Cell Histiocytosis Associated With Renal Cell Carcinoma Is a Neoplastic Process  Conferences
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation  Journal Articles
• Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2  Journal Articles
• Lentiviral vectors pseudotyped with minimal filovirus envelopes increased gene transfer in murine lung  Journal Articles
• Les datations moléculaires à l’heure de la génomique  Journal Articles
• Lethal Mutations Attributable to Misrepair of Q-lesions  Journal Articles
• Lethal Mutations in Cultured Mammalian Cells  Journal Articles
• Lethal Mutations, the Survival Curve Shoulder and Split-dose Recovery  Journal Articles
• Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter  Journal Articles
• Lien possible entre rhabdomyolyse et vaccin anti-SRAS-CoV-2 à ARNm chez une patiente porteuse d’une mutation du gène RYR1  Journal Articles
• Life-Threatening Thrombosis in Mice With Targeted Arg48-to-Cys Mutation of the Heparin-Binding Domain of Antithrombin  Journal Articles
• Lineage, migration, and morphogenesis of longitudinal glia in the Drosophila CNS as revealed by a molecular lineage marker  Journal Articles
• Lineage-specific mutational clustering in protein structures predicts evolutionary shifts in function  Journal Articles
• Linear Free Energy Relationship Analysis of Transition State Mimicry by 3-Deoxy-d-arabino-heptulosonate-7-phosphate (DAHP) Oxime, a DAHP Synthase Inhibitor and Phosphate Mimic  Journal Articles
• LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias  Journal Articles
• Lipopolysaccharide core phosphates are required for viability and intrinsic drug resistance in Pseudomonas aeruginosa  Journal Articles
• Local molecular analysis of indeterminate thyroid nodules  Journal Articles
• Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina  Journal Articles
• Location of sequences in polyomavirus DNA that are required for early gene expression in vivo and in vitro.  Journal Articles
• Long-chain fatty acyl-CoA esters regulate metabolism via allosteric control of AMPK β1 isoforms  Journal Articles
• Long-term effects of ionizing radiation after the Chernobyl accident: Possible contribution of historic dose  Journal Articles
• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases  Journal Articles
• Loss of malic enzymes leads to metabolic imbalance and altered levels of trehalose and putrescine in the bacterium Sinorhizobium meliloti  Journal Articles
• Loss-of-Function KCNE2 Variants  Journal Articles
• Low prevalence of JAK2 V617F mutation in patients with first unprovoked venous thromboembolism  Journal Articles
• Low salt concentrations activate AMP-activated protein kinase in mouse macula densa cells  Journal Articles
• Lunatic Fringe-mediated Notch signaling is required for lung alveogenesis  Journal Articles
• Lyme Disease Enolpyruvyl-UDP-GlcNAc Synthase: Fosfomycin-Resistant MurA from Borrelia burgdorferi, a Fosfomycin-Sensitive Mutant, and the Catalytic Role of the Active Site Asp  Journal Articles
• Lys 42/43/44 and Arg 12 of thrombin-activable fibrinolysis inhibitor comprise a thrombomodulin exosite essential for its antifibrinolytic potential  Journal Articles
• MDS with del(5q) and associated cKIT D816V positive mastocytosis  Journal Articles
• MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review  Journal Articles
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis  Journal Articles
• MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations  Journal Articles
• Machine learning-based immune phenotypes correlate with STK11/KEAP1 co-mutations and prognosis in resectable NSCLC: a sub-study of the TNM-I trial  Journal Articles
• Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study  Journal Articles
• Male Sexual Dysfunction in Mice Bearing Targeted Mutant Alleles of thePEA3 etsGene  Journal Articles
• Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2  Journal Articles
• Mammalian target of rapamycin complex 1 activation sensitizes human glioma cells to hypoxia-induced cell death  Journal Articles
• Management of Inheritedvon Willebrand Disease in Italy: Results from the Retrospective Study on 1234 Patients  Journal Articles
• Management of the BRCA Mutation Carrier or High-Risk Patient  Journal Articles
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Journal Articles
• Mapping the Free Energy Landscape of PKA Inhibition and Activation: A Double-Conformational Selection Model for the Tandem cAMP-Binding Domains of PKA RIα  Journal Articles
• Mapping the interaction surface of scorpion β-toxins with an insect sodium channel  Journal Articles
• Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy  Journal Articles
• Massively parallel enzyme kinetics reveals the substrate recognition landscape of the metalloprotease ADAMTS13  Journal Articles
• Mate Choice and the Origin of Menopause  Journal Articles
• Mathematical model for the cancer stem cell hypothesis  Journal Articles
• Matrix Metalloproteinases are required for membrane motility and lumenogenesis during Drosophila heart development  Journal Articles
• Measurement of State-Specific Association Constants in Allosteric Sensors through Molecular Stapling and NMR  Journal Articles
• Mechanism and Diversity of the Erythromycin Esterase Family of Enzymes  Journal Articles
• Mechanism of loading and translocation of type VI secretion system effector Tse6  Journal Articles
• Mechanisms associated with mitochondrial-generated reactive oxygen species in cancerThis article is one of a selection of papers published in a Special Issue on Oxidative Stress in Health and Disease.  Journal Articles
• Menin Is a Regulator of the Stress Response in Drosophila melanogaster  Journal Articles
• Menin Links the Stress Response to Genome Stability in Drosophila melanogaster  Journal Articles
• Menin: The Protein Behind the MEN1 Syndrome  Journal Articles
• Mesectodermal cell fate analysis in Drosophila midline mutants  Journal Articles
• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments  Journal Articles
• Metabolic Myopathies Discovered During Investigations of Statin Myopathy  Journal Articles
• Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma  Journal Articles
• Metabolic response by FDG-PET to imatinib correlates with exon 11 KIT mutation and predicts outcome in patients with mucosal melanoma  Journal Articles
• Metabolomic analysis of exercise effects in the POLG mitochondrial DNA mutator mouse brain  Journal Articles
• Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling  Journal Articles
• Methylene tetrahydrofolate reductase mutation and stroke in a monozygotic twin  Journal Articles
• Mice with a Targeted Mutation of Patched2 Are Viable but Develop Alopecia and Epidermal Hyperplasia  Journal Articles
• MicroTUB(B3)ules and Brain Development  Journal Articles
• Microsatellite DNA Mutations in Double-Crested Cormorants (Phalacrocorax auritus) Associated with Exposure to PAH-Containing Industrial Air Pollution  Journal Articles
• Microtubule stability, Golgi organization, and transport flux require dystonin-a2-MAP1B interaction.  Journal Articles
• Mild β⁺-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A)  Journal Articles
• Mimicking the human environment in mice reveals that inhibiting biotin biosynthesis is effective against antibiotic-resistant pathogens  Journal Articles
• Mitochondria and Cancer: Past, Present, and Future  Journal Articles
• Mitochondrial Localization of a Microtubule‐Related Proteina  Journal Articles
• Mitochondrial Malate Dehydrogenase: A New Genetic Polymorphism in Man  Journal Articles
• Mitochondrial Myopathies: Diagnosis, Exercise Intolerance, and Treatment Options  Journal Articles
• Mitochondrial binding of a protein affected in mutants resistant to the microtubule inhibitor podophyllotoxin.  Journal Articles
• Mitochondrial matrix localization of a protein altered in mutants resistant to the microtubule inhibitor podophyllotoxin.  Journal Articles
• Modeling P-Loops Domain of Sodium Channel: Homology with Potassium Channels and Interaction with Ligands  Journal Articles
• Modification of Pseudomonas aeruginosa Pa5196 Type IV Pilins at Multiple Sites with d -Ara f by a Novel GT-C Family Arabinosyltransferase, TfpW  Journal Articles
• Modifier Gene Studies to Identify New Therapeutic Targets in Cystic Fibrosis  Journal Articles
• Modulation of the Phenotypic Expression of a Human Serine tRNA Gene by 5′-Flanking Sequences  Journal Articles
• Molecular Basis for Immunity Protein Recognition of a Type VII Secretion System Exported Antibacterial Toxin  Journal Articles
• Molecular Characterization of Chinese Hamster Cells Mutants Affected in Adenosine Kinase and Showing Novel Genetic and Biochemical Characteristics  Journal Articles
• Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder  Journal Articles
• Molecular Testing in Non–Small-Cell Lung Cancer: A Call to Action  Journal Articles
• Molecular analysis and genotype‐phenotype correlation of Diamond‐Blackfan anemia  Journal Articles
• Molecular basis of inherited human antithrombin deficiency  Journal Articles
• Molecular evidence for dual pyrethroid-receptor sites on a mosquito sodium channel  Journal Articles
• Molecular mechanism of actin filament elongation by formins  Journal Articles
• Molecular mechanisms of cefoxitin resistance in Escherichia coli from the Toronto area hospitals  Journal Articles
• Molecular structural analysis of a novel and de‐novo mutation in the SERPINC1 gene associated with type 1 antithrombin deficiency  Journal Articles
• Monoclonal antibodies to Rhizobium meliloti and surface mutants insensitive to them  Journal Articles
• Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis  Journal Articles
• Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation  Journal Articles
• Mouse models for mitochondrial disease  Journal Articles
• MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B  Journal Articles
• Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C  Journal Articles
• Multinational evaluation of clinical decision-making in the treatment and management of mild-to-moderate ulcerative colitis  Journal Articles
• Multiple subelements within the polyomavirus enhancer function synergistically to activate DNA replication.  Journal Articles
• Multiple substitutions create biased estimates of divergence times and small increases in the variance to mean ratio  Journal Articles
• Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours  Journal Articles
• Mutagen screening with bacteria: Niridazole and nitrofurans  Journal Articles
• Mutagenesis and peptide analysis of the DRY motif in the α2A adrenergic receptor: evidence for alternate mechanisms in G protein-coupled receptors  Journal Articles
• Mutagenic response to ultraviolet light and X‐rays at five independent genetic loci in chinese hamster ovary cells  Journal Articles
• Mutagenicity of nitrofuran derivatives: Review  Journal Articles
• Mutant Alleles at the Locus elav in Drosophila melanogaster lead to Nervous System Defects. A Developmental-Genetic Analysis  Journal Articles
• Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease  Journal Articles
• Mutant p53 gain of function: differential effects of different p53 mutants on resistance of cultured cells to chemotherapy  Journal Articles
• Mutant p53 gain of function: reduction of tumor malignancy of human cancer cell lines through abrogation of mutant p53 expression  Journal Articles
• Mutant p53 proteins: Between loss and gain of function  Journal Articles
• Mutant p53 stimulates chemoresistance of pancreatic adenocarcinoma cells to gemcitabine  Journal Articles
• Mutant p53: an oncogenic transcription factor  Journal Articles
• Mutants of CHO cells resistant to the protein synthesis inhibitor emetine: Genetic and biochemical characterization of second-step mutants  Journal Articles
• Mutants of CHO cells resistant to the protein synthesis inhibitors, cryptopleurine and tylocrebrine: genetic and biochemical evidence for common site of action of emetine, cryptopleurine, tylocrebrine, and tubulosine  Journal Articles
• Mutants of HeLa cells resistant to ouabain and cassaine: Genetic evidence for the common site of action of cardiac glycosides and erythrophleum alkaloids  Journal Articles
• Mutants of Rhizobium meliloti defective in succinate metabolism  Journal Articles
• Mutants of chinese hamster ovary cells affected in two different microtubule-associated proteins. Genetic and biochemical studies.  Journal Articles
• Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran  Conferences
• Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome  Journal Articles
• Mutation in the S gene of hepatitis B virus and anti-HBs subtype-nonspecificity contributed to the co-existence of HBsAg and anti-HBs in patients with chronic hepatitis B virus infection.  Journal Articles
• Mutation of Any Site of N-Linked Glycosylation Accelerates the In Vivo Clearance of Recombinant Rabbit Antithrombin  Journal Articles
• Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy  Journal Articles
• Mutation screening of a neutral amino acid transporter, ASCT1, and its potential role in schizophrenia  Journal Articles
• Mutational analysis of state-dependent contacts in the pore module of eukaryotic sodium channels  Journal Articles
• Mutational analysis of the herpes simplex virus trans-inducing factor Vmw65  Journal Articles
• Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype  Journal Articles
• Mutations in KCNT1 cause a spectrum of focal epilepsies  Journal Articles
• Mutations in Caenorhabditis briggsae identify new genes important for limiting the response to EGF signaling during vulval development  Journal Articles
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Journal Articles
• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy  Journal Articles
• Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas  Journal Articles
• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Journal Articles
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia  Journal Articles
• Mutations in cholesteryl ester transfer protein and hepatic lipase in a North American population  Journal Articles
• Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation  Journal Articles
• Mutations in the Chromosomal Passenger Complex and the Condensin Complex Differentially Affect Synaptonemal Complex Disassembly and Metaphase I Configuration in Drosophila Female Meiosis  Journal Articles
• Mutations in the Drosophila Condensin Subunit dCAP-G  Journal Articles
• Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation  Journal Articles
• Mutations in the genestand still disrupt germ cell differentiation inDrosophila ovaries  Journal Articles
• Mutations in the genome of porcine reproductive and respiratory syndrome virus responsible for the attenuation phenotype  Journal Articles
• Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants  Journal Articles
• Mutations in the transmembrane helix S6 of domain IV confer cockroach sodium channel resistance to sodium channel blocker insecticides and local anesthetics  Journal Articles
• Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly  Journal Articles
• Mutations of two acidic residues at the cytoplasmic end of segment IIIS6 of an insect sodium channel have distinct effects on pyrethroid resistance  Journal Articles
• Mycoplasma genitalium Antibiotic Resistance–Mediating Mutations in Canadian Women With or Without Chlamydia Trachomatis Infection  Journal Articles
• Myxoma Virus M-T7, a Secreted Homolog of the Interferon-γ Receptor, Is a Critical Virulence Factor for the Development of Myxomatosis in European Rabbits  Journal Articles
• NADP+ -dependent malic enzyme of Rhizobium meliloti  Journal Articles
• NITROFURAN DERIVATIVES AS RADIOMIMETIC AGENTS: CROSS-RESISTANCE STUDIES WITH ESCHERICHIA COLI.  Journal Articles
• NMR methods to dissect the molecular mechanisms of disease-related mutations (DRMs): Understanding how DRMs remodel functional free energy landscapes  Journal Articles
• NSD1 mutations generate a genome-wide DNA methylation signature  Journal Articles
• Nanoscale Pulling of Type IV Pili Reveals Their Flexibility and Adhesion to Surfaces over Extended Lengths of the Pili  Journal Articles
• Natural Selection for Nucleotide Usage at Synonymous and Nonsynonymous Sites in Influenza A Virus Genes  Journal Articles
• Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases  Journal Articles
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• Neural change inTrichinella-infected mice is MHC II independent and involves M-CSF-derived macrophages  Journal Articles
• Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey  Journal Articles
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Journal Articles
• New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A₂-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]  Journal Articles
• New therapeutic strategies to treat human cancers expressing mutant p53 proteins  Journal Articles
• Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)  Journal Articles
• Nitrate reductase electron transport systems in mutant and in wild-type strains of neurospora  Journal Articles
• Nitrofurazone-reducing enzymes in E. coli and their role in drug activation in vivo  Journal Articles
• Nitrogenaseless Mutants of Azotobacter vinelandii  Journal Articles
• NleG Type 3 Effectors from Enterohaemorrhagic Escherichia coli Are U-Box E3 Ubiquitin Ligases  Journal Articles
• Non-Canonical Allostery in Cyclic Nucleotide Dependent Kinases  Journal Articles
• Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations  Journal Articles
• Nonrandom insertion of Tn5 into cloned human adeno virus DNA  Journal Articles
• Novel 95G>A (R32K) somatic mosaic connexin 32 mutation  Journal Articles
• Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients  Journal Articles
• Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy  Journal Articles
• Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease  Journal Articles
• Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A)  Journal Articles
• Novel Proteins That Modulate Type IV Pilus Retraction Dynamics in Pseudomonas aeruginosa  Journal Articles
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Journal Articles
• Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot  Journal Articles
• Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure  Journal Articles
• Novel insights into the cytoplasmic functions of p53  Journal Articles
• Novel method for differentiation between Trastuzumab and host adaptive response  Journal Articles
• Novel mutants of CHO cells resistant to adenosine analogs and containing biochemically altered form of adenosine kinase in cell extracts  Journal Articles
• Novel β°-Thalassemia Mutation in a Canadian Woman of British Descent (Codons 72/73, -Agtga, +T)  Journal Articles
• NovelLPLmutations associated with lipoprotein lipase deficiency: two case reports and a literature review  Journal Articles
• Nuclear import of the BTB/POZ transcriptional regulator Kaiso  Journal Articles
• Nucleotide Second Messenger‐Mediated Regulation of a Muralytic Enzyme in Streptomyces  Journal Articles
• Oestradiol decreases rat apolipoprotein AI transcription via promoter site B  Journal Articles
• Olaparib combined with chemotherapy for recurrent platinum-sensitive ovarian cancer: a randomised phase 2 trial  Journal Articles
• Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study  Journal Articles
• Olaparib tablets as maintenance therapy in patients with platinum-sensitive relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a final analysis of a double-blind, randomised, placebo-controlled, phase 3 trial  Journal Articles
• Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a double-blind, randomised, placebo-controlled, phase 3 trial  Journal Articles
• On the Road to Bacterial Cell Death  Journal Articles
• On the mutagenicity of nitrofurans  Journal Articles
• Oncogenic events regulate tissue factor expression in colorectal cancer cells: implications for tumor progression and angiogenesis  Journal Articles
• Oncolytic Viruses: Programmable Tumour Hunters  Journal Articles
• Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers  Journal Articles
• Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma  Journal Articles
• Opposing Roles of C/EBPβ and AP-1 in the Control of Fibroblast Proliferation and Growth Arrest-specific Gene Expression  Journal Articles
• Ordering Genes in a Flagella Pathway by Analysis of Expression Kinetics from Living Bacteria  Journal Articles
• Origin and Differentiation of Supernumerary Midline Glia inDrosophilaEmbryos Deficient for Apoptosis  Journal Articles
• Origins and evolution of biological novelty  Journal Articles
• Osimertinib in UntreatedEGFR-Mutated Advanced Non–Small-Cell Lung Cancer  Journal Articles
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• Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations  Journal Articles
• Overall Survival with Osimertinib in Untreated, EGFR-Mutated Advanced NSCLC  Journal Articles
• Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome  Journal Articles
• PDP1 is a key metabolic gatekeeper and modulator of drug resistance in FLT3-ITD-positive acute myeloid leukemia  Journal Articles
• PEA3, AP-1, and a unique repetitive sequence all are involved in transcriptional regulation of the breast cancer-associated gene, mammaglobin  Journal Articles
• PLASTICITY, CANALIZATION, AND DEVELOPMENTAL STABILITY OF THEDROSOPHILAWING: JOINT EFFECTS OF MUTATIONS AND DEVELOPMENTAL TEMPERATURE  Journal Articles
• POLR3A variants in hereditary spastic paraplegia and ataxia  Journal Articles
• POLRMT mutations impair mitochondrial transcription causing neurological disease  Journal Articles
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• PRY-1/Axin signaling regulates lipid metabolism in Caenorhabditis elegans  Journal Articles
• PTEN-inducible kinase 1 (PINK1)/Park6 is indispensable for normal heart function  Journal Articles
• Pacemaker activity and inhibitory neurotransmission in the colon of Ws/Ws mutant rats  Journal Articles
• Packing on the Pounds in Response to Bacterial Growth Conditions  Journal Articles
• Pactamycin resistance in CHO cells: Morphological changes induced by the drug in the wild‐type and mutant cells  Journal Articles
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• Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation  Journal Articles
• Pathbase: a database of mutant mouse pathology  Journal Articles
• Pathbase: a new reference resource and database for laboratory mouse pathology  Journal Articles
• Pathogenic adaptation of intracellular bacteria by rewiring a cis -regulatory input function  Journal Articles
• Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD  Journal Articles
• Patients with thalassemia in the United States  Journal Articles
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• Patterns of Somatic Mutations in Immunoglobulin Variable Genes  Journal Articles
• Pembrolizumab versus chemotherapy for previously untreated, PD-L1-expressing, locally advanced or metastatic non-small-cell lung cancer (KEYNOTE-042): a randomised, open-label, controlled, phase 3 trial  Journal Articles
• Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression  Journal Articles
• Peptides that form β‐sheets on hydrophobic surfaces accelerate surface‐induced insulin amyloidal aggregation  Journal Articles
• Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome)  Journal Articles
• Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C  Journal Articles
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease  Journal Articles
• Perturbed glial scaffold formation precedes axon tract malformation in Drosophila mutants  Journal Articles
• Pertussis toxin stimulates hypersensitivity and enhances nerve-mediated antigen uptake in rat intestine  Journal Articles
• Pervasive Cryptic Epistasis in Molecular Evolution  Journal Articles
• Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes  Journal Articles
• Phase 2 Study of Erlotinib in Combination With Linsitinib (OSI-906) or Placebo in Chemotherapy-Naive Patients With Non–Small-Cell Lung Cancer and Activating Epidermal Growth Factor Receptor Mutations  Journal Articles
• Phase II Study of Temsirolimus in Women With Recurrent or Metastatic Endometrial Cancer: A Trial of the NCIC Clinical Trials Group  Journal Articles
• Phase II Weekly Vinblastine for Chemotherapy-Naïve Children With Progressive Low-Grade Glioma: A Canadian Pediatric Brain Tumor Consortium Study  Journal Articles
• PhenCode: connecting ENCODE data with mutations and phenotype  Journal Articles
• Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)  Journal Articles
• Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers  Journal Articles
• Phenotypic Diversity Caused by Differential RpoS Activity among Environmental Escherichia coli Isolates  Journal Articles
• Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.  Journal Articles
• Phosphoethanolamine substitution in the lipid A of Escherichia coli O157 : H7 and its association with PmrC  Journal Articles
• Phosphorylation switches Bax from promoting to inhibiting apoptosis thereby increasing drug resistance  Journal Articles
• Photodynamic Therapy Resistant Human Colon Carcinoma HT29 Cells Show Cross‐Resistance to UVA but not UVC Light  Journal Articles
• Phylogeny and molecular signatures (conserved proteins and indels) that are specific for the Bacteroidetes and Chlorobi species  Journal Articles
• Physical Activity During Adolescence and Early-adulthood and Ovarian Cancer Among Women with a BRCA1 or BRCA2 Mutation  Journal Articles
• Physical Interaction with Human Tumor-derived p53 Mutants Inhibits p63 Activities  Journal Articles
• Physical and Functional Interaction between p53 Mutants and Different Isoforms of p73  Journal Articles
• Physiological characterization of a Neurospora crassa mutant with impaired regulation of nitrate reductase  Journal Articles
• PilF Is an Outer Membrane Lipoprotein Required for Multimerization and Localization of thePseudomonas aeruginosaType IV Pilus Secretin  Journal Articles
• PilM/N/O/P Proteins Form an Inner Membrane Complex That Affects the Stability of the Pseudomonas aeruginosa Type IV Pilus Secretin  Journal Articles
• Plasmid-borne Tn5 insertion mutation resulting in accumulation of gentisate from salicylate  Journal Articles
• Plasticity, Hippocampal Place Cells, and Cognitive Maps  Journal Articles
• Pleiotropic mutations in Saccharomyces cerevisiae affecting sterol uptake and metabolism  Journal Articles
• Podophyllotoxin resistance: A codominant selection system for quantitative mutagenesis studies in mammalian cells  Journal Articles
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• Podophyllotoxin-resistant mutants of Chinese hamster ovary cells: cross-resistance studies with various microtubule inhibitors and podophyllotoxin analogues.  Journal Articles
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• Polyglutamine-expanded ataxin-1 recruits Cu/Zn-superoxide dismutase into the nucleus of HeLa cells  Journal Articles
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• Polyomavirus-plasmid recombinants capable of replicating have an enhanced transforming potential.  Journal Articles
• Positive selection for loss of RpoS function in Escherichia coli  Journal Articles
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• Predicting novel disease mutations in the cardiac sodium channel  Journal Articles
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• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Journal Articles
• Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing  Journal Articles
• Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening  Journal Articles
• Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study  Journal Articles
• Prevalence of Emergent Dolutegravir Resistance Mutations in People Living with HIV: A Rapid Scoping Review  Journal Articles
• Prevalence of Epistasis in the Evolution of Influenza A Surface Proteins  Journal Articles
• Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene  Journal Articles
• Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene  Journal Articles
• Probing ADAMTS13 Substrate Specificity using Phage Display  Journal Articles
• Processing of Tumor Antigen Differentially Impacts the Development of Helper and Effector CD4+ T-cell Responses  Journal Articles
• Profiling neuronal ion channelopathies with non-invasive brain imaging and dynamic causal models: Case studies of single gene mutations  Journal Articles
• Promising response of dabrafenib, trametinib, and osimertinib combination therapy for concomitant BRAF and EGFR-TKI resistance mutations  Journal Articles
• Prophylactic Mastectomy for Women withBRCA1andBRCA2Mutations — Facts and Controversy  Journal Articles
• Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group  Journal Articles
• Prospective Cost-Effectiveness Analysis of Cetuximab in Metastatic Colorectal Cancer: Evaluation of National Cancer Institute of Canada Clinical Trials Group CO.17 Trial  Journal Articles
• Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: The Transthyretin Amyloidosis Cardiac Study (TRACS)  Journal Articles
• Prostate Cancer Transcriptomic Regulation by the Interplay of Germline Risk Alleles, Somatic Mutations, and 3D Genomic Architecture  Journal Articles
• Protection against Genital Herpes Infection in Mice Immunized under Different Hormonal Conditions Correlates with Induction of Vagina-Associated Lymphoid Tissue  Journal Articles
• Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene  Journal Articles
• Protein IX, a minor component of the human adenovirus capsid, is essential for the packaging of full length genomes.  Journal Articles
• Protein misfolding in endoplasmic reticulum stress with applications to renal diseases  Journal Articles
• Proteolytic Cleavage of Ataxin-7 by Caspase-7 Modulates Cellular Toxicity and Transcriptional Dysregulation  Journal Articles
• Prothrombin 20210A and familial thrombophilia  Journal Articles
• Pseudomonas aeruginosa Minor Pilins Prime Type IVa Pilus Assembly and Promote Surface Display of the PilY1 Adhesin  Journal Articles
• Pseudomonas aeruginosa d-Arabinofuranose Biosynthetic Pathway and Its Role in Type IV Pilus Assembly  Journal Articles
• Pseudomonas aeruginosa defends against phages through type IV pilus glycosylation  Journal Articles
• Pseudomonas aeruginosa type IV minor pilins and PilY1 regulate virulence by modulating FimS-AlgR activity  Journal Articles
• Psychotic Symptoms in Frontotemporal Dementia  Journal Articles
• Pulmonary Fibrosis  Journal Articles
• Purification and properties of dihydrofolate reductase from methotrexate-sensitive and methotrexate-resistant Chinese hamster ovary cells  Journal Articles
• Quantitative Genome-Wide Genetic Interaction Screens Reveal Global Epistatic Relationships of Protein Complexes in Escherichia coli  Journal Articles
• Quantitative analysis of mutant p53 protein in breast tumor cytosols and study of its association with other biochemical prognostic indicators in breast cancer  Journal Articles
• Quantitative mutagenesis at the adenosine kinase locus in Chinese hamster ovary cells  Journal Articles
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• Quizartinib for the treatment of acute myeloid leukemia  Journal Articles
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• RNA Sequence Evolution With Secondary Structure Constraints: Comparison of Substitution Rate Models Using Maximum-Likelihood Methods  Journal Articles
• RNA association and nucleocytoplasmic shuttling by ataxin-1  Journal Articles
• RNA secondary structure: physical and computational aspects  Journal Articles
• Radiation-induced carcinogenesis:Studies using human epithelial cell lines  Journal Articles
• Radiotherapy for Breast Cancer  Journal Articles
• Rapid Insulin-like Growth Factor-1-induced Changes in Granulosa Cell Thrombospondin-1 Expression In Vitro  Journal Articles
• Rapid progression of prostate cancer in men with a BRCA2 mutation  Journal Articles
• Reactivation of mutant p53 by a dietary-related compound phenethyl isothiocyanate inhibits tumor growth  Journal Articles
• Recent insights into neuromuscular junction biology in Duchenne muscular dystrophy: Impacts, challenges, and opportunities  Journal Articles
• Recessive CLCN1 mutation presenting as thomsen disease  Journal Articles
• Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.  Journal Articles
• Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia.  Journal Articles
• Recommendations on data sharing in HIV drug resistance research  Journal Articles
• Recovery of the radiation survival-curve shoulder in CHO-KI, XRS-5 and revertant XRS-5 populations  Journal Articles
• Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy  Journal Articles
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• Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in AdolescentShank3Null Mutant Mice  Journal Articles
• Reduced Virulence of Group A Streptococcal Tn 916 Mutants That Do Not Produce Streptolysin S  Journal Articles
• Reduction of blood group A antigen on erythrocytes in a patient with myelodysplastic syndrome harboring somatic mutations in RUNX1 and GATA2  Journal Articles
• Reduction of thrombus size in murine models of thrombosis following administration of recombinant α1-proteinase inhibitor mutant proteins  Journal Articles
• Redundant and non-functional guide RNA genes in Trypanosoma brucei are a consequence of multiple genes per minicircle  Journal Articles
• Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia  Journal Articles
• Regulation of Acidification and Apoptosis by SHP-1 and Bcl-2  Journal Articles
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• Regulation of Phosphate Assimilation in Rhizobium (Sinorhizobium) meliloti  Journal Articles
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• Regulation of a muralytic enzyme-encoding gene by two non-coding RNAs  Journal Articles
• Regulation of hydroperoxidase (catalase) expression inEscherichia coli  Journal Articles
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• Relationship between neural crest cell specification and rare ocular diseases  Journal Articles
• Relative Contribution of Bystander and Targeted Cell Killing to the Low-Dose Region of the Radiation Dose–Response Curve  Journal Articles
• Relative contribution of bystander and targeted cell killing to the low-dose region of the radiation dose-response curve.  Journal Articles
• Reliable detection of somatic mutations in solid tissues by laser-capture microdissection and low-input DNA sequencing  Journal Articles
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• Reprogramming of Telomerase by Expression of Mutant Telomerase RNA Template in Human Cells Leads to Altered Telomeres That Correlate with Reduced Cell Viability  Journal Articles
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• Salsalate, but not metformin or canagliflozin, slows kidney cyst growth in an adult-onset mouse model of polycystic kidney disease  Journal Articles
• Sampling the Antibiotic Resistome  Journal Articles
• SapB and the chaplins: connections between morphogenetic proteins in Streptomyces coelicolor  Journal Articles
• Sarcoplasmic reticulum Ca2+ pump mRNA stability in cardiac and smooth muscle: role of poly A+ tail length  Journal Articles
• Second site mutations specifically suppress the Fix- phenotype of Rhizobium meliloti ndvF mutations on alfalfa: identification of a conditional ndvF-dependent mucoid colony phenotype.  Journal Articles
• Second symbiotic megaplasmid in Rhizobium meliloti carrying exopolysaccharide and thiamine synthesis genes  Journal Articles
• Second-Line Treatment of Non-Small Cell Lung Cancer: New Developments for Tumours Not Harbouring Targetable Oncogenic Driver Mutations  Journal Articles
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• Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees  Journal Articles
• Selecting a BRCA risk assessment model for use in a familial cancer clinic  Journal Articles
• Selective assay for herpes simplex viruses expressing thymidine kinase  Journal Articles
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• Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma  Journal Articles
• Separating the effects of mutation and selection in producing DNA skew in bacterial chromosomes  Journal Articles
• Sequence-directed mutagenesis: evidence from a phylogenetic history of human alpha-interferon genes.  Journal Articles
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• Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C  Journal Articles
• Severe thrombophilia in a factor V‐deficient patient homozygous for the Ala2086Asp mutation (FV Besançon)  Journal Articles
• Sex-Dependent Differences in Spontaneous Autoimmunity in Adult 3xTg-AD Mice  Journal Articles
• Sex-Linked Mammalian Sperm Proteins Evolve Faster Than Autosomal Ones  Journal Articles
• Sexual Selection Does Not Increase the Rate of Compensatory Adaptation to a Mutation Influencing a Secondary Sexual Trait inDrosophila melanogaster  Journal Articles
• Sexual Selection and Maintenance of Sex: Evidence from Comparisons of Rates of Genomic Accumulation of Mutations and Divergence of Sex-Related Genes in Sexual and Hermaphroditic Species of Caenorhabditis  Journal Articles
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• Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?  Journal Articles
• Sickle cell disease: no longer a single gene disorder  Journal Articles
• Signature Celebration of Gastroenterology , Colorectal Cancer  Journal Articles
• Silencing cryptic specialized metabolism in Streptomyces by the nucleoid-associated protein Lsr2  Journal Articles
• Simoctocog Alfa (Nuwiq) in Previously Untreated Patients with Severe Haemophilia A: Final Results of the NuProtect Study  Journal Articles
• Simultaneous induction and repression of nitrate reductase and TPNH cytochrome c reductase in Neurospora crassa  Journal Articles
• Single-Residue Changes in the C-Terminal Disulfide-Bonded Loop of thePseudomonas aeruginosaType IV Pilin Influence Pilus Assembly and Twitching Motility  Journal Articles
• Site-directed mutagenesis of the src gene of Rous sarcoma virus: construction and characterization of a deletion mutant temperature sensitive for transformation  Journal Articles
• Site-directed point mutation in the src gene oF rous sarcoma virus results in an inactive src gene product  Journal Articles
• Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern  Journal Articles
• Smad7 Binds to Smurf2 to Form an E3 Ubiquitin Ligase that Targets the TGFβ Receptor for Degradation  Journal Articles
• Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada  Journal Articles
• Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype  Journal Articles
• Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations  Journal Articles
• Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy  Journal Articles
• Somatic immunoglobulin sequence divergence and its implications for studies of evolutionary divergence  Journal Articles
• Somatic mutation landscapes at single-molecule resolution  Journal Articles
• Sorafenib Maintenance After Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With FLT3–Internal Tandem Duplication Mutation (SORMAIN)  Journal Articles
• Spatial heterogeneity in resources alters selective dynamics in Drosophila melanogaster  Journal Articles
• Spatial-specific TGF-β1 adenoviral expression determines morphogenetic phenotypes in embryonic mouse lung  Journal Articles
• Spectrum of β-Thalassemia Mutations in Egypt  Journal Articles
• Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase  Journal Articles
• Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia  Journal Articles
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• Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β ⁰ -Thalassemia  Journal Articles
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• Spontaneous and therapeutic abortions and the risk of breast cancer among BRCAmutation carriers  Journal Articles
• SseA is required for translocation of Salmonella pathogenicity island-2 effectors into host cells  Journal Articles
• Stability strengths oncogenic activity  Journal Articles
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• Stationary phase expression of the arginine biosynthetic operon argCBH in Escherichia coli  Journal Articles
• Stationary phase-induction of G→T mutations in Escherichia coli  Journal Articles
• Steel (Sl) mutation in mice: Identification of mutant embryos early in development  Journal Articles
• Steroid metabolism in testicular tissue of genetic mutant mice  Journal Articles
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• Symbiotic properties of C4-dicarboxylic acid transport mutants of Rhizobium leguminosarum  Journal Articles
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• The Amino Terminus of Bacillus subtilis TagB Possesses Separable Localization and Functional Properties  Journal Articles
• The Ancient Drug Salicylate Directly Activates AMP-Activated Protein Kinase  Journal Articles
• The BH3 domain of BAD fused to the Antennapedia peptide induces apoptosis via its alpha helical structure and independent of Bcl-2  Journal Articles
• The Catenin p120^ctn Interacts with Kaiso, a Novel BTB/POZ Domain Zinc Finger Transcription Factor  Journal Articles
• The Circadian Clock Gene, Bmal1, Regulates Intestinal Stem Cell Signaling and Represses Tumor Initiation  Journal Articles
• The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations  Journal Articles
• The Conditional Nature of Genetic Interactions: The Consequences of Wild-Type Backgrounds on Mutational Interactions in a Genome-Wide Modifier Screen  Journal Articles
• The Cystic Fibrosis Gene: A Molecular Genetic Perspective  Journal Articles
• The DNA methylation landscape of advanced prostate cancer  Journal Articles
• The Double-Stranded RNA-Binding Protein Staufen Is Incorporated in Human Immunodeficiency Virus Type 1: Evidence for a Role in Genomic RNA Encapsidation  Journal Articles
• The Drosophila Gene RanBPM Functions in the Mushroom Body to Regulate Larval Behavior  Journal Articles
• The Drosophila centrosome-associated protein CP190 is essential for viability but not for cell division.  Journal Articles
• The E2F cell cycle regulator is required for Drosophila nurse cell DNA replication and apoptosis  Journal Articles
• The Effects of Weak Genetic Perturbations on the Transcriptome of the Wing Imaginal Disc and Its Association With Wing Shape in Drosophila melanogaster  Journal Articles
• The Fallopian Tube as the Origin of High Grade Serous Ovarian Cancer: Review of a Paradigm Shift  Journal Articles
• The First Report of a Homozygous Codons 9/10 (+T) β-Thalassemia Mutation in a Turkish Patient  Journal Articles
• The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions  Journal Articles
• The Identification of 5-Hydroxyl-L-norvaline in Cultures of Pyridoxine Auxotrophs of Escherichia coli B  Journal Articles
• The Influence of Lethal Mutations on the Quantification of Radiation Transformation Frequencies  Journal Articles
• The Integrated Genomic Landscape of Thymic Epithelial Tumors  Journal Articles
• The Kinetics of Synthesis of Early Viral Proteins in KB Cells Infected with Wild-type and Transformation-defective Host-range Mutants of Human Adenovirus Type 5  Journal Articles
• The LysR-type PcaQ protein regulates expression of a protocatechuate-inducible ABC-type transport system in Sinorhizobium meliloti  Journal Articles
• The Novel Catenin p120casBinds Classical Cadherins and Induces an Unusual Morphological Phenotype in NIH3T3 Fibroblasts  Journal Articles
• The Pea3 Ets transcription factor regulates differentiation of multipotent progenitor cells during mammary gland development  Journal Articles
• The Pel and Psl polysaccharides provide Pseudomonas aeruginosa structural redundancy within the biofilm matrix  Journal Articles
• The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome  Journal Articles
• The Prognostic Implication of the Basal-Like (Cyclin Ehigh/p27low/p53+/Glomeruloid-Microvascular-Proliferation+) Phenotype of BRCA1 -Related Breast Cancer  Journal Articles
• The Projection Analysis of NMR Chemical Shifts Reveals Extended EPAC Autoinhibition Determinants  Journal Articles
• The RING‐finger scaffold protein Plenty of SH3s targets TAK1 to control immunity signalling in Drosophila  Journal Articles
• The Relationship between Genotype and Exercise Tolerance in Children with Cystic Fibrosis  Journal Articles
• The Risk of Recurrent Venous Thromboembolism in Carriers and Non-carriers of the G1691A Allele in the Coagulation Factor V Gene and the G20210A Allele in the Prothrombin Gene  Journal Articles
• The Role of Single-stranded DNA in Flp-mediated Strand Exchange  Journal Articles
• The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology  Journal Articles
• The Solution Structure and Dynamics of an Arc Repressor Mutant Reveal Premelting Conformational Changes Related to DNA Binding  Journal Articles
• The Structural Integrity of Anion Binding Exosite I of Thrombin Is Required and Sufficient for Timely Cleavage and Activation of Factor V and Factor VIII  Journal Articles
• The T----C substitution at nucleotide + 1570 of the beta-globin gene is a polymorphism [letter; comment]  Journal Articles
• The Winged Helix Domain of CSB Regulates RNAPII Occupancy at Promoter Proximal Pause Sites  Journal Articles
• The advantage of recombination when selection is acting at many genetic Loci  Journal Articles
• The alpha-globin gene cluster: genetics and disorders.  Journal Articles
• The amino terminus of polyomavirus middle T antigen is required for transformation  Journal Articles
• The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers  Journal Articles
• The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance  Journal Articles
• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders  Journal Articles
• The cytoplasmic domain is critical to the tumor suppressor activity of TSLC1 in non-small cell lung cancer.  Journal Articles
• The drosophila protein asp is involved in microtubule organization during spindle formation and cytokinesis.  Journal Articles
• The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes  Journal Articles
• The effect of E1 mutations on biochemical transformation by an adenovirus carrying the herpes simplex virus thymidine kinase gene in region E3  Journal Articles
• The environmental and genetic regulation of obake expressivity: morphogenetic fields as evolvable systems  Journal Articles
• The execution of the transcriptional axis mutant p53, E2F1 and ID4 promotes tumor neo-angiogenesis  Journal Articles
• The expression of a novel antisense gene mediates incompatibility within the large repABC family of α‐proteobacterial plasmids  Journal Articles
• The gene cluster for chloramphenicol biosynthesis in Streptomyces venezuelae ISP5230 includes novel shikimate pathway homologues and a monomodular non-ribosomal peptide synthetase gene The GenBank accession number for the sequence reported in this paper is AF262220.  Journal Articles
• The hemochromatosis gene.  Journal Articles
• The hereditary adult-onset ataxias in South Africa  Journal Articles
• The impact of prophylactic salpingo‐oophorectomy on quality of life and psychological distress in women with a BRCA mutation  Journal Articles
• The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study  Journal Articles
• The incidence of pancreatic cancer in women with a BRCA1 or BRCA2 mutation.  Journal Articles
• The inhibition of endocytosis affects HDL-lipid uptake mediated by the human scavenger receptor class B type I  Journal Articles
• The isolation and preliminary characterization of somatic cell mutants resistant to the protein synthesis inhibitor—Emetine  Journal Articles
• The major site of tyrosine phosphorylation in polyomavirus middle T antigen is not required for transformation  Journal Articles
• The methylenetetrahydrofolate reductase C677T mutation induces cell‐specific changes in genomic DNA methylation and uracil misincorporation: A possible molecular basis for the site‐specific cancer risk modification  Journal Articles
• The midline of the drosophila central nervous system: A model for the genetic analysis of cell fate, cell migration, and growth cone guidance  Journal Articles
• The molecular basis of emetine resistance in chinese hamster ovary cells: Alteration in the 40S ribosomal subunit  Journal Articles
• The mutant p53‐ID4 complex controls VEGFA isoforms by recruiting lncRNA MALAT1  Journal Articles
• The mutational landscape of normal human endometrial epithelium  Journal Articles
• The non-motile phenotype of Salmonella hha ydgT mutants is mediated through PefI-SrgD  Journal Articles
• The oncogenic role of circPVT1 in head and neck squamous cell carcinoma is mediated through the mutant p53/YAP/TEAD transcription-competent complex  Journal Articles
• The origin and spread of a cooperative replicase in a prebiotic chemical system  Journal Articles
• The origins and potential future of SARS-CoV-2 variants of concern in the evolving COVID-19 pandemic  Journal Articles
• The orphan pentameric ligand-gated ion channelpHCl-2is gated by pH and regulates fluid secretion inDrosophilaMalpighian tubules  Journal Articles
• The paradox of HBV evolution as revealed from a 16th century mummy  Journal Articles
• The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Journal Articles
• The risk of major bleeding in patients with factor V Leiden or prothrombin G20210A gene mutation while on extended anticoagulant treatment for venous thromboembolism  Journal Articles
• The risk of recurrent venous thromboembolism in carriers and non-carriers of the G1691A allele in the coagulation factor V gene and the G20210A allele in the prothrombin gene. DURAC Trial Study Group. Duration of Anticoagulation.  Journal Articles
• The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT  Journal Articles
• The risks of cancer in older women with BRCA pathogenic variants: How far have we come?  Journal Articles
• The role of ICP0-Null HSV-1 and interferon signaling defects in the effective treatment of breast adenocarcinoma  Journal Articles
• The role of molybdenum in the synthesis of Neurospora nitrate reductase  Journal Articles
• The sex-limited effects of mutations in the EGFR and TGF-β signaling pathways on shape and size sexual dimorphism and allometry in the Drosophila wing  Journal Articles
• The status of glycolaldehyde in the biosynthesis of vitamin B6.  Journal Articles
• The survival probability of a mutant in a multidimensional population  Journal Articles
• The tamas Gene, Identified as a Mutation That Disrupts Larval Behavior in Drosophila melanogaster, Codes for the Mitochondrial DNA Polymerase Catalytic Subunit (DNApol-γ125)  Journal Articles
• The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis  Journal Articles
• The tissue polarity gene nemo carries out multiple roles in patterning during Drosophila development  Journal Articles
• The worm turns for antimicrobial discovery  Journal Articles
• ThemviNhomolog inBurkholderia pseudomalleiis essential for viability and virulence  Journal Articles
• Therapeutic Potential of Spleen Tyrosine Kinase Inhibition for Treating High-Risk Precursor B Cell Acute Lymphoblastic Leukemia  Journal Articles
• Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas  Journal Articles
• Therapy for Stage IV Non–Small-Cell Lung Cancer With Driver Alterations: ASCO and OH (CCO) Joint Guideline Update  Journal Articles
• There is more to life and death than mitochondria: Bcl-2 proteins at the endoplasmic reticulum  Journal Articles
• Thiostrepton Hijacks Pyoverdine Receptors To Inhibit Growth of Pseudomonas aeruginosa  Journal Articles
• Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening  Journal Articles
• Three New β-Thalassemia Mutations with Varying Degrees of Severity  Journal Articles
• Three rhamnosyltransferases responsible for assembly of the A‐band D‐rhamnan polysaccharide in Pseudomonas aeruginosa: a fourth transferase, WbpL, is required for the initiation of both A‐band and B‐band lipopolysaccharide synthesis  Journal Articles
• Three sodium channel mutations from Aedes albopictus confer resistance to Type I, but not Type II pyrethroids  Journal Articles
• Thromboepidemiology: Identifying patients with heritable risk for thrombin-mediated thromboembolic events  Journal Articles
• Thrombophilia and location of venous thromboembolism  Journal Articles
• Thrombosis in children with acute lymphoblastic leukemia  Journal Articles
• Thrombosis in inherited factor VII deficiency  Journal Articles
• Tissue-Specific Regulation of the LIM Homeobox Gene lin-11 during Development of the Caenorhabditis elegans Egg-Laying System  Journal Articles
• Tn5 mutagenesis of the transforming genes of human adenovirus type 5  Journal Articles
• Tracing Sequence Diversity Change of RNA-Cleaving Deoxyribozymes under Increasing Selection Pressure during in Vitro Selection  Journal Articles
• Trait-to-Gene  Journal Articles
• Transcriptional Activation by DNA-Binding Derivatives of HSV-1 VP16 That Lack the Carboxyl-Terminal Acidic Activation Domain  Journal Articles
• Transcriptional induction of the conserved alternative sigma factor RpoS in Escherichia coli is dependent on BarA, a probable two‐component regulator  Journal Articles
• Transcriptional regulation of katE in Escherichia coli K-12  Journal Articles
• Transcriptional upregulation of p21/WAF/Cip1 in myeloid leukemic blasts expressing AML1-ETO  Journal Articles
• Transcriptomic profiling of gamma ray induced mutants from the CGL1 human hybrid cell system reveals novel insights into the mechanisms of radiation-induced carcinogenesis  Journal Articles
• Transection of dysmyelinated optic nerve axons in adult rats lacking myelin basic protein  Journal Articles
• Transformation of rodent cells by DNA extracted from transformation-defective adenovirus mutants  Journal Articles
• Transgenic mice expressing the βAPP695SWE mutation: effects on exploratory activity, anxiety, and motor coordination  Journal Articles
• Transient Expression of Na + /H + Exchanger Isoform NHE-2 in LLC-PK 1 Cells: Inhibition of Endogenous NHE-3 and Regulation by Hypertonicity  Journal Articles
• Transient caloric restriction in early adulthood hastens disease endpoint in male, but not female, Cu/Zn‐SOD mutant G93A mice  Journal Articles
• Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report  Journal Articles
• Transient virulence of emerging pathogens  Journal Articles
• Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation  Journal Articles
• Treatment outcomes for newly diagnosed, treatment-naïve TP53-mutated acute myeloid leukemia: a systematic review and meta-analysis  Journal Articles
• Treatment patterns and outcomes in KRAS‐positive advanced NSCLC patients previously treated with immune checkpoint inhibitors: A Canada-wide real-world, multi-center, retrospective cohort study  Journal Articles
• Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia  Journal Articles
• Tumor antigens of human ad5 in transformed cells and in cells infected with transformation-defective host-range mutants  Journal Articles
• Tumor protein expression of the DNA repair gene BRCA1 and lethal prostate cancer  Journal Articles
• Two Conserved Histidine Residues Are Critical to the Function of the TagF-like Family of Enzymes  Journal Articles
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Journal Articles
• Two distinct TP53 mutations in HNSCC primary tumor: Only one circulates in the blood  Journal Articles
• Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]  Journal Articles
• Two novel mitochondrial tRNA mutations, A7495G (tRNASer(UCN)) and C5577T (tRNATrp), are associated with seizures and cardiac dysfunction  Journal Articles
• Type I nitroreductases of Escherichia coli  Journal Articles
• Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.  Journal Articles
• Type IV pilins regulate their own expression via direct intramembrane interactions with the sensor kinase PilS  Journal Articles
• Type and intensity of FVIII exposure on inhibitor development in PUPs with haemophilia A  Journal Articles
• Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis  Journal Articles
• Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.  Journal Articles
• Use of In-Biofilm Expression Technology To Identify Genes Involved in Pseudomonas aeruginosa Biofilm Development  Journal Articles
• Use of mutation profiles to refine the classification of endometrial carcinomas.  Journal Articles
• Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care  Journal Articles
• VSV strains with defects in their ability to shutdown innate immunity are potent systemic anti-cancer agents  Journal Articles
• Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V  Journal Articles
• Variable distribution of mutant mitochondria1 DNAs (tRNA ^Leu[3243]) in tissues of symptomatic relatives with MELAS  Journal Articles
• Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.  Journal Articles
• Variants of the orexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity  Journal Articles
• Variation and heritability of Hb F and F‐cells among β‐thalassemia heterozygotes in Hong Kong  Journal Articles
• W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity  Journal Articles
• WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma  Journal Articles
• WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations  Journal Articles
• Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers  Conferences
• Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias  Journal Articles
• Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Journal Articles
• Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families  Journal Articles
• Why Does the Inner-Helix Mutation A413C Double the Stoichiometry of Kv1.3 Channel Block by Emopamil but Not by Verapamil?  Journal Articles
• Workflow and Throughput of Commercial Assays to Detect Mycoplasma genitalium and Macrolide Resistance–Mediating Mutations  Journal Articles
• XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediated telomere shortening  Journal Articles
• XRCC4's interaction with XLF is required for coding (but not signal) end joining  Journal Articles
• ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.  Journal Articles
• c.1058C>T variant in the SERPINC1 gene is pathogenic for antithrombin deficiency  Journal Articles
• l-Cysteine is required for induced antibiotic resistance in actively swarming Salmonella enterica serovar Typhimurium  Journal Articles
• p53 is involved in the differentiation but not in the differentiation-associated apoptosis of myoblasts  Journal Articles
• p53 mutations and protein expression in primary cultures of normal oral mucosa in smokers and non-smokers  Journal Articles
• p53-paralog DNp73 oncogene is repressed by IFNα/STAT2 through the recruitment of the Ezh2 polycomb group transcriptional repressor  Journal Articles
• p73-Mediated Chemosensitivity: A Preferential Target of Oncogenic Mutant p53  Journal Articles
• tBid Undergoes Multiple Conformational Changes at the Membrane Required for Bax Activation  Journal Articles
• α-Mannosidase 2C1 attenuates PTEN function in prostate cancer cells  Journal Articles
• α‐Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis  Journal Articles
• β ⁰ -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]  Journal Articles
• β-Catenin Overexpression in the Metanephric Mesenchyme Leads to Renal Dysplasia Genesis via Cell-Autonomous and Non–Cell-Autonomous Mechanisms  Journal Articles
• β-Subunit of the voltage-gated Ca ²⁺ channel Cav1.2 drives signaling to the nucleus via H-Ras  Journal Articles
• β-arrestin1/YAP/mutant p53 complexes orchestrate the endothelin A receptor signaling in high-grade serous ovarian cancer  Journal Articles
• β⁺-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]  Journal Articles
• γT‐S195A thrombin reduces the anticoagulant effects of dabigatran in vitro and in vivo  Journal Articles
• “Lethal Mutations” a Misnomer or the Start of a Scientific Revolution?  Journal Articles