Mutation Concept

subject area of

• BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50  Academic Article
• Caenorhabditis elegansHistone Deacetylasehda-1Is Required for Morphogenesis of the Vulva and LIN-12/Notch-Mediated Specification of Uterine Cell Fates  Academic Article
• GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects  Academic Article
• IRAK-4 Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells  Academic Article
• Id2gene is a transcriptional target of the protein complex mutant p53/E2F1  Academic Article
• O⁶-Ethylguanine and O⁶-benzylguanine incorporated site-specifically in codon 12 of the rat H-ras gene induce semi-targeted as well as targeted mutations in Rat4 cells  Academic Article
• Salmonella Produces an O-Antigen Capsule Regulated by AgfD and Important for Environmental Persistence  Academic Article
• Sinorhizobium meliloti phospholipase C required for lipid remodeling during phosphorus limitation  Academic Article
• ampCgene expression in promoter mutants of cefoxitin-resistantEscherichia coliclinical isolates  Academic Article
• TSPEARvariants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Academic Article
• YAP enhances the pro‐proliferative transcriptional activity of mutant p53 proteins  Academic Article
• A Deoxyribozyme with a Novel Guanine Quartet-Helix Pseudoknot Structure  Academic Article
• A Highly Dynamic Loop of the Pseudomonas aeruginosa PA14 Type IV Pilin Is Essential for Pilus Assembly  Academic Article
• A Mendelian Randomization-Based Approach to Identify Early and Sensitive Diagnostic Biomarkers of Disease  Academic Article
• A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy  Academic Article
• A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems  Academic Article
• A Mutation in the Intracellular Loop III/IV of Mosquito Sodium Channel Synergizes the Effect of Mutations in Helix IIS6 on Pyrethroid Resistance  Academic Article
• 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  Academic Article
• A New Mutation in the Thyroid Hormone Receptor (TR) β Gene (V458A) in a Family with Resistance to Thyroid Hormone (RTH)  Academic Article
• A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog  Academic Article
• A Novel Sickling Hemoglobinopathy  Academic Article
• A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus  Academic Article
• A Population Genetics Model for Multiple Quantitative Traits Exhibiting Pleiotropy and Epistasis  Academic Article
• A Population-Based Study of Dystrophin Mutations in Canada  Academic Article
• A Role of p73 in Mitotic Exit  Academic Article
• A Single Amino Acid Change in the Response Regulator PhoP, Acquired during Yersinia pestis Evolution, Affects PhoP Target Gene Transcription and Polymyxin B Susceptibility  Academic Article
• A Sinorhizobium meliloti minE mutant has an altered morphology and exhibits defects in legume symbiosis  Academic Article
• A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F  Academic Article
• A Thiolate Anion Buried within the Hydrocarbon Ruler Perturbs PagP Lipid Acyl Chain Selection  Academic Article
• A Unified Model of Codon Reassignment in Alternative Genetic Codes  Academic Article
• A cytosolic herpes simplex virus protein inhibits antigen presentation to CD8+ T lymphocytes  Academic Article
• A divergentPseudomonas aeruginosapalmitoyltransferase essential for cystic fibrosis-specific lipid A  Academic Article
• A guide for the performance of the Chinese hamster ovary cell/hypoxanthine-guanine phosphoribosyl transferase gene mutation assay  Academic Article
• A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders  Academic Article
• A lacZ transgenic mouse assay for the detection of mutations in follicular granulosa cells  Academic Article
• A molecular genetic study of factor XI deficiency  Academic Article
• A multiplexable assay for screening antibiotic lethality against drug-tolerant bacteria  Academic Article
• A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations  Academic Article
• A myogenic motor pattern in mice lacking myenteric interstitial cells of Cajal explained by a second coupled oscillator network  Academic Article
• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2  Academic Article
• A novel fluorescent reporter sensitive to serine mis-incorporation  Academic Article
• A novel function for the competence inducing peptide, XIP, as a cell death effector ofStreptococcus mutans  Academic Article
• A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease  Academic Article
• A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene  Academic Article
• A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features  Academic Article
• A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome  Academic Article
• 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  Academic Article
• 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  Academic Article
• A plasmid vehicle suitable for the molecular cloning and characterization of mammalian promoters  Academic Article
• A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL  Academic Article
• A putative Lipid Transfer Protein involved in systemic resistance signaling in Arabidopsis  Academic Article
• A randomized phase II study of cediranib alone versus cediranib in combination with dasatinib in docetaxel resistant, castration resistant prostate cancer patients  Academic Article
• A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia  Academic Article
• A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy  Academic Article
• A shotgun lipidomics approach in Sinorhizobium meliloti as a tool in functional genomics  Academic Article
• A shotgun lipidomics study of a putative lysophosphatidic acid acyl transferase (PlsC) in Sinorhizobium meliloti  Academic Article
• A simple technique for the rescue of early region I mutations into infectious human adenovirus type 5  Academic Article
• A source of small repeats in genomic DNA.  Academic Article
• A standardised method for interpreting the association between mutations and phenotypic drug resistance inMycobacterium tuberculosis  Academic Article
• 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  Academic Article
• A transgenic mouse model demonstrating the oncogenic role of mutations in the polycomb-group gene EZH2 in lymphomagenesis  Academic Article
• A unique BRCA1 mutation identified in Mongolia  Academic Article
• A useful restriction analysis for the determination of human antithrombin III variants with mutations from Ala 382 to Ala 384  Academic Article
• A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β⁰-thalassaemia homozygotes  Academic Article
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Academic Article
• AML refractory to primary induction with Ida-FLAG has a poor clinical outcome  Academic Article
• AMPK-Dependent Inhibitory Phosphorylation of ACC Is Not Essential for Maintaining Myocardial Fatty Acid Oxidation  Academic Article
• ATM regulates proteasome-dependent subnuclear localization of TRF1, which is important for telomere maintenance  Academic Article
• Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes  Academic Article
• Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas  Academic Article
• Absence of gene amplification in human cell mutants resistant to cardiac glycosides  Academic Article
• Access and Binding of Local Anesthetics in the Closed Sodium Channel  Academic Article
• Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis  Academic Article
• Achondroplasia–hypochondroplasia complex in a newborn infant  Academic Article
• Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers  Academic Article
• Activated protein C resistance and low molecular weight lipoprotein (a): dual pathogens for atherothrombosis?  Academic Article
• Activating AKT1 and PIK3CA Mutations in Metastatic Castration-Resistant Prostate Cancer  Academic Article
• Activation of a recombinant human factor VII structural analogue alters its affinity of binding to tissue factor  Academic Article
• Adaptation in bacterial CRISPR-Cas immunity can be driven by defective phages  Academic Article
• Adenosine Kinase Deficiency Is Associated with Developmental Abnormalities and Reduced Transmethylation  Academic Article
• Adenosine-AMP exchange activity is an integral part of the mammalian adenosine kinase  Academic Article
• Age-Related Resistance in Arabidopsis thaliana Involves the MADS-Domain Transcription Factor SHORT VEGETATIVE PHASE and Direct Action of Salicylic Acid on Pseudomonas syringae  Academic Article
• Age-Related Resistance in Arabidopsis Is a Developmentally Regulated Defense Response to Pseudomonas syringae  Academic Article
• Alanine to valine substitutions in the pore helix IIIP1 and linker-helix IIIL45 confer cockroach sodium channel resistance to DDT and pyrethroids  Academic Article
• Allelic variants of the amylose extender mutation of maize demonstrate phenotypic variation in starch structure resulting from modified protein-protein interactions  Academic Article
• Alpha-thalassaemia and population health in Southeast Asia  Academic Article
• Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2  Academic Article
• Altering Heparin Cofactor II at VAL439 (P6) either Impairs Inhibition of Thrombin or Confers Elastase Resistance  Academic Article
• Amber, ochre and opal suppressor tRNA genes derived from a human serine tRNA gene.  Academic Article
• Amino Acid Substitutions in the Herpes Simplex Virus Transactivator VP16 Uncouple Direct Protein-Protein Interaction and DNA Binding from Complex Assembly and Transactivation  Academic Article
• An msbB Homologue Carried in Plasmid pO157 Encodes an Acyltransferase Involved in Lipid A Biosynthesis in Escherichia coli O157:H7  Academic Article
• An ABC-Type Cobalt Transport System Is Essential for Growth of Sinorhizobium melilotiat Trace Metal Concentrations  Academic Article
• An Alternative Formulation for a Distributed Delayed Logistic Equation  Academic Article
• An Intact Intermediate Filament Network Is Required for Collateral Sprouting of Small Diameter Nerve Fibers  Academic Article
• An Updated Review on the Clinicopathologic Aspects of Arrhythmogenic Right Ventricular Cardiomyopathy An Updated Review on the Clinicopathologic Aspects of Arrhythmogenic Right Ventricular Cardiomyopathy.  Academic Article
• An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13  Academic Article
• An electron spin resonance study of oxyradical generation in superoxide dismutase- and catalase-deficient mutants of Escherichia coli K-12  Academic Article
• An evaluation of memory and attention in BRCA mutation carriers using an online cognitive assessment tool  Academic Article
• An important role for the activation peptide domain in controlling factor IX levels in the blood of haemophilia B mice  Conference Paper
• An inducible mammalian amber suppressor: Propagation of a poliovirus mutant  Academic Article
• An overview of the mechanism of action of antithrombin and its inherited deficiency states  Academic Article
• Analysis of C₄-dicarboxylate transport genes in Rhizobium meliloti  Academic Article
• Analysis of IFT74as a candidate gene for chromosome 9p-linked ALS-FTD  Academic Article
• Analysis of purified Wild type and mutant adenovirus particles by SILAC based quantitative proteomics  Academic Article
• 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  Academic Article
• Analysis of the cleavage site specificity of the endopeptidase involved in the maturation of the large subunit of hydrogenase 3 from Escherichia coli  Academic Article
• Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer  Academic Article
• Analysis of the transcarbamoylation-dehydration reaction catalyzed by the hydrogenase maturation proteins HypF and HypE  Academic Article
• Antibacterial Properties of an Oligo-Acyl-Lysyl Hexamer Targeting Gram-Negative Species  Academic Article
• Antithrombin III Mutation Database: First Update  Academic Article
• Antithrombin III Sudbury: An Ala384 → pro mutation with abnormal thrombin-binding activity and thrombotic diathesis  Academic Article
• Antithrombin III-Amiens: A new family with an Arg47 → cys inherited variant of antithrombin iii with impaired heparin cofactor activity  Academic Article
• Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity  Academic Article
• Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity  Academic Article
• Apoptosis and other effects of radiation in normal human urothelial cells  Academic Article
• Assay of HIV gp41 amino acid sequence to identify baseline variation and mutation development in patients with virologic failure on enfuvirtide☆  Academic Article
• Assessing non-Mendelian inheritance in inherited axonopathies  Academic Article
• Assigning a probability for paternity in apparent cases of mutation.  Academic Article
• Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma  Academic Article
• 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  Academic Article
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Academic Article
• Astrocytes Prevent Abnormal Neuronal Development in the Fragile X Mouse  Academic Article
• Asymptotic rates of growth of the extinction probability of a mutant gene  Academic Article
• Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience  Academic Article
• Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochromeb mutation  Academic Article
• Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease  Academic Article
• Atypical Polycystic Kidney Disease as defined by Imaging  Academic Article
• Atypical Teratoid Rhabdoid Tumors (ATRTs): The British Columbia's Children's Hospital's Experience, 1986-2006  Academic Article
• Autism associated mutations in β2 subunit of voltage-gated calcium channels constitutively activate gene expression  Academic Article
• Autoradiographic detection of diphtheria toxin resistant mutants in human diploid fibroblasts  Academic Article
• Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort  Academic Article
• BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes  Academic Article
• BRCA1, BRCA2 and breast cancer: a concise clinical review.  Academic Article
• BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays  Academic Article
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Academic Article
• Bax Forms an Oligomer via Separate, Yet Interdependent, Surfaces  Academic Article
• Bax forms multispanning monomers that oligomerize to permeabilize membranes during apoptosis  Academic Article
• Behavioral characterization and genetic analysis of the Drosophila melanogaster larval response to light as revealed by a novel individual assay.  Academic Article
• Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation  Academic Article
• Beyond the Brain  Academic Article
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Academic Article
• Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal  Academic Article
• Binding of basal transcription factor TFIIH to the acidic activation domains of VP16 and p53.  Academic Article
• Biofilm Formation by Hyperpiliated Mutants of Pseudomonas aeruginosa  Academic Article
• Biology and patterns of response to EGFR-inhibition in squamous cell cancers of the lung and head & neck  Academic Article
• Biosynthesis of Vitamin B ₆ : Incorporation of Three-Carbon Units  Academic Article
• Biosynthesis of Vitamin B6  Academic Article
• Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)  Academic Article
• Bone marrow‐derived mitochondrial DNA has limited capacity for inter‐tissue transfer in vivo  Academic Article
• Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in theBRCA1orBRCA2gene  Academic Article
• Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer  Academic Article
• Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers  Academic Article
• Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers  Academic Article
• Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation  Academic Article
• Brief Report: Human Acute Myeloid Leukemia Reprogramming to Pluripotency Is a Rare Event and Selects for Patient Hematopoietic Cells Devoid of Leukemic Mutations  Academic Article
• Broad and Differential Animal Angiotensin-Converting Enzyme 2 Receptor Usage by SARS-CoV-2  Academic Article
• Bystander Effects in Repair-Deficient Cell Lines  Academic Article
• CFTR2: How will it help care?  Academic Article
• CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions  Academic Article
• CYB5D2 displays tumor suppression activities towards cervical cancer  Academic Article
• CYFIP/Sra-1 Controls Neuronal Connectivity in Drosophila and Links the Rac1 GTPase Pathway to the Fragile X Protein  Academic Article
• Caloric restriction transiently improves motor performance but hastens clinical onset of disease in the Cu/Zn-superoxide dismutase mutant G93A mouse  Academic Article
• Camptothecin-resistant mutants of Chinese hamster ovary cells containing a resistant form of topoisomerase I.  Academic Article
• Can activated recombinant factor VII be used to postpone the exposure of infants to factor VIII until after 2 years of age?  Academic Article
• Cancer phenomics: RET and PTEN as illustrative models  Academic Article
• 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  Academic Article
• Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims  Academic Article
• Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy  Academic Article
• Carrier detection strategy in haemophilia A: the benefits of combined DNA marker analysis and coagulation testing in sporadic haemophilic families  Academic Article
• Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans  Academic Article
• Catalytic Activity and Acyl-Chain Selectivity of Diacylglycerol Kinase ɛ Are Modulated by Residues in and near the Lipoxygenase-Like Motif  Academic Article
• Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis  Academic Article
• Cell Wall Hydrolases Affect Germination, Vegetative Growth, and Sporulation in Streptomyces coelicolor  Academic Article
• Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure  Academic Article
• Cerebrolysin modulates pronerve growth factor/nerve growth factor ratio and ameliorates the cholinergic deficit in a transgenic model of Alzheimer's disease  Academic Article
• Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study  Academic Article
• Challenges to Implementation of an Epidermal Growth Factor Receptor Testing Strategy for Non–Small-Cell Lung Cancer in a Publicly Funded Health Care System  Academic Article
• Changes in rat and human pepsinogen phenotypes induced by N′-methyl-N′nitro-n-nitrosoguanidine  Academic Article
• Changes in the Ultraviolet Sensitivity of Escherichia coli During Growth in Batch Cultures  Academic Article
• Characterization of DCTN1 genetic variability in neurodegeneration  Academic Article
• Characterization of DalS, an ATP-binding Cassette Transporter for d-Alanine, and Its Role in Pathogenesis in Salmonella enterica  Academic Article
• Characterization of Human TK- Cell Lines Transformed to a TK+ Phenotype by Herpes Simplex Virus Type 2 DNA  Academic Article
• Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles  Academic Article
• Characterization of a Mouse Model for Thrombomodulin Deficiency  Academic Article
• Characterization of a catalytically efficient acidic RNA-cleaving deoxyribozyme  Academic Article
• Characterization of a replication-defective temperature-sensitive mutant of Rous sarcoma virus  Academic Article
• Characterization of a variant of human adenovirus type 2 which multiples efficiently in simian cells  Academic Article
• Characterization of an adenovirus type 5 mutant carrying embedded inverted terminal repeats  Academic Article
• Characterization of an inducible vancomycin resistance system in Streptomyces coelicolor reveals a novel gene (vanK) required for drug resistance  Academic Article
• Characterization of human adenovirus type 5 early region 1A polypeptides using antitumor sera and an antiserum specific for the carboxy terminus  Academic Article
• Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1  Academic Article
• Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA  Academic Article
• Characterization of nickel-induced mutations  Academic Article
• Characterization of the Bacillus subtilis GTPase YloQ and its role in ribosome function  Academic Article
• Characterization of the Rhizobium (Sinorhizobium) meliloti high- and low-affinity phosphate uptake systems  Academic Article
• Characterization of the electrophoretic mobility mutation in the N protein of the tsD1 mutant of vesicular stomatitis virus New Jersey serotype  Academic Article
• Characterization of the β-Ketoadipate Pathway in Sinorhizobium meliloti  Academic Article
• Characterization of two kdr mutations at predicted pyrethroid receptor site 2 in the sodium channels of Aedes aegypti and Nilaparvata lugens  Academic Article
• Characterizing responses to gamma radiation by a highly clonogenic fish brain endothelial cell line  Academic Article
• Characterizing the Secondary Structure and Identifying Functionally Essential Nucleotides of pH6DZ1, a Fluorescence-Signaling and RNA-Cleaving Deoxyribozyme  Academic Article
• Chemical Evolution and the Evolutionary Definition of Life  Academic Article
• Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis  Academic Article
• Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration  Academic Article
• Chromosomal damage induced by human adenovirus type 12 requires expression of the E1B 55-kilodalton viral protein  Academic Article
• Chronic venous abnormalities in symptomatic and asymptomatic protein C deficiency  Academic Article
• Chronology of sodium channel mutations associated with pyrethroid resistance inAedes aegypti  Academic Article
• Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer  Academic Article
• Citrobacter rodentium virulence in mice associates with bacterial load and the type III effector NleE  Academic Article
• Cl⁻transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epithelial Na⁺channels (ENaCs) inXenopusoocytes co-expressing CFTR and ENaC  Academic Article
• Clinical Management Recommendations for Surveillance and Risk-Reduction Strategies for Hereditary Breast and Ovarian Cancer Among Individuals Carrying a Deleterious BRCA1 or BRCA2 Mutation  Academic Article
• Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome  Academic Article
• Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis  Academic Article
• Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array  Academic Article
• Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.  Academic Article
• Clinical impact of mutation fraction in epidermal growth factor receptor mutation positive NSCLC patients  Academic Article
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Academic Article
• Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome  Academic Article
• Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study  Academic Article
• Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency  Academic Article
• Clinically relevant mutations in core metabolic genes confer antibiotic resistance  Academic Article
• Clinical–pathologic significance of cancer stem cell marker expression in familial breast cancers  Academic Article
• Cloning and Characterization of cDNA for Adenosine Kinase from Mammalian (Chinese Hamster, Mouse, Human and Rat) Species.  Academic Article
• Cloning of a Chromosomal Region Responsible for Streptolysin S Production in Streptococcus pyogenes  Conference Paper
• Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis  Academic Article
• Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study  Academic Article
• Co-operation between neural and myogenic mechanisms in the control of distension-induced peristalsis in the mouse small intestine  Academic Article
• Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability  Academic Article
• Cockayne syndrome group B protein regulates fork restart, fork progression and MRE11-dependent fork degradation in BRCA1/2-deficient cells  Academic Article
• 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  Academic Article
• Codon Usage in Mitochondrial Genomes: Distinguishing Context-Dependent Mutation from Translational Selection  Academic Article
• Cofilin Nuclear-Cytoplasmic Shuttling Affects Cofilin-Actin Rod Formation During Stress  Academic Article
• Collaborative Effort for a Centralized Worldwide Tuberculosis Relational Sequencing Data Platform: Figure 1.  Academic Article
• Comment On: Valette et al. Melanocortin-4 Receptor Mutations and Polymorphisms Do Not Affect Weight Loss after Bariatric Surgery. PLOS ONE 2012; 7(11):E48221  Academic Article
• Common β-lactamases inhibit bacterial biofilm formation  Academic Article
• Communication between Tandem cAMP Binding Domains in the Regulatory Subunit of Protein Kinase A-Iα as Revealed by Domain-silencing Mutations  Academic Article
• Communication of Radiation-Induced Signals in Vivo between DNA Repair Deficient and Proficient Medaka (Oryzias latipes)  Academic Article
• Comorbidities and complications in adults with pyruvate kinase deficiency  Academic Article
• Comparative Genetics of the rdar Morphotype in Salmonella  Academic Article
• Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation  Academic Article
• Comparative analysis of function and interaction of transcription factors in nematodes: Extensive conservation of orthology coupled to rapid sequence evolution  Academic Article
• 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  Academic Article
• Comparison of Assays for the Diagnosis of Mycoplasma genitalium and Macrolide Resistance Mutations in Self-Collected Vaginal Swabs and Urine  Academic Article
• Compensatory neutral mutations and the evolution of RNA.  Academic Article
• Complementation of adenovirus type 5 host range mutants by adenovirus type 12 in coinfected HeLa and BHK-21 cells  Academic Article
• Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma  Academic Article
• Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients  Academic Article
• Conditional RNA interference in vivo to study mutant p53 oncogenic gain of function on tumor malignancy  Academic Article
• Conditional deletion of AP-2β in the cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma  Academic Article
• Conformational Stability and Membrane Interaction of the Full-Length Ectodomain of HIV-1 gp41: Implication for Mode of Action  Academic Article
• Conservation of Lotus and Arabidopsis Basic Helix-Loop-Helix Proteins Reveals New Players in Root Hair Development      Academic Article
• Conserved inserts in the Hsp60 (GroEL) and Hsp70 (DnaK) proteins are essential for cellular growth  Academic Article
• Conserved mechanism of Wnt signaling function in the specification of vulval precursor fates in C. elegans and C. briggsae  Academic Article
• Constitutive expression of a gene encoding a polypeptide homologous to biologically active human platelet protein in Rous sarcoma virus-transformed fibroblasts.  Academic Article
• Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation  Academic Article
• Contrasting patterns of geographic variation in the cosmopolitan sibling species Drosophila melanogaster and Drosophila simulans  Academic Article
• Contribution of SHANK3 mutations to autism spectrum disorder.  Academic Article
• Contribution of mammography to MRI screening in BRCA mutation carriers by BRCA status and age: individual patient data meta-analysis  Academic Article
• Control of RpoS in global gene expression of Escherichia coli in minimal media  Academic Article
• Control of the receptor for galactose taxis in Salmonella typhimurium  Academic Article
• Correlation between Azole Susceptibilities, Genotypes, and ERG11 Mutations in Candida albicans Isolates Associated with Vulvovaginal Candidiasis in China  Academic Article
• Correlative Analysis of Genetic Alterations and Everolimus Benefit in Hormone Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative Advanced Breast Cancer: Results From BOLERO-2  Academic Article
• Cost-Effectiveness Analysis of Afatinib, Erlotinib, and Gefitinib as First-Line Treatments for EGFR Mutation-Positive Non-Small-Cell Lung Cancer in Ontario, Canada  Academic Article
• Cost-Effectiveness of Osimertinib in Treating Newly Diagnosed, Advanced EGFR-Mutation-Positive Non-Small Cell Lung Cancer  Academic Article
• Coupling of rates of transcription, translation, and messenger ribonucleic acid degradation in streptomycin-dependent mutants of Escherichia coli  Academic Article
• Cross resistance pattern towards anticancer drugs of a human carcinoma multidrug-resistant cell line  Academic Article
• Cross-resistance and biochemical characteristics of second-step mutants of HeLa cells resistant to cardiac glycosides  Academic Article
• Crystal Structure of Human XLF: A Twist in Nonhomologous DNA End-Joining  Academic Article
• Crystal Structure of the Passenger Domain of the Escherichia coli Autotransporter EspP  Academic Article
• Crystal structures of homoserine dehydrogenase suggest a novel catalytic mechanism for oxidoreductases  Academic Article
• Crystallographic analysis of TarI and TarJ, a cytidylyltransferase and reductase pair for CDP-ribitol synthesis in Staphylococcus aureus wall teichoic acid biogenesis  Academic Article
• Ctp1 protein–DNA filaments promote DNA bridging and DNA double-strand break repair  Academic Article
• Customized Viral Immunotherapy for HPV-Associated Cancer  Academic Article
• Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death  Academic Article
• Cystic Fibrosis Foundation Pulmonary Guidelines. Use of Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy in Patients with Cystic Fibrosis  Academic Article
• Cystic Fibrosis Transmembrane Conductance Regulator Gene Abnormalities in Patients with Asthma and Recurrent Neutrophilic Bronchitis  Academic Article
• D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function  Academic Article
• DHCR7 and Smith-Lemli-Opitz syndrome.  Academic Article
• DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?  Academic Article
• DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome  Academic Article
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• 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  Academic Article
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• Decoding the Functional Roles of Cationic Side Chains of the Major Antimicrobial Region of Human Cathelicidin LL-37  Academic Article
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• Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape  Academic Article
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• Definition of adenovirus type 5 functions involved in the induction of chromosomal aberrations in human cells  Academic Article
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• Delayed expression of lethal mutations and genomic instability in the progeny of human epithelial cells that survived in a bystander-killing environment  Academic Article
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• Diphtheria-toxin-resistant mutants of CHO cells affected in protein synthesis: A novel phenotype  Academic Article
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• Epidermal Growth Factor Receptor: Pathway, Therapies, and Pipeline  Academic Article
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• Evidence for functional hemizygosity at the Emtr locus in CHO cells through segregation analysis  Academic Article
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• Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect  Academic Article
• Exon 8 KIT mutation and pulmonary eosinophilia  Academic Article
• Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease  Academic Article
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• Exploring Intermolecular Interactions of a Substrate Binding Protein Using a Riboswitch-Based Sensor  Academic Article
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• Expression of the drosophila genedisconnected using the UAS/GAL4 system  Academic Article
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• FGF-Regulated Etv Genes Are Essential for Repressing Shh Expression in Mouse Limb Buds  Academic Article
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• Familial Amyotrophic Lateral Sclerosis  Academic Article
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• Fetal erythropoiesis in steel mutant mice  Academic Article
• Fetal erythropoiesis in steel mutant mice. III. Defect in differentiation from BFU-E to CFU-E during early development  Academic Article
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• Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype  Academic Article
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• Fluctuation domains in adaptive evolution  Academic Article
• Foetal Erythropoiesis in Steel Mutant Mice.  Academic Article
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• Genetic Analysis of Mutations Affecting pckA Regulation in Rhizobium (Sinorhizobium) meliloti  Academic Article
• Genetic Changes Accompanying the Evolution of Host Specialization in Drosophila sechellia  Academic Article
• Genetic Diversity and Dispersal of Aspergillus fumigatus in Arctic Soils  Academic Article
• Genetic Etiology of Isolated Low HDL Syndrome  Academic Article
• Genetic Interaction Screens with Ordered Overexpression and Deletion Clone Sets Implicate the Escherichia coli GTPase YjeQ in Late Ribosome Biogenesis  Academic Article
• Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy  Academic Article
• Genetic analysis of adenovirus type 2. VIII. Physical locations of temperature-sensitive mutations  Academic Article
• Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations  Academic Article
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• Genetic and biochemical studies on mutants of CHO cells resistant to 7-deazapurine nucleosides: Differences in the mechanisms of action of toyocamycin and tubercidin  Academic Article
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• Genetic and biochemical studies with the adenosine analogs toyocamycin and tubercidin: Mutation at the adenosine kinase locus in Chinese hamster cells  Academic Article
• Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti  Academic Article
• Genetic aspects of female reproduction  Academic Article
• Genetic bases of hypertriglyceridemic phenotypes  Academic Article
• Genetic interactions between error-prone and error-free postreplication repair pathways in Saccharomyces cerevisiae  Academic Article
• Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.  Academic Article
• Genetic markers for quantitative mutagenesis studies in Chinese hamster ovary cells Characteristics of some recently developed selective systems  Academic Article
• Genetic markers in mouse teratocarcinoma cells. Selection and partial characterization of mutants resistant to toyocamycin, DRB and podophyllotoxin  Academic Article
• Genetic redundancy is prevalent within the 6.7 Mb Sinorhizobium meliloti genome  Academic Article
• Genetic, structural and clinical analysis of spastic paraplegia 4  Academic Article
• Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity  Academic Article
• Genetics of microenvironmental canalization in Arabidopsis thaliana  Academic Article
• Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin  Academic Article
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• Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes  Academic Article
• Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations  Academic Article
• Genotype-Environment Interactions of Spontaneous Mutations for Vegetative Fitness in the Human Pathogenic Fungus Cryptococcus neoformans  Academic Article
• Genotype-phenotype correlations in recessive RYR1-related myopathies  Academic Article
• Genotypic and Phenotypic Analyses of Two “Isogenic” Strains of the Human Fungal Pathogen Cryptococcus neoformans var. neoformans  Academic Article
• Germline mosaicism in Cornelia de Lange syndrome  Academic Article
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• HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server  Academic Article
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• Herpes simplex virus IgG Fc receptors induced using recombinant adenovirus vectors expressing glycoproteins E and I  Academic Article
• Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity  Academic Article
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• High Yields of Lethal Mutations in Somatic Mammalian Cells that Survive Ionizing Radiation  Academic Article
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• Human Chromosome 7: DNA Sequence and Biology  Academic Article
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• Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis  Academic Article
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• Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)  Academic Article
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• Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada  Academic Article
• Increased BNip3 and decreased mutant p53 in cisplatin-sensitive PDT-resistant HT29 cells  Academic Article
• Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull  Academic Article
• 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  Academic Article
• Induction of Escherichia coli hydroperoxidase I by acetate and other weak acids  Academic Article
• 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.  Academic Article
• Induction of multiple PCR-SSCPE mobility shifts in exons in cultures of normal human urothelium exposed to low-dose gamma radiation  Academic Article
• Induction of raft-like domains by a myristoylated NAP-22 peptide and its Tyr mutant  Academic Article
• Influence of Tertiary paleoenvironmental changes on the diversification of South American mammals: a relaxed molecular clock study within xenarthrans.  Academic Article
• Inhibition of Metabotropic Glutamate Receptor Signaling by the Huntingtin-binding Protein Optineurin  Academic Article
• Inhibition of endogenous MTF-1 signaling in zebrafish embryos identifies novel roles for MTF-1 in development  Academic Article
• Inhibition of metabolic cooperation by phorbol esters in a cell culture system based on adenosine kinase deficient mutants of V79 cells  Academic Article
• Insertional mutagenesis using a synthetic lac operator  Academic Article
• Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies  Academic Article
• Instability of toxin A subunit of AB5 toxins in the bacterial periplasm caused by deficiency of their cognate B subunits  Academic Article
• Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors  Academic Article
• Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome  Academic Article
• Integrated genomic characterization of oesophageal carcinoma  Academic Article
• Integration and expression of viral DNA in cells transformed by host range mutants of adenovirus type 5  Academic Article
• Integrins Regulate Responsiveness to Slit Repellent Signals  Academic Article
• Interaction of mutant p53 with p73: A Surface Plasmon Resonance and Atomic Force Spectroscopy study  Academic Article
• Interactions of pro-apoptotic BH3 proteins with anti-apoptotic Bcl-2 family proteins measured in live MCF-7 cells using FLIM FRET  Academic Article
• International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation  Academic Article
• Interplay between cardiolipin and plasmalogens in Barth syndrome  Academic Article
• Intersegment contacts determine geometry of the open and closed states in P-loop channels  Academic Article
• 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.  Academic Article
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• Investigating Voice as a Biomarker for Leucine-Rich Repeat Kinase 2-Associated Parkinson’s Disease  Academic Article
• Investigating β-Hydroxyenduracididine Formation in the Biosynthesis of the Mannopeptimycins  Academic Article
• 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  Academic Article
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• Involvement of the rml locus in core oligosaccharide and O polysaccharide assembly in Pseudomonas aeruginosa  Academic Article
• Irreversible Block of Cardiac Mutant Na⁺Channels by Batrachotoxin  Academic Article
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• Isolation and characterization of respiratory-deficient mutants of Escherichia coli K-12  Academic Article
• Isolation and characterization of the disconnected gene of Drosophila melanogaster.  Academic Article
• Isolation of DNA Aptamers for CDP-Ribitol Synthase, and Characterization of Their Inhibitory and Structural Properties  Academic Article
• Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation  Academic Article
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• K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas  Academic Article
• KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures  Academic Article
• KEYNOTE-022: Pembrolizumab with trametinib in patients with BRAF wild-type melanoma or advanced solid tumours irrespective of BRAF mutation  Academic Article
• Kinase inhibitors modulate huntingtin cell localization and toxicity  Academic Article
• Kinematic Analysis of Drosophila Larval Locomotion in Response to Intermittent Light Pulses  Academic Article
• Kinetic mechanism of the GCN5-related chromosomal aminoglycoside acetyltransferase AAC(6')-Ii from Enterococcus faecium: evidence of dimer subunit cooperativity  Academic Article
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• Langerhans Cell Histiocytosis Associated With Renal Cell Carcinoma Is a Neoplastic Process  Conference Paper
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• Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2  Academic Article
• Lenalidomide treatment and prognostic markers in relapsed or refractory chronic lymphocytic leukemia: data from the prospective, multicenter phase-II CLL-009 trial  Academic Article
• Lentiviral vectors pseudotyped with minimal filovirus envelopes increased gene transfer in murine lung  Academic Article
• Les datations moléculaires à l’heure de la génomique  Academic Article
• Lethal Mutations Attributable to Misrepair of Q-lesions  Academic Article
• Lethal Mutations in Cultured Mammalian Cells  Academic Article
• Lethal Mutations, the Survival Curve Shoulder and Split-dose Recovery  Academic Article
• Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter  Academic Article
• Lien possible entre rhabdomyolyse et vaccin anti-SRAS-CoV-2 à ARNm chez une patiente porteuse d’une mutation du gène RYR1  Academic Article
• Life-Threatening Thrombosis in Mice With Targeted Arg48-to-Cys Mutation of the Heparin-Binding Domain of Antithrombin  Academic Article
• Lineage, migration, and morphogenesis of longitudinal glia in the Drosophila CNS as revealed by a molecular lineage marker  Academic Article
• Lineage-specific mutational clustering in protein structures predicts evolutionary shifts in function  Academic Article
• 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  Academic Article
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• LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias  Academic Article
• Lipopolysaccharide core phosphates are required for viability and intrinsic drug resistance in Pseudomonas aeruginosa  Academic Article
• Local molecular analysis of indeterminate thyroid nodules  Academic Article
• Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina  Academic Article
• Location of sequences in polyomavirus DNA that are required for early gene expression in vivo and in vitro.  Academic Article
• Long-chain fatty acyl-CoA esters regulate metabolism via allosteric control of AMPK β1 isoforms  Academic Article
• Long-term effects of ionizing radiation after the Chernobyl accident: Possible contribution of historic dose  Academic Article
• Loss of malic enzymes leads to metabolic imbalance and altered levels of trehalose and putrescine in the bacterium Sinorhizobium meliloti  Academic Article
• Loss-of-Function KCNE2 Variants  Academic Article
• Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations  Academic Article
• Low prevalence of JAK2 V617F mutation in patients with first unprovoked venous thromboembolism  Academic Article
• Low salt concentrations activate AMP-activated protein kinase in mouse macula densa cells  Academic Article
• Lunatic Fringe-mediated Notch signaling is required for lung alveogenesis  Academic Article
• 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  Academic Article
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• MDS with del(5q) and associated cKIT D816V positive mastocytosis  Academic Article
• MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review  Academic Article
• MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis  Academic Article
• Magnetic Resonance Imaging Improves Breast Screening Sensitivity in BRCA Mutation Carriers Age ≥ 50 Years: Evidence From an Individual Patient Data Meta-Analysis  Academic Article
• Male Sexual Dysfunction in Mice Bearing Targeted Mutant Alleles of the PEA3 ets Gene  Academic Article
• Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2  Academic Article
• Management of Inheritedvon Willebrand Disease in Italy: Results from the Retrospective Study on 1234 Patients  Academic Article
• Management of the BRCA Mutation Carrier or High-Risk Patient  Academic Article
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Academic Article
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• Mapping the interaction surface of scorpion β-toxins with an insect sodium channel  Academic Article
• Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy  Academic Article
• Massively parallel enzyme kinetics reveals the substrate recognition landscape of the metalloprotease ADAMTS13  Academic Article
• Mate Choice and the Origin of Menopause  Academic Article
• Mathematical model for the cancer stem cell hypothesis  Academic Article
• Matrix Metalloproteinases are required for membrane motility and lumenogenesis during Drosophila heart development  Academic Article
• Measurement of State-Specific Association Constants in Allosteric Sensors through Molecular Stapling and NMR  Academic Article
• Mechanism and Diversity of the Erythromycin Esterase Family of Enzymes  Academic Article
• Mechanism of Polypeptide Chain Termination  Academic Article
• Mechanism of loading and translocation of type VI secretion system effector Tse6  Academic Article
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• Menin Is a Regulator of the Stress Response in Drosophila melanogaster  Academic Article
• Menin Links the Stress Response to Genome Stability in Drosophila melanogaster  Academic Article
• Menin: The Protein Behind the MEN1 Syndrome  Academic Article
• Mesectodermal cell fate analysis in Drosophila midline mutants  Academic Article
• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments  Academic Article
• Metabolic Myopathies Discovered During Investigations of Statin Myopathy  Academic Article
• Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma  Academic Article
• Metabolic response by FDG-PET to imatinib correlates with exon 11 KIT mutation and predicts outcome in patients with mucosal melanoma  Academic Article
• Metabolomic analysis of exercise effects in the POLG mitochondrial DNA mutator mouse brain  Academic Article
• Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling  Academic Article
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• Mice with a Targeted Mutation of Patched2 Are Viable but Develop Alopecia and Epidermal Hyperplasia  Academic Article
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• Mitochondrial Localization of a Microtubule-Related Protein  Academic Article
• Mitochondrial Malate Dehydrogenase: A New Genetic Polymorphism in Man  Academic Article
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• Mitochondrial matrix localization of a protein altered in mutants resistant to the microtubule inhibitor podophyllotoxin.  Academic Article
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• Modification of Pseudomonas aeruginosa Pa5196 Type IV Pilins at Multiple Sites with d -Ara f by a Novel GT-C Family Arabinosyltransferase, TfpW  Academic Article
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• Modifier Gene Studies to Identify New Therapeutic Targets in Cystic Fibrosis  Academic Article
• Modifying a covarying protein–DNA interaction changes substrate preference of a site-specific endonuclease  Academic Article
• Modulation of the Phenotypic Expression of a Human Serine tRNA Gene by 5′-Flanking Sequences  Academic Article
• Molecular Basis for Immunity Protein Recognition of a Type VII Secretion System Exported Antibacterial Toxin  Academic Article
• Molecular Characterization of Chinese Hamster Cells Mutants Affected in Adenosine Kinase and Showing Novel Genetic and Biochemical Characteristics  Academic Article
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• Molecular Mapping of the Thrombin-Heparin Cofactor II Complex  Academic Article
• Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia  Academic Article
• Molecular basis of inherited human antithrombin deficiency  Academic Article
• Molecular evidence for dual pyrethroid-receptor sites on a mosquito sodium channel  Academic Article
• Molecular mechanisms of cefoxitin resistance in Escherichia coli from the Toronto area hospitals  Academic Article
• Molecular structural analysis of a novel and de-novo mutation in theSERPINC1gene associated with type 1 antithrombin deficiency  Academic Article
• Monoclonal antibodies to Rhizobium meliloti and surface mutants insensitive to them  Academic Article
• Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis  Academic Article
• Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation  Academic Article
• Mouse models for mitochondrial disease  Academic Article
• MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B  Academic Article
• Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C  Academic Article
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• Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours  Academic Article
• Mutagenesis and peptide analysis of the DRY motif in the α2A adrenergic receptor: evidence for alternate mechanisms in G protein-coupled receptors  Academic Article
• Mutagenic response to ultraviolet light and X-rays at five independent genetic loci in chinese hamster ovary cells  Academic Article
• Mutant Alleles at the Locus elav in Drosophila melanogaster lead to Nervous System Defects. A Developmental-Genetic Analysis  Academic Article
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• Mutant p53 gain of function: differential effects of different p53 mutants on resistance of cultured cells to chemotherapy  Academic Article
• Mutant p53 gain of function: reduction of tumor malignancy of human cancer cell lines through abrogation of mutant p53 expression  Academic Article
• Mutant p53 proteins: Between loss and gain of function  Academic Article
• Mutant p53 stimulates chemoresistance of pancreatic adenocarcinoma cells to gemcitabine  Academic Article
• Mutant p53: an oncogenic transcription factor  Academic Article
• Mutants of CHO cells resistant to the protein synthesis inhibitor emetine: Genetic and biochemical characterization of second-step mutants  Academic Article
• 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  Academic Article
• Mutants of HeLa cells resistant to ouabain and cassaine: Genetic evidence for the common site of action of cardiac glycosides and erythrophleum alkaloids  Academic Article
• Mutants of Rhizobium meliloti defective in succinate metabolism  Academic Article
• Mutants of chinese hamster ovary cells affected in two different microtubule-associated proteins. Genetic and biochemical studies.  Academic Article
• Mutation analysis of theFRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome  Academic Article
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• Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy  Academic Article
• Mutational analysis of state-dependent contacts in the pore module of eukaryotic sodium channels  Academic Article
• Mutational analysis of the herpes simplex virus trans-inducing factor Vmw65  Academic Article
• Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype  Academic Article
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Academic Article
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• Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome  Academic Article
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• Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation  Academic Article
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• Mutations in the Drosophila Condensin Subunit dCAP-G  Academic Article
• Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation  Academic Article
• Mutations in the conserved carboxy-terminal hydrophobic region of glycoprotein gB affect infectivity of herpes simplex virus  Academic Article
• Mutations in the genestand still disrupt germ cell differentiation inDrosophila ovaries  Academic Article
• Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants  Academic Article
• Mutations in the transmembrane helix S6 of domain IV confer cockroach sodium channel resistance to sodium channel blocker insecticides and local anesthetics  Academic Article
• Mutations inCaenorhabditis briggsaeidentify new genes important for limiting the response to EGF signaling during vulval development  Academic Article
• Mutations inKCNT1cause a spectrum of focal epilepsies  Academic Article
• Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly  Academic Article
• Mutations of two acidic residues at the cytoplasmic end of segment IIIS6 of an insect sodium channel have distinct effects on pyrethroid resistance  Academic Article
• Mycoplasma genitalium Antibiotic Resistance–Mediating Mutations in Canadian Women With or Without Chlamydia Trachomatis Infection  Academic Article
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• 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  Academic Article
• NADP+ -dependent malic enzyme of Rhizobium meliloti  Academic Article
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• NSD1 mutations generate a genome-wide DNA methylation signature  Academic Article
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• New therapeutic strategies to treat human cancers expressing mutant p53 proteins  Academic Article
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• Nitrogenaseless Mutants of Azotobacter vinelandii  Academic Article
• NleG Type 3 Effectors from Enterohaemorrhagic Escherichia coli Are U-Box E3 Ubiquitin Ligases  Academic Article
• No evidence of paternal transmission of fragile X syndrome  Academic Article
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• Nonrandom insertion of Tn5 into cloned human adeno virus DNA  Academic Article
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• Novel 95G>A (R32K) somatic mosaic connexin 32 mutation  Academic Article
• Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients  Academic Article
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• Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A)  Academic Article
• Novel Proteins That Modulate Type IV Pilus Retraction Dynamics in Pseudomonas aeruginosa  Academic Article
• Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype  Academic Article
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• Novel insights into the cytoplasmic functions of p53  Academic Article
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• Novel mutants of CHO cells resistant to adenosine analogs and containing biochemically altered form of adenosine kinase in cell extracts  Academic Article
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• Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS  Academic Article
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• Nucleotide Second Messenger-Mediated Regulation of a Muralytic Enzyme inStreptomyces  Academic Article
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• Oncolytic Viruses: Programmable Tumour Hunters  Academic Article
• Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma  Academic Article
• Opposing Roles of C/EBPβ and AP-1 in the Control of Fibroblast Proliferation and Growth Arrest-specific Gene Expression  Academic Article
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• Ouabain-resistant mutants of Chinese hamster ovary cells are not directly affected in Na+, K+-ATPase  Academic Article
• Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations  Academic Article
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• POLRMT mutations impair mitochondrial transcription causing neurological disease  Academic Article
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• Packing on the Pounds in Response to Bacterial Growth Conditions  Academic Article
• Pactamycin resistance in CHO cells: Morphological changes induced by the drug in the wild-type and mutant cells  Academic Article
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• Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deepNF1intronic mutation  Academic Article
• Paternal transmission of fragile X syndrome  Academic Article
• Pathbase: a database of mutant mouse pathology  Academic Article
• Pathbase: a new reference resource and database for laboratory mouse pathology  Academic Article
• Pathogenic adaptation of intracellular bacteria by rewiring a cis -regulatory input function  Academic Article
• Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD  Academic Article
• Patients with thalassemia in the United States  Academic Article
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• Prevalence of Epistasis in the Evolution of Influenza A Surface Proteins  Academic Article
• Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals  Academic Article
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• Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene  Academic Article
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• Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: The Transthyretin Amyloidosis Cardiac Study (TRACS)  Academic Article
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• Pseudomonas aeruginosa Minor Pilins Prime Type IVa Pilus Assembly and Promote Surface Display of the PilY1 Adhesin  Academic Article
• Pseudomonas aeruginosa d-Arabinofuranose Biosynthetic Pathway and Its Role in Type IV Pilus Assembly  Academic Article
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• Pseudotyping of Glycoprotein D-Deficient Herpes Simplex Virus Type 1 with Vesicular Stomatitis Virus Glycoprotein G Enables Mutant Virus Attachment and Entry  Academic Article
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• Pulmonary Fibrosis  Academic Article
• Purification and properties of dihydrofolate reductase from methotrexate-sensitive and methotrexate-resistant Chinese hamster ovary cells  Academic Article
• Quantitative analysis of mutant p53 protein in breast tumor cytosols and study of its association with other biochemical prognostic indicators in breast cancer  Academic Article
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• RpoS regulation of gene expression during exponential growth of Escherichia coli K12  Academic Article
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• 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  Academic Article
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• Sorafenib Maintenance After Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With FLT3–Internal Tandem Duplication Mutation (SORMAIN)  Academic Article
• Spatial-specific TGF-β1 adenoviral expression determines morphogenetic phenotypes in embryonic mouse lung  Academic Article
• Specificity of Membrane Binding of the Neuronal Protein NAP-22  Academic Article
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• Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase  Academic Article
• Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia  Academic Article
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• Steroid metabolism in testicular tissue of genetic mutant mice  Academic Article
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• Systemic therapy for previously untreated advanced BRAF-mutated melanoma: navigating a shifting landscape  Academic Article
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• The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype  Academic Article
• 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  Academic Article
• The LysR-type PcaQ protein regulates expression of a protocatechuate-inducible ABC-type transport system in Sinorhizobium meliloti  Academic Article
• The MC4R p.Ile269Asn mutation confers a high risk for type 2 diabetes in the Mexican population via obesity dependent and independent effects  Academic Article
• The Melanocortin 4 Receptor p.Ile269Asn Mutation Is Associated with Childhood and Adult Obesity in Mexicans  Academic Article
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• The Pel and Psl polysaccharides provide Pseudomonas aeruginosa structural redundancy within the biofilm matrix  Academic Article
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• The hemochromatosis gene.  Academic Article
• The impact of prophylactic salpingo-oophorectomy on quality of life and psychological distress in women with a BRCA mutation  Academic Article
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• The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Academic Article
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• There is more to life and death than mitochondria: Bcl-2 proteins at the endoplasmic reticulum  Academic Article
• Thiostrepton Hijacks Pyoverdine Receptors To Inhibit Growth of Pseudomonas aeruginosa  Academic Article
• Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening  Academic Article
• Three New β-Thalassemia Mutations with Varying Degrees of Severity  Academic Article
• 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  Academic Article
• Three sodium channel mutations from Aedes albopictus confer resistance to Type I, but not Type II pyrethroids  Academic Article
• Thrombin Activation of Factor XI on Activated Platelets Requires the Interaction of Factor XI and Platelet Glycoprotein Ibα with Thrombin Anion-binding Exosites I and II, Respectively  Academic Article
• Thrombin Hydrolysis of Human Osteopontin Is Dependent on Thrombin Anion-binding Exosites  Academic Article
• Thrombin-activatable procarboxypeptidase B regulates activated complement C5a in vivo  Academic Article
• Thromboepidemiology: Identifying patients with heritable risk for thrombin-mediated thromboembolic events  Academic Article
• Thrombophilia and location of venous thromboembolism  Academic Article
• Thrombosis in children with acute lymphoblastic leukemia  Academic Article
• Thrombosis in inherited factor VII deficiency  Academic Article
• Tissue-Specific Regulation of the LIM Homeobox Gene lin-11 during Development of the Caenorhabditis elegans Egg-Laying System  Academic Article
• Tn5 mutagenesis of the transforming genes of human adenovirus type 5  Academic Article
• Tracing Sequence Diversity Change of RNA-Cleaving Deoxyribozymes under Increasing Selection Pressure during in Vitro Selection  Academic Article
• Trait-to-Gene  Academic Article
• Transcriptional Activation by DNA-Binding Derivatives of HSV-1 VP16 That Lack the Carboxyl-Terminal Acidic Activation Domain  Academic Article
• Transcriptional induction of the conserved alternative sigma factor RpoS in Escherichia coli is dependent on BarA, a probable two-component regulator  Academic Article
• Transcriptional regulation of katE in Escherichia coli K-12  Academic Article
• Transcriptional upregulation of p21/WAF/Cip1 in myeloid leukemic blasts expressing AML1-ETO  Academic Article
• Transcriptomic profiling of gamma ray induced mutants from the CGL1 human hybrid cell system reveals novel insights into the mechanisms of radiation-induced carcinogenesis  Academic Article
• Transection of dysmyelinated optic nerve axons in adult rats lacking myelin basic protein  Academic Article
• Transformation of rodent cells by DNA extracted from transformation-defective adenovirus mutants  Academic Article
• Transient Expression of Na + /H + Exchanger Isoform NHE-2 in LLC-PK 1 Cells: Inhibition of Endogenous NHE-3 and Regulation by Hypertonicity  Academic Article
• Transient caloric restriction in early adulthood hastens disease endpoint in male, but not female, Cu/Zn-SOD mutant G93A mice  Academic Article
• Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report  Academic Article
• Transient virulence of emerging pathogens  Academic Article
• Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation  Academic Article
• Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia  Academic Article
• Tumor antigens of human ad5 in transformed cells and in cells infected with transformation-defective host-range mutants  Academic Article
• Tumor protein expression of the DNA repair gene BRCA1 and lethal prostate cancer  Academic Article
• Two Conserved Histidine Residues Are Critical to the Function of the TagF-like Family of Enzymes  Academic Article
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Academic Article
• Two distinct TP53 mutations in HNSCC primary tumor: Only one circulates in the blood  Academic Article
• Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]  Academic Article
• Two novel mitochondrial tRNA mutations, A7495G (tRNASer(UCN)) and C5577T (tRNATrp), are associated with seizures and cardiac dysfunction  Academic Article
• 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.  Academic Article
• Type IV pilins regulate their own expression via direct intramembrane interactions with the sensor kinase PilS  Academic Article
• Type and intensity of FVIII exposure on inhibitor development in PUPs with haemophilia A  Academic Article
• Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis  Academic Article
• Use of In-Biofilm Expression Technology To Identify Genes Involved in Pseudomonas aeruginosa Biofilm Development  Academic Article
• Using in-cell SHAPE-Seq and simulations to probe structure–function design principles of RNA transcriptional regulators  Academic Article
• Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care  Academic Article
• VSV strains with defects in their ability to shutdown innate immunity are potent systemic anti-cancer agents  Academic Article
• Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V  Academic Article
• Variable distribution of mutant mitochondria1 DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation  Academic Article
• Variants of theorexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity  Academic Article
• Variation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kong  Academic Article
• Virulence of a Porphyromonas gingivalis W83 mutant defective in the prtH gene  Academic Article
• W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity  Academic Article
• WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma  Academic Article
• WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations  Academic Article
• Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers  Conference Paper
• Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias  Academic Article
• Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Academic Article
• Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families  Academic Article
• Why Does the Inner-Helix Mutation A413C Double the Stoichiometry of Kv1.3 Channel Block by Emopamil but Not by Verapamil?  Academic Article
• Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice  Academic Article
• Workflow and Throughput of Commercial Assays to Detect Mycoplasma genitalium and Macrolide Resistance–Mediating Mutations  Academic Article
• XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediated telomere shortening  Academic Article
• XRCC4's interaction with XLF is required for coding (but not signal) end joining  Academic Article
• c.1058C>T variant in theSERPINC1gene is pathogenic for antithrombin deficiency  Academic Article
• l-Cysteine is required for induced antibiotic resistance in actively swarming Salmonella enterica serovar Typhimurium  Academic Article
• p53 is involved in the differentiation but not in the differentiation-associated apoptosis of myoblasts  Academic Article
• p53 mutations and protein expression in primary cultures of normal oral mucosa in smokers and non-smokers  Academic Article
• p53-paralog DNp73 oncogene is repressed by IFNα/STAT2 through the recruitment of the Ezh2 polycomb group transcriptional repressor  Academic Article
• p73-Mediated Chemosensitivity: A Preferential Target of Oncogenic Mutant p53  Academic Article
• tBid Undergoes Multiple Conformational Changes at the Membrane Required for Bax Activation  Academic Article
• α-Mannosidase 2C1 attenuates PTEN function in prostate cancer cells  Academic Article
• α-Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis  Academic Article
• β-Catenin Overexpression in the Metanephric Mesenchyme Leads to Renal Dysplasia Genesis via Cell-Autonomous and Non–Cell-Autonomous Mechanisms  Academic Article
• β-Subunit of the voltage-gated Ca ²⁺ channel Cav1.2 drives signaling to the nucleus via H-Ras  Academic Article
• β-arrestin1/YAP/mutant p53 complexes orchestrate the endothelin A receptor signaling in high-grade serous ovarian cancer  Academic Article
• β⁺-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]  Academic Article
• γT‐S195A thrombin reduces the anticoagulant effects of dabigatran in vitro and in vivo  Academic Article