Mutation
Concept
Vocabulary Service
Overview
subject area of
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BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50 Academic Article
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Caenorhabditis elegansHistone Deacetylasehda-1Is Required for Morphogenesis of the Vulva and LIN-12/Notch-Mediated Specification of Uterine Cell Fates Academic Article
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GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Academic Article
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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
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Id2gene is a transcriptional target of the protein complex mutant p53/E2F1 Academic Article
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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
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Salmonella
Produces an O-Antigen Capsule Regulated by AgfD and Important for Environmental Persistence Academic Article
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Sinorhizobium meliloti
phospholipase C required for lipid remodeling during phosphorus limitation Academic Article
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ampCgene expression in promoter mutants of cefoxitin-resistantEscherichia coliclinical isolates Academic Article
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TSPEARvariants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study Academic Article
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YAP
enhances the pro‐proliferative transcriptional activity of mutant p53 proteins Academic Article
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A Deoxyribozyme with a Novel Guanine Quartet-Helix Pseudoknot Structure Academic Article
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A Highly Dynamic Loop of the Pseudomonas aeruginosa PA14 Type IV Pilin Is Essential for Pilus Assembly Academic Article
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A Mendelian Randomization-Based Approach to Identify Early and Sensitive Diagnostic Biomarkers of Disease Academic Article
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A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy Academic Article
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A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Academic Article
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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
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A New Case of the Unstable Haemoglobin Genova(α<sub>2</sub>β<sub>2</sub>28(β 10)Leu→Pro) in Canada: As a Result of Sporadic Mutation and Causing Heinz Body Haemolytic Anaemia Academic Article
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A New Mutation in the Thyroid Hormone Receptor (TR) β Gene (V458A) in a Family with Resistance to Thyroid Hormone (RTH) Academic Article
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A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog Academic Article
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A Novel Sickling Hemoglobinopathy Academic Article
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A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus Academic Article
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A Population Genetics Model for Multiple Quantitative Traits Exhibiting Pleiotropy and Epistasis Academic Article
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A Population-Based Study of Dystrophin Mutations in Canada Academic Article
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A Role of p73 in Mitotic Exit Academic Article
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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
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A Sinorhizobium meliloti minE mutant has an altered morphology and exhibits defects in legume symbiosis Academic Article
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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
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A Thiolate Anion Buried within the Hydrocarbon Ruler Perturbs PagP Lipid Acyl Chain Selection Academic Article
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A Unified Model of Codon Reassignment in Alternative Genetic Codes Academic Article
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A cytosolic herpes simplex virus protein inhibits antigen presentation to CD8+ T lymphocytes Academic Article
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A divergentPseudomonas aeruginosapalmitoyltransferase essential for cystic fibrosis-specific lipid A Academic Article
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A guide for the performance of the Chinese hamster ovary cell/hypoxanthine-guanine phosphoribosyl transferase gene mutation assay Academic Article
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Academic Article
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A lacZ transgenic mouse assay for the detection of mutations in follicular granulosa cells Academic Article
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A molecular genetic study of factor XI deficiency Academic Article
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A multiplexable assay for screening antibiotic lethality against drug-tolerant bacteria Academic Article
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A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations Academic Article
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A myogenic motor pattern in mice lacking myenteric interstitial cells of Cajal explained by a second coupled oscillator network Academic Article
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Academic Article
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A novel fluorescent reporter sensitive to serine mis-incorporation Academic Article
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A novel function for the competence inducing peptide, XIP, as a cell death effector ofStreptococcus mutans Academic Article
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A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease Academic Article
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A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene Academic Article
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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
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A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome Academic Article
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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
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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
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A plasmid vehicle suitable for the molecular cloning and characterization of mammalian promoters Academic Article
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A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL Academic Article
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A putative Lipid Transfer Protein involved in systemic resistance signaling in Arabidopsis Academic Article
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A randomized phase II study of cediranib alone versus cediranib in combination with dasatinib in docetaxel resistant, castration resistant prostate cancer patients Academic Article
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A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia Academic Article
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A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy Academic Article
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A shotgun lipidomics approach in Sinorhizobium meliloti as a tool in functional genomics Academic Article
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A shotgun lipidomics study of a putative lysophosphatidic acid acyl transferase (PlsC) in Sinorhizobium meliloti Academic Article
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A simple technique for the rescue of early region I mutations into infectious human adenovirus type 5 Academic Article
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A source of small repeats in genomic DNA. Academic Article
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A standardised method for interpreting the association between mutations and phenotypic drug resistance inMycobacterium tuberculosis Academic Article
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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
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A transgenic mouse model demonstrating the oncogenic role of mutations in the polycomb-group gene EZH2 in lymphomagenesis Academic Article
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A unique BRCA1 mutation identified in Mongolia Academic Article
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A useful restriction analysis for the determination of human antithrombin III variants with mutations from Ala 382 to Ala 384 Academic Article
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A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0-thalassaemia homozygotes Academic Article
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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies Academic Article
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AML refractory to primary induction with Ida-FLAG has a poor clinical outcome Academic Article
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AMPK-Dependent Inhibitory Phosphorylation of ACC Is Not Essential for Maintaining Myocardial Fatty Acid Oxidation Academic Article
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ATM regulates proteasome-dependent subnuclear localization of TRF1, which is important for telomere maintenance Academic Article
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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes Academic Article
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Absence of Stabilizing Mutations of β-Catenin Encoded by CTNNB1 Exon 3 in a Large Series of Sporadic Parathyroid Adenomas Academic Article
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Absence of gene amplification in human cell mutants resistant to cardiac glycosides Academic Article
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Access and Binding of Local Anesthetics in the Closed Sodium Channel Academic Article
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Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis Academic Article
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Achondroplasia–hypochondroplasia complex in a newborn infant Academic Article
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Actigraphy Detects Greater Intra-Individual Variability During Gait in Non-Manifesting LRRK2 Mutation Carriers Academic Article
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Activated protein C resistance and low molecular weight lipoprotein (a): dual pathogens for atherothrombosis? Academic Article
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Activating AKT1 and PIK3CA Mutations in Metastatic Castration-Resistant Prostate Cancer Academic Article
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Activation of a recombinant human factor VII structural analogue alters its affinity of binding to tissue factor Academic Article
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Adaptation in bacterial CRISPR-Cas immunity can be driven by defective phages Academic Article
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Adenosine Kinase Deficiency Is Associated with Developmental Abnormalities and Reduced Transmethylation Academic Article
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Adenosine-AMP exchange activity is an integral part of the mammalian adenosine kinase Academic Article
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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
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Age-Related Resistance in Arabidopsis Is a Developmentally Regulated Defense Response to Pseudomonas syringae Academic Article
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Alanine to valine substitutions in the pore helix IIIP1 and linker-helix IIIL45 confer cockroach sodium channel resistance to DDT and pyrethroids Academic Article
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Allelic variants of the amylose extender mutation of maize demonstrate phenotypic variation in starch structure resulting from modified protein-protein interactions Academic Article
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Alpha-thalassaemia and population health in Southeast Asia Academic Article
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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 Academic Article
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Altering Heparin Cofactor II at VAL439 (P6) either Impairs Inhibition of Thrombin or Confers Elastase Resistance Academic Article
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Amber, ochre and opal suppressor tRNA genes derived from a human serine tRNA gene. Academic Article
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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
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An
msbB
Homologue Carried in Plasmid pO157 Encodes an Acyltransferase Involved in Lipid A Biosynthesis in
Escherichia coli
O157:H7 Academic Article
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An ABC-Type Cobalt Transport System Is Essential for Growth of Sinorhizobium melilotiat Trace Metal Concentrations Academic Article
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An Alternative Formulation for a Distributed Delayed Logistic Equation Academic Article
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An Intact Intermediate Filament Network Is Required for Collateral Sprouting of Small Diameter Nerve Fibers Academic Article
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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
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An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13 Academic Article
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An electron spin resonance study of oxyradical generation in superoxide dismutase- and catalase-deficient mutants of Escherichia coli K-12 Academic Article
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An evaluation of memory and attention in
BRCA
mutation carriers using an online cognitive assessment tool Academic Article
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An important role for the activation peptide domain in controlling factor IX levels in the blood of haemophilia B mice Conference Paper
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An inducible mammalian amber suppressor: Propagation of a poliovirus mutant Academic Article
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An overview of the mechanism of action of antithrombin and its inherited deficiency states Academic Article
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Analysis of C4-dicarboxylate transport genes in Rhizobium meliloti Academic Article
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Analysis of IFT74as a candidate gene for chromosome 9p-linked ALS-FTD Academic Article
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Analysis of purified Wild type and mutant adenovirus particles by SILAC based quantitative proteomics Academic Article
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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
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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
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Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer Academic Article
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Analysis of the transcarbamoylation-dehydration reaction catalyzed by the hydrogenase maturation proteins HypF and HypE Academic Article
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Antibacterial Properties of an Oligo-Acyl-Lysyl Hexamer Targeting Gram-Negative Species Academic Article
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Antithrombin III Mutation Database: First Update Academic Article
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Antithrombin III Sudbury: An Ala384 → pro mutation with abnormal thrombin-binding activity and thrombotic diathesis Academic Article
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Antithrombin III-Amiens: A new family with an Arg47 → cys inherited variant of antithrombin iii with impaired heparin cofactor activity Academic Article
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Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity Academic Article
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Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity Academic Article
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Apoptosis and other effects of radiation in normal human urothelial cells Academic Article
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Assay of HIV gp41 amino acid sequence to identify baseline variation and mutation development in patients with virologic failure on enfuvirtide☆ Academic Article
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Assessing non-Mendelian inheritance in inherited axonopathies Academic Article
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Assigning a probability for paternity in apparent cases of mutation. Academic Article
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Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma Academic Article
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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
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Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS Academic Article
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Astrocytes Prevent Abnormal Neuronal Development in the Fragile X Mouse Academic Article
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Asymptotic rates of growth of the extinction probability of a mutant gene Academic Article
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Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience Academic Article
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Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochromeb mutation Academic Article
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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
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Atypical Polycystic Kidney Disease as defined by Imaging Academic Article
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Atypical Teratoid Rhabdoid Tumors (ATRTs): The British Columbia's Children's Hospital's Experience, 1986-2006 Academic Article
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Autism associated mutations in β2 subunit of voltage-gated calcium channels constitutively activate gene expression Academic Article
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Autoradiographic detection of diphtheria toxin resistant mutants in human diploid fibroblasts Academic Article
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Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort Academic Article
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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes Academic Article
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BRCA1, BRCA2 and breast cancer: a concise clinical review. Academic Article
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BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays Academic Article
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Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Academic Article
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Bax Forms an Oligomer via Separate, Yet Interdependent, Surfaces Academic Article
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Bax forms multispanning monomers that oligomerize to permeabilize membranes during apoptosis Academic Article
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Behavioral characterization and genetic analysis of the Drosophila melanogaster larval response to light as revealed by a novel individual assay. Academic Article
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Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation Academic Article
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Beyond the Brain Academic Article
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Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Academic Article
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Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal Academic Article
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Binding of basal transcription factor TFIIH to the acidic activation domains of VP16 and p53. Academic Article
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Biofilm Formation by Hyperpiliated Mutants of
Pseudomonas aeruginosa Academic Article
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Biology and patterns of response to EGFR-inhibition in squamous cell cancers of the lung and head & neck Academic Article
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Biosynthesis of Vitamin B
6
: Incorporation of Three-Carbon Units Academic Article
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Biosynthesis of Vitamin B6 Academic Article
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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014) Academic Article
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Bone marrow‐derived mitochondrial DNA has limited capacity for inter‐tissue transfer in vivo Academic Article
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Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in theBRCA1orBRCA2gene Academic Article
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Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer Academic Article
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Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers Academic Article
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Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers Academic Article
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Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation Academic Article
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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
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Broad and Differential Animal Angiotensin-Converting Enzyme 2 Receptor Usage by SARS-CoV-2 Academic Article
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Bystander Effects in Repair-Deficient Cell Lines Academic Article
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CFTR2: How will it help care? Academic Article
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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Academic Article
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CYB5D2 displays tumor suppression activities towards cervical cancer Academic Article
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CYFIP/Sra-1 Controls Neuronal Connectivity in Drosophila and Links the Rac1 GTPase Pathway to the Fragile X Protein Academic Article
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Caloric restriction transiently improves motor performance but hastens clinical onset of disease in the Cu/Zn-superoxide dismutase mutant G93A mouse Academic Article
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Camptothecin-resistant mutants of Chinese hamster ovary cells containing a resistant form of topoisomerase I. Academic Article
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Can activated recombinant factor VII be used to postpone the exposure of infants to factor VIII until after 2 years of age? Academic Article
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Cancer phenomics: RET and PTEN as illustrative models Academic Article
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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
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Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims Academic Article
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Carnitine transporter defect due to a novel mutation in the SLC22A5
gene presenting with peripheral neuropathy Academic Article
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Carrier detection strategy in haemophilia A: the benefits of combined DNA marker analysis and coagulation testing in sporadic haemophilic families Academic Article
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Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans Academic Article
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Catalytic Activity and Acyl-Chain Selectivity of Diacylglycerol Kinase ɛ Are Modulated by Residues in and near the Lipoxygenase-Like Motif Academic Article
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Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis Academic Article
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Cell Wall Hydrolases Affect Germination, Vegetative Growth, and Sporulation in
Streptomyces coelicolor Academic Article
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Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure Academic Article
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Cerebrolysin modulates pronerve growth factor/nerve growth factor ratio and ameliorates the cholinergic deficit in a transgenic model of Alzheimer's disease Academic Article
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Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study Academic Article
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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
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Changes in rat and human pepsinogen phenotypes induced by N′-methyl-N′nitro-n-nitrosoguanidine Academic Article
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Changes in the Ultraviolet Sensitivity of
Escherichia coli
During Growth in Batch Cultures Academic Article
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Characterization of DCTN1 genetic variability in neurodegeneration Academic Article
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Characterization of DalS, an ATP-binding Cassette Transporter for d-Alanine, and Its Role in Pathogenesis in Salmonella enterica Academic Article
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Characterization of Human TK- Cell Lines Transformed to a TK+ Phenotype by Herpes Simplex Virus Type 2 DNA Academic Article
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Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles Academic Article
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Characterization of a Mouse Model for Thrombomodulin Deficiency Academic Article
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Characterization of a catalytically efficient acidic RNA-cleaving deoxyribozyme Academic Article
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Characterization of a replication-defective temperature-sensitive mutant of Rous sarcoma virus Academic Article
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Characterization of a variant of human adenovirus type 2 which multiples efficiently in simian cells Academic Article
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Characterization of an adenovirus type 5 mutant carrying embedded inverted terminal repeats Academic Article
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Characterization of an inducible vancomycin resistance system in Streptomyces coelicolor reveals a novel gene (vanK) required for drug resistance Academic Article
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Characterization of human adenovirus type 5 early region 1A polypeptides using antitumor sera and an antiserum specific for the carboxy terminus Academic Article
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Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1 Academic Article
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Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA Academic Article
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Characterization of nickel-induced mutations Academic Article
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Characterization of the Bacillus subtilis GTPase YloQ and its role in ribosome function Academic Article
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Characterization of the Rhizobium (Sinorhizobium) meliloti high- and low-affinity phosphate uptake systems Academic Article
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Characterization of the electrophoretic mobility mutation in the N protein of the tsD1 mutant of vesicular stomatitis virus New Jersey serotype Academic Article
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Characterization of the β-Ketoadipate Pathway in
Sinorhizobium meliloti Academic Article
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Characterization of two kdr mutations at predicted pyrethroid receptor site 2 in the sodium channels of Aedes aegypti and Nilaparvata lugens Academic Article
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Characterizing responses to gamma radiation by a highly clonogenic fish brain endothelial cell line Academic Article
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Characterizing the Secondary Structure and Identifying Functionally Essential Nucleotides of pH6DZ1, a Fluorescence-Signaling and RNA-Cleaving Deoxyribozyme Academic Article
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Chemical Evolution and the Evolutionary Definition of Life Academic Article
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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis Academic Article
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Cholesteryl Ester Transfer Protein Mutations, Protein Activity and HDL-Cholesterol Concentration Academic Article
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Chromosomal damage induced by human adenovirus type 12 requires expression of the E1B 55-kilodalton viral protein Academic Article
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Chronic venous abnormalities in symptomatic and asymptomatic protein C deficiency Academic Article
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Chronology of sodium channel mutations associated with pyrethroid resistance inAedes aegypti Academic Article
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Circulating tumor DNA alterations in patients with metastatic castration‐resistant prostate cancer Academic Article
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Citrobacter rodentium virulence in mice associates with bacterial load and the type III effector NleE Academic Article
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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
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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
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Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome Academic Article
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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
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Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array Academic Article
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Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Academic Article
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Clinical impact of mutation fraction in epidermal growth factor receptor mutation positive NSCLC patients Academic Article
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Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study Academic Article
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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome Academic Article
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Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study Academic Article
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Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency Academic Article
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Clinically relevant mutations in core metabolic genes confer antibiotic resistance Academic Article
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Clinical–pathologic significance of cancer stem cell marker expression in familial breast cancers Academic Article
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Cloning and Characterization of cDNA for Adenosine Kinase from Mammalian (Chinese Hamster, Mouse, Human and Rat) Species. Academic Article
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Cloning of a Chromosomal Region Responsible for Streptolysin S Production in Streptococcus pyogenes Conference Paper
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Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis Academic Article
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Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study Academic Article
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Co-operation between neural and myogenic mechanisms in the control of distension-induced peristalsis in the mouse small intestine Academic Article
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Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability Academic Article
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Cockayne syndrome group B protein regulates fork restart, fork progression and MRE11-dependent fork degradation in BRCA1/2-deficient cells Academic Article
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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
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Codon Usage in Mitochondrial Genomes: Distinguishing Context-Dependent Mutation from Translational Selection Academic Article
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Cofilin Nuclear-Cytoplasmic Shuttling Affects Cofilin-Actin Rod Formation During Stress Academic Article
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Collaborative Effort for a Centralized Worldwide Tuberculosis Relational Sequencing Data Platform: Figure 1. Academic Article
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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
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Common β-lactamases inhibit bacterial biofilm formation Academic Article
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Communication between Tandem cAMP Binding Domains in the Regulatory Subunit of Protein Kinase A-Iα as Revealed by Domain-silencing Mutations Academic Article
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Communication of Radiation-Induced Signals in Vivo between DNA Repair Deficient and Proficient Medaka (Oryzias latipes) Academic Article
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Comorbidities and complications in adults with pyruvate kinase deficiency Academic Article
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Comparative Genetics of the rdar Morphotype in
Salmonella Academic Article
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Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation Academic Article
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Comparative analysis of function and interaction of transcription factors in nematodes: Extensive conservation of orthology coupled to rapid sequence evolution Academic Article
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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
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Comparison of Assays for the Diagnosis of Mycoplasma genitalium and Macrolide Resistance Mutations in Self-Collected Vaginal Swabs and Urine Academic Article
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Compensatory neutral mutations and the evolution of RNA. Academic Article
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Complementation of adenovirus type 5 host range mutants by adenovirus type 12 in coinfected HeLa and BHK-21 cells Academic Article
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Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma Academic Article
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Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients Academic Article
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Conditional RNA interference in vivo to study mutant p53 oncogenic gain of function on tumor malignancy Academic Article
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Conditional deletion of AP-2β in the cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma Academic Article
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Conformational Stability and Membrane Interaction of the Full-Length Ectodomain of HIV-1 gp41: Implication for Mode of Action Academic Article
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Conservation of Lotus and Arabidopsis Basic Helix-Loop-Helix Proteins Reveals New Players in Root Hair Development
Academic Article
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Conserved inserts in the Hsp60 (GroEL) and Hsp70 (DnaK) proteins are essential for cellular growth Academic Article
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Conserved mechanism of Wnt signaling function in the specification of vulval precursor fates in C. elegans and C. briggsae Academic Article
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Constitutive expression of a gene encoding a polypeptide homologous to biologically active human platelet protein in Rous sarcoma virus-transformed fibroblasts. Academic Article
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Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation Academic Article
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Contrasting patterns of geographic variation in the cosmopolitan sibling species Drosophila melanogaster and Drosophila simulans Academic Article
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Contribution of SHANK3 mutations to autism spectrum disorder. Academic Article
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Contribution of mammography to MRI screening in BRCA mutation carriers by BRCA status and age: individual patient data meta-analysis Academic Article
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Control of RpoS in global gene expression of Escherichia coli in minimal media Academic Article
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Control of the receptor for galactose taxis in Salmonella typhimurium Academic Article
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Correlation between Azole Susceptibilities, Genotypes, and
ERG11
Mutations in
Candida albicans
Isolates Associated with Vulvovaginal Candidiasis in China Academic Article
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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
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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
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Cost-Effectiveness of Osimertinib in Treating Newly Diagnosed, Advanced EGFR-Mutation-Positive Non-Small Cell Lung Cancer Academic Article
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Coupling of rates of transcription, translation, and messenger ribonucleic acid degradation in streptomycin-dependent mutants of Escherichia coli Academic Article
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Cross resistance pattern towards anticancer drugs of a human carcinoma multidrug-resistant cell line Academic Article
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Cross-resistance and biochemical characteristics of second-step mutants of HeLa cells resistant to cardiac glycosides Academic Article
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Crystal Structure of Human XLF: A Twist in Nonhomologous DNA End-Joining Academic Article
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Crystallographic analysis of TarI and TarJ, a cytidylyltransferase and reductase pair for CDP-ribitol synthesis in Staphylococcus aureus wall teichoic acid biogenesis Academic Article
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Ctp1 protein–DNA filaments promote DNA bridging and DNA double-strand break repair Academic Article
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Customized Viral Immunotherapy for HPV-Associated Cancer Academic Article
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Cystathionine Protects against Endoplasmic Reticulum Stress-induced Lipid Accumulation, Tissue Injury, and Apoptotic Cell Death Academic Article
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Cystic Fibrosis Foundation Pulmonary Guidelines. Use of Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy in Patients with Cystic Fibrosis Academic Article
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Cystic Fibrosis Transmembrane Conductance Regulator Gene Abnormalities in Patients with Asthma and Recurrent Neutrophilic Bronchitis Academic Article
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D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function Academic Article
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DHCR7 and Smith-Lemli-Opitz syndrome. Academic Article
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DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients? Academic Article
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DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome Academic Article
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DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants Academic Article
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DNA Repair in Chlamydomonas reinhardtii Induced by Heat Shock and Gamma Radiation Academic Article
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DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients Academic Article
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DRB resistance in Chinese hamster and human cells: Genetic and biochemical characteristics of the selection system 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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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Academic Article
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Decoding Toxicity 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 and massively parallel kinetics of plasminogen activator inhibitor-1 functional stability to probe its latency transition Academic Article
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Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape Academic Article
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders Academic Article
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Defective transforming capacity of adenovirus type 5 host-range mutants Academic Article
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Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice Academic Article
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Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency 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 cell death and bystander effects in the progeny of Chinook Salmon Embryo cells exposed to radiation and a range of aquatic pollutants Academic Article
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Delayed expression of enhanced reactivation and decreased mutagenesis of UV-irradiated adenovirus in UV-irradiated ataxia telangiectasia fibroblasts 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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Delineating domains and functions of NUP98 contributing to the leukemogenic activity of NUP98-HOX fusions Academic Article
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Denosumab treatment for fibrous dysplasia Academic Article
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Detecting selection using a single genome sequence of M. tuberculosis and P. falciparum Academic Article
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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Academic Article
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Detection of a clone-specific GATA1
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Detection of the (–SEA) double α-globin gene deletion by a simple immunologic assay for embryonic ζ-globin chains Academic Article
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Determination of the Topology of the Hydrophobic Segment of Mammalian Diacylglycerol Kinase Epsilon in a Cell Membrane and Its Relationship to Predictions from Modeling Academic Article
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Development and Characterization of a Xylose-Dependent System for Expression of Cloned Genes in
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Development of a specific assay for cardiac glycoside-like compounds based on cross-resistance of human cell mutants Academic Article
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Development of the Drosophila olfactory sense organs utilizes cell-cell interactions as well as lineage Academic Article
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Developmental origin andkit-dependent development of the interstitial cells of cajal in the mammalian small intestine Academic Article
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Developmentally regulated cleavage of tRNAs in the bacterium Streptomyces coelicolor Academic Article
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Diabetes and breast cancer among women with BRCA1 and BRCA2 mutations Academic Article
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Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan Academic Article
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Diagnosis and treatment of dementia: 1. Risk assessment and primary prevention of Alzheimer disease Academic Article
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Dimeric c-di-GMP Is Required for Post-translational Regulation of Alginate Production in Pseudomonas aeruginosa Academic Article
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Dimerization and interactions of
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Diphtheria toxin resistance in chinese hamster cells: Genetic and biochemical characteristics of the mutants affected in protein synthesis 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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Direct and delayed X-ray-induced DNA damage in male mouse germ cells Academic Article
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals Academic Article
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Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing Academic Article
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Disruption of the kringle 1 domain of prothrombin leads to late onset mortality in zebrafish Academic Article
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Dissociation between the level of von Willebrand factor-cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura Academic Article
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Distinct roles of the DmNav and DSC1 channels in the action of DDT and pyrethroids Academic Article
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Distinguishing West Nile virus infection using a recombinant envelope protein with mutations in the conserved fusion-loop Academic Article
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Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening Academic Article
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Does Gene Translocation Accelerate the Evolution of Laterally Transferred Genes? Academic Article
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Does activated protein C resistance increase the risk of systemic embolism in non rheumatic atrial fibrillation? Academic Article
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Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis? Academic Article
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Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution Academic Article
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Downregulation of CYB5D2 is associated with breast cancer progression Academic Article
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Drosophila RhoGAP68F is a putative GTPase activating protein for RhoA participating in gastrulation Academic Article
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Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice Academic Article
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Durvalumab as third-line or later treatment for advanced non-small-cell lung cancer (ATLANTIC): an open-label, single-arm, phase 2 study Academic Article
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Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis Academic Article
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Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human Academic Article
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E-cadherin alterations in atypical lobular hyperplasia and lobular carcinoma in situ of the breast Academic Article
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Early Intervention with a Multi-Ingredient Dietary Supplement Improves Mood and Spatial Memory in a Triple Transgenic Mouse Model of Alzheimer’s Disease Academic Article
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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 Academic Article
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Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study Academic Article
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Effect of nitrogenase compounds from mutant and wild-type strains of Azotobacter on the dilution effect of nitrogenase Academic Article
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Effects of antimitotic and antimitochondrial agents on the cellular distribution of microtubules and mitochondria. Academic Article
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Effects of contact structure on the transient evolution of HIV virulence Academic Article
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Effects of limiting different purine nucleotide precursors on nucleic acid synthesis and nucleotide pools of purine-requiring mutants of Escherichia coli Academic Article
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Effects of metal binding affinity on the chemical and thermal stability of site-directed mutants of rat oncomodulin Academic Article
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Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation Academic Article
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Empirical prediction of protein pKavalues with residue mutation Academic Article
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Enhanced reactivation and mutagenesis of UV-irradiated adenovirus in normal human fibroblasts Academic Article
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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. Academic Article
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Enhancing Endocrine Therapy Combination Strategies for the Treatment of Postmenopausal HR+/HER2– Advanced Breast Cancer Academic Article
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Enzymatic and non-enzymatic reduction of nitrite by extracts of Neurospora crassa Academic Article
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Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases Academic Article
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Epidemiologic Approaches to Evaluating the Potential for Human Papillomavirus Type Replacement Postvaccination Academic Article
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Epidermal Growth Factor Receptor and Transforming Growth Factor-β Signaling Contributes to Variation for Wing Shape in Drosophila melanogaster Academic Article
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Epidermal Growth Factor Receptor: Pathway, Therapies, and Pipeline Academic Article
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Epigenomic alterations define lethal CIMP-positive ependymomas of infancy Academic Article
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Erlotinib in Lung Cancer — Molecular and Clinical Predictors of Outcome Academic Article
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Estimates of DNA and protein sequence divergence: an examination of some assumptions. Academic Article
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Estimating the Spontaneous Mutation Rate of Loss of Sex in the Human Pathogenic Fungus Cryptococcus neoformans Academic Article
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Etoposide (VP16) and teniposide (VM26): novel anticancer drugs, strongly mutagenic in mammalian but not prokaryotic test systems Academic Article
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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 Academic Article
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Everolimus and pazopanib (E/P) benefit genomically selected patients with metastatic urothelial carcinoma Academic Article
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Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7 Academic Article
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Evidence for an involvement of thymidine kinase in the excision repair of ultraviolet-irradiated herpes simplex virus in human cells 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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Evidence for local DNA influences on patterns of substitutions in the human α-interferon gene family Academic Article
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Evolution of Pseudomonas aeruginosa Virulence as a Result of Phage Predation Academic Article
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Evolution of an Enzyme from a Noncatalytic Nucleic Acid Sequence Academic Article
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Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta Academic Article
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Evolutionary and functional diversity of thePseudomonastype IVa pilin island Academic Article
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Evolutionary loss of the rdar morphotype in Salmonella as a result of high mutation rates during laboratory passage Academic Article
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Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency Academic Article
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Evolutionary stability in continuous nonlinear public goods games Academic Article
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Evolutionary trajectory of SARS-CoV-2 and emerging variants Academic Article
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Exacerbated Pulmonary Arterial Hypertension and Right Ventricular Hypertrophy in Animals With Loss of Function of Extracellular Superoxide Dismutase Academic Article
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Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia Academic Article
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Exercise Intolerance Due to Mutations in the CytochromebGene of Mitochondrial DNA Academic Article
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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA Academic Article
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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction Academic Article
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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect 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 TP53 mutation-associated microRNAs predicts clinical outcome in head and neck squamous cell carcinoma patients Academic Article
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Expression of a Mutation Causing Hypertrophic Cardiomyopathy Disrupts Sarcomere Assembly in Adult Feline Cardiac Myocytes Academic Article
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Expression profiling of familial breast cancers demonstrates higher expression of FGFR2 in BRCA2-associated tumors Academic Article
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Extensive Genetic Diversity and Widespread Azole Resistance in Greenhouse Populations of Aspergillus fumigatus in Yunnan, China 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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Familial Permanent Neonatal Diabetes with KCNJ11 Mutation and the Response to Glyburide Therapy - A Three-Year Follow-Up Academic Article
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Familial dysmyelination in a Long Evans rat mutant. Academic Article
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Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli Academic Article
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Fast spin-echo for multiple mouse magnetic resonance phenotyping Academic Article
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Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial Academic Article
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Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation Academic Article
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Foetal Erythropoiesis in Steel Mutant Mice. Academic Article
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Formycin B-resistant mutants of Chinese hamster ovary cells: novel genetic and biochemical phenotype affecting adenosine kinase. Academic Article
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Forward and reverse genetics to identify genes involved in the age-related resistance response inArabidopsis thaliana Academic Article
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Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome Academic Article
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Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations Academic Article
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Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome Academic Article
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Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity Academic Article
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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 Academic Article
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Fusion of the C-terminal triskaidecapeptide of hirudin variant 3 to alpha1-proteinase inhibitor M358R increases the serpin-mediated rate of thrombin inhibition Academic Article
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Gain of function of mutant p53: The mutant p53/NF-Y protein complex reveals an aberrant transcriptional mechanism of cell cycle regulation Academic Article
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Gain-of-function mutant p53 downregulates miR-223 contributing to chemoresistance of cultured tumor cells Academic Article
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Academic Article
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Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice Academic Article
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Gene Structure for Adenosine Kinase in Chinese Hamster and Human: High-Frequency Mutants of CHO Cells Involve Deletions of Several Introns and Exons Academic Article
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Genetic Analysis of Mutations Affecting pckA Regulation in Rhizobium (Sinorhizobium) meliloti Academic Article
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Genetic Changes Accompanying the Evolution of Host Specialization in Drosophila sechellia Academic Article
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Genetic Diversity and Dispersal of Aspergillus fumigatus in Arctic Soils Academic Article
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Genetic Etiology of Isolated Low HDL Syndrome Academic Article
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Genetic Interaction Screens with Ordered Overexpression and Deletion Clone Sets Implicate the
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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 mutants of mammalian cells affected in microtubule-related proteins other than tubulin: mitochondrial localization of a microtubule-related protein 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
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Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti Academic Article
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Genetic aspects of female reproduction Academic Article
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Genetic bases of hypertriglyceridemic phenotypes Academic Article
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Genetic interactions between error-prone and error-free postreplication repair pathways in Saccharomyces cerevisiae Academic Article
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Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. Academic Article
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Genetic markers for quantitative mutagenesis studies in Chinese hamster ovary cells Characteristics of some recently developed selective systems Academic Article
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Genetic markers in mouse teratocarcinoma cells. Selection and partial characterization of mutants resistant to toyocamycin, DRB and podophyllotoxin Academic Article
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Genetic, structural and clinical analysis of spastic paraplegia 4 Academic Article
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Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity Academic Article
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Genetics of microenvironmental canalization in
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Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin Academic Article
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Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen Academic Article
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Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Academic Article
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Genomic Consequences of Background Effects on scalloped Mutant Expressivity in the Wing of Drosophila melanogaster Academic Article
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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Academic Article
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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
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Genotypic and Phenotypic Analyses of Two “Isogenic” Strains of the Human Fungal Pathogen Cryptococcus neoformans var. neoformans Academic Article
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Identification of a novel β0 - thalassaemia mutation in a greek family and subsequent prenatal diagnosis Academic Article
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Identification of amidoheteroaryls as potent inhibitors of mutant (V600E) B-Raf kinase with in vivo activity 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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Identification of the MMRN1 Binding Region within the C2 Domain of Human Factor V Academic Article
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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. Academic Article
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Igf1r+/CD34+ immature ICC are putative adult progenitor cells, identified ultrastructurally as fibroblast-like ICC in Ws/Ws rat colon Academic Article
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Imatinib for Melanomas Harboring Mutationally Activated or Amplified KIT Arising on Mucosal, Acral, and Chronically Sun-Damaged Skin Academic Article
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Immunofluorometric assay of p53 protein versus sequencing of p53 exons 5 to 9 for the detection of p53 abnormalities in ovarian carcinoma. Academic Article
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Immunogenic HSV-mediated Oncolysis Shapes the Antitumor Immune Response and Contributes to Therapeutic Efficacy Academic Article
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Immunological studies with different classes of mutants affected at the adenosine kinase locus in CHO cells Academic Article
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Immunoreactivity of the phosphorylated axonal neurofilament H subunit (pNF-H) in blood of ALS model rodents and ALS patients: evaluation of blood pNF-H as a potential ALS biomarker Academic Article
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Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation Academic Article
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Impaired cleavage of the joint gag-pol polyprotein precursor and virion assembly in a temperature-sensitive mutant of rous sarcoma virus Academic Article
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Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies Academic Article
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Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes Academic Article
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Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada Academic Article
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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
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Induction of Escherichia coli hydroperoxidase I by acetate and other weak acids Academic Article
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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
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Induction of multiple PCR-SSCPE mobility shifts in exons in cultures of normal human urothelium exposed to low-dose gamma radiation Academic Article
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Induction of raft-like domains by a myristoylated NAP-22 peptide and its Tyr mutant Academic Article
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Influence of Tertiary paleoenvironmental changes on the diversification of South American mammals: a relaxed molecular clock study within xenarthrans. Academic Article
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Inhibition of Metabotropic Glutamate Receptor Signaling by the Huntingtin-binding Protein Optineurin Academic Article
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Inhibition of endogenous MTF-1 signaling in zebrafish embryos identifies novel roles for MTF-1 in development Academic Article
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Inhibition of metabolic cooperation by phorbol esters in a cell culture system based on adenosine kinase deficient mutants of V79 cells Academic Article
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Insertional mutagenesis using a synthetic lac operator Academic Article
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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome Academic Article
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Integrated genomic characterization of oesophageal carcinoma Academic Article
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Integrins Regulate Responsiveness to Slit Repellent Signals Academic Article
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Intersegment contacts determine geometry of the open and closed states in P-loop channels Academic Article
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Intron-specific patterns of divergence of lin-11 regulatory function in the C. elegans nervous system Academic Article
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Lentiviral vectors pseudotyped with minimal filovirus envelopes increased gene transfer in murine lung Academic Article
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Lineage-specific mutational clustering in protein structures predicts evolutionary shifts in function Academic Article
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Long-chain fatty acyl-CoA esters regulate metabolism via allosteric control of AMPK β1 isoforms Academic Article
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Long-term effects of ionizing radiation after the Chernobyl accident: Possible contribution of historic dose Academic Article
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Low salt concentrations activate AMP-activated protein kinase in mouse macula densa cells Academic Article
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Lunatic Fringe-mediated Notch signaling is required for lung alveogenesis Academic Article
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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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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Academic Article
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Magnetic Resonance Imaging Improves Breast Screening Sensitivity in BRCA Mutation Carriers Age ≥ 50 Years: Evidence From an Individual Patient Data Meta-Analysis Academic Article
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Male Sexual Dysfunction in Mice Bearing Targeted Mutant Alleles of the
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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 Academic Article
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Management of the BRCA Mutation Carrier or High-Risk Patient Academic Article
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Menin Links the Stress Response to Genome Stability in Drosophila melanogaster Academic Article
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Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma Academic Article
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Metabolic response by FDG-PET to imatinib correlates with exon 11 KIT mutation and predicts outcome in patients with mucosal melanoma 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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Mutants of chinese hamster ovary cells affected in two different microtubule-associated proteins. Genetic and biochemical studies. Academic Article
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Mutation of Any Site of N-Linked Glycosylation Accelerates the In Vivo Clearance of Recombinant Rabbit Antithrombin Academic Article
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Mutational analysis of state-dependent contacts in the pore module of eukaryotic sodium channels Academic Article
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Mutational analysis of the herpes simplex virus trans-inducing factor Vmw65 Academic Article
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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
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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Academic Article
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Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas 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
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation Academic Article
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Mutations in the conserved carboxy-terminal hydrophobic region of glycoprotein gB affect infectivity of herpes simplex virus Academic Article
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Mutations in the genestand still disrupt germ cell differentiation inDrosophila ovaries Academic Article
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Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants Academic Article
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Mutations in the transmembrane helix S6 of domain IV confer cockroach sodium channel resistance to sodium channel blocker insecticides and local anesthetics Academic Article
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Mutations inCaenorhabditis briggsaeidentify new genes important for limiting the response to EGF signaling during vulval development Academic Article
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Mutations inKCNT1cause a spectrum of focal epilepsies Academic Article
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly Academic Article
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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
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Mycoplasma genitalium Antibiotic Resistance–Mediating Mutations in Canadian Women With or Without Chlamydia Trachomatis Infection Academic Article
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Myristoylation, a Protruding Loop, and Structural Plasticity Are Essential Features of a Nonenveloped Virus Fusion Peptide Motif Academic Article
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Natural Selection for Nucleotide Usage at Synonymous and Nonsynonymous Sites in Influenza A Virus Genes Academic Article
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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Academic Article
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Network meta-analysis of therapies for previously untreated advanced BRAF-mutated melanoma Academic Article
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Neural change inTrichinella-infected mice is MHC II independent and involves M-CSF-derived macrophages Academic Article
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Noncanonical protein kinase A activation by oligomerization of regulatory subunits as revealed by inherited Carney complex mutations Academic Article
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Nonrandom insertion of Tn5 into cloned human adeno virus DNA Academic Article
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Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease Academic Article
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Novel 95G>A (R32K) somatic mosaic connexin 32 mutation Academic Article
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Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot 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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Paternal transmission of fragile X syndrome Academic Article
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Pathbase: a database of mutant mouse pathology Academic Article
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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 Academic Article
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Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome) Academic Article
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Perturbed glial scaffold formation precedes axon tract malformation inDrosophila mutants Academic Article
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Pertussis toxin stimulates hypersensitivity and enhances nerve-mediated antigen uptake in rat intestine Academic Article
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Pervasive Cryptic Epistasis in Molecular Evolution Academic Article
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Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes Academic Article
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Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers Academic Article
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Phenotypic Diversity Caused by Differential RpoS Activity among Environmental Escherichia coli Isolates Academic Article
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Phosphoethanolamine substitution in the lipid A of Escherichia coli O157 : H7 and its association with PmrC Academic Article
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Phosphorylation switches Bax from promoting to inhibiting apoptosis thereby increasing drug resistance Academic Article
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Photodynamic Therapy Resistant Human Colon Carcinoma HT29 Cells Show Cross-Resistance to UVA but not UVC Light Academic Article
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Physical Interaction with Human Tumor-derived p53 Mutants Inhibits p63 Activities Academic Article
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PilM/N/O/P Proteins Form an Inner Membrane Complex That Affects the Stability of the Pseudomonas aeruginosa Type IV Pilus Secretin Academic Article
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Plasmid-borne Tn5 insertion mutation resulting in accumulation of gentisate from salicylate Academic Article
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Plasticity, Hippocampal Place Cells, and Cognitive Maps Academic Article
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Podophyllotoxin resistance: A codominant selection system for quantitative mutagenesis studies in mammalian cells Academic Article
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Podophyllotoxin-resistant mutants of Chinese hamster ovary cells. Alteration in a microtubule-associated protein. Academic Article
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Podophyllotoxin-resistant mutants of Chinese hamster ovary cells: cross-resistance studies with various microtubule inhibitors and podophyllotoxin analogues. Academic Article
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Polyglutamine domain flexibility mediates the proximity between flanking sequences in huntingtin Academic Article
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Polyomavirus origin for DNA replication comprises multiple genetic elements Academic Article
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Polyomavirus-plasmid recombinants capable of replicating have an enhanced transforming potential. Academic Article
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Polyphosphate binds with high affinity to exosite II of thrombin Academic Article
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Population-based prevalence ofCDKN2A andCDK4 mutations in patients with multiple primary melanomas Academic Article
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Positive selection for loss of RpoS function in Escherichia coli Academic Article
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Possible association between rhabdomyolysis and mRNA SARS-CoV-2 vaccination in a patient with RYR1 gene mutation Academic Article
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Postirradiation Expression of Lethal Mutations in an Immortalized Human Keratinocyte Cell Line Academic Article
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Predictors of the post‐thrombotic syndrome during long‐term treatment of proximal deep vein thrombosis Academic Article
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Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Academic Article
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Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing Academic Article
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Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene Academic Article
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Proteolytic Cleavage of Ataxin-7 by Caspase-7 Modulates Cellular Toxicity and Transcriptional Dysregulation Academic Article
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Pseudomonas aeruginosa d-Arabinofuranose Biosynthetic Pathway and Its Role in Type IV Pilus Assembly Academic Article
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Pseudomonas aeruginosa type IV minor pilins and PilY1 regulate virulence by modulating FimS-AlgR activity Academic Article
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Psychotic Symptoms in Frontotemporal Dementia Academic Article
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Pulmonary Fibrosis Academic Article
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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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Quantitative mutagenesis at the adenosine kinase locus in Chinese hamster ovary cells Academic Article
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Quebec platelet disorder Academic Article
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Quizartinib for the treatment of acute myeloid leukemia Academic Article
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RETRACTED ARTICLE:Exercise-induced mitochondrial p53
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Radiation-induced carcinogenesis:Studies using human epithelial cell lines Academic Article
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Rapid Insulin-like Growth Factor-1-induced Changes in Granulosa Cell Thrombospondin-1 Expression In Vitro Academic Article
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Reactivation of mutant p53 by a dietary-related compound phenethyl isothiocyanate inhibits tumor growth Academic Article
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Recent insights into neuromuscular junction biology in Duchenne muscular dystrophy: Impacts, challenges, and opportunities Academic Article
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Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario. Academic Article
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Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia. Academic Article
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Recovery of the radiation survival-curve shoulder in CHO-KI, XRS-5 and revertant XRS-5 populations Academic Article
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Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy Academic Article
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Redox State and Mitochondrial Respiratory Chain Function in Skeletal Muscle of LGMD2A Patients Academic Article
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Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in AdolescentShank3Null Mutant Mice Academic Article
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Reduced Virulence of Group A Streptococcal Tn
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Reduction of thrombus size in murine models of thrombosis following administration of recombinant α1-proteinase inhibitor mutant proteins Academic Article
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Redundant and non-functional guide RNA genes in Trypanosoma brucei are a consequence of multiple genes per minicircle Academic Article
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Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia Academic Article
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Repeated mutagenesis and the selection of recessive and dominant mutations in cultured mammalian cells Academic Article
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Resistance to the microtubule inhibitor podophyllotoxin: Selection and partial characterization of mutants in CHO cells Academic Article
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Risk Factors for High-Titer Inhibitor Development in Children with Hemophilia A: Results of a Cohort Study Academic Article
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Risk factors for ovarian cancer and early-onset breast cancer in Mongolia. Academic Article
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Role of glycosylation in transport of vesicular stomatitis virus envelope glycoprotein. A new class of mutant defective in glycosylation and transport of G protein. Academic Article
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SHANK1 Deletions in Males with Autism Spectrum Disorder Academic Article
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Sampling the Antibiotic Resistome Academic Article
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Second symbiotic megaplasmid in Rhizobium meliloti carrying exopolysaccharide and thiamine synthesis genes Academic Article
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Second-Line Treatment of Non-Small Cell Lung Cancer: New Developments for Tumours Not Harbouring Targetable Oncogenic Driver Mutations Academic Article
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Sex-Linked Mammalian Sperm Proteins Evolve Faster Than Autosomal Ones 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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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families Academic Article
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The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology Academic Article
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The Solution Structure and Dynamics of an Arc Repressor Mutant Reveal Premelting Conformational Changes Related to DNA Binding Academic Article
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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 Academic Article
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The T----C substitution at nucleotide + 1570 of the beta-globin gene is a polymorphism [letter; comment] Academic Article
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The Winged Helix Domain of CSB Regulates RNAPII Occupancy at Promoter Proximal Pause Sites Academic Article
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The advantage of recombination when selection is acting at many genetic Loci Academic Article
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The alpha-globin gene cluster: genetics and disorders. Academic Article
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The amino terminus of polyomavirus middle T antigen is required for transformation Academic Article
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The association between smoking and cancer incidence in BRCA1
and BRCA2
mutation carriers Academic Article
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The cytoplasmic domain is critical to the tumor suppressor activity of TSLC1 in non-small cell lung cancer. Academic Article
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The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes Academic Article
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The effect of E1 mutations on biochemical transformation by an adenovirus carrying the herpes simplex virus thymidine kinase gene in region E3 Academic Article
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The environmental and genetic regulation of obake expressivity: morphogenetic fields as evolvable systems Academic Article
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The execution of the transcriptional axis mutant p53, E2F1 and ID4 promotes tumor neo-angiogenesis Academic Article
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The expression of a novel antisense gene mediates incompatibility within the large repABC family of α-proteobacterial plasmids Academic Article
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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. Academic Article
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The hemochromatosis gene. Academic Article
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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 incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study Academic Article
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The inhibition of endocytosis affects HDL-lipid uptake mediated by the human scavenger receptor class B type I Academic Article
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The isolation and preliminary characterization of somatic cell mutants resistant to the protein synthesis inhibitor—Emetine Academic Article
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The major site of tyrosine phosphorylation in polyomavirus middle T antigen is not required for transformation Academic Article
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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 Academic Article
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The midline of the drosophila central nervous system: A model for the genetic analysis of cell fate, cell migration, and growth cone guidance Academic Article
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The molecular basis of emetine resistance in chinese hamster ovary cells: Alteration in the 40S ribosomal subunit Academic Article
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The mutant p53‐ID4 complex controls VEGFA isoforms by recruiting lncRNA MALAT1 Academic Article
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The non-motile phenotype of Salmonella hha ydgT mutants is mediated through PefI-SrgD Academic Article
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The oncogenic role of circPVT1 in head and neck squamous cell carcinoma is mediated through the mutant p53/YAP/TEAD transcription-competent complex Academic Article
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The origin and spread of a cooperative replicase in a prebiotic chemical system Academic Article
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The origins and potential future of SARS-CoV-2 variants of concern in the evolving COVID-19 pandemic Academic Article
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The paradox of HBV evolution as revealed from a 16th century mummy 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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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. Academic Article
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The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele
BRCA2
6174delT
Academic Article
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The risks of cancer in older women with
BRCA
pathogenic variants: How far have we come? Academic Article
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The role of ICP0-Null HSV-1 and interferon signaling defects in the effective treatment of breast adenocarcinoma Academic Article
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The role of molybdenum in the synthesis of Neurospora nitrate reductase Academic Article
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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 Academic Article
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The status of glycolaldehyde in the biosynthesis of vitamin B6. Academic Article
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The survival probability of a mutant in a multidimensional population Academic Article
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The tamas Gene, Identified as a Mutation That Disrupts Larval Behavior in Drosophila melanogaster, Codes for the Mitochondrial DNA Polymerase Catalytic Subunit (DNApol-γ125) Academic Article
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The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis Academic Article
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The tissue polarity gene nemo carries out multiple roles in patterning during Drosophila development Academic Article
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The worm turns for antimicrobial discovery Academic Article
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ThemviNhomolog inBurkholderia pseudomalleiis essential for viability and virulence Academic Article
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Therapeutic Potential of Spleen Tyrosine Kinase Inhibition for Treating High-Risk Precursor B Cell Acute Lymphoblastic Leukemia Academic Article
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Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas Academic Article
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Therapy for Stage IV Non–Small-Cell Lung Cancer With Driver Alterations: ASCO and OH (CCO) Joint Guideline Update Academic Article
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There is more to life and death than mitochondria: Bcl-2 proteins at the endoplasmic reticulum Academic Article
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Thiostrepton Hijacks Pyoverdine Receptors To Inhibit Growth of Pseudomonas aeruginosa Academic Article
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Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening Academic Article
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Three New β-Thalassemia Mutations with Varying Degrees of Severity Academic Article
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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
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Three sodium channel mutations from Aedes albopictus confer resistance to Type I, but not Type II pyrethroids Academic Article
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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
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Thrombin Hydrolysis of Human Osteopontin Is Dependent on Thrombin Anion-binding Exosites Academic Article
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Thrombin-activatable procarboxypeptidase B regulates activated complement C5a in vivo Academic Article
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Thromboepidemiology: Identifying patients with heritable risk for thrombin-mediated thromboembolic events Academic Article
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Thrombophilia and location of venous thromboembolism Academic Article
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Thrombosis in children with acute lymphoblastic leukemia Academic Article
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Thrombosis in inherited factor VII deficiency Academic Article
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Tissue-Specific Regulation of the LIM Homeobox Gene lin-11 during Development of the Caenorhabditis elegans Egg-Laying System Academic Article
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Tn5 mutagenesis of the transforming genes of human adenovirus type 5 Academic Article
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Tracing Sequence Diversity Change of RNA-Cleaving Deoxyribozymes under Increasing Selection Pressure during in Vitro Selection Academic Article
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Trait-to-Gene Academic Article
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Transcriptional Activation by DNA-Binding Derivatives of HSV-1 VP16 That Lack the Carboxyl-Terminal Acidic Activation Domain Academic Article
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Transcriptional induction of the conserved alternative sigma factor RpoS in Escherichia coli is dependent on BarA, a probable two-component regulator Academic Article
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Transcriptional regulation of katE in Escherichia coli K-12 Academic Article
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Transcriptional upregulation of p21/WAF/Cip1 in myeloid leukemic blasts expressing AML1-ETO Academic Article
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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
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Transection of dysmyelinated optic nerve axons in adult rats lacking myelin basic protein Academic Article
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Transformation of rodent cells by DNA extracted from transformation-defective adenovirus mutants Academic Article
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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
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Transient caloric restriction in early adulthood hastens disease endpoint in male, but not female, Cu/Zn-SOD mutant G93A mice Academic Article
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Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report Academic Article
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Transient virulence of emerging pathogens Academic Article
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Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation Academic Article
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia Academic Article
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Tumor antigens of human ad5 in transformed cells and in cells infected with transformation-defective host-range mutants Academic Article
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Tumor protein expression of the DNA repair gene BRCA1 and lethal prostate cancer Academic Article
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Two Conserved Histidine Residues Are Critical to the Function of the TagF-like Family of Enzymes Academic Article
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Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis Academic Article
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Two distinct TP53 mutations in HNSCC primary tumor: Only one circulates in the blood Academic Article
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Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments] Academic Article
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Two novel mitochondrial tRNA mutations, A7495G (tRNASer(UCN)) and C5577T (tRNATrp), are associated with seizures and cardiac dysfunction Academic Article
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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
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Type IV pilins regulate their own expression via direct intramembrane interactions with the sensor kinase PilS Academic Article
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Type and intensity of FVIII exposure on inhibitor development in PUPs with haemophilia A Academic Article
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Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis Academic Article
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Use of In-Biofilm Expression Technology To Identify Genes Involved in
Pseudomonas aeruginosa
Biofilm Development Academic Article
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Using in-cell SHAPE-Seq and simulations to probe structure–function design principles of RNA transcriptional regulators Academic Article
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Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Academic Article
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VSV strains with defects in their ability to shutdown innate immunity are potent systemic anti-cancer agents Academic Article
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Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V Academic Article
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Variable distribution of mutant mitochondria1 DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation Academic Article
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Variants of theorexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity Academic Article
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Variation and heritability of Hb F and F-cells among β-thalassemia heterozygotes in Hong Kong Academic Article
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Virulence of a Porphyromonas gingivalis W83 mutant defective in the prtH gene Academic Article
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W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity Academic Article
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WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma Academic Article
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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations Academic Article
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Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers Conference Paper
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Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias Academic Article
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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study Academic Article
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Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families Academic Article
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Why Does the Inner-Helix Mutation A413C Double the Stoichiometry of Kv1.3 Channel Block by Emopamil but Not by Verapamil? Academic Article
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Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice Academic Article
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Workflow and Throughput of Commercial Assays to Detect Mycoplasma genitalium and Macrolide Resistance–Mediating Mutations Academic Article
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XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediated telomere shortening Academic Article
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XRCC4's interaction with XLF is required for coding (but not signal) end joining Academic Article
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c.1058C>T variant in theSERPINC1gene is pathogenic for antithrombin deficiency Academic Article
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l-Cysteine is required for induced antibiotic resistance in actively swarming Salmonella enterica serovar Typhimurium Academic Article
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p53 is involved in the differentiation but not in the differentiation-associated apoptosis of myoblasts Academic Article
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p53 mutations and protein expression in primary cultures of normal oral mucosa in smokers and non-smokers Academic Article
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p53-paralog DNp73 oncogene is repressed by IFNα/STAT2 through the recruitment of the Ezh2 polycomb group transcriptional repressor Academic Article
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p73-Mediated Chemosensitivity: A Preferential Target of Oncogenic Mutant p53 Academic Article
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tBid Undergoes Multiple Conformational Changes at the Membrane Required for Bax Activation Academic Article
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α-Mannosidase 2C1 attenuates PTEN function in prostate cancer cells Academic Article
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α-Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis Academic Article
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β-Catenin Overexpression in the Metanephric Mesenchyme Leads to Renal Dysplasia Genesis via Cell-Autonomous and Non–Cell-Autonomous Mechanisms Academic Article
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β-Subunit of the voltage-gated Ca
2+
channel Cav1.2 drives signaling to the nucleus via H-Ras Academic Article
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β-arrestin1/YAP/mutant p53 complexes orchestrate the endothelin A receptor signaling in high-grade serous ovarian cancer Academic Article
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β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C] Academic Article
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γT‐S195A thrombin reduces the anticoagulant effects of dabigatran in vitro and in vivo Academic Article