Amino Acid Substitution
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subject area of
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In VivoClearance of Alpha-1 Acid Glycoprotein Is Influenced by the Extent of Its N-Linked Glycosylation and by Its Interaction with the Vessel Wall Academic Article
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MTNR1B G24E Variant Associates With BMI and Fasting Plasma Glucose in the General Population in Studies of 22,142 Europeans Academic Article
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TSPEAR
variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study 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 Single Amino Acid Substitution in Herpes Simplex Virus Type 1 VP16 Inhibits Binding to the Virion Host Shutoff Protein and Is Incompatible with Virus Growth Academic Article
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A covalently linked recombinant albumin dimer is more rapidly cleared in vivo than are wild-type and mutant C34A albumin Academic Article
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A four-column theory for the origin of the genetic code: tracing the evolutionary pathways that gave rise to an optimized code Academic Article
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A novel candidate region for ALS on chromosome 14q11.2 Academic Article
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A novel fluorescent reporter sensitive to serine mis-incorporation Academic Article
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A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy Academic Article
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A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer. Academic Article
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Accelerated Evolutionary Rate of Housekeeping Genes in Tunicates Academic Article
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Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms Academic Article
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Accuracy of p53 Codon 72 Polymorphism Status Determined by Multiple Laboratory Methods: A Latent Class Model Analysis Academic Article
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Active site residue identity regulates cleavage preference of LAGLIDADG homing endonucleases Academic Article
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Allosteric Site Variants of Haemophilus influenzae β-Carbonic Anhydrase Academic Article
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Alpha-1 proteinase inhibitor M358R reduces thrombin generation when displayed on the surface of cells expressing tissue factor Academic Article
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An Extensive Interaction Interface between Thrombin and Factor V Is Required for Factor V Activation Academic Article
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Arginine Methylation Regulates Telomere Length and Stability 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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Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population Academic Article
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Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS Academic Article
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Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Academic Article
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Brain-derived neurotrophic factor val66met polymorphism affects prefrontal energy metabolism in bipolar disorder Academic Article
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Brain-derived neurotrophic factor variants are associated with childhood-onset mood disorder: confirmation in a Hungarian sample Academic Article
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Bursts of nonsynonymous substitutions in HIV-1 evolution reveal instances of positive selection at conservative protein sites Academic Article
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Catechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD Academic Article
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Characterization of mice harboring a variant of EPCR with impaired ability to bind protein C: novel role of EPCR in hematopoiesis Academic Article
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Characterization of the spike protein of human coronavirus NL63 in receptor binding and pseudotype virus entry Academic Article
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Chronic Renal Failure and Proteinuria in Adulthood: Fabry Disease Predominantly Affecting the Kidneys Academic Article
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Clonal Expansion and Emergence of Environmental Multiple-Triazole-Resistant Aspergillus fumigatus Strains Carrying the TR34/L98H Mutations in the cyp51A Gene in India Academic Article
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Comparison of mammalian and bacterial expression library screening to detect recombinant alpha-1 proteinase inhibitor variants with enhanced thrombin inhibitory capacity☆ Academic Article
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Complete genome sequence of a raccoon rabies virus isolate Academic Article
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Computational Study of the Binding Modes of Caffeine to the Adenosine A2A Receptor Academic Article
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Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner Academic Article
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Decoding the Functional Roles of Cationic Side Chains of the Major Antimicrobial Region of Human Cathelicidin LL-37 Academic Article
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Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape Academic Article
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Definition of a Consensus Transportin-specific Nucleocytoplasmic Transport Signal Academic Article
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Directionality in the evolution of influenza A haemagglutinin Academic Article
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Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Academic Article
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Domain Mapping of Heat Shock Protein 70 Reveals That Glutamic Acid 446 and Arginine 447 Are Critical for Regulating Superoxide Dismutase 2 Function Academic Article
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Dynamics of the Fragment of Thrombomodulin Containing the Fourth and Fifth Epidermal Growth Factor-like Domains Correlate with Function Academic Article
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ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study Academic Article
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Effect of ENPP1/PC-1-K121Q and PPARγ-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population Academic Article
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Effects of Double-Site Mutations of Vesicular Stomatitis Virus Glycoprotein G on Membrane Fusion Activity Academic Article
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Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis Academic Article
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Eliminating Competition: Characterizing and Eliminating Competitive Binding at Separate Sites between DAHP Synthase’s Essential Metal Ion and the Inhibitor DAHP Oxime Academic Article
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Estrogen Receptor-α and Endothelial Nitric Oxide Synthase Nuclear Complex Regulates Transcription of Human Telomerase Academic Article
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Evidence for Dual Binding Sites for 1,1,1-Trichloro-2,2-bis(p-chlorophenyl)ethane (DDT) in Insect Sodium Channels Academic Article
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Fluoroquinolone Resistance in Clinical Isolates of
Streptococcus pneumoniae
: Contributions of Type II Topoisomerase Mutations and Efflux to Levels of Resistance Academic Article
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Free energy landscape remodeling of the cardiac pacemaker channel explains the molecular basis of familial sinus bradycardia Academic Article
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Full or Partial Substitution of the Reactive Center Loop of α-1-Proteinase Inhibitor by that of Heparin Cofactor II: P1 Arg Is Required for Maximal Thrombin Inhibition Academic Article
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Functional Analysis of Disulfide Linkages Clustered within the Amino Terminus of Human Apolipoprotein B Academic Article
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Gauging a Hydrocarbon Ruler by an Intrinsic Exciton Probe Academic Article
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Gene symbol: ARSA. Academic Article
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Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia Academic Article
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Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background Academic Article
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Hemoglobin shady grove: A novel fetal methemoglobin variant Academic Article
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Heparin cofactor II is more sensitive than antithrombin to secretory impairment arising from mutations introduced into its carboxy-terminal region Academic Article
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How Batrachotoxin Modifies the Sodium Channel Permeation Pathway: Computer Modeling and Site-Directed Mutagenesis Academic Article
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IMPACT OF MUTATIONS AT THE P4 AND P5 POSITIONS ON THE REACTION OF ANTITHROMBIN WITH THROMBIN AND ELASTASE Academic Article
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Identification of Cadherin 2 (
CDH2
) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy Academic Article
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Identification of Critical Residues on Thrombin Mediating Its Interaction with Fibrin Academic Article
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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy Academic Article
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Identification of the Binding Site of Brucella VirB8 Interaction Inhibitors Academic Article
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Identification of the Catalytic Residues of AroA (Enolpyruvylshikimate 3-Phosphate Synthase) Using Partitioning Analysis Academic Article
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Identification of the Mechanism Responsible for the Increased Fibrin Specificity of TNK-Tissue Plasminogen Activator Relative to Tissue Plasminogen Activator Academic Article
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Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population Academic Article
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Inscribing the Perimeter of the PagP Hydrocarbon Ruler by Site-Specific Chemical Alkylation Academic Article
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Interspecies exchange mutagenesis of the first epidermal growth factor-like domain of human factor VII Academic Article
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Investigating serpin–enzyme complex formation and stability via single and multiple residue reactive centre loop substitutions in heparin cofactor II Academic Article
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Investigating the effect of a single glycine to alanine substitution on interactions of antimicrobial peptide latarcin 2a with a lipid membrane Academic Article
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Investigating the effects of L- to D-amino acid substitution and deamidation on the activity and membrane interactions of antimicrobial peptide anoplin Academic Article
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JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis Academic Article
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Life-Threatening Thrombosis in Mice With Targeted Arg48-to-Cys Mutation of the Heparin-Binding Domain of Antithrombin 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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Mammalian Sperm Proteins Are Rapidly Evolving: Evidence of Positive Selection in Functionally Diverse Genes Academic Article
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Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines Academic Article
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Mapping the Free Energy Landscape of PKA Inhibition and Activation: A Double-Conformational Selection Model for the Tandem cAMP-Binding Domains of PKA RIα Academic Article
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Mapping the Substrate Recognition Landscapes of Metalloproteases Using Comprehensive Mutagenesis Academic Article
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Modifying a covarying protein–DNA interaction changes substrate preference of a site-specific endonuclease Academic Article
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Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency Academic Article
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Molecular Mechanism of the Enterococcal Aminoglycoside 6‘-N-Acetyltransferase‘: Role of GNAT-Conserved Residues in the Chemistry of Antibiotic Inactivation Academic Article
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Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti Academic Article
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Molecular genetic analysis of severe protein C deficiency. Academic Article
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Multiple Mechanisms Promote the Retained Expression of Gene Duplicates in the Tetraploid Frog Xenopus laevis 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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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism 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 transmembrane proteins: diseases, evolutionary insights, prediction and comparison with globular proteins Academic Article
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NLS-dependent nuclear localization of p120ctnis necessary to relieve Kaiso-mediated transcriptional repression Academic Article
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NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)] Academic Article
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Naked but Not Hairless: The Pitfalls of Analyses of Molecular Adaptation Based on Few Genome Sequence Comparisons Academic Article
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Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder Academic Article
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New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A2-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG] Academic Article
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Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G] Academic Article
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Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)] Academic Article
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PON1 Q192R genetic variant and response to clopidogrel and prasugrel: pharmacokinetics, pharmacodynamics, and a meta-analysis of clinical outcomes Academic Article
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Pervasive Cryptic Epistasis in Molecular Evolution Academic Article
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Population-based prevalence ofCDKN2A andCDK4 mutations in patients with multiple primary melanomas Academic Article
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Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus Academic Article
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Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia Academic Article
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Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals Academic Article
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Real-Time PCR Assay for Rapid Detection and Analysis of PfCRT Haplotypes of Chloroquine-Resistant
Plasmodium falciparum
Isolates from India Academic Article
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RhoA Activation in Mesangial Cells by Mechanical Strain Depends on Caveolae and Caveolin-1 Interaction Academic Article
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Role of the Glu Residues of the Influenza Hemagglutinin Fusion Peptide in the pH Dependence of Fusion Activity Academic Article
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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Academic Article
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Sampling the Antibiotic Resistome Academic Article
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Serine-401 as a batrachotoxin- and local anesthetic-sensing residue in the human cardiac Na+ channel Academic Article
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Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population Academic Article
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Structural Insights into the Regulation of Foreign Genes in Salmonella by the Hha/H-NS Complex Academic Article
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Structural requirements for the activation of human factor VIII by thrombin Academic Article
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Structure and Function of APH(4)-Ia, a Hygromycin B Resistance Enzyme Academic Article
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The Ancient Drug Salicylate Directly Activates AMP-Activated Protein Kinase Academic Article
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The Cancer-associated K351N Mutation Affects the Ubiquitination and the Translocation to Mitochondria of p53 Protein Academic Article
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The Genesis and Spread of Reassortment Human Influenza A/H3N2 Viruses Conferring Adamantane Resistance Academic Article
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The Q121 Variant of ENPP1 May Protect From Childhood Overweight/obesity in the Italian Population Academic Article
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The Role of Proline in the Membrane Re-entrant Helix of Caveolin-1 Academic Article
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The Transferable Tail: Fusion of the N-Terminal Acidic Extension of Heparin Cofactor II to α1-Proteinase Inhibitor M358R Specifically Increases the Rate of Thrombin Inhibition Academic Article
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The complete N-terminal extension of heparin cofactor II is required for maximal effectiveness as a thrombin exosite 1 ligand Academic Article
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The ectodomain of HA2 of influenza virus promotes rapid ph dependent membrane fusion 1 1Edited by A. R. Fersht Academic Article
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The molecular basis of the expansive substrate specificity of the antibiotic resistance enzyme aminoglycoside acetyltransferase-6'-aminoglycoside phosphotransferase-2". The role of ASP-99 as an active site base important for acetyl transfer Academic Article
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Type IV Pilus Alignment Subcomplex Proteins PilN and PilO Form Homo- and Heterodimers in Vivo Academic Article
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Val66Met polymorphism and serum brain-derived neurotrophic factor in bipolar disorder: an open-label trial 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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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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XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediated telomere shortening Academic Article