Amino Acid Substitution Concept

subject area of

• 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
• MTNR1B G24E Variant Associates With BMI and Fasting Plasma Glucose in the General Population in Studies of 22,142 Europeans  Academic Article
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Academic Article
• A Single Amino Acid Change in the Response Regulator PhoP, Acquired during Yersinia pestis Evolution, Affects PhoP Target Gene Transcription and Polymyxin B Susceptibility  Academic Article
• A 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
• A covalently linked recombinant albumin dimer is more rapidly cleared in vivo than are wild-type and mutant C34A albumin  Academic Article
• A four-column theory for the origin of the genetic code: tracing the evolutionary pathways that gave rise to an optimized code  Academic Article
• A novel candidate region for ALS on chromosome 14q11.2  Academic Article
• A novel fluorescent reporter sensitive to serine mis-incorporation  Academic Article
• A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy  Academic Article
• A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer.  Academic Article
• Accelerated Evolutionary Rate of Housekeeping Genes in Tunicates  Academic Article
• Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms  Academic Article
• Accuracy of p53 Codon 72 Polymorphism Status Determined by Multiple Laboratory Methods: A Latent Class Model Analysis  Academic Article
• Active site residue identity regulates cleavage preference of LAGLIDADG homing endonucleases  Academic Article
• Allosteric Site Variants of Haemophilus influenzae β-Carbonic Anhydrase  Academic Article
• Alpha-1 proteinase inhibitor M358R reduces thrombin generation when displayed on the surface of cells expressing tissue factor  Academic Article
• An Extensive Interaction Interface between Thrombin and Factor V Is Required for Factor V Activation  Academic Article
• Arginine Methylation Regulates Telomere Length and Stability  Academic Article
• Assay of HIV gp41 amino acid sequence to identify baseline variation and mutation development in patients with virologic failure on enfuvirtide☆  Academic Article
• Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population  Academic Article
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Academic Article
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Academic Article
• Brain-derived neurotrophic factor val66met polymorphism affects prefrontal energy metabolism in bipolar disorder  Academic Article
• Brain-derived neurotrophic factor variants are associated with childhood-onset mood disorder: confirmation in a Hungarian sample  Academic Article
• Bursts of nonsynonymous substitutions in HIV-1 evolution reveal instances of positive selection at conservative protein sites  Academic Article
• Catechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD  Academic Article
• Characterization of mice harboring a variant of EPCR with impaired ability to bind protein C: novel role of EPCR in hematopoiesis  Academic Article
• Characterization of the spike protein of human coronavirus NL63 in receptor binding and pseudotype virus entry  Academic Article
• Chronic Renal Failure and Proteinuria in Adulthood: Fabry Disease Predominantly Affecting the Kidneys  Academic Article
• 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
• Comparison of mammalian and bacterial expression library screening to detect recombinant alpha-1 proteinase inhibitor variants with enhanced thrombin inhibitory capacity☆  Academic Article
• Complete genome sequence of a raccoon rabies virus isolate  Academic Article
• Computational Study of the Binding Modes of Caffeine to the Adenosine A_2A Receptor  Academic Article
• Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner  Academic Article
• Decoding the Functional Roles of Cationic Side Chains of the Major Antimicrobial Region of Human Cathelicidin LL-37  Academic Article
• Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape  Academic Article
• Definition of a Consensus Transportin-specific Nucleocytoplasmic Transport Signal  Academic Article
• Directionality in the evolution of influenza A haemagglutinin  Academic Article
• Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?  Academic Article
• 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
• Dynamics of the Fragment of Thrombomodulin Containing the Fourth and Fifth Epidermal Growth Factor-like Domains Correlate with Function  Academic Article
• ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study  Academic Article
• Effect of ENPP1/PC-1-K121Q and PPARγ-Pro12Ala polymorphisms on the genetic susceptibility to T2D in the Tunisian population  Academic Article
• Effects of Double-Site Mutations of Vesicular Stomatitis Virus Glycoprotein G on Membrane Fusion Activity  Academic Article
• Effects of high-intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis  Academic Article
• Eliminating Competition: Characterizing and Eliminating Competitive Binding at Separate Sites between DAHP Synthase’s Essential Metal Ion and the Inhibitor DAHP Oxime  Academic Article
• Estrogen Receptor-α and Endothelial Nitric Oxide Synthase Nuclear Complex Regulates Transcription of Human Telomerase  Academic Article
• Evidence for Dual Binding Sites for 1,1,1-Trichloro-2,2-bis(p-chlorophenyl)ethane (DDT) in Insect Sodium Channels  Academic Article
• Fluoroquinolone Resistance in Clinical Isolates of Streptococcus pneumoniae : Contributions of Type II Topoisomerase Mutations and Efflux to Levels of Resistance  Academic Article
• Free energy landscape remodeling of the cardiac pacemaker channel explains the molecular basis of familial sinus bradycardia  Academic Article
• 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
• Functional Analysis of Disulfide Linkages Clustered within the Amino Terminus of Human Apolipoprotein B  Academic Article
• Gauging a Hydrocarbon Ruler by an Intrinsic Exciton Probe  Academic Article
• Gene symbol: ARSA.  Academic Article
• Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia  Academic Article
• Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background  Academic Article
• Hemoglobin shady grove: A novel fetal methemoglobin variant  Academic Article
• Heparin cofactor II is more sensitive than antithrombin to secretory impairment arising from mutations introduced into its carboxy-terminal region  Academic Article
• How Batrachotoxin Modifies the Sodium Channel Permeation Pathway: Computer Modeling and Site-Directed Mutagenesis  Academic Article
• IMPACT OF MUTATIONS AT THE P4 AND P5 POSITIONS ON THE REACTION OF ANTITHROMBIN WITH THROMBIN AND ELASTASE  Academic Article
• Identification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy  Academic Article
• Identification of Critical Residues on Thrombin Mediating Its Interaction with Fibrin  Academic Article
• Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy  Academic Article
• Identification of the Binding Site of Brucella VirB8 Interaction Inhibitors  Academic Article
• Identification of the Catalytic Residues of AroA (Enolpyruvylshikimate 3-Phosphate Synthase) Using Partitioning Analysis  Academic Article
• Identification of the Mechanism Responsible for the Increased Fibrin Specificity of TNK-Tissue Plasminogen Activator Relative to Tissue Plasminogen Activator  Academic Article
• Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population  Academic Article
• Inscribing the Perimeter of the PagP Hydrocarbon Ruler by Site-Specific Chemical Alkylation  Academic Article
• Interspecies exchange mutagenesis of the first epidermal growth factor-like domain of human factor VII  Academic Article
• Investigating serpin–enzyme complex formation and stability via single and multiple residue reactive centre loop substitutions in heparin cofactor II  Academic Article
• Investigating the effect of a single glycine to alanine substitution on interactions of antimicrobial peptide latarcin 2a with a lipid membrane  Academic Article
• Investigating the effects of L- to D-amino acid substitution and deamidation on the activity and membrane interactions of antimicrobial peptide anoplin  Academic Article
• JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis  Academic Article
• Life-Threatening Thrombosis in Mice With Targeted Arg48-to-Cys Mutation of the Heparin-Binding Domain of Antithrombin  Academic Article
• Lyme Disease Enolpyruvyl-UDP-GlcNAc Synthase: Fosfomycin-Resistant MurA from Borrelia burgdorferi, a Fosfomycin-Sensitive Mutant, and the Catalytic Role of the Active Site Asp  Academic Article
• Mammalian Sperm Proteins Are Rapidly Evolving: Evidence of Positive Selection in Functionally Diverse Genes  Academic Article
• Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines  Academic Article
• 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
• Mapping the Substrate Recognition Landscapes of Metalloproteases Using Comprehensive Mutagenesis  Academic Article
• Modifying a covarying protein–DNA interaction changes substrate preference of a site-specific endonuclease  Academic Article
• Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency  Academic Article
• Molecular Mechanism of the Enterococcal Aminoglycoside 6‘-N-Acetyltransferase‘:  Role of GNAT-Conserved Residues in the Chemistry of Antibiotic Inactivation  Academic Article
• Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti  Academic Article
• Molecular genetic analysis of severe protein C deficiency.  Academic Article
• Multiple Mechanisms Promote the Retained Expression of Gene Duplicates in the Tetraploid Frog Xenopus laevis  Academic Article
• Mutation of Any Site of N-Linked Glycosylation Accelerates the In Vivo Clearance of Recombinant Rabbit Antithrombin  Academic Article
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Academic Article
• Mutations in the conserved carboxy-terminal hydrophobic region of glycoprotein gB affect infectivity of herpes simplex virus  Academic Article
• Mutations in transmembrane proteins: diseases, evolutionary insights, prediction and comparison with globular proteins  Academic Article
• NLS-dependent nuclear localization of p120ctnis necessary to relieve Kaiso-mediated transcriptional repression  Academic Article
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Academic Article
• Naked but Not Hairless: The Pitfalls of Analyses of Molecular Adaptation Based on Few Genome Sequence Comparisons  Academic Article
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Academic Article
• 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
• 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
• Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]  Academic Article
• PON1 Q192R genetic variant and response to clopidogrel and prasugrel: pharmacokinetics, pharmacodynamics, and a meta-analysis of clinical outcomes  Academic Article
• Pervasive Cryptic Epistasis in Molecular Evolution  Academic Article
• Population-based prevalence ofCDKN2A andCDK4 mutations in patients with multiple primary melanomas  Academic Article
• Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus  Academic Article
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Academic Article
• Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals  Academic Article
• Real-Time PCR Assay for Rapid Detection and Analysis of PfCRT Haplotypes of Chloroquine-Resistant Plasmodium falciparum Isolates from India  Academic Article
• RhoA Activation in Mesangial Cells by Mechanical Strain Depends on Caveolae and Caveolin-1 Interaction  Academic Article
• Role of the Glu Residues of the Influenza Hemagglutinin Fusion Peptide in the pH Dependence of Fusion Activity  Academic Article
• SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations  Academic Article
• Sampling the Antibiotic Resistome  Academic Article
• Serine-401 as a batrachotoxin- and local anesthetic-sensing residue in the human cardiac Na+ channel  Academic Article
• Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population  Academic Article
• Structural Insights into the Regulation of Foreign Genes in Salmonella by the Hha/H-NS Complex  Academic Article
• Structural requirements for the activation of human factor VIII by thrombin  Academic Article
• Structure and Function of APH(4)-Ia, a Hygromycin B Resistance Enzyme  Academic Article
• The Ancient Drug Salicylate Directly Activates AMP-Activated Protein Kinase  Academic Article
• The Cancer-associated K351N Mutation Affects the Ubiquitination and the Translocation to Mitochondria of p53 Protein  Academic Article
• The Genesis and Spread of Reassortment Human Influenza A/H3N2 Viruses Conferring Adamantane Resistance  Academic Article
• The Q121 Variant of ENPP1 May Protect From Childhood Overweight/obesity in the Italian Population  Academic Article
• The Role of Proline in the Membrane Re-entrant Helix of Caveolin-1  Academic Article
• 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
• The complete N-terminal extension of heparin cofactor II is required for maximal effectiveness as a thrombin exosite 1 ligand  Academic Article
• The ectodomain of HA2 of influenza virus promotes rapid ph dependent membrane fusion 1 1Edited by A. R. Fersht  Academic Article
• 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
• Type IV Pilus Alignment Subcomplex Proteins PilN and PilO Form Homo- and Heterodimers in Vivo  Academic Article
• Val66Met polymorphism and serum brain-derived neurotrophic factor in bipolar disorder: an open-label trial  Academic Article
• Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V  Academic Article
• Why Does the Inner-Helix Mutation A413C Double the Stoichiometry of Kv1.3 Channel Block by Emopamil but Not by Verapamil?  Academic Article
• XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediated telomere shortening  Academic Article