Amino Acid Substitution Concept

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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  Journal Articles
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Journal Articles
• A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation  Journal Articles
• A Single Amino Acid Change in the Response Regulator PhoP, Acquired during Yersinia pestis Evolution, Affects PhoP Target Gene Transcription and Polymyxin B Susceptibility  Journal Articles
• A 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  Journal Articles
• A Systematic Review and Meta-Analysis of the Diagnostic Performance of BRAF V600E Immunohistochemistry in Thyroid Histopathology  Journal Articles
• A covalently linked recombinant albumin dimer is more rapidly cleared in vivo than are wild-type and mutant C34A albumin  Journal Articles
• A four-column theory for the origin of the genetic code: tracing the evolutionary pathways that gave rise to an optimized code  Journal Articles
• A novel candidate region for ALS on chromosome 14q11.2  Journal Articles
• A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy  Journal Articles
• A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer.  Journal Articles
• Accelerated Evolutionary Rate of Housekeeping Genes in Tunicates  Journal Articles
• Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms  Journal Articles
• Accuracy of p53 Codon 72 Polymorphism Status Determined by Multiple Laboratory Methods: A Latent Class Model Analysis  Journal Articles
• Allosteric Site Variants of Haemophilus influenzae β-Carbonic Anhydrase  Journal Articles
• Alpha-1 proteinase inhibitor M358R reduces thrombin generation when displayed on the surface of cells expressing tissue factor  Journal Articles
• Arginine Methylation Regulates Telomere Length and Stability  Journal Articles
• Assay of HIV gp41 amino acid sequence to identify baseline variation and mutation development in patients with virologic failure on enfuvirtide☆  Journal Articles
• Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS  Journal Articles
• Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases  Journal Articles
• Brain-derived neurotrophic factor val66met polymorphism affects prefrontal energy metabolism in bipolar disorder  Journal Articles
• Brain-derived neurotrophic factor variants are associated with childhood-onset mood disorder: confirmation in a Hungarian sample  Journal Articles
• Bursts of nonsynonymous substitutions in HIV-1 evolution reveal instances of positive selection at conservative protein sites  Journal Articles
• Catechol-O-Methyltransferase (COMT) Val 108/158 Metpolymorphism does not modulate executive function in children with ADHD  Journal Articles
• Characterization of mice harboring a variant of EPCR with impaired ability to bind protein C: novel role of EPCR in hematopoiesis  Journal Articles
• Clonal Expansion and Emergence of Environmental Multiple-Triazole-Resistant Aspergillus fumigatus Strains Carrying the TR34/L98H Mutations in the cyp51A Gene in India  Journal Articles
• Comparison of mammalian and bacterial expression library screening to detect recombinant alpha-1 proteinase inhibitor variants with enhanced thrombin inhibitory capacity☆  Journal Articles
• Complete genome sequence of a raccoon rabies virus isolate  Journal Articles
• Computational Study of the Binding Modes of Caffeine to the Adenosine A_2AReceptor  Journal Articles
• Congenital myasthenic syndrome–associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner  Journal Articles
• Deep mutational scanning of the plasminogen activator inhibitor-1 functional landscape  Journal Articles
• Definition of a Consensus Transportin-specific Nucleocytoplasmic Transport Signal  Journal Articles
• Directionality in the evolution of influenza A haemagglutinin  Journal Articles
• Diverse biophysical mechanisms in voltage‐gated sodium channel Na_v1.4 variants associated with myotonia  Journal Articles
• Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene?  Journal Articles
• Dynamics of the Fragment of Thrombomodulin Containing the Fourth and Fifth Epidermal Growth Factor-like Domains Correlate with Function  Journal Articles
• Effects of high‐intensity endurance exercise training in the G93A mouse model of amyotrophic lateral sclerosis  Journal Articles
• Eliminating Competition: Characterizing and Eliminating Competitive Binding at Separate Sites between DAHP Synthase’s Essential Metal Ion and the Inhibitor DAHP Oxime  Journal Articles
• Estrogen Receptor-α and Endothelial Nitric Oxide Synthase Nuclear Complex Regulates Transcription of Human Telomerase  Journal Articles
• Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes  Journal Articles
• Evidence for Dual Binding Sites for 1,1,1-Trichloro-2,2-bis(p-chlorophenyl)ethane (DDT) in Insect Sodium Channels  Journal Articles
• Fluoroquinolone Resistance in Clinical Isolates of Streptococcus pneumoniae : Contributions of Type II Topoisomerase Mutations and Efflux to Levels of Resistance  Journal Articles
• Free energy landscape remodeling of the cardiac pacemaker channel explains the molecular basis of familial sinus bradycardia  Journal Articles
• 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  Journal Articles
• Functional Analysis of Disulfide Linkages Clustered within the Amino Terminus of Human Apolipoprotein B  Journal Articles
• Gauging a Hydrocarbon Ruler by an Intrinsic Exciton Probe  Journal Articles
• Gene symbol: ARSA.  Journal Articles
• Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia  Journal Articles
• Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background  Journal Articles
• Hemoglobin shady grove: A novel fetal methemoglobin variant  Journal Articles
• Heparin cofactor II is more sensitive than antithrombin to secretory impairment arising from mutations introduced into its carboxy-terminal region  Journal Articles
• How Batrachotoxin Modifies the Sodium Channel Permeation Pathway: Computer Modeling and Site-Directed Mutagenesis  Journal Articles
• IMPACT OF MUTATIONS AT THE P4 AND P5 POSITIONS ON THE REACTION OF ANTITHROMBIN WITH THROMBIN AND ELASTASE  Journal Articles
• Identification of Cadherin 2 ( CDH2 ) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy  Journal Articles
• Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy  Journal Articles
• Identification of the Binding Site of Brucella VirB8 Interaction Inhibitors  Journal Articles
• Identification of the Catalytic Residues of AroA (Enolpyruvylshikimate 3-Phosphate Synthase) Using Partitioning Analysis  Journal Articles
• Identification of the Mechanism Responsible for the Increased Fibrin Specificity of TNK-Tissue Plasminogen Activator Relative to Tissue Plasminogen Activator  Journal Articles
• Inscribing the Perimeter of the PagP Hydrocarbon Ruler by Site-Specific Chemical Alkylation  Journal Articles
• Investigating serpin–enzyme complex formation and stability via single and multiple residue reactive centre loop substitutions in heparin cofactor II  Journal Articles
• Investigating the effect of a single glycine to alanine substitution on interactions of antimicrobial peptide latarcin 2a with a lipid membrane  Journal Articles
• Investigating the effects of L- to D-amino acid substitution and deamidation on the activity and membrane interactions of antimicrobial peptide anoplin  Journal Articles
• JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis  Journal Articles
• Life-Threatening Thrombosis in Mice With Targeted Arg48-to-Cys Mutation of the Heparin-Binding Domain of Antithrombin  Journal Articles
• Lyme Disease Enolpyruvyl-UDP-GlcNAc Synthase: Fosfomycin-Resistant MurA from Borrelia burgdorferi, a Fosfomycin-Sensitive Mutant, and the Catalytic Role of the Active Site Asp  Journal Articles
• Mammalian Sperm Proteins Are Rapidly Evolving: Evidence of Positive Selection in Functionally Diverse Genes  Journal Articles
• Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines  Journal Articles
• Mapping the Free Energy Landscape of PKA Inhibition and Activation: A Double-Conformational Selection Model for the Tandem cAMP-Binding Domains of PKA RIα  Journal Articles
• Mapping the Substrate Recognition Landscapes of Metalloproteases Using Comprehensive Mutagenesis  Journal Articles
• Molecular Mechanism of the Enterococcal Aminoglycoside 6‘-N-Acetyltransferase‘:  Role of GNAT-Conserved Residues in the Chemistry of Antibiotic Inactivation  Journal Articles
• Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti  Journal Articles
• Molecular genetic analysis of severe protein C deficiency.  Journal Articles
• Multiple Mechanisms Promote the Retained Expression of Gene Duplicates in the Tetraploid Frog Xenopus laevis  Journal Articles
• Mutation of Any Site of N-Linked Glycosylation Accelerates the In Vivo Clearance of Recombinant Rabbit Antithrombin  Journal Articles
• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism  Journal Articles
• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes  Journal Articles
• Mutations in transmembrane proteins: diseases, evolutionary insights, prediction and comparison with globular proteins  Journal Articles
• NLS-dependent nuclear localization of p120ctnis necessary to relieve Kaiso-mediated transcriptional repression  Journal Articles
• NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]  Journal Articles
• Naked but Not Hairless: The Pitfalls of Analyses of Molecular Adaptation Based on Few Genome Sequence Comparisons  Journal Articles
• Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder  Journal Articles
• New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A₂-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]  Journal Articles
• Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]  Journal Articles
• Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]  Journal Articles
• PON1 Q192R genetic variant and response to clopidogrel and prasugrel: pharmacokinetics, pharmacodynamics, and a meta-analysis of clinical outcomes  Journal Articles
• Pervasive Cryptic Epistasis in Molecular Evolution  Journal Articles
• Prenatal sonographic diagnosis of hypochondroplasia in a high‐risk fetus  Journal Articles
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Journal Articles
• Real-Time PCR Assay for Rapid Detection and Analysis of PfCRT Haplotypes of Chloroquine-Resistant Plasmodium falciparum Isolates from India  Journal Articles
• Real-Time RT-PCR Allelic Discrimination Assay for Detection of N501Y Mutation in the Spike Protein of SARS-CoV-2 Associated with B.1.1.7 Variant of Concern  Journal Articles
• RhoA Activation in Mesangial Cells by Mechanical Strain Depends on Caveolae and Caveolin-1 Interaction  Journal Articles
• SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations  Journal Articles
• Sampling the Antibiotic Resistome  Journal Articles
• Serine-401 as a batrachotoxin- and local anesthetic-sensing residue in the human cardiac Na+ channel  Journal Articles
• Structural Insights into the Regulation of Foreign Genes in Salmonella by the Hha/H-NS Complex  Journal Articles
• Structure and Function of APH(4)-Ia, a Hygromycin B Resistance Enzyme  Journal Articles
• Substitution of reactive centre loop residues from C1 esterase inhibitor increases the inhibitory specificity of alpha-1 antitrypsin for plasma kallikrein.  Journal Articles
• The Ancient Drug Salicylate Directly Activates AMP-Activated Protein Kinase  Journal Articles
• The Cancer-associated K351N Mutation Affects the Ubiquitination and the Translocation to Mitochondria of p53 Protein  Journal Articles
• The Genesis and Spread of Reassortment Human Influenza A/H3N2 Viruses Conferring Adamantane Resistance  Journal Articles
• 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  Journal Articles
• The complete N-terminal extension of heparin cofactor II is required for maximal effectiveness as a thrombin exosite 1 ligand  Journal Articles
• 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  Journal Articles
• Tryptophan hydroxylase polymorphisms in suicide victims  Journal Articles
• Type IV Pilus Alignment Subcomplex Proteins PilN and PilO Form Homo- and Heterodimers in Vivo  Journal Articles
• Val66Met polymorphism and serum brain‐derived neurotrophic factor in bipolar disorder: an open‐label trial  Journal Articles
• Variability of clinical manifestation of factor VII-deficiency in homozygous and heterozygous subjects of the European F7 gene mutation A294V  Journal Articles
• Why Does the Inner-Helix Mutation A413C Double the Stoichiometry of Kv1.3 Channel Block by Emopamil but Not by Verapamil?  Journal Articles
• XPF with mutations in its conserved nuclease domain is defective in DNA repair but functions in TRF2-mediated telomere shortening  Journal Articles