Amino Acid Substitution

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  Subject Areas on Research

  • A Chlamydia trachomatis strain with a chemically generated amino acid substitution (P370L) in the cthtrA gene shows reduced elementary body production. 
  • A Single Substitution in gp41 Modulates the Neutralization Profile of SHIV during In Vivo Adaptation. 
  • A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. 
  • A central role for beta-arrestins and clathrin-coated vesicle-mediated endocytosis in beta2-adrenergic receptor resensitization. Differential regulation of receptor resensitization in two distinct cell types. 
  • A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. 
  • A functional substitution in the L-aromatic amino acid decarboxylase enzyme worsens somatic symptoms via a serotonergic pathway. 
  • A gain-of-function polymorphism controlling complex traits and fitness in nature. 
  • A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 
  • A kinesin motor in a force-producing conformation. 
  • A mutant of the motor protein kinesin that moves in both directions on microtubules. 
  • A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. 
  • A negative charge in transmembrane segment 1 of domain II of the cockroach sodium channel is critical for channel gating and action of pyrethroid insecticides. 
  • A novel domain in Set2 mediates RNA polymerase II interaction and couples histone H3 K36 methylation with transcript elongation. 
  • A novel relaxase homologue is involved in chromosomal DNA processing for type IV secretion in Neisseria gonorrhoeae. 
  • A residue in the transmembrane segment 6 of domain I in insect and mammalian sodium channels regulate differential sensitivities to pyrethroid insecticides. 
  • A single amino acid difference in the host APOBEC3G protein controls the primate species specificity of HIV type 1 virion infectivity factor. 
  • A structural pathway for activation of the kinesin motor ATPase. 
  • A surface of Escherichia coli sigma 70 required for promoter function and antitermination by phage lambda Q protein. 
  • A unique type II topoisomerase mutant that is hypersensitive to a broad range of cleavage-inducing antitumor agents. 
  • APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases. 
  • ATM-dependent phosphorylation of Mdm2 on serine 395: role in p53 activation by DNA damage. 
  • Abl tyrosine kinase regulates endocytosis of the epidermal growth factor receptor. 
  • Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin. 
  • Accelerated decline in lung function in cigarette smokers is associated with TP53/HDM2 polymorphisms. 
  • Allelic and locus heterogeneity in inherited venous malformations. 
  • Altered light responses of single rod photoreceptors in transgenic pigs expressing P347L or P347S rhodopsin. 
  • Amino Acid Changes in the HIV-1 gp41 Membrane Proximal Region Control Virus Neutralization Sensitivity. 
  • Amino acid substitution at peptide-binding pockets of HLA class I molecules increases risk of severe acute GVHD and mortality. 
  • Amyloidogenic and anti-amyloidogenic properties of recombinant transthyretin variants. 
  • An active site tyrosine influences the ability of the dimethyl sulfoxide reductase family of molybdopterin enzymes to reduce S-oxides. 
  • An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 
  • Analysis of functional domains of angiotensin II type 2 receptor involved in apoptosis. 
  • Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. 
  • Analysis of partial pol and env sequences indicates a high prevalence of HIV type 1 recombinant strains circulating in Gabon. 
  • Analysis of the action of lidocaine on insect sodium channels. 
  • Analysis of the effect of natural sequence variation in Tat and in cyclin T on the formation and RNA binding properties of Tat-cyclin T complexes. 
  • Ankyrin-B metabolic syndrome combines age-dependent adiposity with pancreatic β cell insufficiency. 
  • Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay. 
  • Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 
  • Association of human aryl hydrocarbon receptor gene polymorphisms with risk of lung cancer among cigarette smokers in a Chinese population. 
  • Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. 
  • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. 
  • BDNF Val66Met genotype and 6-month remission rates in late-life depression. 
  • Beta2-adrenergic receptor gene polymorphisms as systemic determinants of healthy aging in an evolutionary context. 
  • Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF). 
  • Bipolar disorder, brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and brain morphology. 
  • Block of wild-type and inactivation-deficient cardiac sodium channels IFM/QQQ stably expressed in mammalian cells. 
  • Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance. 
  • Brain-derived neurotrophic factor val66met polymorphism and hippocampal activation during episodic encoding and retrieval tasks. 
  • Broad and potent neutralization of HIV-1 by a gp41-specific human antibody. 
  • CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. 
  • CD8+ T cell epitope-flanking mutations disrupt proteasomal processing of HIV-1 Nef. 
  • Ca2+-sensitive inactivation and facilitation of L-type Ca2+ channels both depend on specific amino acid residues in a consensus calmodulin-binding motif in the(alpha)1C subunit. 
  • Calcineurin orchestrates dimorphic transitions, antifungal drug responses and host-pathogen interactions of the pathogenic mucoralean fungus Mucor circinelloides. 
  • Cardioprotective role of S-nitrosylated hemoglobin from rbc. 
  • Catechol O-methyltransferase val158-met genotype and individual variation in the brain response to amphetamine. 
  • Characterization of the Adeno-Associated Virus 1 and 6 Sialic Acid Binding Site. 
  • Charged residues on the side of the nucleosome contribute to normal Spt16-gene interactions in budding yeast. 
  • Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. 
  • Clathrin-mediated endocytosis of the beta-adrenergic receptor is regulated by phosphorylation/dephosphorylation of beta-arrestin1. 
  • Clinical and environmental isolates of Cryptococcus gattii from Australia that retain sexual fecundity. 
  • Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. 
  • Comparative analysis of the genome sequences and replication profiles of chikungunya virus isolates within the East, Central and South African (ECSA) lineage. 
  • Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE. 
  • Complete genome sequencing and analysis of six enterovirus 71 strains with different clinical phenotypes. 
  • Confirmation of the involvement of protein domain movement during the catalytic cycle of the cytochrome bc1 complex by the formation of an intersubunit disulfide bond between cytochrome b and the iron-sulfur protein. 
  • Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus. 
  • Constitutively active alpha-1b adrenergic receptor mutants display different phosphorylation and internalization features. 
  • Control of Heterologous Simian Immunodeficiency Virus SIVsmE660 Infection by DNA and Protein Coimmunization Regimens Combined with Different Toll-Like-Receptor-4-Based Adjuvants in Macaques. 
  • Conversion of Tyr361 beta to Leu in mammalian protein farnesyltransferase impairs product release but not substrate recognition. 
  • Coordination of platinum therapeutic agents to met-rich motifs of human copper transport protein1. 
  • Coupling of proton binding in extracellular domain to channel gating in acid-sensing ion channel. 
  • Crystal structure of the human LRH-1 DBD-DNA complex reveals Ftz-F1 domain positioning is required for receptor activity. 
  • Cysteine 70 of ankyrin-G is S-palmitoylated and is required for function of ankyrin-G in membrane domain assembly. 
  • Cysteine-tailed class I-binding peptides bind to CpG adjuvant and enhance primary CTL responses. 
  • De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. 
  • Deciphering human immunodeficiency virus type 1 transmission and early envelope diversification by single-genome amplification and sequencing. 
  • Defining an antigenic epitope on platelet factor 4 associated with heparin-induced thrombocytopenia. 
  • Defining fibronectin's cell adhesion synergy site by site-directed mutagenesis. 
  • Definition of a consensus transportin-specific nucleocytoplasmic transport signal. 
  • Dependence of leucine-rich repeat kinase 2 (LRRK2) kinase activity on dimerization. 
  • Desensitization of the mouse thromboxane A2 receptor (TP) by G protein-coupled receptor kinases (Grks). 
  • Detection of a new pyrethroid resistance mutation (V410L) in the sodium channel of Aedes aegypti: a potential challenge for mosquito control. 
  • Development of potent B-RafV600E inhibitors containing an arylsulfonamide headgroup. 
  • Different structural changes occur in blue- and green-proteorhodopsins during the primary photoreaction. 
  • Disease-associated casein kinase I delta mutation may promote adenomatous polyps formation via a Wnt/beta-catenin independent mechanism. 
  • Dissecting the order of bacteriophage T4 DNA polymerase holoenzyme assembly. 
  • Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features. 
  • Distinct single amino acid replacements in the control of virulence regulator protein differentially impact streptococcal pathogenesis. 
  • Domains of the parathyroid hormone (PTH) receptor required for regulation by G protein-coupled receptor kinases (GRKs). 
  • Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. 
  • Dose Response of β-Blockers in Adrenergic Receptor Polymorphism Genotypes. 
  • Drug-associated changes in amino acid residues in Gag p2, p7(NC), and p6(Gag)/p6(Pol) in human immunodeficiency virus type 1 (HIV-1) display a dominant effect on replicative fitness and drug response. 
  • EGFR and EGFRvIII undergo stress- and EGFR kinase inhibitor-induced mitochondrial translocalization: a potential mechanism of EGFR-driven antagonism of apoptosis. 
  • Effect of natural mutations of SARS-CoV-2 on spike structure, conformation, and antigenicity. 
  • Endogenous oncogenic Nras mutation initiates hematopoietic malignancies in a dose- and cell type-dependent manner. 
  • Envelope residue 375 substitutions in simian-human immunodeficiency viruses enhance CD4 binding and replication in rhesus macaques. 
  • Evaluating The Role Of Nitric Oxide Synthase In Oncogenic Ras-Driven Tumorigenesis. 
  • Eventual AIDS vaccine failure in a rhesus monkey by viral escape from cytotoxic T lymphocytes. 
  • Evidence for Dual Binding Sites for 1,1,1-Trichloro-2,2-bis(p-chlorophenyl)ethane (DDT) in Insect Sodium Channels. 
  • Evidence of biologic epistasis between BDNF and SLC6A4 and implications for depression. 
  • Evidence of viral adaptation to HLA class I-restricted immune pressure in chronic hepatitis C virus infection. 
  • Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. 
  • FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). 
  • Facile chemical synthesis and equilibrium unfolding properties of CopG. 
  • Factor VIII Arg2304 --> His binds to phosphatidylserine and is a functional cofactor in the factor X-ase complex. 
  • Fast and faster: a designed variant of the B-domain of protein A folds in 3 microsec. 
  • Fibrinogen binding is affected by amino acid substitutions in C-terminal repeat region of fibronectin binding protein A. 
  • Fibroblast growth factor-23-mediated inhibition of renal phosphate transport in mice requires sodium-hydrogen exchanger regulatory factor-1 (NHERF-1) and synergizes with parathyroid hormone. 
  • Folding kinetics of a fluorescent variant of monomeric lambda repressor. 
  • Founder's Award, Society for Biomaterials. Sixth World Biomaterials Congress 2000, Kamuela, HI,May 15-20, 2000. Really smart bioconjugates of smart polymers and receptor proteins. 
  • FtsZ filament dynamics at steady state: subunit exchange with and without nucleotide hydrolysis. 
  • Functional analysis of Wingless reveals a link between intercellular ligand transport and dorsal-cell-specific signaling. 
  • Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations. 
  • Functional consequences of substitution mutations in MepR, a repressor of the Staphylococcus aureus MepA multidrug efflux pump gene. 
  • Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. 
  • Functional domain organization of human APOBEC3G. 
  • Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. 
  • Functional evolution of an anthocyanin pathway enzyme during a flower color transition. 
  • G alpha t/G alpha i1 chimeras used to define structural basis of specific functions of G alpha t. 
  • Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 
  • Gene expression levels influence amino acid usage and evolutionary rates in endosymbiotic bacteria. 
  • Genetic association between endothelial nitric oxide synthase and Alzheimer disease. 
  • Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. 
  • Genetic convergence of rare lymphomas. 
  • Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. 
  • Genetic polymorphisms: a cornerstone of translational biobehavioral research. 
  • Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis. 
  • Genome sequence of Blochmannia pennsylvanicus indicates parallel evolutionary trends among bacterial mutualists of insects. 
  • Genome wide analyses reveal little evidence for adaptive evolution in many plant species. 
  • Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank. 
  • Glucocorticoid-induced osteogenesis is negatively regulated by Runx2/Cbfa1 serine phosphorylation. 
  • Glutamate 350 Plays an Essential Role in Conformational Gating of Long-Range Radical Transport in Escherichia coli Class Ia Ribonucleotide Reductase. 
  • Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. 
  • HDAC6 modulates cell motility by altering the acetylation level of cortactin. 
  • HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 
  • Histone deacetylase 6 (HDAC6) promotes the pro-survival activity of 14-3-3ζ via deacetylation of lysines within the 14-3-3ζ binding pocket. 
  • How can a single second sphere amino acid substitution cause reduction midpoint potential changes of hundreds of millivolts? 
  • Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. 
  • Human immunodeficiency virus type 1 protease genotype predicts immune and viral responses to combination therapy with protease inhibitors (PIs) in PI-naive patients. 
  • Human immunodeficiency virus type 1 resistance to the small molecule maturation inhibitor 3-O-(3',3'-dimethylsuccinyl)-betulinic acid is conferred by a variety of single amino acid substitutions at the CA-SP1 cleavage site in Gag. 
  • Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 
  • Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. 
  • Identification and functional study of a mild allele of SlDELLA gene conferring the potential for improved yield in tomato. 
  • Identification of ENV determinants in V3 that influence the molecular anatomy of CCR5 utilization. 
  • Identification of a binding motif in the S5 helix that confers cholesterol sensitivity to the TRPV1 ion channel. 
  • Identification of a region at the N-terminus of phospholipase C-beta 3 that interacts with G protein beta gamma subunits. 
  • Identification of a structurally distinct CD101 molecule encoded in the 950-kb Idd10 region of NOD mice. 
  • Identification of amino acid residues in the insect sodium channel critical for pyrethroid binding. 
  • Identification of amino acid substitutions associated with neutralization phenotype in the human immunodeficiency virus type-1 subtype C gp120. 
  • Identification of inhibitory autophosphorylation sites in casein kinase I epsilon. 
  • Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels. 
  • Identification of two novel mutations in families with X-linked ocular albinism. 
  • Immunohistochemical evidence of seizure-induced activation of trkB receptors in the mossy fiber pathway of adult mouse hippocampus. 
  • Impact of Sulfadoxine-Pyrimethamine Resistance on Effectiveness of Intermittent Preventive Therapy for Malaria in Pregnancy at Clearing Infections and Preventing Low Birth Weight. 
  • Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 
  • Implications for proteasome nuclear localization revealed by the structure of the nuclear proteasome tether protein Cut8. 
  • Importance of a surface hydrophobic pocket on protein phosphatase-1 catalytic subunit in recognizing cellular regulators. 
  • Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy. 
  • Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 
  • Inhibiting the palmitoylation/depalmitoylation cycle selectively reduces the growth of hematopoietic cells expressing oncogenic Nras. 
  • Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma. 
  • Inhibition of pyruvate kinase M2 by reactive oxygen species contributes to cellular antioxidant responses. 
  • Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. 
  • Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. 
  • Investigation of the role of electrostatic charge in activation of the Escherichia coli response regulator CheY. 
  • Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. 
  • Kinetic role of helix caps in protein folding is context-dependent. 
  • Kinetic studies of protein farnesyltransferase mutants establish active substrate conformation. 
  • LAT palmitoylation: its essential role in membrane microdomain targeting and tyrosine phosphorylation during T cell activation. 
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 
  • Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. 
  • Lefty proteins exhibit unique processing and activate the MAPK pathway. 
  • Ligand concentration regulates the pathways of coupled protein folding and binding. 
  • Ligand-specific selection of MHC class II-restricted thymocytes in fetal thymic organ culture. 
  • Localization and structure of the ankyrin-binding site on beta2-spectrin. 
  • Long antibody HCDR3s from HIV-naïve donors presented on a PG9 neutralizing antibody background mediate HIV neutralization. 
  • Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. 
  • Manganese superoxide dismutase Ala-9Val polymorphism and risk of breast cancer in a population-based case-control study of African Americans and whites. 
  • Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes. 
  • Microsecond folding dynamics of the F13W G29A mutant of the B domain of staphylococcal protein A by laser-induced temperature jump. 
  • Minimal determinants for binding activated G alpha from the structure of a G alpha(i1)-peptide dimer. 
  • Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 
  • Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans. 
  • Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. 
  • Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 
  • Molecular basis of a novel adaptation to hypoxic-hypercapnia in a strictly fossorial mole. 
  • Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti. 
  • Molecular structure and function of the novel BrnT/BrnA toxin-antitoxin system of Brucella abortus. 
  • Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP. 
  • Multiple Surface Regions on the Niemann-Pick C2 Protein Facilitate Intracellular Cholesterol Transport. 
  • Mutant IDH is sufficient to initiate enchondromatosis in mice. 
  • Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 
  • Mutation of conserved histidines alters tertiary structure and nanomechanics of consensus ankyrin repeats. 
  • Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 
  • Mutational analysis of Gbetagamma and phospholipid interaction with G protein-coupled receptor kinase 2. 
  • Mutational analysis of active site residues in the Staphylococcus aureus transpeptidase SrtA. 
  • Mutational analysis of the fractalkine chemokine domain. Basic amino acid residues differentially contribute to CX3CR1 binding, signaling, and cell adhesion. 
  • Mutations in PBP2 from ceftriaxone-resistant Neisseria gonorrhoeae alter the dynamics of the β3-β4 loop to favor a low-affinity drug-binding state. 
  • Mutations of the serine phosphorylated in the protein phosphatase-1-binding motif in the skeletal muscle glycogen-targeting subunit. 
  • N-terminal tyrosine modulation of the endocytic adaptor function of the beta-arrestins. 
  • Neurocognitive correlates of the COMT Val(158)Met polymorphism in chronic schizophrenia. 
  • Neutral evolution of the nonbinding region of the anthocyanin regulatory gene Ipmyb1 in Ipomoea. 
  • Neutralization-guided design of HIV-1 envelope trimers with high affinity for the unmutated common ancestor of CH235 lineage CD4bs broadly neutralizing antibodies. 
  • No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. 
  • Non-lethal congenital hypotonia due to glycogen storage disease type IV. 
  • Nonfunctional Missense Mutants in Two Well Characterized Cytosolic Enzymes Reveal Important Information About Protein Structure and Function. 
  • Novel human alpha1a-adrenoceptor single nucleotide polymorphisms alter receptor pharmacology and biological function. 
  • Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation. 
  • Orientation of LamB signal peptides in bilayers: influence of lipid probes on peptide binding and interpretation of fluorescence quenching data. 
  • Phosphorylation and nuclear translocation of a regulator of G protein signaling (RGS10). 
  • Phosphorylation of DHBV pre-S: identification of the major site of phosphorylation and effects of mutations on the virus life cycle. 
  • Phosphorylation of c-Abl by protein kinase Pak2 regulates differential binding of ABI2 and CRK. 
  • Platelet-derived growth factor (PDGF) regulates Slingshot phosphatase activity via Nox1-dependent auto-dephosphorylation of serine 834 in vascular smooth muscle cells. 
  • Point mutations alter the mechanical stability of immunoglobulin modules. 
  • Polymorphic TP53BP1 and TP53 gene interactions associated with risk of squamous cell carcinoma of the head and neck. 
  • Polymorphisms in fibronectin binding protein A of Staphylococcus aureus are associated with infection of cardiovascular devices. 
  • Positive and negative phosphorylation regulates RIP1- and RIP3-induced programmed necrosis. 
  • Pparg-P465L mutation worsens hyperglycemia in Ins2-Akita female mice via adipose-specific insulin resistance and storage dysfunction. 
  • Predictable patterns of constraint among anthocyanin-regulating transcription factors in Ipomoea. 
  • Predominantly buried residues in the response regulator Spo0F influence specific sensor kinase recognition. 
  • Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. 
  • Primary infection by a human immunodeficiency virus with atypical coreceptor tropism. 
  • Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1. 
  • Probing the architecture of the B. subtilis RNase P holoenzyme active site by cross-linking and affinity cleavage. 
  • Prolonged exposure of the HIV-1 gp41 membrane proximal region with L669S substitution. 
  • Protection against lipoapoptosis of beta cells through leptin-dependent maintenance of Bcl-2 expression. 
  • Protein dynamic studies move to a new time slot. 
  • Quaternary epitope specificities of anti-HIV-1 neutralizing antibodies generated in rhesus macaques infected by the simian/human immunodeficiency virus SHIVSF162P4. 
  • RAS signaling promotes resistance to JAK inhibitors by suppressing BAD-mediated apoptosis. 
  • Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. 
  • Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 
  • Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers. 
  • Recurrent signature patterns in HIV-1 B clade envelope glycoproteins associated with either early or chronic infections. 
  • Reinterpretation of GCN4-p1 folding kinetics: partial helix formation precedes dimerization in coiled coil folding. 
  • Relaxed constraint and evolutionary rate variation between basic helix-loop-helix floral anthocyanin regulators in Ipomoea. 
  • Removal of a single N-linked glycan in human immunodeficiency virus type 1 gp120 results in an enhanced ability to induce neutralizing antibody responses. 
  • Requirement of the Src homology 2 domain protein Shb for T cell receptor-dependent activation of the interleukin-2 gene nuclear factor for activation of T cells element in Jurkat T cells. 
  • Residues of heat-labile enterotoxin involved in bacterial cell surface binding. 
  • Resistance mutations at the lipid substrate binding site of Plasmodium falciparum protein farnesyltransferase. 
  • Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. 
  • Retinal rod photoreceptor-specific gene mutation perturbs cone pathway development. 
  • Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. 
  • RhoA GTPase-induced ocular hypertension in a rodent model is associated with increased fibrogenic activity in the trabecular meshwork. 
  • Ribosomal RACK1:Protein Kinase C βII Modulates Intramolecular Interactions between Unstructured Regions of Eukaryotic Initiation Factor 4G (eIF4G) That Control eIF4E and eIF3 Binding. 
  • Ribosomal RACK1:Protein Kinase C βII Phosphorylates Eukaryotic Initiation Factor 4G1 at S1093 To Modulate Cap-Dependent and -Independent Translation Initiation. 
  • Risk factors for breast cancer characterized by the estrogen receptor alpha A908G (K303R) mutation. 
  • Role of Cryptococcus neoformans Rho1 GTPases in the PKC1 signaling pathway in response to thermal stress. 
  • Role of GSK3 beta in behavioral abnormalities induced by serotonin deficiency. 
  • Role of beta-arrestins in the intracellular trafficking of G-protein-coupled receptors. 
  • Role of conserved tyrosine 343 in intramolecular electron transfer in human sulfite oxidase. 
  • Role of the Srs2-Rad51 Interaction Domain in Crossover Control in Saccharomyces cerevisiae. 
  • Role of the gamma-carboxyglutamic acid domain of activated factor X in the presence of calcium during inhibition by antithrombin-heparin. 
  • Selection of novel affinity-matured human chondroitin sulfate proteoglycan 4 antibody fragments by yeast display. 
  • Single amino acid changes can influence titer, heparin binding, and tissue tropism in different adeno-associated virus serotypes. 
  • Single amino acid modification of adeno-associated virus capsid changes transduction and humoral immune profiles. 
  • Site-specific phosphorylation and point mutations of telokin modulate its Ca2+-desensitizing effect in smooth muscle. 
  • Site-specific polyubiquitination differentially regulates parathyroid hormone receptor-initiated MAPK signaling and cell proliferation. 
  • Sorting nexin homologues are targets of phosphatidylinositol 3-phosphate in sporulation of Schizosaccharomyces pombe. 
  • Specific binding of RGS9-Gbeta 5L to protein anchor in photoreceptor membranes greatly enhances its catalytic activity. 
  • Spontaneous Differentiation of T Follicular Helper Cells in LATY136F Mutant Mice. 
  • Structural basis for μ-opioid receptor binding and activation. 
  • Structural changes in the photoactive site of proteorhodopsin during the primary photoreaction. 
  • Structural studies and protein engineering of inositol phosphate multikinase. 
  • Structure and function of the glycosaminoglycan binding site of chemokine macrophage-inflammatory protein-1 beta. 
  • Structures of BmrR-drug complexes reveal a rigid multidrug binding pocket and transcription activation through tyrosine expulsion. 
  • Study in vitro and in vivo of nociceptin/orphanin FQ(1-13)NH2 analogues substituting N-Me-Gly for Gly2 or Gly3. 
  • Substitutions in the domain III voltage-sensing module enhance the sensitivity of an insect sodium channel to a scorpion beta-toxin. 
  • Suppression of DNA-damage checkpoint signaling by Rsk-mediated phosphorylation of Mre11. 
  • Synthesis and evaluation of radiolabeled AGI-5198 analogues as candidate radiotracers for imaging mutant IDH1 expression in tumors. 
  • Systemic interleukin-2 and adoptive transfer of lymphokine-activated killer cells improves antibody-dependent cellular cytotoxicity in patients with relapsed B-cell lymphoma treated with rituximab. 
  • T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 
  • TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. 
  • TRPV channel-mediated calcium transients in nociceptor neurons are dispensable for avoidance behaviour. 
  • TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. 
  • The Expression of Functional Vpx during Pathogenic SIVmac Infections of Rhesus Macaques Suppresses SAMHD1 in CD4+ Memory T Cells. 
  • The G185R mutation disrupts function of the iron transporter Nramp2. 
  • The HOXB13 variant X285K is associated with clinical significance and early age at diagnosis in African American prostate cancer patients. 
  • The RGD motif in fibronectin is essential for development but dispensable for fibril assembly. 
  • The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction. 
  • The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. 
  • The backbone structure of the thermophilic Thermoanaerobacter tengcongensis ribose binding protein is essentially identical to its mesophilic E. coli homolog. 
  • The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency. 
  • The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depression. 
  • The crystal structure of Escherichia coli MoeA and its relationship to the multifunctional protein gephyrin. 
  • The deubiquitinase ubiquitin-specific protease 20 is a positive modulator of myocardial β1-adrenergic receptor expression and signaling. 
  • The endothelial protein C receptor (PROCR) Ser219Gly variant and risk of common thrombotic disorders: a HuGE review and meta-analysis of evidence from observational studies. 
  • The estrogen receptor-alpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study. 
  • The extra fragment of the iron-sulfur protein (residues 96-107) of Rhodobacter sphaeroides cytochrome bc1 complex is required for protein stability. 
  • The intrinsic antiretroviral factor APOBEC3B contains two enzymatically active cytidine deaminase domains. 
  • The monomeric receptor binding domain of tetrameric α2-macroglobulin binds to cell surface GRP78 triggering equivalent activation of signaling cascades. 
  • The nucleolar localization domain of the catalytic subunit of human telomerase. 
  • The phage T4 protein UvsW drives Holliday junction branch migration. 
  • The structure of PurR mutant L54M shows an alternative route to DNA kinking. 
  • The sustainability of interactions between the orexin-1 receptor and beta-arrestin-2 is defined by a single C-terminal cluster of hydroxy amino acids and modulates the kinetics of ERK MAPK regulation. 
  • Topology of mammalian isoprenylcysteine carboxyl methyltransferase determined in live cells with a fluorescent probe. 
  • Total chemical synthesis and biophysical characterization of the minimal isoform of the KChIP2 potassium channel regulatory subunit. 
  • Transglutaminase 2 protects against ischemic insult, interacts with HIF1beta, and attenuates HIF1 signaling. 
  • Tuning magnesium sensitivity of BK channels by mutations. 
  • Two amino acid residues determine 2-APB sensitivity of the ion channels TRPV3 and TRPV4. 
  • Two-state displacement by the kinesin-14 Ncd stalk. 
  • Tyrosine phosphorylation is required for functional activation of disulfide-containing constitutively active STAT mutants. 
  • Ultrastructure and function of dimeric, soluble intercellular adhesion molecule-1 (ICAM-1). 
  • Using viral species specificity to define a critical protein/RNA interaction surface. 
  • VSV transmembrane domain (TMD) peptide promotes PEG-mediated fusion of liposomes in a conformationally sensitive fashion. 
  • Vaccine induction of antibodies against a structurally heterogeneous site of immune pressure within HIV-1 envelope protein variable regions 1 and 2. 
  • Vasopressin-stimulated increase in phosphorylation at Ser269 potentiates plasma membrane retention of aquaporin-2. 
  • WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. 
  • d-Amino Acid Peptide Residualizing Agents for Protein Radioiodination: Effect of Aspartate for Glutamate Substitution. 
  • epitopes immediately below the base of the V3 loop of gp120 as targets for the initial autologous neutralizing antibody response in two HIV-1 subtype B-infected individuals. 
  • p53-dependent induction of heat shock protein 27 (HSP27) expression. 
  • p73 G4C14-to-A4T14 gene polymorphism and interaction with p53 exon 4 Arg72Pro on cancer susceptibility: a meta-analysis of the literature. 
  • μ-Opioid receptor gene A118G polymorphism predicts survival in patients with breast cancer. 
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  Keywords of People

  • Bennett, Vann, George Barth Geller Distinguished Professor of Molecular Biology, Duke Cancer Institute
  • Erickson, Harold Paul, Professor Emeritus of Cell Biology, Cell Biology
  • Ferrari, Guido, Professor in Surgery, Molecular Genetics and Microbiology
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Moorman, Patricia Gripka, Professor Emeritus in Family Medicine and Community Health, Duke Cancer Institute
  • Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology
  • Starmer, Charles Franklin, Professor Emeritus of Computer Science, Computer Science