Point Mutation

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  Subject Areas on Research

  • A Knock-In Tristetraprolin (TTP) Zinc Finger Point Mutation in Mice: Comparison with Complete TTP Deficiency. 
  • A SIMPLE Pipeline for Mapping Point Mutations. 
  • A dimerized coiled-coil domain and an adjoining part of geminin interact with two sites on Cdt1 for replication inhibition. 
  • A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency. 
  • A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype. 
  • A novel mutation in the von Hippel-Lindau gene. 
  • A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 
  • A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa. 
  • A novel role for XIAP in copper homeostasis through regulation of MURR1. 
  • A pathologic study of degeneration of the rod and cone populations of the rhodopsin Pro347Leu transgenic pigs. 
  • A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 
  • A point mutation (D79N) of the alpha2A adrenergic receptor abolishes the antiepileptogenic action of endogenous norepinephrine. 
  • A point mutation in the microtubule binding region of the Ncd motor protein reduces motor velocity. 
  • A single amino acid change in the cytoplasmic domain of the simian immunodeficiency virus transmembrane molecule increases envelope glycoprotein expression on infected cells. 
  • A single base substitution in the variable pocket of yeast tRNA(Arg) eliminates species-specific aminoacylation. 
  • A sodium channel mutation identified in Aedes aegypti selectively reduces cockroach sodium channel sensitivity to type I, but not type II pyrethroids. 
  • A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). 
  • A strong effect of AT mutational bias on amino acid usage in Buchnera is mitigated at high-expression genes. 
  • A unique type II topoisomerase mutant that is hypersensitive to a broad range of cleavage-inducing antitumor agents. 
  • A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy. 
  • A voltage-gated calcium-selective channel encoded by a sodium channel-like gene. 
  • AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome. 
  • Activation of four enzymes by two series of calmodulin mutants with point mutations in individual Ca2+ binding sites. 
  • Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene. 
  • Adenosine deaminase deficiency in adults. 
  • Allosteric effects of external K+ ions mediated by the aspartate of the GYGD signature sequence in the Kv2.1 K+ channel. 
  • Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. 
  • Altered nucleotide-microtubule coupling and increased mechanical output by a kinesin mutant. 
  • Alzheimer's disease and apolipoprotein E-4 allele in an Amish population. 
  • Androgen receptor mutations in patients with castration-resistant prostate cancer treated with apalutamide. 
  • Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene. 
  • Antigen drives very low affinity B cells to become plasmacytes and enter germinal centers. 
  • Arterial vascular occlusion associated with factor V Leiden gene mutation. 
  • Atomic distance estimates from disulfides and high-affinity metal-binding sites in a K+ channel pore. 
  • BCR-ABL-induced oncogenesis is mediated by direct interaction with the SH2 domain of the GRB-2 adaptor protein. 
  • BDNF Val66Met genotype and 6-month remission rates in late-life depression. 
  • BRCA1 expression is induced before DNA synthesis in both normal and tumor-derived breast cells. 
  • Beta-arrestin-dependent formation of beta2 adrenergic receptor-Src protein kinase complexes. 
  • Both BRAF V600E mutation and older age (≥ 65 years) are associated with recurrent papillary thyroid cancer. 
  • BtubA-BtubB heterodimer is an essential intermediate in protofilament assembly. 
  • CDKN2 in HPV-positive and HPV-negative cervical-carcinoma cell lines. 
  • Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). 
  • Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. 
  • Characteristic features of granular deposit formation in granular corneal dystrophy type 2. 
  • Characterization of a novel prothrombin variant, Prothrombin C20209T, as a modifier of thrombotic risk among African-Americans. 
  • Characterization of the human Snrpn minimal promoter and cis elements within it. 
  • Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets. 
  • Constitutive activation of the N-methyl-D-aspartate receptor via cleft-spanning disulfide bonds. 
  • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. 
  • Creation of an active estrogen-responsive element by a single base change in the flanking sequence of a cellular oncogene: a possible mechanism for hormonal carcinogenesis? 
  • Cryptococcus neoformans Cda1 and Its Chitin Deacetylase Activity Are Required for Fungal Pathogenesis. 
  • Crystal structure of the lactose operon repressor and its complexes with DNA and inducer. 
  • Crystallization and preliminary X-ray crystallographic investigations on several thermostable forms of a Bacillus subtilis lipase. 
  • DNA repair and epidemiology of basal cell carcinoma. 
  • DNA repair gene XRCC3 241Met variant is not associated with risk of cutaneous malignant melanoma. 
  • Decreased tumorigenesis in mice with a Kras point mutation at C118. 
  • Defining an antigenic epitope on platelet factor 4 associated with heparin-induced thrombocytopenia. 
  • Deletion and site-directed mutagenesis of the ATP-binding motif (P-loop) in the bifunctional murine ATP-sulfurylase/adenosine 5'-phosphosulfate kinase enzyme. 
  • Deletions and point mutations of p16,p15 gene in primary tumors and tumor cell lines. 
  • Detection of H-ras mutations in urine sediments by a mutant-enriched PCR technique. 
  • Detection of the JAK2 V617F mutation by LightCycler PCR and probe dissociation analysis. 
  • Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants. 
  • Directionality of temperature activation in mouse TRPA1 ion channel can be inverted by single-point mutations in ankyrin repeat six. 
  • Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. 
  • Distribution and abundance of microsatellites in the yeast genome can Be explained by a balance between slippage events and point mutations. 
  • Divergent phenotypes in Gaucher disease implicate the role of modifiers. 
  • Dominant-negative mutants of Grb2 induced reversal of the transformed phenotypes caused by the point mutation-activated rat HER-2/Neu. 
  • Drosophila as a model for the identification of genes causing adult human heart disease. 
  • Dual Ser and Thr phosphorylation of CPI-17, an inhibitor of myosin phosphatase, by MYPT-associated kinase. 
  • Dynamics of microsatellite divergence under stepwise mutation and proportional slippage/point mutation models. 
  • Dynamin and beta-arrestin reveal distinct mechanisms for G protein-coupled receptor internalization. 
  • ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit. 
  • Effect of a dominant negative ras on myocardial hypertrophy by using adenoviral-mediated gene transfer. 
  • Effect of isopropyl-beta-D-thiogalactopyranosid induction of the lac operon on the specificity of spontaneous and doxorubicin-induced mutations in Escherichia coli. 
  • Emergence of anxiety-like behaviours in depressive-like Cpe(fat/fat) mice. 
  • Emergence of resistance to clarithromycin during treatment of disseminated cutaneous Mycobacterium chelonae infection: case report and literature review. 
  • Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations. 
  • Etiology of the mutational spectrum of ras genes in human carcinomas. 
  • Expression of penicillin G acylase from the cloned pac gene of Escherichia coli ATCC11105. Effects of pacR and temperature. 
  • FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations. 
  • FKBP12-rapamycin target TOR2 is a vacuolar protein with an associated phosphatidylinositol-4 kinase activity. 
  • Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. 
  • Fine epitope signature of antibody neutralization breadth at the HIV-1 envelope CD4-binding site. 
  • Frequent detection of codon 877 mutation in the androgen receptor gene in advanced prostate cancers. 
  • Functional Toll-like receptor 4 mutations modulate the response to fibrinogen. 
  • Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations. 
  • Functional and prognostic relevance of the -173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis. 
  • Gene copy-number variation in haploid and diploid strains of the yeast Saccharomyces cerevisiae. 
  • Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis. 
  • Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. 
  • Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. 
  • Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism. 
  • Genetic, biochemical, and structural studies of biogenesis of adhesive pili in bacteria. 
  • Genome-wide analysis of genomic alterations induced by oxidative DNA damage in yeast. 
  • Genome-wide high resolution DNA profiling of hairy cell leukaemia. 
  • Genomic deletions and point mutations induced in Saccharomyces cerevisiae by the trinucleotide repeats (GAA·TTC) associated with Friedreich's ataxia. 
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 
  • Genotypic analysis of tumor suppressor genes PTEN/MMAC1 and p53 in head and neck squamous cell carcinomas. 
  • Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. 
  • Global analysis of genomic instability caused by DNA replication stress in Saccharomyces cerevisiae. 
  • Glucocorticoid-induced osteogenesis is negatively regulated by Runx2/Cbfa1 serine phosphorylation. 
  • Glutamate receptor desensitization is mediated by changes in quaternary structure of the ligand binding domain. 
  • Gq signaling causes glomerular injury by activating TRPC6. 
  • Growth factor receptors as molecular targets for cancer diagnosis and therapy. 
  • HER2 codon 655 polymorphism and risk of breast cancer in African Americans and whites. 
  • Heparin binding EGF is necessary for vasospastic response to endothelin. 
  • Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 
  • Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 
  • Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. 
  • Hypermutation in T cells questioned. 
  • Identification of a glycosaminoglycan-binding site in chemokine macrophage inflammatory protein-1alpha. 
  • Identification of a new family of protein phosphatase 2A regulatory subunits. 
  • Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 
  • Identification of a region at the N-terminus of phospholipase C-beta 3 that interacts with G protein beta gamma subunits. 
  • Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. 
  • Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. 
  • Imidazole rescue of a cytosine mutation in a self-cleaving ribozyme. 
  • In vitro activity of amikacin against isolates of Mycobacterium avium complex with proposed MIC breakpoints and finding of a 16S rRNA gene mutation in treated isolates. 
  • In vivo RNA editing of point mutations via RNA-guided adenosine deaminases. 
  • In vivo mutagenesis of the reporter plasmid pSP189 induced by exposure of host Ad293 cells to activated polymorphonuclear leukocytes. 
  • Increased transversions in a novel mutator colon cancer cell line. 
  • Inhibition of the receptor-binding function of clathrin adaptor protein AP-2 by dominant-negative mutant mu2 subunit and its effects on endocytosis. 
  • Interactions of nucleolin and ribosomal protein L26 (RPL26) in translational control of human p53 mRNA. 
  • Intrinsic disorder drives N-terminal ubiquitination by Ube2w. 
  • Isocitrate dehydrogenase mutations in gliomas: mechanisms, biomarkers and therapeutic target. 
  • Isolated sulfite oxidase deficiency: review of two cases in one family. 
  • Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeast. 
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 
  • Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. 
  • Live, attenuated simian immunodeficiency virus SIVmac-M4, with point mutations in the Env transmembrane protein intracytoplasmic domain, provides partial protection from mucosal challenge with pathogenic SIVmac251. 
  • Long range dynamic effects of point-mutations trap a response regulator in an active conformation. 
  • Mechanism of inactivation of CDKN2 and MTS2 in non-small cell lung cancer and association with advanced stage. 
  • Mechanism of local and global Ca2+ sensing by calmodulin in complex with a Ca2+ channel. 
  • Mechanisms of resistance to 1,3-bis(2-chloroethyl)-1-nitrosourea in human medulloblastoma and rhabdomyosarcoma. 
  • Mechanisms regulating SHORT-ROOT intercellular movement. 
  • Mechanistic characterization of the tetraacyldisaccharide-1-phosphate 4'-kinase LpxK involved in lipid A biosynthesis. 
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. 
  • Members of the G protein-coupled receptor kinase family that phosphorylate the beta2-adrenergic receptor facilitate sequestration. 
  • Methicillin-resistant Staphylococcus aureus: an evolving pathogen. 
  • Microcytic anemia in mk/mk mice is not corrected by retroviral-mediated gene transfer of wild-type p45 NF-E2. 
  • Microsatellite instability in gynecological sarcomas and in hMSH2 mutant uterine sarcoma cell lines defective in mismatch repair activity. 
  • Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. 
  • Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 
  • Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death. 
  • Modulation of high alcohol drinking in the inbred Fawn-Hooded (FH/Wjd) rat strain: implications for treatment. 
  • Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group phenotypes. 
  • Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. 
  • Molecular dissection of gating in the ClC-2 chloride channel. 
  • Molecular endpoints of Ca2+/calmodulin- and voltage-dependent inactivation of Ca(v)1.3 channels. 
  • Monocyte chemoattractant activity of Ser195-->Ala active site mutant recombinant alpha-thrombin. 
  • 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. 
  • Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 
  • Multiplex-PCR-based recombination as a novel high-fidelity method for directed evolution. 
  • Multiprotein HIV type 1 clade B DNA and MVA vaccines: construction, expression, and immunogenicity in rodents of the MVA component. 
  • Mutants resistant to LpxC inhibitors by rebalancing cellular homeostasis. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation analysis of presenillin 1 gene in Alzheimer's disease. 
  • Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line. 
  • Mutation and overexpression of p53 in early-stage epithelial ovarian cancer. 
  • Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 
  • Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. 
  • Mutation of bcl-x gene in non-Hodgkin's lymphoma. 
  • Mutation of p53 gene in hepatocellular carcinoma cell lines with HBX DNA. 
  • Mutational analysis of the PTEN gene in human uterine sarcomas. 
  • Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. 
  • Mutational fingerprints of aging. 
  • Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 
  • Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome. 
  • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. 
  • Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects. 
  • Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. 
  • Mutations of the E-cadherin gene in human gynecologic cancers. 
  • Mutations of the Ki-ras oncogene in endometrial carcinoma. 
  • Mutations of the bacteriophage T4 type II DNA topoisomerase that alter sensitivity to antitumor agent 4'-(9-acridinylamino)methanesulfon-m-anisidide and an antibacterial quinolone. 
  • Myocardial expression of a constitutively active alpha 1B-adrenergic receptor in transgenic mice induces cardiac hypertrophy. 
  • Nanoindentation studies of full and empty viral capsids and the effects of capsid protein mutations on elasticity and strength. 
  • Needle-in-a-haystack detection and identification of base substitution mutations in human tissues. 
  • Nitric oxide synthase 2(Lambaréné) (G-954C), increased nitric oxide production, and protection against malaria. 
  • Novel Brugada SCN5A mutation causing sudden death in children. 
  • Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings. 
  • Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. 
  • Novel point mutations in the German cockroach para sodium channel gene are associated with knockdown resistance (kdr) to pyrethroid insecticides. 
  • Oncogenic base substitution mutations in circulating leukocytes of normal individuals. 
  • Oncogenic mutations in ras create HLA-A2.1 binding peptides but affect their extracellular antigen processing. 
  • Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation. 
  • PER protein interactions and temperature compensation of a circadian clock in Drosophila. 
  • PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients. 
  • Pancreatic adenocarcinoma cell line, MDAPanc-28, with features of both acinar and ductal cells. 
  • Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. 
  • Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors. 
  • Pathophysiology of SPINK mutations in pancreatic development and disease. 
  • Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 
  • Phospholipid vesicles interfere with the binding of antibody fragments to the light chain of factor VIII. 
  • Phosphorylation of beta-arrestin2 regulates its function in internalization of beta(2)-adrenergic receptors. 
  • Phosphorylation of telokin by cyclic nucleotide kinases and the identification of in vivo phosphorylation sites in smooth muscle. 
  • Platelet-derived growth factor receptor association with Na(+)/H(+) exchanger regulatory factor potentiates receptor activity. 
  • Point mutations alter the mechanical stability of immunoglobulin modules. 
  • Potential role of WAF1/Cip1/p21 as a mediator of TGF-beta cytoinhibitory effect. 
  • Prenatal genetic diagnosis of Neu-Laxova syndrome. 
  • Presenilin-1 polymorphism and Alzheimer's disease. 
  • Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. 
  • Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 
  • Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. 
  • Prognostic implications of chromosome 17p deletions in human medulloblastomas. 
  • Progression of basal cell carcinoma through loss of chromosome 9q and inactivation of a single p53 allele. 
  • Psychological distress and quality of life associated with genetic testing for breast cancer risk. 
  • Purification of a 12,020-dalton protein that enhances the activation of mitogen-activated protein (MAP) kinase by MAP kinase kinase. 
  • R726L androgen receptor mutation is uncommon in prostate cancer families in the united states. 
  • RB regulates transcription of the p21/WAF1/CIP1 gene. 
  • Rapid evolution of cis-regulatory sequences via local point mutations. 
  • Regulation of the uncoupling protein-2 gene in INS-1 beta-cells by oleic acid. 
  • Relationship of DNA methylation to mutational changes and transcriptional organization in fusion-positive and fusion-negative rhabdomyosarcoma. 
  • Remembrance of things past. 
  • Requirement of the prolyl isomerase Pin1 for the replication checkpoint. 
  • Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib. 
  • Responsiveness of G protein-coupled odorant receptors is partially attributed to the activation mechanism. 
  • Role for the target enzyme in deactivation of photoreceptor G protein in vivo. 
  • Role of beta-arrestin in mediating agonist-promoted G protein-coupled receptor internalization. 
  • Saturation mutagenesis of His114 of EcoRI reveals relaxed-specificity mutants. 
  • Selective LXXLL peptides antagonize transcriptional activation by the retinoid-related orphan receptor RORgamma. 
  • Selective mutations in cloned and expressed alpha-macroglobulin receptor binding fragment alter binding to either the alpha2-macroglobulin signaling receptor or the low density lipoprotein receptor-related protein/alpha2-macroglobulin receptor. 
  • Sensitive and quantitative detection of KRAS2 gene mutations in pancreatic duct juice differentiates patients with pancreatic cancer from chronic pancreatitis, potential for early detection. 
  • Sensitivity of the ViroSeq HIV-1 genotyping system for detection of the K103N resistance mutation in HIV-1 subtypes A, C, and D. 
  • Single-cell RNA-seq supports a developmental hierarchy in human oligodendroglioma. 
  • Site-directed mutagenesis of recombinant sulfite oxidase: identification of cysteine 207 as a ligand of molybdenum. 
  • Site-specific phosphorylation and point mutations of telokin modulate its Ca2+-desensitizing effect in smooth muscle. 
  • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. 
  • Small-Molecule-Mediated Degradation of the Androgen Receptor through Hydrophobic Tagging. 
  • Solution structure of the core NFATC1/DNA complex. 
  • Somatic mutations in VHL germline deletion kindred correlate with mild phenotype. 
  • Specificity of human bactericidal antibodies against PorA P1.7,16 induced with a hexavalent meningococcal outer membrane vesicle vaccine. 
  • Spectrum of mutation and frequency of allelic deletion of the p53 gene in ovarian cancer. 
  • Spread of artemisinin resistance in Plasmodium falciparum malaria. 
  • Structural basis for impaired 5' processing of a mutant tRNA associated with defects in neuronal homeostasis. 
  • Structural basis of lipid binding for the membrane-embedded tetraacyldisaccharide-1-phosphate 4'-kinase LpxK. 
  • Structural basis of selection and thermostability of laboratory evolved Bacillus subtilis lipase. 
  • Structure and function of the UvrB protein. 
  • Switching of the coupling of the beta2-adrenergic receptor to different G proteins by protein kinase A. 
  • TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. 
  • Targeted gene replacement demonstrates that myristoyl-CoA: protein N-myristoyltransferase is essential for viability of Cryptococcus neoformans. 
  • Targeting the entrance channel of NNIBP: Discovery of diarylnicotinamide 1,4-disubstituted 1,2,3-triazoles as novel HIV-1 NNRTIs with high potency against wild-type and E138K mutant virus. 
  • Targets of immunophilin-immunosuppressant complexes are distinct highly conserved regions of calcineurin A. 
  • Temperature-induced opening of TRPV1 ion channel is stabilized by the pore domain. 
  • The A581G Mutation in the Gene Encoding Plasmodium falciparum Dihydropteroate Synthetase Reduces the Effectiveness of Sulfadoxine-Pyrimethamine Preventive Therapy in Malawian Pregnant Women. 
  • The CovR response regulator of group A streptococcus (GAS) acts directly to repress its own promoter. 
  • The CpG island methylator phenotype and chromosomal instability are inversely correlated in sporadic colorectal cancer. 
  • The Expression of Functional Vpx during Pathogenic SIVmac Infections of Rhesus Macaques Suppresses SAMHD1 in CD4+ Memory T Cells. 
  • The U1 small nuclear ribonucleoprotein (snRNP) 70K protein is transported independently of U1 snRNP particles via a nuclear localization signal in the RNA-binding domain. 
  • 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 conserved seven-transmembrane sequence NP(X)2,3Y of the G-protein-coupled receptor superfamily regulates multiple properties of the beta 2-adrenergic receptor. 
  • The effects of nucleotide substitution model assumptions on estimates of nonparametric bootstrap support. 
  • The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans. 
  • The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. 
  • The genetic landscape of the childhood cancer medulloblastoma. 
  • The human fetal lymphocyte lineage: identification by CD27 and LIN28B expression in B cell progenitors. 
  • The nuclear factor-kappa B RelA transcription factor is constitutively activated in human pancreatic adenocarcinoma cells. 
  • The p53 signal transduction pathway is intact in human neuroblastoma despite cytoplasmic localization. 
  • The pore-domain of TRPA1 mediates the inhibitory effect of the antagonist 6-methyl-5-(2-(trifluoromethyl)phenyl)-1H-indazole. 
  • The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 
  • The rRNA-encoding DNA array has an altered structure in topoisomerase I mutants of Saccharomyces cerevisiae. 
  • The structural basis for the selectivity of benzotriazole inhibitors of PTP1B. 
  • 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. 
  • Trafficking of yellow-fluorescent-protein-tagged mu1 subunit of clathrin adaptor AP-1 complex in living cells. 
  • Transcriptional regulation of the mouse uncoupling protein-2 gene. Double E-box motif is required for peroxisome proliferator-activated receptor-gamma-dependent activation. 
  • TrkB-Shc Signaling Protects against Hippocampal Injury Following Status Epilepticus. 
  • Two types of recombination hotspots in bacteriophage T4: one requires DNA damage and a replication origin and the other does not. 
  • Two-dimensional protein crystallization via metal-ion coordination by naturally occurring surface histidines. 
  • Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. 
  • Type II collagen gene variants and inherited osteonecrosis of the femoral head. 
  • Uncoupling of the signaling and caspase-inhibitory properties of X-linked inhibitor of apoptosis. 
  • Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. 
  • Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 
  • X-ray crystallographic studies of streptavidin mutants binding to biotin. 
  • Yeast Cdc42 functions at a late step in exocytosis, specifically during polarized growth of the emerging bud. 
  • [Livedoid vasculopathy with heterozygous factor V Leiden mutation and sticky platelet syndrome]. 
  • p27 and cyclin D1 abnormalities in uterine papillary serous carcinoma. 
  • p53 codon 72 Arg homozygotes are associated with an increased risk of cutaneous melanoma. 
  • p53 status in spontaneous and dimethylnitrosamine-induced renal cell tumors from rats. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Guan, Ziqiang, Research Professor in Biochemistry, Biochemistry
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Kelsoe, Garnett H., James B. Duke Distinguished Professor of Immunology, Integrative Immunobiology
  • Krangel, Michael S., George Barth Geller Distinguished Professor of Immunology, Integrative Immunobiology
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Milano, Carmelo Alessio, Joseph W. and Dorothy W. Beard Distinguished Professor of Experimental Surgery, Surgery, Cardiovascular and Thoracic Surgery