دانلود مقالات ISI درباره جهش Missense + ترجمه فارسی

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Keywords: جهش Missense; AASA; α-aminoadipic semialdehyde; ATQ; antiquitin; HGMD; Human Genome Mutation Database; IPTG; isopropylthiogalactoside; P6C; Δ1-piperideine 6-carboxylate; PDE; pyridoxine dependent epilepsy; PLP; pyridoxal phosphate; Metabolic epilepsy; Pyridoxine; Mis

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

Keywords: جهش Missense; Fabry disease; α-Galactosidase A; Missense mutation; Globotriaosylceramide; Globotriaosylsphingosine; Structural modeling;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Novel missense mutations in PAX9 causing oligodontia

Keywords: جهش Missense; Oligodontia; PAX9; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Features of missense/nonsense mutations in exonic splicing enhancer sequences from cancer-related human genes

Keywords: جهش Missense; Exonic splicing enhancer; Cancer; Human gene; Missense mutation; Nonsense mutation

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: Characterization of the R266K CBS mutant

Keywords: جهش Missense; Cystathionine β-synthase; Heme; Protein expression; Affinity chromatography; Protein folding; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Expression of Two N1 Clones with Single Amino Acid Dissimilarity of Avian Influenza H5N1 Virus

Keywords: جهش Missense; missense mutation; in vitro expression; H5N1; N1 gene

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Membrane protein misassembly in disease

Keywords: جهش Missense; Disease; Missense mutation; Membrane protein misfolding; Helix–helix interaction; Pharmacoperone; Folding

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man

Keywords: جهش Missense; Fabry disease; Missense mutation; Nonsense mutation; Alpha-galactosidase A

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

One germline mutation of PTCH gene in a Chinese family with non-syndromic keratocystic odontogenic tumours

Keywords: جهش Missense; familial non-syndromic keratocystic odontogenic tumours; PTCH gene; PCR; sequence analysis; missense mutation; Chinese family

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

G244E in the canine factor IX gene leads to severe haemophilia B in Rhodesian Ridgebacks

Keywords: جهش Missense; Haemophilia B; Rhodesian Ridgeback; Missense mutation; Protein modelling; Dog

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family

Keywords: جهش Missense; Oligodontia; PAX9; MSX1; AXIN2; Phenotype; Genotype; Single nucleotide polymorphism; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome

Keywords: جهش Missense; Long QT syndrome; Kv11.1 channels; Missense mutation; Patch-clamp; HERGAP, action potential; CHO, Chinese hamster ovary cells; Erev, reversal potential; IE637G, current generated by p.E637G Kv11.1 channels; IKr, rapid component of the delayed rectifier K+

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

Functional analysis of missense mutations G36A and G51A in PAX6, and PAX6(5a) causing ocular anomalies

Keywords: جهش Missense; PAX6; missense mutation; ocular anomalies; DNA binding; transactivation; conformationPAX6, paired box gene6; PD, paired domain; HD, homeodomain; PST, proline–serine–threonine rich; TAD, transactivation domain; PAI, N-terminal subdomain of the paired domai

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2011 سفارش ترجمه

Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis

Keywords: جهش Missense; Protein C deficiency; coagulation; missense mutation; deep vein thrombosis

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2010 سفارش ترجمه

Profile of TP53 gene mutations in sinonasal cancer

Keywords: جهش Missense; TP53 mutation profile; Missense mutation; Sinonasal cancer; Wood-dust exposure; Smoking

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

The porcine tribbles homolog 3 (TRIB3) gene: Identification of a missense mutation and association analysis with meat quality and production traits in Italian heavy pigs

Keywords: جهش Missense; Association study; Back fat thickness; Italian heavy pigs; Missense mutation; SNP; TRIB3

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

Keywords: جهش Missense; Arrhythmogenic right ventricular cardiomyopathy; Desmoglein-2; Desmosome; Genetics; Missense mutation; Plakophilin-2; ARVC; arrhythmogenic right ventricular cardiomyopathy; Cx43; connexin43; DSC2; desmocollin-2; DSG2; desmoglein-2; DSP; desmoplakin; GFP;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colours and identification of the putative e allele at the ovine Extension locus

Keywords: جهش Missense; Coat colour; MC1R; Missense mutation; Ovine breeds

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه

Effects of congenital cataract mutation R116H on αA-crystallin structure, function and stability

Keywords: جهش Missense; αA-crystallin; Autosomal dominant congenital cataract; Missense mutation; Protein stability; Protein aggregationANS, 1-anilinonaphtalene-8-sulfonate; CD, circular dichroism; Cm, GdnHCl concentration at the midpoint of a two-state transition; DTT, dithioth

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2010 سفارش ترجمه

A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient

Keywords: جهش Missense; PAX6; Missense mutation; Autism; Aniridia

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2009 سفارش ترجمه

Evaluation of channel function after alteration of amino acid residues at the pore center of KCNQ1 channel

Keywords: جهش Missense; Long QT syndrome; Missense mutation; KCNQ1; IKs; Pore center; Amino acid residue

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

The functional effect of pathogenic mutations in Rab escort protein 1

Keywords: جهش Missense; REP-1, Rab escort protein 1 from human; rep-1, Rab escort protein 1 from rat; FB, fibroblasts; PBMCs, peripheral blood mononuclear cellsChoroideremia; Rab escort protein 1; Missense mutation; Structural mechanism; Protein destabilization

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients

Keywords: جهش Missense; Focal segmental glomerulosclerosis (FSGS); Podocyte; TRPC6; ACTN4; NPHS2; Missense mutation

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

A novel missense mutation of ABCA1 in transmembrane α-helix in a Japanese patient with Tangier disease

Keywords: جهش Missense; Tangier disease; ABCA1; Missense mutation; Transmembrane domain

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Molecular mechanisms of functional rescue mediated by P53 tumor suppressor mutations

Keywords: جهش Missense; p53; DNA-binding domain; missense mutation; suppressor mutation; molecular dynamics; protein stability;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2009 سفارش ترجمه

Mutant γPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells

Keywords: جهش Missense; γPKC; Spinocerebellar ataxia type 14 (SCA14); Missense mutation; Aggregate formation; Purkinje cells; Dendrites; Translocation; FRAP; Oligomer formation

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2009 سفارش ترجمه

Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria

Keywords: جهش Missense; Acute intermittent porphyria; Hydroxymethylbilane synthase; Missense mutation; In vitro expression

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model

Keywords: جهش Missense; Hereditary hemorrhagic telangiectasia (HHT); Missense mutation; Variant of uncertain significance (VUS); Family segregation study; Bayes factor

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه

Mutations in the hairless gene underlie APL in three families of Pakistani origin

Keywords: جهش Missense; Missense mutation; Deletion; Hairless gene; Atrichia with papular lesions; Autosomal recessive; Alopecia; Hairless

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2008 سفارش ترجمه

Congenital hypofibrinogenemia: Characterization of two missense mutations affecting fibrinogen assembly and secretion

Keywords: جهش Missense; Fibrinogen; Hypofibrinogenemia; Missense mutation; Protein assembly; Protein secretion

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2008 سفارش ترجمه

Spontaneous appearance of Tay-Sachs disease in an animal model

Keywords: جهش Missense; β-Hexosaminidase A gene; Tay-Sachs disease; Animal model; Missense mutation; Lysosomal storage disorder;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia

Keywords: جهش Missense; Autosomal-dominant non-syndromic oligodontia; MSX1; Missense mutation

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

Genetic variants in PCSK9 in the Japanese population: Rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population

Keywords: جهش Missense; PCSK9; Plasma LDL cholesterol; Rare genetic variants; General population; Missense mutation

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه

A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism

Keywords: جهش Missense; p63; SHFM; Missense mutation; SSCP; Chinese family;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)

Keywords: جهش Missense; missense mutation; molecular chaperone; mitochondrial function; patient cells; gene expressionAcN, acetonitrile; EBV, Epstein-Barr virus; HSP, heat shock protein; MS, mass spectrometry; PAGE, polyacrylamide gel electrophoresis; PBS, phosphate buffered sal

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2008 سفارش ترجمه

An abundant acyl-CoA (Δ9) desaturase transcript in pheromone glands of the cabbage moth, Mamestra brassicae, encodes a catalytically inactive protein

Keywords: جهش Missense; Pheromone gland; Acyl-CoA desaturase; Functional expression; Missense mutation; Lepidoptera; Noctuidae; Hadeninae; Mamestra brassicae;

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2008 سفارش ترجمه

Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel

Keywords: جهش Missense; CNG channel; CNGA3; CNGB3; Missense mutation; Patch–clamp; Rod monochromacy; Retina; Cone photoreceptor cell; cGMP

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2007 سفارش ترجمه

Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II)

Keywords: جهش Missense; Isolated growth hormone deficiency; Dominant transmission; Splice-site mutation; Missense mutation

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2007 سفارش ترجمه

Identification of a Novel VEGFR-3 Missense Mutation in a Chinese Family with Hereditary Lymphedema Type I

Keywords: جهش Missense; hereditary lymphedema; vascular endothelial growth factor receptor gene (VEGFR-3); missense mutation; autosomal dominant

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2007 سفارش ترجمه

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient

Keywords: جهش Missense; Fibrinogen; Afibrinogenemia; Aα chain; Missense mutation; Protein ex-vivo expression

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2007 سفارش ترجمه

Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis

Keywords: جهش Missense; CFTR; Chronic pancreatitis; Disease modifier; Genomic disorder; Gross deletion; Missense mutation; NHEJ, non-homologous end-joining; PRSS1; SPINK1

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2007 سفارش ترجمه

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

Keywords: جهش Missense; Hypophosphatasia; Mineralization; Phenotype–genotype correlation; Membrane anchoring; Missense mutation

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2007 سفارش ترجمه

A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism

Keywords: جهش Missense; Cameroon; Deletion; Missense mutation; Oculocutaneous albinism type I (OCA1A); Tyrosinase gene;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2006 سفارش ترجمه

Disparate phenotypic expression of ALAS2 R452H (nt 1407 G → A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma

Keywords: جهش Missense; Missense mutation; Skewed X-inactivation; Penetrance; TFR2 I449V; X chromosome

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2006 سفارش ترجمه

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

Keywords: جهش Missense; SCA6; EA2; Age of onset; Missense mutation; CAG repeat

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2006 سفارش ترجمه

Two new missense mutations of GAA in late onset glycogen storage disease type II

Keywords: جهش Missense; Glycogen storage disease type II; Late onset; GAA; Missense mutation

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2006 سفارش ترجمه

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia

Keywords: جهش Missense; Ataxia telangiectasia; ATM; Mutation analysis; Missense mutation; Nonsense mutation; Homozygous mutation; Heterozygous mutation

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2006 سفارش ترجمه

A missense mutation of the Toll-like receptor 3 gene in a patient with influenza-associated encephalopathy

Keywords: جهش Missense; Toll-like receptor; Innate immunity; RNA virus; Influenza-associated encephalopathy; Missense mutation

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2006 سفارش ترجمه

Transposon-derived repeats in the human genome and 5-methylcytosine-associated mutations in adjacent genes

Keywords: جهش Missense; DNA transposable elements; DNA methylation; Cytosine; Missense mutation; Nucleic acid databases; Human

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

Keywords: جهش Missense; Neuronal ceroid lipofuscinosis; CTSD; Cathepsin D; Canine; Missense mutation

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه