دانلود مقالات ISI درباره جهش Missense + ترجمه فارسی

جهش های مزانش کلاژن گلی: اثر هویت باقی مانده بر ساختار کلاژن و اتصال انتگرال

Collagen Gly missense mutations: Effect of residue identity on collagen structure and integrin binding

Keywords: جهش Missense; OI; Osteogenesis Imperfecta; MD; molecular dynamics; HB; hydrogen bonding; CL; collagen-like; Tm; melting temperature; CD; circular dichroism; DSC; differential scanning calorimetry; MRE; mean residue ellipticity; Osteogenesis Imperfecta; Collagen; Missen

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

یک مورد هتروزیگوت ترکیبی از کمبود سولفیت اکسیداز جدا شده

A compound heterozygote case of isolated sulfite oxidase deficiency

Keywords: جهش Missense; SUOX; sulfite oxidase; Compound heterozygote; Point mutation; Missense mutation; Transition; Transversion; Fibroblasts; Sulfite oxidase activity;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2017 سفارش ترجمه

تکامل سریع و همگرا در ژنوم چندگانه گلیوبلاستوما

Rapid and convergent evolution in the Glioblastoma multiforme genome

Keywords: جهش Missense; Glioblastoma multiforme; Somatic evolution; Missense mutation; Convergent evolution; Neutral evolution

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies

Keywords: جهش Missense; Rett-related disorder; HDAC8; De novo; Missense mutation; Skewed X-inactivation; Cornelia de Lange syndrome;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2018 سفارش ترجمه

A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor

Keywords: جهش Missense; Hereditary angioedema; Plasminogen; Kringle domain; C1 inhibitor; Coagulation factor XII; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

Pathogenic predictions of non-synonymous variants and their impacts: A computational assessment of ARHGEF6 gene

Keywords: جهش Missense; Computational methods; ARHGEF6; Intellectual disability; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2018 سفارش ترجمه

Structural effects of extracellular loop mutations in CFTR helical hairpins

Keywords: جهش Missense; Cystic fibrosis; Helical hairpin; CFTR; Circular dichroism; SDS-PAGE gels; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 34 صفحه سال انتشار : 2018 سفارش ترجمه

Fishing wild-type sparing inhibitors of proto-oncogene c-met variants in renal cell carcinoma from a curated tyrosine kinase inhibitor pool using analog-sensitive kinase technology

Keywords: جهش Missense; Renal cell carcinoma; c-Met; Tyrosine kinase inhibitor; Selectivity; Missense mutation; Inhibitor response-to-kinase mutation profile;

دانلود رایگان متن کامل مقاله ISI 38 صفحه سال انتشار : 2018 سفارش ترجمه

Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia

Keywords: جهش Missense; Hereditary spastic paraplegia; Spastin; Missense mutation; ATPase activity; Axonal abnormality; Gene therapy;

دانلود رایگان متن کامل مقاله ISI 38 صفحه سال انتشار : 2018 سفارش ترجمه

Letter to the Editors-in-ChiefFactor VII Tokushima (Cys22 → Gly) is not γ-carboxylated due to a disrupted γ-carboxylase recognition site

Keywords: جهش Missense; Factor VII; Factor VII deficiency; Missense mutation; γ-Carboxyglutamic acid; γ-Carboxylase recognition site; Protein Z; BHK; baby hamster kidney cell; CHO; Chinese hamster ovary cell; FVII(a); (activated) factor VII; FIX(a); (activated) factor IX; FX(a

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Homozygous alpha-synuclein p.A53V in familial Parkinson's disease

Keywords: جهش Missense; Genetics; SNCA; Alpha-synuclein; Missense mutation; Parkinson's disease;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Full Length ArticleAntithrombin Debrecen (p.Leu205Pro) - Clinical and molecular characterization of a novel mutation associated with severe thrombotic tendency

Keywords: جهش Missense; Antithrombin deficiency; Expression study; Molecular modeling; Missense mutation; Family study;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea

Keywords: جهش Missense; Breast neoplasm; BRCA1; Missense mutation; Ovarian neoplasm;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Computational prediction and analysis of deleterious cancer associated missense mutations in DYNC1H1

Keywords: جهش Missense; Cancer; Missense mutation; Prediction; Protein function; Protein stability;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Full Length ArticleGene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13)

Keywords: جهش Missense; Protein S; Venous thrombosis; Missense mutation; Frameshift mutation; Functional analysis;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment

Keywords: جهش Missense; Congenital non-syndromic autosomal recessive deafness; Missense mutation; Myosin IIIA; Target sequencing

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B

Keywords: جهش Missense; ABL; abetalipoproteinemia; FHBL; familial hypobetalipoproteinemia; CMRD; chylomicron retention disease; HDL-C; high density lipoprotein-cholesterol; LDL-C; low density lipoprotein-cholesterol; TC; total cholesterol; TG; triglyceride; Apolipoprotein B; Fam

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency

Keywords: جهش Missense; cMyBP-C; Hypertrophic cardiomyopathy; Missense mutation; Animal models of cardiac disease;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

SCN5A(K817E), a novel Brugada syndrome–associated mutation that alters the activation gating of NaV1.5 channel

Keywords: جهش Missense; Brugada syndrome; Sodium channel; Voltage sensor; Missense mutation; Genetics

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications

Keywords: جهش Missense; aPTT; activated partial thromboplastin time; PAGE; polyacrylamide gel electrophoresis; PCR; polymerase chain reaction; PT; prothrombin time; SDS; sodium dodecyl sulfate; TT; thrombin time; Bleeding; Fibrinolysis; Hypodysfibrinogenemia; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Identification of Individual Cancer-Specific Somatic Mutations for Neoantigen-Based Immunotherapy of Lung Cancer

Keywords: جهش Missense; Neoantigen; Immunotherapy; Exome; Missense mutation; Genetic data bank;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2016 سفارش ترجمه

Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue

Keywords: جهش Missense; Cardiac myosin-binding protein-C; Engineered heart tissue; Haploinsufficiency; Hypertrophic cardiomyopathy; Missense mutation; Truncating mutation;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin

Keywords: جهش Missense; Progranulin; Granulin; Frontotemporal dementia; Missense mutation; Protein processing;

دانلود رایگان متن کامل مقاله ISI 27 صفحه سال انتشار : 2016 سفارش ترجمه

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome

Keywords: جهش Missense; CdLS; Cornelia de Lange syndrome; NIPBL; Nipped-B-like; PCR; polymerase chain reaction; MLPA; Multiplex Ligation-dependent Probe Amplification; Cornelia de Lange syndrome; NIPBL; Frameshift mutation; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity

Keywords: جهش Missense; d-bifunctional protein; 2-enoyl-CoA hydratase; 17-β-estradiol dehydrogenase; Missense mutation; Multifunctional enzyme type 2; Peroxisomal β-oxidation

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus–Merzbacher disease

Keywords: جهش Missense; PMD; PLP1; Missense mutation; Subcellular localization

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family

Keywords: جهش Missense; Idiopathic congenital nystagmus; FRMD7; Missense mutation; Protein modeling; Hydrophobic pocket; Intra-domain interactions;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Dissecting the mechanism of colorectal tumorigenesis based on RNA-sequencing data

Keywords: جهش Missense; Colorectal cancer; RNA-sequencing; Differentially expressed genes; Transcription factors; Missense mutation; Gene fusion

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency

Keywords: جهش Missense; PC; Protein C; APC; Activated protein C; FVa; activated factor V; FVIIIa; activated factor VIII; PS; protein S; FV; native factor V; PROC; gene for human PC; Gla; gamma-carboxyglutamic acid; EGF; epidermal growth factor; SP; serine protease; VTE; venous t

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel

Keywords: جهش Missense; Amelogenesis; Missense mutation; FAM83H gene; Amelogenin retention; Mild phenotype;

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2015 سفارش ترجمه

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria

Keywords: جهش Missense; Dyschromatosis universalis hereditaria; ABCB6; Missense mutation;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Keywords: جهش Missense; AASA; α-aminoadipic semialdehyde; ATQ; antiquitin; HGMD; Human Genome Mutation Database; IPTG; isoproplythiogalactoside; P6C; Δ1-piperideine-6-carboxlylate; PDB; Protein Data Base; PDE; pyridoxine dependent epilepsy; PLP; pyridoxal phosphate; SDS-PAGE;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum

Keywords: جهش Missense; ASD; atrial septal defect; AVSD; atrioventricular septal defect; CHD; congenital heart defect; Cx43; connexin 43; EVS; exome variant server; FISH; fluorescent in situ hybridization; GJA1; gap junction alpha 1 gene; GJPA1; gap junction alpha 1 pseudogene;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease

Keywords: جهش Missense; Early-onset Alzheimer disease; Presenilin 1; Missense mutation; Cosegregation analysis;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening

Keywords: جهش Missense; Fragile X syndrome; FMR1; Missense mutation; Mental retardation; High resolution melting (HRM) analysis

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries

Keywords: جهش Missense; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; MLPA; Multiplex Ligation-dependent Probe Amplification; SIFT; Sorting Intolerant From Tolerant; PolyPhen; Polymorphism Phenotyping; Panther; Protein ANalysis THrough Evolutionary Relationsh

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

The germline CDH1 c.48 G > C substitution contributes to cancer predisposition through generation of a pro-invasive mutation

Keywords: جهش Missense; CDH1; Hereditary gastric cancer; Missense mutation; Invasion;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

FGB mutations leading to congenital quantitative fibrinogen deficiencies: An update and report of four novel mutations

Keywords: جهش Missense; DVT; deep venous thrombosis; PE; pulmonary embolism; RE; endoplasmic reticulum; Afibrinogenemia; Hemorrhage; Hypofibrinogenemia; Missense mutation; Blood coagulation disorders;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Prediction of the influences of missense mutations on cholesteryl ester transfer protein structure

Keywords: جهش Missense; Missense mutation; Cholesteryl ester transfer protein; Reverse cholesterol transport; Hyperalphalipoproteinemia; Structure prediction; Cholesterol recognition amino acid consensus; Cholesterol consensus motif;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Identification of bovine NPC1 gene cSNPs and their effects on body size traits of Qinchuan cattle

Keywords: جهش Missense; cSNPs; coding single nucleotide polymorphisms; bp; base pair(s); NPC; Niemann-Pick type C; GLM; general linear model; He; observed heterozygosity; Ho; observed homozygosity; HWE; Hardy-Weinberg equilibrium; LD; linkage disequilibrium; MAS; marker assi

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function

Keywords: جهش Missense; Nicotinic acetylcholine receptor; Signal peptide; Single nucleotide polymorphism; Missense mutation; Receptor structure-function; Electrophysiology; ACh; acetylcholine; nAChR; nicotinic acetylcholine receptor(s); Imax; peak current response; SNP; single n

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2014 سفارش ترجمه

Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) α2 subunit influence nAChR function

Keywords: جهش Missense; Nicotinic acetylcholine receptor; Single nucleotide variation; Missense mutation; Receptor structure-function; Electrophysiology; ACh; acetylcholine; nAChRs; nicotinic acetylcholine receptors; Imax; peak current response; SNP; single nucleotide polymorp

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2014 سفارش ترجمه

A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing

Keywords: جهش Missense; FGFR3 gene; Hypochondroplasia; Missense mutation; Next-generation sequencing;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Natural mutations lead to enhanced proteasomal degradation of human Ncb5or, a novel flavoheme reductase

Keywords: جهش Missense; Missense mutation; Proteasome; Desaturase; Endoplasmic reticulum; Diabetes; Ncb5or; NADH cytochrome b5 oxidoreductase; ER; endoplasmic reticulum; FFA; free fatty acid;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus–Merzbacher phenotype

Keywords: جهش Missense; Pelizaeus–Merzbacher disease; PLP1 gene; Missense mutation

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with Pyknodysostosis

Keywords: جهش Missense; CTSK, cathepsin K; OA, osteoarthritis; RA, rheumatoid arthritisPyknodysostosis; Cathepsin K; Missense mutation

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability

Keywords: جهش Missense; HUWE1; Missense mutation; Intellectual disability; Chromosome X exome sequencing

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

Keywords: جهش Missense; MYH9-related disease; MYH9 gene; Mutational screening; Missense mutation; In frame deletion/duplication; Genotype–phenotype correlation

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 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

Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis

Keywords: جهش Missense; Glycosphingolipidosis; GM1 gangliosidosis; Lysosomal β-galactosidase; GLB1 gene; Missense mutation; Insertion mutation

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