Keywords: جهش مزمن; Hermansky-Pudlak syndrome; HPS4; Platelet granule secretion; Novel mutation; Nonsense mutation;
مقالات ISI جهش مزمن (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: جهش مزمن; Dystrophin; Nonsense mutation; RNA sequencing; Intermediate muscular dystrophy;
Keywords: جهش مزمن; Genetic eye disease; Premature termination codon; Nonsense mutation; Nonsense suppression therapy; Readthrough; Translational bypass; Aminoglycosides; Ataluren;
Keywords: جهش مزمن; Duchenne dystrophy; Milder progression; Nonsense mutation; No dystrophin;
Keywords: جهش مزمن; Nonsense mutation; Becker muscular dystrophy; Widespread muscle hypertrophy; Dystrophinopathy;
Keywords: جهش مزمن; Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS); Inherited peripheral neuropathy (IPN); Nonsense mutation; Deletion
Keywords: جهش مزمن; PTCs readthrough; CFTR gene; Nonsense mutation; Oxadiazoles; Cystic fibrosis
Keywords: جهش مزمن; Exon skipping; Chemical; Staurosporine; Nonsense mutation; Dystrophin
Rescuing the CFTR protein function: Introducing 1,3,4-oxadiazoles as translational readthrough inducing drugs
Keywords: جهش مزمن; Cystic fibrosis; Premature termination codon; Nonsense mutation; Genetic disorder; Oxadiazole; CCR2; CC chemokine receptor 2; CCL2; CC chemokine ligand 2; CCR5; CC chemokine receptor 5; TLC; thin layer chromatography;
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing
Keywords: جهش مزمن; Hypertriglyceridemia; Ion torrent PGM sequencing; Panel-based NGS sequencing; LMF1 gene; Nonsense mutation;
Short communicationIdentification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency
Keywords: جهش مزمن; Leigh syndrome; SURF1; COX deficiency; Deletion; Nonsense mutation;
MiR-128 and miR-125 regulate expression of coagulation Factor IX gene with nonsense mutation by repressing nonsense-mediated mRNA decay
Keywords: جهش مزمن; MicroRNA; Hemophilia; Factor IX; Nonsense mutation; NMD
Identification of a nonsense mutation in APAF1 that is likely causal for a decrease in reproductive efficiency in Holstein dairy cattle
Keywords: جهش مزمن; nonsense mutation; APAF1; dairy cattle; resequencing;
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay
Keywords: جهش مزمن; Protein C deficiency; PROC; Nonsense mutation; Premature termination codons (PTCs); Nonsense-mediated mRNA decay (NMD);
Enhancement of premature stop codon readthrough in the CFTR gene by Ataluren (PTC124) derivatives
Keywords: جهش مزمن; Cystic fibrosis; PTCs readthrough; CFTR gene; Green fluorescent protein; Nonsense mutation; Fluorinated oxadiazole;
A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population
Keywords: جهش مزمن; Hepatocyte nuclear factor 1-alpha; Maturity-onset diabetes of the young, type 3; Nonsense mutation;
Novel SOST gene mutation in a sclerosteosis patient from Morocco: A case report
Keywords: جهش مزمن; Sclerosteosis; SOST gene; LRP4 gene; Sclerostin; Nonsense mutation; North Africa
Base substitution mutations in uridinediphosphate-dependent glycosyltransferase 76G1 gene of Stevia rebaudiana causes the low levels of rebaudioside A: Mutations in UGT76G1, A key gene of steviol glycosides synthesis
Keywords: جهش مزمن; Stevia rebaudiana (Bert) Bertoni; Low-rebaudioside A; UGT76G1; Nonsense mutation; Amino acid substitution mutation
Suppression of stop codon UGA in acrB can contribute to antibiotic resistance in Klebsiella pneumoniae ATCC10031
Keywords: جهش مزمن; SDS; sodium dodecyl sulfate; TPPCl; tetraphenylphosphonium; CCCP; carbonyl cyanide m-chlorophenylhydrazone; RND; resistance-nodulation-cell division; RT-PCR; reverse transcription polymerase chain reaction; MIC; minimum inhibitory concentration; PCR;
Dysregulation of the TGFBI gene is involved in the oncogenic activity of the nonsense mutation of hepatitis B virus surface gene sW182*
Keywords: جهش مزمن; HBV; hepatitis B virus; TGFBI; transforming growth factor-β-induced; HCC; hepatocellular carcinoma; HBcAg; hepatitis B core antigen; GSEA; gene set enrichment analysis; qPCR; quantitative polymerase chain reaction; CREB; cyclic AMP-responsive element bin
A nonsense mutation in PRNP associated with clinical Alzheimer's disease
Keywords: جهش مزمن; Alzheimer's disease; Prion; PRNP; Nonsense mutation; Exome sequencing;
Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing
Keywords: جهش مزمن; Mucolipidosis; N-acetylglucosamine-1-phosphotransferase; Nonsense mutation; Massively-parallel sequencing
Features of missense/nonsense mutations in exonic splicing enhancer sequences from cancer-related human genes
Keywords: جهش مزمن; Exonic splicing enhancer; Cancer; Human gene; Missense mutation; Nonsense mutation
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 مزمن; Fabry disease; Missense mutation; Nonsense mutation; Alpha-galactosidase A
Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal
Keywords: جهش مزمن; Síndrome de Sotos; Defectos congénitos de glucosilación; Cutis laxa; Mutación nonsense; Gen NSD1Sotos syndrome; Congenital disorders of glycosylation; Overgrowth syndrome; Cutis laxa; NSD1 gene; Nonsense mutation
A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle
Keywords: جهش مزمن; Cardiomyopathy; OPA3 gene; Positional cloning; Nonsense mutation; Cattle
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis
Keywords: جهش مزمن; nonsense mutation; proximal renal tubular acidosis; sodium bicarbonate cotransporter
A nonsense mutation in Gnat1, encoding the α subunit of rod transducin, in spontaneous mouse models of retinal dysfunction
Keywords: جهش مزمن; mouse; nonsense mutation; rod dysfunction; transducin
Complete Apo AI Deficiency in an Iraqi Mandaean Family: Case studies and review of the literature
Keywords: جهش مزمن; Apo A-1; Cholesterol efflux; CRP; Electrophoresis; Nonsense mutation; Oxidized LDL
A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy
Keywords: جهش مزمن; Hypertrophic cardiomyopathy; Cardiac myosin-binding protein C gene; Nonsense mutation
Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations
Keywords: جهش مزمن; Long QT syndrome; HERG; Nonsense mutation; Aminoglycoside antibiotics
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin
Keywords: جهش مزمن; Nonsense mutation; Hairless gene; Atrichia with papular lesions (APL); Autosomal recessive; Alopecia; Hairloss
Nonsense mutation of feline β-hexosaminidase β-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats
Keywords: جهش مزمن; Gangliosidosis; Sandhoff disease; β-Hexosaminidase; Cat; Nonsense mutation; Alternative splicing
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
Keywords: جهش مزمن; Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome; SLC25A15; Nonsense mutation; R275X mutation; Phenotype–genotype correlation
Translational readthrough induction of pathogenic nonsense mutations
Keywords: جهش مزمن; Aminoglycosides; Readthrough; Nonsense mutation; Translation termination; NMD
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia
Keywords: جهش مزمن; Ataxia telangiectasia; ATM; Mutation analysis; Missense mutation; Nonsense mutation; Homozygous mutation; Heterozygous mutation
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions
Keywords: جهش مزمن; Atrichia with papular lesions; Hairless; Nonsense mutation; Nonsense mediated mRNA decay;