دانلود مقالات ISI درباره کدون از بین بردن زودرس + ترجمه فارسی

درمان های عملکردی برای بهبود زخم های پوستی در اپیدرمولیز بلوز

Functional therapies for cutaneous wound repair in epidermolysis bullosa

Keywords: کدون از بین بردن زودرس; EB; epidermolysis bullosa; BMZ; basement membrane zone; EBS; epidermolysis bullosa simplex; JEB; junctional epidermolysis bullosa; DEB; dystrophic epidermolysis bullosa; KS; kindler syndrome; DEJ; dermal-epidermal junction; PTC; premature termination codo

دانلود رایگان متن کامل مقاله ISI 35 صفحه سال انتشار : 2018 سفارش ترجمه

چالش ها در تعریف نقش احتباس اینترن در زیست شناسی طبیعی و بیماری

Challenges in defining the role of intron retention in normal biology and disease

Keywords: کدون از بین بردن زودرس; EST; expressed sequence tag; ID; intron detention; IR; intron retention; IRT; intron-retaining transcripts; mRNA; messenger RNA; NMD; nonsense mediated decay; PTC; premature termination codon; qRT-PCR; quantitative reverse transcription polymerase chain r

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

تنظیم پس از ترشح واکنش استرس اکسیداتیو در گیاهان

Post-transcriptional regulation of the oxidative stress response in plants

Keywords: کدون از بین بردن زودرس; 8-oxo-G; 8-hydroxyguanosine; ABA; abscisic acid; APX; ascorbate peroxidase; AS; alternative splicing; CEF; circled electron flux; CSD; CuZn-superoxide dismutase; DST; DownSTream; MV; methyl viologen; NDH; NADH-dehydrogenase; NMD; nonsense-mediated decay;

دانلود رایگان متن کامل مقاله ISI 60 صفحه سال انتشار : 2018 سفارش ترجمه

مکانیسم و ​​شواهدی از سرکوب بی معنی درمان اختلالات چشم ژنتیکی

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

Keywords: کدون از بین بردن زودرس; Genetic eye disease; Premature termination codon; Nonsense mutation; Nonsense suppression therapy; Readthrough; Translational bypass; Aminoglycosides; Ataluren;

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2017 سفارش ترجمه

ترجمه ژنتیک فیبروز کیستیک به پزشکی شخصی

Translating the genetics of cystic fibrosis to personalized medicine

Keywords: کدون از بین بردن زودرس; AAV; Adeno associated virus; ABC; ATP-binding cassette; ACMG; American College Medical Genetics; AH; Ancestral Haplotype; ASL; airway surface liquid; ATP; Adenosine triphosphate; cas; CRISPR associated; CF; Cystic fibrosis; CFTR; Cystic Fibrosis Transmemb

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

تنظیم برنامه های بیان ژن توسط عوامل اسپری شدن غنی از سریین-آرژینین

Regulation of gene expression programmes by serine-arginine rich splicing factors

Keywords: کدون از بین بردن زودرس; ChIP; chromatin immunoprecipitation; CLIP-seq; UV crosslinking and immunoprecipitation followed by high-throughput sequencing; ESE; exonic splicing enhancer; EJC; exon junction complex; hnRNP; heterogenous nuclear ribonucleoprotein; ISE; intronic splicing

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

مدل های سلولی برای بیماری مک آرل و خواندن آن از یک کدون ختم زودرس ناشی از آمینوگلیکوزید

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon

Keywords: کدون از بین بردن زودرس; Glycogen phosphorylase; PYGM; McArdle disease; Glycogen storage disease V; Aminoglycoside read-through; Premature termination codon; Cell model;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2013 سفارش ترجمه

A natural “GA” insertion mutation in the sequence encoding the 3′UTR of CXCL12/SDF-1α: Identification, characterization, and functional impact on mRNA splicing

Keywords: کدون از بین بردن زودرس; aa; amino acid(s); AREs; AU-rich elements; ARMS; amplification refractory mutation system; bp; base pair(s); cDNA; DNA complementary to RNA; cpm; counts per minute; CXCL; C-X-C motif chemokine ligand; CXCR; C-X-C chemokine receptor; d; deoxyribo; DMSO; di

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2019 سفارش ترجمه

Splicing activator RNPS1 suppresses errors in pre-mRNA splicing: A key factor for mRNA quality control

Keywords: کدون از بین بردن زودرس; Pre-mRNA splicing; RNPS1; Aurora kinase B; Aberrant splicing; Splicing fidelity; mRNA quality control; ASO; antisense oligoribonucleotides; AURKB; aurora kinase B; CLIP; UV-crosslinking and immunoprecipitation; CPC; chromosome passenger complex; DAPI; 4â€

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

The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans

Keywords: کدون از بین بردن زودرس; SMA; spinal muscular atrophy; SMN; survival of motor neuron; NMD; nonsense-mediated decay; PTC; premature termination codon; fl-SMN1; full-length SMN1; DMEM; Dulbecco's modified Eagle's medium; MLPA; multiplex ligation-dependent probe amplification; PCR;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Regulation of Tak1 alternative splicing by splice-switching oligonucleotides

Keywords: کدون از بین بردن زودرس; Splice-switching oligonucleotides; Vivo-morpholino; Tak1; Isoform function; Lipid metabolism; 2OMePS; 2′-O-methyl phosphorothioate; ALS; amyotrophic lateral sclerosis; AONs; Antisense oligonucleotides; AS; Alternative splicing; HFD; High-fat diet; NMD;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Isolation and characterization of porcine PILRB gene and its alternative splicing variants

Keywords: کدون از بین بردن زودرس; AS; alternative splicing; cDNA; complementary DNA; CDS; coding sequence; CHX; cycloheximide; NMD; nonsense-mediated mRNA decay; PCR; polymerase chain reaction; PILR; paired immunoglobulin-like type 2 receptor; PTC; premature termination codon; qPCR; quant

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

Evidence of post-transcriptional readthrough regulation in FGF5 gene of alpaca

Keywords: کدون از بین بردن زودرس; FGF5; Fibroblast growth factor 5; RT; Readthrough; PTC; Premature termination codon; FGF5s; Fibroblast growth factor 5 short isoform; Readthrough; FGF5; Alpaca; Suri; Huacaya; Post-trascriptional regulation;

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2018 سفارش ترجمه

EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure

Keywords: کدون از بین بردن زودرس; BMT; bone marrow transplantation; DEB; dystrophic epidermolysis bullosa; DEBRA; Dystrophic Epidermolysis Bullosa Research Association; EB; epidermolysis bullosa; EBS; epidermolysis bullosa simplex; JEB; junctional epidermolysis bullosa; PTC; premature ter

دانلود رایگان متن کامل مقاله ISI 25 صفحه سال انتشار : 2018 سفارش ترجمه

The splicing of tiny introns of Paramecium is controlled by MAGO

Keywords: کدون از بین بردن زودرس; EJC; exon junction complex; PTC; premature termination codon; NMD; nonsense-mediated decay; IR; intron retention; BLAST; basic local alignment search tool; dNTPs; deoxynucleotide triphosphates; EDTA; ethylenediaminetetraacetic acid; EEO; electroendosmosis

دانلود رایگان متن کامل مقاله ISI 35 صفحه سال انتشار : 2018 سفارش ترجمه

Discovery and expression analysis of novel transcripts of the human SR-related CTD-associated factor 1 (SCAF1) gene in human cancer cells using Next-Generation Sequencing

Keywords: کدون از بین بردن زودرس; cDNA; complementary DNA; CTD; C-terminal domain; DFS; disease-free survival; IGV; Integrative Genomics Viewer; ISPs; Ion Sphere™ Particles; NGS; Next-Generation Sequencing; ncRNAs; non-coding RNAs; NMD; non-sense-mediated mRNA decay; ORF; open reading f

دانلود رایگان متن کامل مقاله ISI 40 صفحه سال انتشار : 2018 سفارش ترجمه

Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts

Keywords: کدون از بین بردن زودرس; EJC; exon-junction complex; FLuc; firefly luciferase; NMD; nonsense-mediated mRNA decay; NPPK; Nagashima-type palmoplantar keratosis; PTC; premature termination codon; siRNA; small interfering RNA; SEM; standard error of the mean; UTR; untranslated region

دانلود رایگان متن کامل مقاله ISI 50 صفحه سال انتشار : 2018 سفارش ترجمه

Rescuing the CFTR protein function: Introducing 1,3,4-oxadiazoles as translational readthrough inducing drugs

Keywords: کدون از بین بردن زودرس; 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;

دانلود رایگان متن کامل مقاله ISI 53 صفحه سال انتشار : 2018 سفارش ترجمه

Heat stress-induced activation of a Trichoderma harzianum PIL superfamily gene

Keywords: کدون از بین بردن زودرس; EST; expressed sequence tag; NMD; nonsense-mediated mRNA decay; RT-PCR; reverse transcription-PCR; PCR; polymerase chain reaction; PTC; premature termination codon; UTR; untranslated region; Trichoderma; Bio-control agent; PIL family gene; Eisosomes; Heat

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

Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016

Keywords: کدون از بین بردن زودرس; ACDC; arterial calcification due to CD73 deficiency; AMP; adenosine monophosphate; ATP; adenosine triphosphate; GACI; generalized arterial calcification of infancy; PPi; inorganic pyrophosphate; PTC; premature termination codon; PXE; pseudoxanthoma elasti

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

A matter of maturity: The impact of pre-mRNA processing in gene expression and antigen presentation

Keywords: کدون از بین بردن زودرس; APA; alternative polyadenylation; BiFC; bimolecular fluorescence complementation; CF; cleavage factor; CJE; c-Jun gene's enhancer; CPSF; cleavage and polyadenylation specificity factor; CRM1; chromosome region maintenance 1 protein homolog; CstF; cleava

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

Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants

Keywords: کدون از بین بردن زودرس; NMD; nonsense-mediated decay; NAS; nonsense-associated altered splicing; PTC; premature termination codon; DG-DGGE; double gradient-denaturing gradient gel electrophoresis; PBSC; peripheral blood stem cell; HPLC; high performance liquid chromatography; AR

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2017 سفارش ترجمه

Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia

Keywords: کدون از بین بردن زودرس; PAX6; paired box gene 6; bp; base pair(s); del; delete; ins; insert; WAGR; Wilms tumor, aniridia, genitourinary anomalies and mental retardation; PD; paired domain; HD; homeodomain; PST; proline/serine/threonine-rich; PCR; polymerase chain reaction; NCBI;

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2017 سفارش ترجمه

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa

Keywords: کدون از بین بردن زودرس; DEJ; dermal-epidermal junction; EB; epidermolysis bullosa; NMD; nonsense mediated mRNA decay; PTC; premature termination codon; RDEB; recessive dystrophic epidermolysis bullosa;

دانلود رایگان متن کامل مقاله ISI 33 صفحه سال انتشار : 2017 سفارش ترجمه

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

Keywords: کدون از بین بردن زودرس; ACMG; American College of Medical Genetics and Genomics; ADI-R; Autism Diagnostic Interview-Revised; ADOS; Autism Diagnostic Observation Schedule; ANK; ankyrin repeat; ASD; autism spectrum disorder; BDNF; brain derived neurotrophic factor; BWA; Burrows-Wh

دانلود رایگان متن کامل مقاله ISI 36 صفحه سال انتشار : 2016 سفارش ترجمه

Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome

Keywords: کدون از بین بردن زودرس; CHD; chromodomain helicase DNA-binding; PGM; personal genome machine; HGMD; Human Gene Mutation Database; PTC; premature termination codon; NMD; nonsense mediated decay; CHARGE syndrome; CHD7; Novel mutation;

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

Increase of a group of PTC+ transcripts by curcumin through inhibition of the NMD pathway

Keywords: کدون از بین بردن زودرس; Curcumin; Premature termination codon; Nonsense-mediated decay; UPF1; SRSF1; HEXA;

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

Non-coding functions of alternative pre-mRNA splicing in development

Keywords: کدون از بین بردن زودرس; A3E; alternative 3′ terminal exon; APA; alternative cleavage and polyadenylation; ARE; AU-rich element; AS; alternative splicing; IR; intron retention; NMD; nonsense-mediated decay; NMTR; nonsense-mediated translational repression; NRE; nuclear retentio

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2015 سفارش ترجمه

A Novel Two-Nucleotide Deletion in the ATP7A Gene Associated With Delayed Infantile Onset of Menkes Disease

Keywords: کدون از بین بردن زودرس; Menkes disease; ATP7A; translation reinitiation; premature termination codon;

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

An UPF3-based nonsense-mediated decay in Paramecium

Keywords: کدون از بین بردن زودرس; Exon junction complex; Nonsense-mediated decay; Paramecium tetraurelia; Premature termination codon; Splicing; UPF3

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

Unusual splice site mutations disrupt FANCA exon 8 definition

Keywords: کدون از بین بردن زودرس; NMD; nonsense-mediated mRNA decay; PTC; premature termination codon; FA; Fanconi anemia; ExSpeU1; exon specific U1; U2AF; U2 auxiliary factor; HSF; human splicing finder; Nonsense codon; Fanconi anemia; Nonsense mediated mRNA decay; U1 small nuclear ribon

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

The relative frequency of CFTR mutation classes in European patients with cystic fibrosis

Keywords: کدون از بین بردن زودرس; CF; Cystic Fibrosis; CFTR; Cystic Fibrosis Transmembrane Conductance Regulator; ECFSPR; European Cystic Fibrosis Society Patient Registry; PTC; premature termination codon; CFTR mutations; Cystic fibrosis; Genotype; Prevalence; CFTR mutation classes; Alle

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

A molecular tool to assess the pathological relevance of alpha-globin DNA variants

Keywords: کدون از بین بردن زودرس; α1-globin; α-thalassaemia; aberrant splice variant; point mutation; premature termination codon; truncated protein;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Nonsense mediated decay of VWF mRNA subsequent to c.7674-7675insC mutation in type3 VWD patients

Keywords: کدون از بین بردن زودرس; Von Willebrand disease; Nonsense mediated mRNA decay; Premature termination codon; Von Willebrand factor

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Treatment of a methylmalonyl-CoA mutase stopcodon mutation

Keywords: کدون از بین بردن زودرس; BAC; bacterial artificial chromosome; DMEM; Dulbecco's Modified Eagle's Medium; DMSO; dimethylsulfoxide; EGFP; enhanced green fluorescent protein; MCM; methylmalonyl-CoA mutase; MMA; methylmalonic aciduria; MUT; human methylmalonyl-CoA mutase gene; Mu

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants

Keywords: کدون از بین بردن زودرس; Cq; quantification cycles; DS; dermatan sulfate; ERT; enzyme replacement therapy; GAGs; glycosaminoglycans; HSCT; hematopoietic stem cell transplantation; HS; heparan sulfate; IDUA; α-l-iduronidase; MPS I; mucopolysaccharidosis type I; PTC; premature ter

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

DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations

Keywords: کدون از بین بردن زودرس; mtDNA; mitochondrial DNA; PEO; progressive external ophthalmoplegia; pol γ; DNA polymerase γ; NRTI; nucleoside reverse-transcriptase inhibitor; ad; autosomal dominant; WT; wild-type; ROS; reactive oxygen species; 8-oxo-dG; 8-oxo-7,8-dihydro-2′-deoxygu

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

Expression levels of Protocadherin-α transcripts are decreased by nonsense-mediated mRNA decay with frameshift mutations and by high DNA methylation in their promoter regions

Keywords: کدون از بین بردن زودرس; B6; C57BL/6; B6xBLG2; intercrossing between B6 and BLG2; CSE; conserved sequence element; CpG; CpG dinucleotide; CR; constant region exon; CTCF; CCCTC-binding factor; EC; extracellular cadherin; EJC; exon-junction complex; gDNA; genomic DNA; IAP; intrac

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2009 سفارش ترجمه

Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216 + 5G > T in the COL7A1 gene results in aberrant and normal splicings

Keywords: کدون از بین بردن زودرس; Anchoring fibrils; Genodermatosis; Premature termination codon; Type VII collagen;

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

Bioinformatic analysis of post-transcriptional regulation by uORF in human and mouse

Keywords: کدون از بین بردن زودرس; ORF; open reading frame; uORF; upstream open reading frame; NMD; nonsense-mediated mRNA decay; PTC; premature termination codon; Upstream open reading frames (uORF); RNA decay; Post-transcription control; 5′ Untranslated region; Kozak consensus;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2007 سفارش ترجمه

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

Keywords: کدون از بین بردن زودرس; CPSI; Nonsense-mediated decay; Splicing defects; RNA; Premature termination codon

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

Genomic organization of the sheep TRG1@ locus and comparative analyses of Bovidae and human variable genes

Keywords: کدون از بین بردن زودرس; PB; bootstrap probability; CDR; complementarity determining regions; C; constant; D; diversity; HV; hypervariable region; J; joining; LP; leader region; MHC; major histocompatibility complex; MP; maximum parsimony method; NJ; neighbor-joining method; NMD;

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2005 سفارش ترجمه

Comparative analyses of sheep and human TRG joining regions: Evolution of J genes in Bovidae is driven by sequence conservation in their promoters for germline transcription

Keywords: کدون از بین بردن زودرس; PB,; bootstrap probability; IMGT Database; immunogenetics information system; IgH; immunoglobulin heavy chain; IL-7; interleukin-7; IL-7R; interleukin-7 receptor; J; joining; MP; maximum parsimony method; NJ; neighbor-joining method; NMD; Nonsense-Mediate

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2005 سفارش ترجمه

Polymorphisms affecting gene regulation and mRNA processing: Broad implications for pharmacogenetics

Keywords: کدون از بین بردن زودرس; 5-FU; 5-fluorouracil; 5-HTT; serotonin transporter; 5-HTTLPR; serotonin gene-linked polymorphic region; 6-MP; 6-mercaptopurine; 6-TG; 6-thioguanine; ABCB; ATP-binding cassette (ABC), subfamily B; ACE; angiotensin I converting enzyme (peptidyl-dipeptidase

دانلود رایگان متن کامل مقاله ISI 20 صفحه سال انتشار : 2005 سفارش ترجمه