دانلود مقالات ISI درباره Nonsense-Mediated Mrna Decay (Nmd) + ترجمه فارسی

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability

Keywords: Spastic paraplegia type 31 (SPG31); Receptor expression-enhancing protein 1 (REEP1); Splice site donor variant; Nonsense-mediated mRNA decay (NMD); Phenotype variability; Asymptomatic carrier;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

Molecular cloning of novel transcripts of the adaptor-related protein complex 2 alpha 1 subunit (AP2A1) gene, using Next-Generation Sequencing

Keywords: AP; adaptor-related protein; AP2A1; adaptor-related protein complex 2 alpha 1 subunit; IGV; Integrative Genomics Viewer; ISP; Ion Sphere™ Particle; NGS; Next-Generation Sequencing; NMD; nonsense-mediated mRNA decay; PCR; polymerase chain reaction; PTC;

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

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Keywords: Spastic paraplegia type 4 (SPG4); SPAST; Splice site donor variant; Nonsense-Mediated mRNA Decay (NMD); Phenotype variability;

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

The role of alternative splicing coupled to nonsense-mediated mRNA decay in human disease

Keywords: Alternative splicing (AS); Nonsense-mediated mRNA decay (NMD); AS coupled to NMD (AS-NMD); Post-transcriptional control of gene expression; Human disease;

دانلود رایگان متن کامل مقاله ISI 28 صفحه سال انتشار : 2017 سفارش ترجمه

Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay

Keywords: Protein C deficiency; PROC; Nonsense mutation; Premature termination codons (PTCs); Nonsense-mediated mRNA decay (NMD);

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

Environmental Stresses Modulate Abundance and Timing of Alternatively Spliced Circadian Transcripts in Arabidopsis

Keywords: Arabidopsis; alternative splicing; circadian clock; intron retention; nonsense-mediated mRNA decay (NMD); environmental stress

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2015 سفارش ترجمه

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia

Keywords: Paroxysmal Kinesigenic Dyskinesia (PKD); Proline-rich transmembrane protein 2 (PRRT2); Nonsense-mediated mRNA decay (NMD); Regulator of nonsense transcripts 1(UPF1);

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

Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II

Keywords: hypofibrinogenemia; nonsense-mediated mRNA decay (NMD); quantitative RT-PCR

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

Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: Role of alternative splicing and nonsense-mediated mRNA decay

Keywords: GM2 gangliosidosis; Tay-Sachs disease (TSD); β-hexosaminidase (Hex A); HEXA gene; Exonic mutation; Exon skipping; Premature termination codons (PTCs); Nonsense-mediated mRNA decay (NMD)

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

Identification of a novel frameshift mutation at codon 53 (−T) in the β-globin gene causing dominantly inherited β-thalassemia in a Chinese Miao family

Keywords: Dominantly inherited β-thalassemia; Frameshift mutation; β-thalassemia intermedia; Haplotype; β-globin gene; Nonsense-mediated mRNA decay (NMD)

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