Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
about
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesGuidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsnagnag: Identification and quantification of NAGNAG alternative splicing using RNA-Seq data.Alteration of protein function by a silent polymorphism linked to tRNA abundance.Alternative splicing of RNA triplets is often regulated and accelerates proteome evolution.Assessing the Disease-Liability of Mutations in CFTRThe cystic fibrosis gene: a molecular genetic perspectiveAlternative splicing of transcription factors in plant responses to low temperature stress: mechanisms and functions.Development of Automated Patch Clamp Technique to Investigate CFTR Chloride Channel Function.Gene mutations associated with anomalies of human gonad formation.The roles of RNA processing in translating genotype to phenotypeAlternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
P2860
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P2860
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
@ast
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
@en
type
label
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
@ast
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
@en
prefLabel
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
@ast
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
@en
P2093
P2860
P1433
P1476
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
@en
P2093
Abdel Aissat
Agathe Tarze
Alexandre Hinzpeter
Alix de Becdelièvre
Bruno Costes
Catherine Costa
Christine Gameiro
Elvira Sondo
Emmanuelle Girodon
Laurence Weiss
P2860
P356
10.1371/JOURNAL.PGEN.1001153
P577
2010-10-07T00:00:00Z