hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
about
Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms.A glycine-rich domain of hnRNP H/F promotes nucleocytoplasmic shuttling and nuclear import through an interaction with transportin 1.Naturally occurring variants of human Α9 nicotinic receptor differentially affect bronchial cell proliferation and transformation.HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform.Gibbon genome and the fast karyotype evolution of small apes.Identification of cis-acting elements and splicing factors involved in the regulation of BIM Pre-mRNA splicingGenetic parameters for predicted methane production and laser methane detector measurements.SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndromeThe Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in CancerHigh-throughput analyses of hnRNP H1 dissects its multi-functional aspect.Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndromeLarge-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes.Protein and gene expression characteristics of heterogeneous nuclear ribonucleoprotein H1 in esophageal squamous cell carcinoma.Nicotinic acetylcholine receptors in human genetic disease.Site-specific methylated reporter constructs for functional analysis of DNA methylation.Position-specific binding of FUS to nascent RNA regulates mRNA length.Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction.HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.Frequent gain and loss of intronic splicing regulatory elements during the evolution of vertebrates.SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein.Specific G-quadruplex ligands modulate the alternative splicing of Bcl-X.Rules and tools to predict the splicing effects of exonic and intronic mutations.The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
P2860
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P2860
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 20 September 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
hnRNP H enhances skipping of a ...... congenital myasthenic syndrome
@en
hnRNP H enhances skipping of a ...... ongenital myasthenic syndrome.
@nl
type
label
hnRNP H enhances skipping of a ...... congenital myasthenic syndrome
@en
hnRNP H enhances skipping of a ...... ongenital myasthenic syndrome.
@nl
prefLabel
hnRNP H enhances skipping of a ...... congenital myasthenic syndrome
@en
hnRNP H enhances skipping of a ...... ongenital myasthenic syndrome.
@nl
P2093
P2860
P356
P1476
hnRNP H enhances skipping of a ...... congenital myasthenic syndrome
@en
P2093
Akio Masuda
Andrew G Engel
Mikako Ito
Tohru Matsuura
Xin-Ming Shen
P2860
P304
P356
10.1093/HMG/DDN305
P50
P577
2008-09-20T00:00:00Z