SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.

Item
http://www.wikidata.org/entity/Q39625401
Exon first nucleotide mutations in splicing: evaluation of in silico prediction toolsGuidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsTargeting SR proteins improves SMN expression in spinal muscular atrophy cells.Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.hnRNP A1: the Swiss army knife of gene expression.Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.Tandem hnRNP A1 RNA recognition motifs act in concert to repress the splicing of survival motor neuron exon 7.Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.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.Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes.
P2860

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.

Item
http://www.wikidata.org/entity/Q39625401
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
SMN2 exon 7 splicing is inhibi ...... that spans the 3' splice site.
@en
SMN2 exon 7 splicing is inhibi ...... that spans the 3' splice site.
@nl
type
label
SMN2 exon 7 splicing is inhibi ...... that spans the 3' splice site.
@en
SMN2 exon 7 splicing is inhibi ...... that spans the 3' splice site.
@nl
prefLabel
SMN2 exon 7 splicing is inhibi ...... that spans the 3' splice site.
@en
SMN2 exon 7 splicing is inhibi ...... that spans the 3' splice site.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
SMN2 exon 7 splicing is inhibi ...... that spans the 3' splice site.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698