Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.

Item
http://www.wikidata.org/entity/Q41936967
Interplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouseTwo novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.MeCP2 regulates Tet1-catalyzed demethylation, CTCF binding, and learning-dependent alternative splicing of the BDNF gene in Turtle.Genomic features defining exonic variants that modulate splicing.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.FUBP1: a new protagonist in splicing regulation of the DMD geneNormal and altered pre-mRNA processing in the DMD gene.A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.Functional analysis of splicing mutations in MYO7A and USH2A genes.Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
P2860

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.

Item
http://www.wikidata.org/entity/Q41936967
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Splicing analysis disclosed a ...... letion in the dystrophin gene.
@en
type
label
Splicing analysis disclosed a ...... letion in the dystrophin gene.
@en
prefLabel
Splicing analysis disclosed a ...... letion in the dystrophin gene.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Splicing analysis disclosed a ...... letion in the dystrophin gene.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932