Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
about
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applicationsIkaros gene expression and leukemiaDisruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec familyInterplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouseIdentification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screeningTwo novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent mannerCategorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cellsPersonalized exon skipping strategies to address clustered non-deletion dystrophin mutations.Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expressionInterplay 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 geneEarly-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27Loss of exon identity is a common mechanism of human inherited disease.A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophyMassive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion.Hematopoietic cell transplantation provides an immune-tolerant platform for myoblast transplantation in dystrophic dogsBRCA2 T2722R is a deleterious allele that causes exon skipping.Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.Normal and altered pre-mRNA processing in the DMD gene.Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.Aberrant HS1 molecule in a patient with systemic lupus erythematosus.Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.Nonsense-associated altered splicing of the Patched gene fails to suppress carcinogenesis in Gorlin syndrome.Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.Engineering specificity changes on a RanBP2 zinc finger that binds single-stranded RNA.C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene.A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.The cold, hard truth about pediatric research
P2860
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P2860
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh
1997年學術文章
@zh-hant
name
Disruption of the splicing enh ...... for Becker muscular dystrophy.
@en
Disruption of the splicing enh ...... for Becker muscular dystrophy.
@nl
type
label
Disruption of the splicing enh ...... for Becker muscular dystrophy.
@en
Disruption of the splicing enh ...... for Becker muscular dystrophy.
@nl
prefLabel
Disruption of the splicing enh ...... for Becker muscular dystrophy.
@en
Disruption of the splicing enh ...... for Becker muscular dystrophy.
@nl
P2093
P2860
P356
P1476
Disruption of the splicing enh ...... for Becker muscular dystrophy.
@en
P2093
Sakamoto H
Takeshima Y
Yokoyama M
P2860
P304
P356
10.1172/JCI119757
P407
P577
1997-11-01T00:00:00Z