Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.
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Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissuesDiverse mutations in patients with Menkes disease often lead to exon skippingAntisense-mediated exon skipping: a versatile tool with therapeutic and research applicationsLow incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.Dystrophin isoform induction in vivo by antisense-mediated alternative splicing.Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis.RNA therapeutics: beyond RNA interference and antisense oligonucleotides.In-frame dystrophin following exon 51-skipping improves muscle pathology and function in the exon 52-deficient mdx mouse.Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through.Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.Exon-skipping therapy: a roadblock, detour, or bump in the road?A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophyModulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF.The cardiac troponin T alternative exon contains a novel purine-rich positive splicing elementCooperation of pre-mRNA sequence elements in splice site selection.Development of multiexon skipping antisense oligonucleotide therapy for Duchenne muscular dystrophyDisruption 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.Gene-based therapies of neuromuscular disorders: an update and the pivotal role of patient organizations in their discovery and implementation.LC-MS of oligonucleotides: applications in biomedical research.Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-α2 chain-null congenital muscular dystrophy mice.Evidence of gene deletion of p21 (WAF1/CIP1), a cyclin-dependent protein kinase inhibitor, in thyroid carcinomas.Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.An intact cysteine-rich domain is required for dystrophin function.Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit.Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification.Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin.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.Association of a missense mutation of the laminin alpha2 gene with tuberculoid type of leprosy in Indonesian patients.Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.Contrast-Enhanced Near-Infrared Optical Imaging Detects Exacerbation and Amelioration of Murine Muscular Dystrophy.Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
P2860
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P2860
Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@ast
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@en
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@nl
type
label
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@ast
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@en
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@nl
prefLabel
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@ast
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@en
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@nl
P2093
P2860
P356
P1476
Exon skipping during splicing ...... henne muscular dystrophy kobe.
@en
P2093
Masumura T
Nakajima T
Nakamura H
P2860
P304
P356
10.1172/JCI115244
P407
P577
1991-06-01T00:00:00Z