The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
about
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouseEnhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapyLocal restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction siteRecent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trialsCurrent and emerging treatment strategies for Duchenne muscular dystrophyNonsense-mediated mRNA decay among coagulation factor genesDystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophiesNoncoding RNAs: emerging players in muscular dystrophiesOligonucleotide Therapies: The Past and the PresentProteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathyThe role of oxidative stress in skeletal muscle injury and regeneration: focus on antioxidant enzymesIdentification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screeningComparative analysis of the human dystrophin and utrophin gene structuresThe Dystrophin Complex: Structure, Function, and Implications for TherapyEfficient Restoration of the Dystrophin Gene Reading Frame and Protein Structure in DMD Myoblasts Using the CinDel Method.Molecular biology of neurological diseases.A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skippingDystrophin is a component of the subsynaptic membrane.Dystrophin is transcribed in brain from a distant upstream promoter.A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.Guanine analogues enhance antisense oligonucleotide-induced exon skipping in dystrophin gene in vitro and in vivo.The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.A TaqI map of the dystrophin gene useful for deletion and carrier status analysisScreening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.Dystrophin analysis in idiopathic dilated cardiomyopathy.Deletions in the 5' region of dystrophin and resulting phenotypes.A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophySex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysisDetermination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy.
P2860
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P2860
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
description
1989 nî lūn-bûn
@nan
1989 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
The molecular basis for Duchen ...... severity with type of deletion
@ast
The molecular basis for Duchen ...... severity with type of deletion
@en
type
label
The molecular basis for Duchen ...... severity with type of deletion
@ast
The molecular basis for Duchen ...... severity with type of deletion
@en
prefLabel
The molecular basis for Duchen ...... severity with type of deletion
@ast
The molecular basis for Duchen ...... severity with type of deletion
@en
P2093
P2860
P1476
The molecular basis for Duchen ...... severity with type of deletion
@en
P2093
A E Covone
A de la Chapellet
B T Darras
C R Greenberg
C R Müller
G J van Ommen
P2860
P304
P407
P577
1989-10-01T00:00:00Z