Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
about
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophyPelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variantThe subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brainPrimary role of functional ischemia, quantitative evidence for the two-hit mechanism, and phosphodiesterase-5 inhibitor therapy in mouse muscular dystrophyAnimal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapySpontaneous opening of the acetylcholine receptor channel in developing muscle cells from normal and dystrophic miceDetection of dystrophin in the postsynaptic density of rat brain and deficiency in a mouse model of Duchenne muscular dystrophyDystrophin is transcribed in brain from a distant upstream promoter.Guanine analogues enhance antisense oligonucleotide-induced exon skipping in dystrophin gene in vitro and in vivo.Asymmetric distribution of dystrophin in developing and adult Torpedo marmorata electrocyte: evidence for its association with the acetylcholine receptor-rich membrane.Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.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.Dilated cardiomyopathy and the dystrophin gene: an illustrated reviewLaminins and human disease.The molecular neuropathology of the muscular dystrophies: a review and update.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.Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.Myotubes from transgenic mdx mice expressing full-length dystrophin show normal calcium regulation.Experimental models of duchenne muscular dystrophy: relationship with cardiovascular disease.Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophyExploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophyScientific frontiers: emerging technologies for salivary diagnostics.Whole body periodic acceleration is an effective therapy to ameliorate muscular dystrophy in mdx mice.Genitourinary health in a population-based cohort of males with Duchenne and Becker Muscular dystrophiesDelineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Elevated subsarcolemmal Ca2+ in mdx mouse skeletal muscle fibers detected with Ca2+-activated K+ channels.Feline muscular dystrophy with dystrophin deficiency.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 dystrophySequence similarity of the amino-terminal domain of Drosophila beta spectrin to alpha actinin and dystrophinMammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH terminus.Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparingLocalization of dystrophin relative to acetylcholine receptor domains in electric tissue and adult and cultured skeletal muscle.Localization of dystrophin gene transcripts during mouse embryogenesis.
P2860
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P2860
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
description
1989 nî lūn-bûn
@nan
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
1989年论文
@zh
1989年论文
@zh-cn
name
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
@en
type
label
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
@en
prefLabel
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
@en
P1433
P1476
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
@en
P2093
P304
P356
10.1016/0896-6273(89)90226-2
P407
P577
1989-01-01T00:00:00Z