A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
about
Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function.DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsAn intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breedSERpredict: detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements.A birth of bipartite exon by intragenic deletionBcl-rambo beta, a special splicing variant with an insertion of an Alu-like cassette, promotes etoposide- and Taxol-induced cell death.Molecular diagnosis of myocardial disease.Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.Dilated cardiomyopathy: a tale of cytoskeletal proteins and beyond.Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome.5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genomeLessons from non-canonical splicingExercise and muscular dystrophy: implications and analysis of effects on musculoskeletal and cardiovascular systems.Deep intronic mutations and human disease.Normal and altered pre-mRNA processing in the DMD gene.Emergent dilated cardiomyopathy caused by targeted repair of dystrophic skeletal muscleA novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication.Mobile Elements in the Human Genome: Implications for Disease
P2860
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P2860
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@ast
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@en
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@nl
type
label
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@ast
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@en
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@nl
prefLabel
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@ast
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@en
A novel Alu-like element rearr ...... linked dilated cardiomyopathy.
@nl
P2093
P2860
P356
P1476
A novel Alu-like element rearr ...... -linked dilated cardiomyopathy
@en
P2093
P2860
P304
P356
10.1086/301952
P407
P577
1998-08-01T00:00:00Z