Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
about
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferationFacioscapulohumeral dystrophy: the path to consensus on pathophysiologyIntrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHDFacioscapulohumeral dystrophy: incomplete suppression of a retrotransposed geneDNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophyA unifying genetic model for facioscapulohumeral muscular dystrophyThe FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophyDigenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Genetics. Exposing a DUX tale.Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiationMyogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.Human skeletal muscle xenograft as a new preclinical model for muscle disordersSubtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline.A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivoExpression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patternsMyoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defectsDNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoliAsymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophyClinical features of facioscapulohumeral muscular dystrophy 2.Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgeneComprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.High-throughput sequencing of microdissected chromosomal regions.New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with diseaseGenome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions.The role of genetics in the establishment and maintenance of the epigenome.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
P2860
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P2860
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Specific sequence variations w ...... pulohumeral muscular dystrophy
@ast
Specific sequence variations w ...... pulohumeral muscular dystrophy
@en
Specific sequence variations w ...... pulohumeral muscular dystrophy
@nl
type
label
Specific sequence variations w ...... pulohumeral muscular dystrophy
@ast
Specific sequence variations w ...... pulohumeral muscular dystrophy
@en
Specific sequence variations w ...... pulohumeral muscular dystrophy
@nl
prefLabel
Specific sequence variations w ...... pulohumeral muscular dystrophy
@ast
Specific sequence variations w ...... pulohumeral muscular dystrophy
@en
Specific sequence variations w ...... pulohumeral muscular dystrophy
@nl
P2093
P2860
P3181
P356
P1476
Specific sequence variations w ...... pulohumeral muscular dystrophy
@en
P2093
Corrie M M van Teijlingen
George W Padberg
Kristiaan J van der Gaag
Marielle Wohlgemuth
Patrick J van der Vliet
Richard J L F Lemmers
Rune R Frants
Silvere M van der Maarel
P2860
P304
P3181
P356
10.1086/521986
P407
P577
2007-11-01T00:00:00Z