A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.
about
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxationInfluence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic CellsDigenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2DUX4 and DUX4 downstream target genes are expressed in fetal FSHD musclesThe D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivoNew multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?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 diseaseIdentification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.Therapeutic advances in muscular dystrophyFacioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy.Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers.Epigenetic alterations in muscular disordersAntisense targeting of 3' end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach.Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.
P2860
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P2860
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
A large patient study confirmi ...... 4qA-defined 4qter subtelomere.
@en
A large patient study confirming that facioscapulohumeral muscular dystrophy
@nl
type
label
A large patient study confirmi ...... 4qA-defined 4qter subtelomere.
@en
A large patient study confirming that facioscapulohumeral muscular dystrophy
@nl
prefLabel
A large patient study confirmi ...... 4qA-defined 4qter subtelomere.
@en
A large patient study confirming that facioscapulohumeral muscular dystrophy
@nl
P2093
P2860
P356
P1476
A large patient study confirmi ...... 4qA-defined 4qter subtelomere.
@en
P2093
G Spurlock
M MacDonald
M Upadhyaya
N S T Thomas
P2860
P304
P356
10.1136/JMG.2006.042804
P407
P50
P577
2006-09-20T00:00:00Z