Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution
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Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyFacioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesisA unifying genetic model for facioscapulohumeral muscular dystrophyInfluence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic CellsThe FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1Digenic 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.Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.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.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseHemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologsDiagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.Genetic and epigenetic contributors to FSHD.Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients.The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophyFacioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?Deciphering transcription dysregulation in FSH muscular dystrophy.Round cell sarcomas beyond Ewing: emerging entities.Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.High prevalence of CIC fusion with double-homeobox (DUX4) transcription factors in EWSR1-negative undifferentiated small blue round cell sarcomas.Evolution of DUX gene macrosatellites in placental mammals.Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy.Evaluation of ETV4 and WT1 expression in CIC-rearranged sarcomas and histologic mimics.A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD.Facioscapulohumeral Muscular Dystrophy.Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.Facioscapulohumeral Muscular Dystrophy.
P2860
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P2860
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Worldwide population analysis ...... e transfers in human evolution
@en
Worldwide population analysis ...... transfers in human evolution.
@nl
type
label
Worldwide population analysis ...... e transfers in human evolution
@en
Worldwide population analysis ...... transfers in human evolution.
@nl
prefLabel
Worldwide population analysis ...... e transfers in human evolution
@en
Worldwide population analysis ...... transfers in human evolution.
@nl
P2093
P2860
P1476
Worldwide population analysis ...... e transfers in human evolution
@en
P2093
Kristiaan J van der Gaag
Patrick J van der Vliet
Richard J L F Lemmers
Rune R Frants
Sofia Zuniga
P2860
P304
P356
10.1016/J.AJHG.2010.01.035
P407
P577
2010-03-04T00:00:00Z