Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 - Test2 - elhamkhani - TriplyDB

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD Genetic variation and the de novo assembly of human genomes Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities Somatic mosaicism: implications for disease and transmission genetics Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy Facioscapulohumeral Dystrophy.β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1)Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.Myogenic 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.A novel tRNA variable number tandem repeat at human chromosome 1q23.3 is implicated as a boundary element based on conservation of a CTCF motif in mouse.An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouse DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene A review of 18p deletions.Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.Molecular findings among patients referred for clinical whole-exome sequencing.Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy miRNA expression in control and FSHD fetal human muscle biopsies

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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

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2012 nî lūn-bûn

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2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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Digenic inheritance of an SMCH ...... eral muscular dystrophy type 2

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Digenic inheritance of an SMCH ...... eral muscular dystrophy type 2

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Digenic inheritance of an SMCH ...... eral muscular dystrophy type 2

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Nature Genetics

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Digenic inheritance of an SMCH ...... eral muscular dystrophy type 2

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Amanda M Amell

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Annemieke M Aartsma-Rus

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Baziel G M van Engelen

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Claude Desnuelle

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Colleen M Donlin-Smith

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Galina N Filippova

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George W Padberg

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Gijs W E Santen

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Gregory J Block

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Jessica C de Greef

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P2860

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

A new mathematical model for relative quantification in real-time RT-PCR

Mutation of YCS4, a budding yeast condensin subunit, affects mitotic and nonmitotic chromosome behavior.

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

DPY-27:a chromosome condensation protein homolog that regulates C. elegans dosage compensation through association with the X chromosome

A unifying genetic model for facioscapulohumeral muscular dystrophy

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1370-1374

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10.1038/NG.2454

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12

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44

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Marianne de Visser

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Sabrina Sacconi

Silvère M van der Maarel

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2012-11-11T00:00:00Z

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233395785

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1045533804

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23143600

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facioscapulohumeral muscular dystrophy

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3671095

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