FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit - Wikidata - awgldk - TriplyDB

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

http://www.wikidata.org/entity/Q29398634

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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 Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients Noncoding RNAs, Emerging Regulators of Skeletal Muscle Development and Diseases Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Purification and characterization of an alpha-actinin-binding PDZ-LIM protein that is up-regulated during muscle differentiation Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis A unifying genetic model for facioscapulohumeral muscular dystrophy Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells Actinin-associated LIM protein-deficient mice maintain normal development and structure of skeletal muscle Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2).A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy.The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).Human skeletal muscle xenograft as a new preclinical model for muscle disorders Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome.Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites.Testing the effects of FSHD candidate gene expression in vertebrate muscle development.DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy.Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.Cloning and characterization of glutamate receptors in Californian sea lions (Zalophus californianus)The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy

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P2860

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

http://www.wikidata.org/entity/Q29398634

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1993 nî lūn-bûn

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1993 թուականին հրատարակուած գիտական յօդուած

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1993 թվականին հրատարակված գիտական հոդված

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1993年の論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年论文

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FSHD associated DNA rearrangem ...... 3.2 kb tandemly repeated unit

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FSHD associated DNA rearrangem ...... 3.2 kb tandemly repeated unit

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FSHD associated DNA rearrangem ...... 3.2 kb tandemly repeated unit

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FSHD associated DNA rearrangem ...... 3.2 kb tandemly repeated unit

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FSHD associated DNA rearrangem ...... 3.2 kb tandemly repeated unit

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FSHD associated DNA rearrangem ...... 3.2 kb tandemly repeated unit

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Human Molecular Genetics

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FSHD associated DNA rearrangem ...... 3.2 kb tandemly repeated unit

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Anne-Marie Gruter

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Cisca Wljmenga

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Esther A.E.Van Tlenhoven

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George W. Padberg

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Gert-Jan. B.van Ommen

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Jane E. Hewitt

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Judith C.T.Van Deutekom

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Marten H. Hofker

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Rune R. Fronts

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2037-2042

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scholarly article

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1778316

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10.1093/HMG/2.12.2037

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12

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2

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1993-01-01T00:00:00Z

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8111371

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