Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy - sprookjes - yvandenbroek - TriplyDB

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

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

http://www.wikidata.org/entity/Q24655776

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DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation Facioscapulohumeral dystrophy: the path to consensus on pathophysiology Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2 Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy A unifying genetic model for 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 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 SMCHD1 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 differentiation 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.Human skeletal muscle xenograft as a new preclinical model for muscle disorders Subtelomeric 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 vivo Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects DNA 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 nucleoli Asymmetric 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 dystrophy Clinical features of facioscapulohumeral muscular dystrophy 2.Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene Comprehensive 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 disease Genome-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

http://www.wikidata.org/entity/Q24655776

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

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2007年論文

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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

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Specific sequence variations w ...... pulohumeral muscular dystrophy

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P1433

American Journal of Human Genetics

P1476

Specific sequence variations w ...... pulohumeral muscular dystrophy

@en

P2093

Corrie M M van Teijlingen

http://www.w3.org/2001/XMLSchema#string

George W Padberg

http://www.w3.org/2001/XMLSchema#string

Kristiaan J van der Gaag

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Marielle Wohlgemuth

http://www.w3.org/2001/XMLSchema#string

Patrick J van der Vliet

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Richard J L F Lemmers

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Rune R Frants

http://www.w3.org/2001/XMLSchema#string

Silvere M van der Maarel

http://www.w3.org/2001/XMLSchema#string

P2860

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

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

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

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Inappropriate Gene Activation in FSHD

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

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.

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.

P304

884-94

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scholarly article

P3181

3518843

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P356

10.1086/521986

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P407

P433

5

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P478

81

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P50

Peter de Knijff

P577

2007-11-01T00:00:00Z

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P5875

5921392

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P698

17924332

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P921

facioscapulohumeral muscular dystrophy

P932

2265642

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