Clinical features of facioscapulohumeral muscular dystrophy 2. - Wikidata - wikimedia - TriplyDB

Clinical features of facioscapulohumeral muscular dystrophy 2.

Clinical features of facioscapulohumeral muscular dystrophy 2.

http://www.wikidata.org/entity/Q34281836

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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 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 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.Facioscapulohumeral Dystrophy.Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns The FSHD atrophic myotube phenotype is caused by DUX4 expression.Restrictive lung involvement in facioscapulohumeral muscular dystrophy A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35).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.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy miRNA expression in control and FSHD fetal human muscle biopsies Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease Hemizygosity 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 homologs Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD Genetic and epigenetic contributors to FSHD.

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P2860

Clinical features of facioscapulohumeral muscular dystrophy 2.

http://www.wikidata.org/entity/Q34281836

description

2010 nî lūn-bûn

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2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Clinical features of facioscapulohumeral muscular dystrophy 2.

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Clinical features of facioscapulohumeral muscular dystrophy 2.

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Clinical features of facioscapulohumeral muscular dystrophy 2.

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Clinical features of facioscapulohumeral muscular dystrophy 2.

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Clinical features of facioscapulohumeral muscular dystrophy 2.

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Clinical features of facioscapulohumeral muscular dystrophy 2.

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Clinical features of facioscapulohumeral muscular dystrophy 2.

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Clinical features of facioscapulohumeral muscular dystrophy 2

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A L Rosa

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B G M van Engelen

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C Desnuelle

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G W Padberg

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R J L F Lemmers

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R R Frants

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P2860

Specific sequence variations within the 4q35 region are associated with 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

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

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

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.

Significance of Beevor's sign in facioscapulohumeral dystrophy and other neuromuscular diseases

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