Population-based incidence and prevalence of facioscapulohumeral dystrophy - Wikidata - awgldk - TriplyDB

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Population-based incidence and prevalence of facioscapulohumeral dystrophy

http://www.wikidata.org/entity/Q28245908

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Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways 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.Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy.Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Emerging preclinical animal models for FSHD.Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.DNA-binding sequence specificity of DUX4.CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy.Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy.Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD).Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.Gene therapy in monogenic congenital myopathies.Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study.What's in a name? The clinical features of facioscapulohumeral muscular dystrophy.A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles.Emerging new tools to study and treat muscle pathologies: genetics and molecular mechanisms underlying skeletal muscle development, regeneration, and disease.Direct interplay between two candidate genes in FSHD muscular dystrophy.Are Antioxidants a Potential Therapy for FSHD? A Review of the Literature Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model.PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle.

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P2860

Population-based incidence and prevalence of facioscapulohumeral dystrophy

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2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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André L M Verbeek

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Baziel G M van Engelen

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Egbert Bakker

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George W Padberg

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Stephanie S Weinreich

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P2860

A unifying genetic model for facioscapulohumeral muscular dystrophy

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

The Dutch neuromuscular database CRAMP (Computer Registry of All Myopathies and Polyneuropathies): development and preliminary data.

Prevalence, incidence and duration.

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