Deciphering transcription dysregulation in FSH muscular dystrophy

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Journal of Human Genetics

• Publication date

  2012-06-21

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/jhg.2012.74PMID 22718021PMCID PMC3562129
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Zscan4 transiently reactivates early embryonic genes during the generation of induced pluripotent stem cells

  2012cited by this paper
• Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

  2012cited by this paper
• DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

  2012cited by this paper
• Cdx function is required for maintenance of intestinal identity in the adult.

  2012cited by this paper
• Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

  2012cited by this paper
• CD8+ T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI

  2011cited by this paper
• Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?

  2011cited by this paper
• The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

  2011cited by this paper
• Gene expression during normal and FSHD myogenesis

  2011cited by this paper
• Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

  2011cited by this paper
• The muscle satellite cell at 50: the formative years

  2011cited by this paper
• Excitation-transcription coupling in skeletal muscle: the molecular pathways of exercise

  2011cited by this paper
• Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy

  2011cited by this paper
• HP1 Recruits Activity-Dependent Neuroprotective Protein to H3K9me3 Marked Pericentromeric Heterochromatin for Silencing of Major Satellite Repeats

  2011cited by this paper
• DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53‐dependent myopathy in vivo

  2011cited by this paper
• Expression Profiling of FSHD-1 and FSHD-2 Cells during Myogenic Differentiation Evidences Common and Distinctive Gene Dysregulation Patterns

  2011cited by this paper
• A genetic approach to the transcriptional regulation of Hox gene clusters.

  2011cited by this paper
• Impact of ageing on muscle cell regeneration.

  2011cited by this paper
• A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function

  2011cited by this paper
• Oscillatory Protein Expression Dynamics Endows Stem Cells with Robust Differentiation Potential

  2011cited by this paper
• The Rhox genes.

  2010cited by this paper
• Epigenetic control of Hox genes during neurogenesis, development, and disease.

  2010cited by this paper
• Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.

  2010cited by this paper
• Taf1 regulates Pax3 protein by monoubiquitination in skeletal muscle progenitors.

  2010cited by this paper
• microRNA-1 and microRNA-206 regulate skeletal muscle satellite cell proliferation and differentiation by repressing Pax7

  2010cited by this paper
• Extrinsic regulation of satellite cell specification

  2010cited by this paper
• Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl

  2010cited by this paper
• FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease

  2010cited by this paper
• A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene

  2010cited by this paper
• A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

  2010cited by this paper
• Hes1 regulates embryonic stem cell differentiation by suppressing Notch signaling

  2010cited by this paper
• Creutzfeldt–Jakob disease presenting as bulbar palsy

  2010cited by this paper
• Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

  2010cited by this paper
• Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

  2010cited by this paper
• Retention of Pax3 Expression in Satellite Cells of Muscle Spindles

  2010cited by this paper
• Hox genes and regional patterning of the vertebrate body plan.

  2010cited by this paper
• Loss of epigenetic silencing in tumors preferentially affects primate-specific retroelements.

  2009cited by this paper
• DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2

  2009cited by this paper
• Adult satellite cells and embryonic muscle progenitors have distinct genetic requirements

  2009cited by this paper
• FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy

  2009cited by this paper
• MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences

  2009cited by this paper
• Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study.

  2009cited by this paper
• Common epigenetic changes of D4Z4 in contraction‐dependent and contraction‐independent FSHD

  2009cited by this paper
• Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

  2009cited by this paper
• Epigenetic regulation of vertebrate Hox genes: A dynamic equilibrium

  2009cited by this paper
• RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

  2009cited by this paper
• Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers

  2009cited by this paper
• Hox specificity unique roles for cofactors and collaborators.

  2009cited by this paper
• Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

  2009cited by this paper
• The role of transcription factor Pitx3 in dopamine neuron development and Parkinson's disease.

  2009cited by this paper
• Function and specificity of Hox genes.

  2009cited by this paper
• Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy.

  2009cited by this paper
• Exploring and exploiting microbial diversity through metagenomics for natural product drug discovery.

  2009cited by this paper
• Transcriptional heterogeneity in mouse embryonic stem cells.

  2009cited by this paper
• HYPOMETHYLATION IS RESTRICTED TO THE D 4 Z 4 REPEAT ARRAY IN PHENOTYPIC

  2009cited by this paper
• Faculty Opinions recommendation of Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

  2009cited by this paper
• Facioscapulohumeral muscular dystrophy

  2008cited by this paper
• An isogenetic myoblast expression screen identifies DUX4‐mediated FSHD‐associated molecular pathologies

  2008cited by this paper
• Connective tissue growth factor is overexpressed in muscles of human muscular dystrophy.

  2008cited by this paper
• DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation.

  2008cited by this paper
• An in situ hybridization-based screen for heterogeneously expressed genes in mouse ES cells.

  2008cited by this paper
• Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects

  2008cited by this paper
• Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

  2007cited by this paper
• Transcriptional activation of p53 by Pitx1

  2007cited by this paper
• Cochlear Function in Facioscapulohumeral Muscular Dystrophy

  2007cited by this paper
• The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein.

  2007cited by this paper
• Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.

  2007cited by this paper
• Facioscapulohumeral muscular dystrophy.

  2007cited by this paper
• Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.

  2007cited by this paper
• Zscan4: a novel gene expressed exclusively in late 2-cell embryos and embryonic stem cells.

  2007cited by this paper
• RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA.

  2007cited by this paper
• DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

  2007cited by this paper
• Expression Profiling of Immature Thymocytes Revealed a Novel Homeobox Gene That Regulates Double-Negative Thymocyte Development1

  2007cited by this paper
• Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

  2007cited by this paper
• Analysis of the genetic interactions between Cyclin A1, Atm and p53 during spermatogenesis.

  2007cited by this paper
• Endocrine regulation of HOX genes.

  2006cited by this paper
• Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

  2006cited by this paper
• Non-coding RNA.

  2006cited by this paper
• Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy

  2006cited by this paper
• Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD‐dependent genes

  2006cited by this paper
• Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle

  2005cited by this paper
• Ventilatory support in facioscapulohumeral muscular dystrophy

  2005cited by this paper
• Ventilatory support in facioscapulohumeral muscular dystrophy. Authors' reply

  2005cited by this paper
• Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD)

  2004cited by this paper
• FSHD-like patients without 4q35 deletion.

  2004cited by this paper
• Cellular and molecular regulation of muscle regeneration.

  2004cited by this paper
• A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment.

  2004cited by this paper
• Ventilatory support in facioscapulohumeral muscular dystrophy

  2004cited by this paper
• Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.

  2003cited by this paper
• Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

  2003cited by this paper
• Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle.

  2002cited by this paper
• Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients

  2002cited by this paper
• Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues.

  2001cited by this paper
• An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy

  2000cited by this paper
• Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy.

  1999cited by this paper
• Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.

  1999cited by this paper
• The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.

  1996cited by this paper
• Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

  1996cited by this paper
• DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations.

  1995cited by this paper
• The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.

  1995cited by this paper

• Zscan4 as a Candidate Conveyor of Early Developmental Defects in O-GlcNAc Transferase Intellectual Disability

  2025influential citation
• Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

  2020cites this paper
• Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei

  2018cites this paper
• Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases.

  2014cites this paper
• Early de novo DNA methylation and prolonged demethylation in the muscle lineage

  2013cites this paper
• DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?

  2012cites this paper