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AMERICAN JOURNAL OF HUMAN GENETICS (2016)
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Direct interplay between two candidate genes in FSHD muscular dystrophy
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HUMAN MOLECULAR GENETICS (2015)
β-catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy
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Double homeobox gene, Duxbl, promotes myoblast proliferation and abolishes myoblast differentiation by blocking MyoD transactivation
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DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
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HUMAN MOLECULAR GENETICS (2014)
Myogenic Enhancers Regulate Expression of the Facioscapulohumeral Muscular Dystrophy-Associated DUX4 Gene
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Population-based incidence and prevalence of facioscapulohumeral dystrophy
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Facioscapulohumeral dystrophy: the path to consensus on pathophysiology
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Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy
Hiroaki Mitsuhashi et al.
HUMAN MOLECULAR GENETICS (2013)
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
Gregory J. Block et al.
HUMAN MOLECULAR GENETICS (2013)
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
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JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2013)
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DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis
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PLOS GENETICS (2013)
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD
Yvonne D. Krom et al.
PLOS GENETICS (2013)
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy
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PLOS GENETICS (2013)
A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
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Satellite cells are essential for skeletal muscle regeneration: the cell on the edge returns centre stage
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DUX4 Activates Germ line Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy
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DEVELOPMENTAL CELL (2012)
Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35)
Marta Giussani et al.
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Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
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HUMAN MOLECULAR GENETICS (2012)
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Richard J. L. F. Lemmers et al.
NATURE GENETICS (2012)
DUX4, a Candidate Gene for Facioscapulohumeral Muscular Dystrophy, Causes p53-Dependent Myopathy In Vivo
Lindsay M. Wallace et al.
ANNALS OF NEUROLOGY (2011)
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Robin B. Fitzsimons
NEUROMUSCULAR DISORDERS (2011)
The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression
Celine Vanderplanck et al.
PLOS ONE (2011)
Direct effects of the pathogenic mutation on satellite cell function in muscular dystrophy
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EXPERIMENTAL CELL RESEARCH (2010)
Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects
Marietta Barro et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2010)
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PLOS GENETICS (2010)
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
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HUMAN MOLECULAR GENETICS (2009)
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
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NUCLEIC ACIDS RESEARCH (2009)
DUX4c Is Up-Regulated in FSHD. It Induces the MYF5 Protein and Human Myoblast Proliferation
Eugenie Ansseau et al.
PLOS ONE (2009)
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
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EMBO JOURNAL (2008)
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EXPERIMENTAL NEUROLOGY (2008)
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
Manjusha Dixit et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The DUX4 gene at the FSHDIA locus encodes a pro-apoptotic protein
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NEUROMUSCULAR DISORDERS (2007)
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy
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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
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Muscle satellite cells adopt divergent fates: a mechanism for self-renewal?
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Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
ST Winokur et al.
HUMAN MOLECULAR GENETICS (2003)
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
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NEUROMUSCULAR DISORDERS (2003)
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
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NATURE GENETICS (2003)
Apoptosis coincident with the differentiation of skeletal myoblasts is delayed by caspase 3 inhibition and abrogated by MEK-independent constitutive Ras signaling
K Dee et al.
CELL DEATH AND DIFFERENTIATION (2002)
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
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NEUROMUSCULAR DISORDERS (2001)