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NEUROMUSCULAR DISORDERS (2016)
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PLOS ONE (2016)
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NATURE COMMUNICATIONS (2016)
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PLOS ONE (2016)
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JOURNAL OF BIOMOLECULAR SCREENING (2016)
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Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways
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HUMAN MOLECULAR GENETICS (2015)
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STEM CELLS AND DEVELOPMENT (2015)
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy
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ELIFE (2015)
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HUMAN MOLECULAR GENETICS (2015)
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JOURNAL OF THE ROYAL SOCIETY INTERFACE (2015)
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
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HUMAN MOLECULAR GENETICS (2014)
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HUMAN MOLECULAR GENETICS (2014)
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
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HUMAN MOLECULAR GENETICS (2014)
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JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2014)
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JOURNAL OF CLINICAL INVESTIGATION (2014)
Myogenic Enhancers Regulate Expression of the Facioscapulohumeral Muscular Dystrophy-Associated DUX4 Gene
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MOLECULAR AND CELLULAR BIOLOGY (2014)
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NATURE BIOTECHNOLOGY (2014)
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SKELETAL MUSCLE (2014)
DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy
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SKELETAL MUSCLE (2014)
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SKELETAL MUSCLE (2014)
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AUTOIMMUNITY HIGHLIGHTS (2014)
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
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AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
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BRAIN (2013)
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FEBS JOURNAL (2013)
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
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HUMAN MOLECULAR GENETICS (2013)
Dysregulation of 4q35-and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
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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)
Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes
Anne-Valerie Gendrel et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy
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NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Alveolar rhabdomyosarcoma-associated proteins PAX3/FOXO1A and PAX7/FOXO1A suppress the transcriptional activity of MyoD-target genes in muscle stem cells
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ONCOGENE (2013)
DUX4 Differentially Regulates Transcriptomes of Human Rhabdomyosarcoma and Mouse C2C12 Cells
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PLOS ONE (2013)
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
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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)
Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
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AMERICAN JOURNAL OF HUMAN GENETICS (2012)
RNA-seq and microarray complement each other in transcriptome profiling
Sunitha Kogenaru et al.
BMC GENOMICS (2012)
A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
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CELL (2012)
Evolution of DUX gene macrosatellites in placental mammals
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CHROMOSOMA (2012)
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)
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CONTEMPORARY CLINICAL TRIALS (2012)
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DEVELOPMENT (2012)
DUX4 Activates Germ line Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy
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DEVELOPMENTAL CELL (2012)
Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction
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FREE RADICAL BIOLOGY AND MEDICINE (2012)
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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
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NATURE GENETICS (2012)
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PLOS ONE (2012)
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ANNALS OF NEUROLOGY (2011)
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PLOS ONE (2011)
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BMC DEVELOPMENTAL BIOLOGY (2010)
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BMC EVOLUTIONARY BIOLOGY (2010)
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EXPERIMENTAL CELL RESEARCH (2010)
Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects
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CD8/MHC-1 Complex is Specific but Not Sensitive for the Diagnosis of Polymyositis
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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
Lauren Snider et al.
HUMAN MOLECULAR GENETICS (2009)
Integrated Functions of Pax3 and Pax7 in the Regulation of Proliferation, Cell Size and Myogenic Differentiation
Charlotte A. Collins et al.
PLOS ONE (2009)
DUX4c Is Up-Regulated in FSHD. It Induces the MYF5 Protein and Human Myoblast Proliferation
Eugenie Ansseau et al.
PLOS ONE (2009)
Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy
Mark P. Jensen et al.
ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION (2008)
A fundamental study of the PCR amplification of GC-rich DNA templates
T. G. Mamedov et al.
COMPUTATIONAL BIOLOGY AND CHEMISTRY (2008)
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
Darko Bosnakovski et al.
EMBO JOURNAL (2008)
Pax7 activates myogenic genes by recruitment of a histone methyltransferase complex
Iain W. McKinnell et al.
NATURE CELL BIOLOGY (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)
Specific sequence variations within the 4q35 region are associated with Facioscapulohumeral muscular dystrophy
Richard J. L. F. Lemmers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The DUX4 gene at the FSHDIA locus encodes a pro-apoptotic protein
Valeria Kowaljow et al.
NEUROMUSCULAR DISORDERS (2007)
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
R. J. Osborne et al.
NEUROLOGY (2007)
RAGE-NF-κB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy
V. Macaione et al.
ACTA NEUROLOGICA SCANDINAVICA (2007)
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
Barbara Celegato et al.
PROTEOMICS (2006)
Facioscapulohumeral muscular dystrophy
Rabi Tawil et al.
MUSCLE & NERVE (2006)
Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation
Miho Kawamura-Saito et al.
HUMAN MOLECULAR GENETICS (2006)
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
M Bakay et al.
BRAIN (2006)
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
D Gabellini et al.
NATURE (2006)
Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells
F Relaix et al.
JOURNAL OF CELL BIOLOGY (2006)
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
A Subramanian et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
D Laoudj-Chenivesse et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2005)
Pax7 distribution in human skeletal muscle biopsies and myogenic tissue cultures
J Reimann et al.
CELL AND TISSUE RESEARCH (2004)
Muscle satellite cells adopt divergent fates: a mechanism for self-renewal?
PS Zammit et al.
JOURNAL OF CELL BIOLOGY (2004)
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
ST Winokur et al.
NEUROMUSCULAR DISORDERS (2003)
Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation
DJ Yip et al.
FEBS LETTERS (2003)
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
PGM van Overveld et al.
NATURE GENETICS (2003)
Pax7 is required for the specification of myogenic satellite cells
P Seale et al.
CELL (2000)
FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy
KJ Felice et al.
NEUROLOGY (2000)
Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children
S Decary et al.
NEUROMUSCULAR DISORDERS (2000)