Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei

DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy

(2017) Sean C. Shadle et al.   PLoS Genetics

Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD)

(2017) Eugénie Ansseau et al.   Genes

Facioscapulohumeral Dystrophy

(2016) Leo H. Wang et al.   Current Neurology and Neuroscience Reports

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy

(2016) Karlien Mul et al.   CURRENT OPINION IN NEUROLOGY

Antisense targeting of 3′ end elements involved inDUX4mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach

(2016) Anne-Charlotte Marsollier et al.   HUMAN MOLECULAR GENETICS

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

(2016) Paul Knopp et al.   JOURNAL OF CELL SCIENCE

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics

(2016) Jennifer CJ Chen et al.   MOLECULAR THERAPY

A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy

(2016) Laura Virginia Gatica et al.   NEUROMUSCULAR DISORDERS

DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes

(2016) Si Ho Choi et al.   NUCLEIC ACIDS RESEARCH

Dux4 controls migration of mesenchymal stem cells through the Cxcr4-Sdf1 axis

(2016) Petr Dmitriev et al.   Oncotarget

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles

(2016) Leslie Caron et al.   Stem Cells Translational Medicine

Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation

(2016) Eugénie Ansseau et al.   PLoS One

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

(2015) Judit Balog et al.   Epigenetics

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways

(2015) Amanda M. Rickard et al.   HUMAN MOLECULAR GENETICS

Culture Conditions Affect Expression of DUX4 in FSHD Myoblasts

(2015) Sachchida Pandey et al.   MOLECULES

DNA-binding sequence specificity of DUX4

(2015) Yu Zhang et al.   Skeletal Muscle

Double homeobox gene, Duxbl, promotes myoblast proliferation and abolishes myoblast differentiation by blocking MyoD transactivation

(2014) Shey-Lin Wu et al.   CELL AND TISSUE RESEARCH

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

(2014) Mirjam Larsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

(2014) Zizhen Yao et al.   HUMAN MOLECULAR GENETICS

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

(2014) Richard J.L.F. Lemmers et al.   HUMAN MOLECULAR GENETICS

Wnt Protein-mediated Satellite Cell Conversion in Adult and Aged Mice Following Voluntary Wheel Running

(2014) Shin Fujimaki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

 -catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy

(2014) C. R. S. Banerji et al.   Journal of the Royal Society Interface

Myogenic Enhancers Regulate Expression of the Facioscapulohumeral Muscular Dystrophy-Associated DUX4 Gene

(2014) C. L. Himeda et al.   MOLECULAR AND CELLULAR BIOLOGY

Population-based incidence and prevalence of facioscapulohumeral dystrophy

(2014) J. C. W. Deenen et al.   NEUROLOGY

Expression and Functional Characterization of Smyd1a in Myofibril Organization of Skeletal Muscles

(2014) Jie Gao et al.   PLoS One

Titin kinase is an inactive pseudokinase scaffold that supports MuRF1 recruitment to the sarcomeric M-line

(2014) J. Bogomolovas et al.   Open Biology

High-throughput screening identifies inhibitors of DUX4-induced myoblast toxicity

(2014) Darko Bosnakovski et al.   Skeletal Muscle

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

(2013) Sabrina Sacconi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

(2013) Valentina Sancisi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

(2013) Saskia Lassche et al.   BMC Neurology

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells

(2013) Gregory J. Block et al.   HUMAN MOLECULAR GENETICS

Defective Regulation of MicroRNA Target Genes in Myoblasts from Facioscapulohumeral Dystrophy Patients

(2013) Petr Dmitriev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DUX4 Differentially Regulates Transcriptomes of Human Rhabdomyosarcoma and Mouse C2C12 Cells

(2013) Vishakha Sharma et al.   PLoS One

DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis

(2013) Janet M. Young et al.   PLoS Genetics

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

(2013) Yvonne D. Krom et al.   PLoS Genetics

Evolution of DUX gene macrosatellites in placental mammals

(2012) Andreas Leidenroth et al.   CHROMOSOMA

Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction

(2012) Ahmed Turki et al.   FREE RADICAL BIOLOGY AND MEDICINE

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

(2012) Takako Iida Jones et al.   HUMAN MOLECULAR GENETICS

DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?

(2012) Alexandra Tassin et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Deciphering transcription dysregulation in FSH muscular dystrophy

(2012) Melanie Ehrlich et al.   JOURNAL OF HUMAN GENETICS

FSHD Myotubes with Different Phenotypes Exhibit Distinct Proteomes

(2012) Alexandra Tassin et al.   PLoS One

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

(2011) Mark Richards et al.   HUMAN GENETICS

Immunodetection of Human Double Homeobox 4

(2011) Linda N. Geng et al.   HYBRIDOMA

A WNT/β-Catenin Signaling Activator, R-spondin, Plays Positive Regulatory Roles during Skeletal Myogenesis

(2011) Xiang Hua Han et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Krüppel-like Factor 15 as a Molecular Link between Myogenic Factors and a Chromosome 4q Transcriptional Enhancer Implicated in Facioscapulohumeral Dystrophy

(2011) Petr Dmitriev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

(2011) Céline Vanderplanck et al.   PLoS One

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

(2010) Lindsay M. Wallace et al.   ANNALS OF NEUROLOGY

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Sarcomere Formation Occurs by the Assembly of Multiple Latent Protein Complexes

(2010) Yanning Rui et al.   PLoS Genetics

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

skNAC (skeletal Naca), a muscle-specific isoform of Naca (nascent polypeptide-associated complex alpha), is required for myofibril organization

(2009) Huiqing Li et al.   FASEB JOURNAL

DUX4c Is Up-Regulated in FSHD. It Induces the MYF5 Protein and Human Myoblast Proliferation

(2009) Eugénie Ansseau et al.   PLoS One

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation

(2008) Darko Bosnakovski et al.   EXPERIMENTAL NEUROLOGY

Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration

(2008) A. Otto et al.   JOURNAL OF CELL SCIENCE

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects

(2008) Marietta Barro et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A Functional Role for 4qA/B in the Structural Rearrangement of the 4q35 Region and in the Regulation of FRG1 and ANT1 in Facioscapulohumeral Dystrophy

(2008) Iryna Pirozhkova et al.   PLoS One