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

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

(2016) Marlinde L. van den Boogaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

(2016) Giorgio Tasca et al.   ANNALS OF NEUROLOGY

Contributions of Japanese patients to development of antisense therapy for DMD

(2016) Masafumi Matsuo et al.   BRAIN & DEVELOPMENT

Facioscapulohumeral Dystrophy

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

Translational development of splice-modifying antisense oligomers

(2016) S Fletcher et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Exon skipping: a first in class strategy for Duchenne muscular dystrophy

(2016) Erik H. Niks et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

DUX4-induced constitutive DNA damage and oxidative stress contribute to aberrant differentiation of myoblasts from FSHD patients

(2016) Petr Dmitriev et al.   FREE RADICAL BIOLOGY AND MEDICINE

A comprehensive analysis of 3′ end sequencing data sets reveals novel polyadenylation signals and the repressive role of heterogeneous ribonucleoprotein C on cleavage and polyadenylation

(2016) Andreas J. Gruber et al.   GENOME RESEARCH

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

(2016) Sujatha Jagannathan et al.   HUMAN MOLECULAR GENETICS

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

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

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

Scalpel or Straitjacket: CRISPR/Cas9 Approaches for Muscular Dystrophies

(2016) Charis L. Himeda et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

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

(2016) Eugénie Ansseau et al.   PLoS One

Facioscapulohumeral Muscular Dystrophy As a Model for Epigenetic Regulation and Disease

(2015) Charis L. Himeda et al.   ANTIOXIDANTS & REDOX SIGNALING

Genetic and epigenetic contributors to FSHD

(2015) Lucia Daxinger et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Effects of vitamin C, vitamin E, zinc gluconate, and selenomethionine supplementation on muscle function and oxidative stress biomarkers in patients with facioscapulohumeral dystrophy: A double-blind randomized controlled clinical trial

(2015) Emilie Passerieux et al.   FREE RADICAL BIOLOGY AND MEDICINE

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD

(2015) Jong-Won Lim et al.   HUMAN MOLECULAR GENETICS

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy: Figure 1.

(2015) Jane E. Hewitt   HUMAN MOLECULAR GENETICS

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

Alternative 3′ UTRs act as scaffolds to regulate membrane protein localization

(2015) Binyamin D. Berkovits et al.   NATURE

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

(2015) Rabi Tawil et al.   NEUROLOGY

The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow

(2015) Laurence de la Kethulle de Ryhove et al.   STEM CELLS AND DEVELOPMENT

Emerging preclinical animal models for FSHD

(2015) Angela Lek et al.   TRENDS IN MOLECULAR MEDICINE

Parallel Synthesis of Cell-Penetrating Peptide Conjugates of PMO Toward Exon Skipping Enhancement in Duchenne Muscular Dystrophy

(2015) Liz O'Donovan et al.   Nucleic Acid Therapeutics

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

(2015) Qing Feng et al.   eLife

DNA-binding sequence specificity of DUX4

(2015) Yu Zhang et al.   Skeletal Muscle

Aberrant Splicing in Transgenes Containing Introns, Exons, and V5 Epitopes: Lessons from Developing an FSHD Mouse Model Expressing a D4Z4 Repeat with Flanking Genomic Sequences

(2015) Eugénie Ansseau et al.   PLoS One

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

Facioscapulohumeral Muscular Dystrophy

(2014) Jeffrey Statland et al.   NEUROLOGIC CLINICS

Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: An RCT

(2014) N. Voet et al.   NEUROLOGY

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

(2014) M.-C. Gaillard et al.   NEUROLOGY

Population-based incidence and prevalence of facioscapulohumeral dystrophy

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

Distinct Disease Phases in Muscles of Facioscapulohumeral Dystrophy Patients Identified by MR Detected Fat Infiltration

(2014) Barbara H. Janssen et al.   PLoS One

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

(2014) Takako I Jones et al.   Clinical Epigenetics

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

Morpholino Treatment Improves Muscle Function and Pathology of Pitx1 Transgenic Mice

(2013) Sachchida Nand Pandey et al.   MOLECULAR THERAPY

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy

(2013) Guido Stadler et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cellular trafficking determines the exon skipping activity of Pip6a-PMO in mdx skeletal and cardiac muscle cells

(2013) T. Lehto et al.   NUCLEIC ACIDS RESEARCH

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

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

Means to an end: mechanisms of alternative polyadenylation of messenger RNA precursors

(2013) Andreas R. Gruber et al.   Wiley Interdisciplinary Reviews-RNA

Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient

(2012) Yvonne D. Krom et al.   AMERICAN JOURNAL OF PATHOLOGY

A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy

(2012) Daphne S. Cabianca et al.   CELL

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

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

RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy

(2012) Lindsay M Wallace et al.   MOLECULAR THERAPY

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles

(2012) Giorgio Tasca et al.   PLoS One

FSHD Myotubes with Different Phenotypes Exhibit Distinct Proteomes

(2012) Alexandra Tassin et al.   PLoS One

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

(2012) S. Attarian et al.   REVUE NEUROLOGIQUE

Gene expression during normal and FSHD myogenesis

(2011) Koji Tsumagari et al.   BMC Medical Genomics

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

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

Chemical and Mechanistic Toxicology Evaluation of Exon Skipping Phosphorodiamidate Morpholino Oligomers in mdx Mice

(2011) Peter Sazani et al.   INTERNATIONAL JOURNAL OF TOXICOLOGY

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

(2011) Céline Vanderplanck et al.   PLoS One

Comprehensive Polyadenylation Site Maps in Yeast and Human Reveal Pervasive Alternative Polyadenylation

(2010) Fatih Ozsolak et al.   CELL

Dystrophin Isoform Induction In Vivo by Antisense-mediated Alternative Splicing

(2010) Sue Fletcher et al.   MOLECULAR THERAPY

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Identification of valid reference genes during the differentiation of human myoblasts

(2009) Jens Stern-Straeter et al.   BMC MOLECULAR BIOLOGY

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

(2009) Lauren Snider et al.   HUMAN MOLECULAR GENETICS

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

3′ end mRNA processing: molecular mechanisms and implications for health and disease

(2008) Sven Danckwardt et al.   EMBO JOURNAL

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

(2008) Darko Bosnakovski et al.   EXPERIMENTAL NEUROLOGY

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

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