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

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

Hemizygosity forSMCHD1in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

(2015) Richard J. L. F. Lemmers et al.   HUMAN MUTATION

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

(2014) Weihua Zeng et al.   HUMAN MUTATION

Population-based incidence and prevalence of facioscapulohumeral dystrophy

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

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

(2014) Rabi Tawil 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

Chaetocin is a nonspecific inhibitor of histone lysine methyltransferases

(2013) Fanny L Cherblanc et al.   Nature Chemical Biology

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy

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

Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway

(2013) Ryu-Suke Nozawa et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A focal domain of extreme demethylation within D4Z4 in FSHD2

(2013) L. M. Hartweck et al.   NEUROLOGY

A quantitative telomeric chromatin isolation protocol identifies different telomeric states

(2013) Larissa Grolimund et al.   Nature Communications

Redistribution of H3K27me3 upon DNA hypomethylation results in de-repression of Polycomb target genes

(2013) James P Reddington et al.   GENOME BIOLOGY

Comparison of endogenous and overexpressed MyoD shows enhanced binding of physiologically bound sites

(2013) Zizhen Yao et al.   Skeletal Muscle

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

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD

(2012) Judit Balog et al.   Epigenetics

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

EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-activating mutations

(2012) Michael T. McCabe et al.   NATURE

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

A novel molecular mechanism in human genetic disease

(2012) Daphne S. Cabianca et al.   RNA Biology

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

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

Genome-wide remodeling of the epigenetic landscape during myogenic differentiation

(2011) P. Asp et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

(2011) Silvère M. van der Maarel et al.   TRENDS IN MOLECULAR MEDICINE

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

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

(2009) Beatrice Bodega et al.   BMC 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

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

(2009) Jessica C. de Greef et al.   HUMAN MUTATION

Mir-214-Dependent Regulation of the Polycomb Protein Ezh2 in Skeletal Muscle and Embryonic Stem Cells

(2009) Aster H. Juan et al.   MOLECULAR CELL

In Brief

(2009)   NATURE REVIEWS NEUROSCIENCE

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

(2009) Weihua Zeng et al.   PLoS Genetics