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

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

(2012) Daphne S. Cabianca et al.   CELL

Smchd1-Dependent and -Independent Pathways Determine Developmental Dynamics of CpG Island Methylation on the Inactive X Chromosome

(2012) Anne-Valerie Gendrel et al.   DEVELOPMENTAL CELL

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

(2012) Judit Balog et al.   Epigenetics

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

(2012) Isabella Scionti et al.   JOURNAL OF MEDICAL GENETICS

Facioscapulohumeral muscular dystrophy

(2011) Jeffrey M. Statland et al.   CURRENT OPINION IN NEUROLOGY

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

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

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

(2011) Céline Vanderplanck et al.   PLoS One

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

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

Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution

(2010) Richard J.L.F. Lemmers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

(2010) Gillian Spurlock et al.   MUSCLE & NERVE

Clinical features of facioscapulohumeral muscular dystrophy 2

(2010) J. C. de Greef et al.   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

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

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

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

A structural-maintenance-of-chromosomes hinge domain–containing protein is required for RNA-directed DNA methylation

(2008) Tatsuo Kanno et al.   NATURE GENETICS

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

(2008) Marnie E Blewitt et al.   NATURE GENETICS