Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

D4Z4as a prototype of CTCF and lamins-dependent insulator in human cells

(2014) Alexandre Ottaviani et al.   Nucleus

Facioscapulohumeral Muscular Dystrophy Region Gene 1 Is a Dynamic RNA-Associated and Actin-Bundling Protein

(2011) Chia-Yun Jessica Sun et al.   JOURNAL OF MOLECULAR BIOLOGY

Erratum to: Metabolic regulation by p53

(2011) Oliver D. K. Maddocks et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Decreased Proliferation Kinetics of Mouse Myoblasts Overexpressing FRG1

(2011) Steven C. Chen et al.   PLoS One

Epigenetic regulation of skeletal myogenesis

(2011) Valentina Saccone et al.   Organogenesis

Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population

(2011) Guido Stadler et al.   Skeletal Muscle

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

Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites

(2010) Q. Liu et al.   JOURNAL OF CELL SCIENCE

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

Heterogeneity in the muscle satellite cell population

(2010) Stefano Biressi et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy

(2009) R. D. Wuebbles et al.   Disease Models & Mechanisms

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

(2009) Rinse Klooster et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei

(2009) Peter S Masny et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

(2009) Eugénie Ansseau et al.   PLoS One

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers

(2009) P. Arashiro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy

(2009) Alexandre Ottaviani et al.   PLoS Genetics

Muscular dystrophy candidate gene FRG1 is critical for muscle development

(2008) Meredith L. Hanel et al.   DEVELOPMENTAL DYNAMICS

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

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

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

Facioscapulohumeral muscular dystrophy

(2008) Rabi Tawil   Neurotherapeutics