Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

Facioscapulohumeral Muscular Dystrophy As a Model for Epigenetic Regulation and Disease

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

Aging and DNA methylation

(2015) Marc Jung et al.   BMC BIOLOGY

Using beta-binomial regression for high-precision differential methylation analysis in multifactor whole-genome bisulfite sequencing experiments

(2014) Egor Dolzhenko et al.   BMC BIOINFORMATICS

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

(2014) Jincy Winston et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

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

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

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

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

(2014) Takako I Jones et al.   Clinical Epigenetics

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

(2014) Alexandre Ottaviani et al.   Nucleus

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

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

(2013) Mireille Schaap et al.   BMC GENOMICS

Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

(2013) Giulia Ricci et al.   BRAIN

Mapping Human Epigenomes

(2013) Chloe M. Rivera et al.   CELL

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

(2013) Natacha Broucqsault et al.   HUMAN MOLECULAR GENETICS

A focal domain of extreme demethylation within D4Z4 in FSHD2

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

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

(2013) Satomi Mitsuhashi et al.   NEUROMUSCULAR DISORDERS

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

(2013) Arne W Mould et al.   Epigenetics & Chromatin

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

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

(2013) Nathalie Caruso et al.   PLoS Genetics

Differential DNA methylation with age displays both common and dynamic features across human tissues that are influenced by CpG landscape

(2013) Kenneth Day et al.   GENOME BIOLOGY

Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research

(2013) Soonsang Yoon et al.   Skeletal Muscle

Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

(2012) Isabella Scionti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Facioscapulohumeral muscular dystrophy

(2012) Silvère M. van der Maarel et al.   CURRENT OPINION IN NEUROLOGY

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 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

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

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

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

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

(2012) P. Sakellariou et al.   NEUROMUSCULAR DISORDERS

Genomic landscape of human allele-specific DNA methylation

(2012) F. Fang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

(2012) F. Rahimov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aging effects on DNA methylation modules in human brain and blood tissue

(2012) Steve Horvath et al.   GENOME BIOLOGY

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy

(2011) Karine Nguyen et al.   ANNALS OF NEUROLOGY

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

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

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function

(2011) Sachiko Homma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Polycomb EZH2 controls self-renewal and safeguards the transcriptional identity of skeletal muscle stem cells

(2011) A. H. Juan et al.   GENES & DEVELOPMENT

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

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

BISMA - Fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences

(2010) Christian Rohde et al.   BMC BIOINFORMATICS

Chromatin Remodeling Is Required for Gene Reactivation after Decitabine-Mediated DNA Hypomethylation

(2010) J. Si et al.   CANCER RESEARCH

5-azacytidine treatment reorganizes genomic histone modification patterns

(2010) Vitalina M. Komashko et al.   Epigenetics

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

Molecular Signals of Epigenetic States

(2010) Roberto Bonasio 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

Facioscapulohumeral muscular dystrophy

(2009) George W Padberg et al.   CURRENT OPINION IN NEUROLOGY

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

Modes of action of the DNA methyltransferase inhibitors azacytidine and decitabine

(2008) Carlo Stresemann et al.   INTERNATIONAL JOURNAL OF CANCER

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

(2008) Marnie E Blewitt et al.   NATURE GENETICS

Facioscapulohumeral muscular dystrophy

(2008) Rabi Tawil   Neurotherapeutics

Facioscapulohumeral Dystrophy

(2007) Shree Pandya et al.   PHYSICAL THERAPY