FSHD: copy number variations on the theme of muscular dystrophy

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

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

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

Chromatin remodelling during development

(2010) Lena Ho et al.   NATURE

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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

Gene Positioning

(2010) C. Ferrai et al.   Cold Spring Harbor Perspectives in Biology

The Nuclear Envelope

(2010) M. W. Hetzer   Cold Spring Harbor Perspectives in Biology

In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy

(2010) Maria V Neguembor et al.   Epigenomics

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

Macrosatellite epigenetics: the two faces of DXZ4 and D4Z4

(2009) Brian P. Chadwick   CHROMOSOMA

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

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF

(2009) Alexandre Ottaviani et al.   EMBO JOURNAL

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

(2009) Rinse Klooster 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

Loss of YY1 Impacts the Heterochromatic State and Meiotic Double-Strand Breaks during Mouse Spermatogenesis

(2009) S. Wu et al.   MOLECULAR AND CELLULAR BIOLOGY

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Mechanisms of Polycomb gene silencing: knowns and unknowns

(2009) Jeffrey A. Simon et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Histones: Annotating Chromatin

(2008) Eric I. Campos et al.   Annual Review of Genetics

Analysis of the largest tandemly repeated DNA families in the human genome

(2008) Peter E Warburton et al.   BMC GENOMICS

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

Epigenetic Silencing of CCAAT/Enhancer-binding Protein δ Activity by YY1/Polycomb Group/DNA Methyltransferase Complex

(2008) Chiung-Yuan Ko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Isolation of an active step I spliceosome and composition of its RNP core

(2008) Sergey Bessonov et al.   NATURE

Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

(2008) Lars Guelen et al.   NATURE

DNA methylation landscapes: provocative insights from epigenomics

(2008) Miho M. Suzuki et al.   NATURE REVIEWS GENETICS

Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers

(2008) Koji Tsumagari et al.   NUCLEIC ACIDS RESEARCH

A Functional Role for 4qA/B in the Structural Rearrangement of the 4q35 Region and in the Regulation of FRG1 and ANT1 in Facioscapulohumeral Dystrophy

(2008) Iryna Pirozhkova et al.   PLoS One

Facioscapulohumeral Dystrophy

(2007) Shree Pandya et al.   PHYSICAL THERAPY