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

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

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells

(2013) Gregory J. Block et al.   HUMAN MOLECULAR GENETICS

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

eRNAs Promote Transcription by Establishing Chromatin Accessibility at Defined Genomic Loci

(2013) Kambiz Mousavi et al.   MOLECULAR CELL

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

Genetic Determinants and Cellular Constraints in Noisy Gene Expression

(2013) A. Sanchez et al.   SCIENCE

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

Noncoding Transcription at Enhancers: General Principles and Functional Models

(2012) Gioacchino Natoli et al.   Annual Review of Genetics

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

(2012) Daphne S. Cabianca et al.   CELL

Evolution of DUX gene macrosatellites in placental mammals

(2012) Andreas Leidenroth et al.   CHROMOSOMA

Enhancers: emerging roles in cell fate specification

(2012) Chin-Tong Ong et al.   EMBO REPORTS

Genome-wide mapping of nucleosome positioning and DNA methylation within individual DNA molecules

(2012) T. K. Kelly et al.   GENOME RESEARCH

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

Analysis of long-range chromatin interactions using Chromosome Conformation Capture

(2012) Natalia Naumova et al.   METHODS

Snail Regulates MyoD Binding-Site Occupancy to Direct Enhancer Switching and Differentiation-Specific Transcription in Myogenesis

(2012) Vahab D. Soleimani et al.   MOLECULAR CELL

The long-range interaction landscape of gene promoters

(2012) Amartya Sanyal 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

Asymmetric Bidirectional Transcription from the FSHD-Causing D4Z4 Array Modulates DUX4 Production

(2012) Gregory J. Block et al.   PLoS One

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

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Polycomb-Repressed Genes Have Permissive Enhancers that Initiate Reprogramming

(2011) Phillippa C. Taberlay et al.   CELL

Throwing transcription for a loop: expression of the genome in the 3D nucleus

(2011) Chunhui Hou et al.   CHROMOSOMA

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

Immunodetection of Human Double Homeobox 4

(2011) Linda N. Geng et al.   HYBRIDOMA

CTCF Promotes Muscle Differentiation by Modulating the Activity of Myogenic Regulatory Factors

(2011) Paul Delgado-Olguín et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Krüppel-like Factor 15 as a Molecular Link between Myogenic Factors and a Chromosome 4q Transcriptional Enhancer Implicated in Facioscapulohumeral Dystrophy

(2011) Petr Dmitriev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dynamic Nucleosome-Depleted Regions at Androgen Receptor Enhancers in the Absence of Ligand in Prostate Cancer Cells

(2011) C. Andreu-Vieyra et al.   MOLECULAR AND CELLULAR BIOLOGY

Satellite cells, the engines of muscle repair

(2011) Yu Xin Wang et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

OCT4 establishes and maintains nucleosome-depleted regions that provide additional layers of epigenetic regulation of its target genes

(2011) J. S. You et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

FSHD: copy number variations on the theme of muscular dystrophy

(2010) Daphne Selvaggia Cabianca et al.   JOURNAL OF CELL BIOLOGY

The human SWI/SNF complex associates with RUNX1 to control transcription of hematopoietic target genes

(2010) Rachit Bakshi et al.   JOURNAL OF CELLULAR PHYSIOLOGY

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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

Hypomethylation of a LINE-1 Promoter Activates an Alternate Transcript of the MET Oncogene in Bladders with Cancer

(2010) Erika M. Wolff et al.   PLoS Genetics

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

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

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

Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

(2009) Darko Bosnakovski et al.   PLoS One

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

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

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

Global transcriptional regulation of the locus encoding the skeletal muscle determination genes Mrf4 and Myf5

(2008) J. J. Carvajal et al.   GENES & DEVELOPMENT

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