Direct interplay between two candidate genes in FSHD muscular dystrophy

Population-based incidence and prevalence of facioscapulohumeral dystrophy

(2014) J. C. W. Deenen et al.   NEUROLOGY

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

(2013) Valentina Sancisi et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

(2013) Maxime Ferreboeuf 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

Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells

(2013) A. Xynos et al.   JOURNAL OF CELL SCIENCE

DUX4 Differentially Regulates Transcriptomes of Human Rhabdomyosarcoma and Mouse C2C12 Cells

(2013) Vishakha Sharma et al.   PLoS One

FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis

(2013) Maria Victoria Neguembor et al.   Journal of Molecular Cell Biology

Rbfox1 Downregulation and Altered Calpain 3 Splicing by FRG1 in a Mouse Model of Facioscapulohumeral Muscular Dystrophy (FSHD)

(2013) Mariaelena Pistoni et al.   PLoS Genetics

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

Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient

(2012) Yvonne D. Krom et al.   AMERICAN JOURNAL OF PATHOLOGY

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

(2012) Daphne S. Cabianca et al.   CELL

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

Gene expression during normal and FSHD myogenesis

(2011) Koji Tsumagari et al.   BMC Medical Genomics

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

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

Decreased Proliferation Kinetics of Mouse Myoblasts Overexpressing FRG1

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

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

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

Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein

(2010) Meredith L. Hanel et al.   DIFFERENTIATION

FSHD: copy number variations on the theme of muscular dystrophy

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

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

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

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

Trim43a, Trim43b, and Trim43c: Novel mouse genes expressed specifically in mouse preimplantation embryos

(2009) Ilaria Stanghellini et al.   GENE EXPRESSION PATTERNS

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

Histone modifications at human enhancers reflect global cell-type-specific gene expression

(2009) Nathaniel D. Heintzman et al.   NATURE

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

Evolutionary Forces Shape the Human RFPL1,2,3 Genes toward a Role in Neocortex Development

(2008) Jérôme Bonnefont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Muscular dystrophy candidate gene FRG1 is critical for muscle development

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

Facioscapulohumeral Dystrophy

(2007) Shree Pandya et al.   PHYSICAL THERAPY