A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles

Robust generation and expansion of skeletal muscle progenitors and myocytes from human pluripotent stem cells

(2016) Michael Shelton et al.   METHODS

GSTT1 is upregulated by oxidative stress through p38-MK2 signaling pathway in human granulosa cells: possible association with mitochondrial activity

(2016) Megumu Ito et al.   Aging-US

Pluripotent Stem Cells for Gene Therapy of Degenerative Muscle Diseases

(2015) Mariana Loperfido et al.   CURRENT GENE THERAPY

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways

(2015) Amanda M. Rickard et al.   HUMAN MOLECULAR GENETICS

Differentiation of pluripotent stem cells to muscle fiber to model Duchenne muscular dystrophy

(2015) Jérome Chal et al.   NATURE BIOTECHNOLOGY

Efficient derivation and inducible differentiation of expandable skeletal myogenic cells from human ES and patient-specific iPS cells

(2015) Sara M Maffioletti et al.   Nature Protocols

Emerging preclinical animal models for FSHD

(2015) Angela Lek et al.   TRENDS IN MOLECULAR MEDICINE

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

(2014) Zizhen Yao et al.   HUMAN MOLECULAR GENETICS

 -catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy

(2014) C. R. S. Banerji et al.   Journal of the Royal Society Interface

Abnormalities in human pluripotent cells due to reprogramming mechanisms

(2014) Hong Ma et al.   NATURE

Population-based incidence and prevalence of facioscapulohumeral dystrophy

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

Dominant Lethal Pathologies in Male Mice Engineered to Contain an X-Linked DUX4 Transgene

(2014) Abhijit Dandapat et al.   Cell Reports

Derivation of Myogenic Progenitors Directly From Human Pluripotent Stem Cells Using a Sphere-Based Culture

(2014) Tohru Hosoyama et al.   Stem Cells Translational Medicine

Derivation and Expansion of PAX7-Positive Muscle Progenitors from Human and Mouse Embryonic Stem Cells

(2014) Michael Shelton et al.   Stem Cell Reports

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

(2014) Rabi Tawil et al.   Skeletal Muscle

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

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

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

DUX4 Differentially Regulates Transcriptomes of Human Rhabdomyosarcoma and Mouse C2C12 Cells

(2013) Vishakha Sharma et al.   PLoS One

Directed In Vitro Myogenesis of Human Embryonic Stem Cells and Their In Vivo Engraftment

(2013) Yongsung Hwang et al.   PLoS One

Altered Expression of Cyclin A 1 In Muscle of Patients with Facioscapulohumeral Muscle Dystrophy (FSHD-1)

(2013) Anna Pakula et al.   PLoS One

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

(2013) Yvonne D. Krom et al.   PLoS Genetics

Derivation and FACS-Mediated Purification of PAX3+/PAX7+ Skeletal Muscle Precursors from Human Pluripotent Stem Cells

(2013) Bianca Borchin et al.   Stem Cell Reports

Human ES- and iPS-Derived Myogenic Progenitors Restore DYSTROPHIN and Improve Contractility upon Transplantation in Dystrophic Mice

(2012) Radbod Darabi et al.   Cell Stem Cell

Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction

(2012) Ahmed Turki et al.   FREE RADICAL BIOLOGY AND MEDICINE

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

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

FSHD Myotubes with Different Phenotypes Exhibit Distinct Proteomes

(2012) Alexandra Tassin 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

Highly Efficient Derivation of Skeletal Myotubes from Human Embryonic Stem Cells

(2012) Lingjun Rao et al.   Stem Cell Reviews and Reports

Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice

(2012) S. N. Pandey et al.   Biology Open

Gene expression during normal and FSHD myogenesis

(2011) Koji Tsumagari et al.   BMC Medical Genomics

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

(2011) Mark Richards et al.   HUMAN GENETICS

Expression Profiling of FSHD-1 and FSHD-2 Cells during Myogenic Differentiation Evidences Common and Distinctive Gene Dysregulation Patterns

(2011) Stefania Cheli et al.   PLoS One

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

(2011) Céline Vanderplanck et al.   PLoS One

Retinoic Acid Enhances Skeletal Myogenesis in Human Embryonic Stem Cells by Expanding the Premyogenic Progenitor Population

(2011) Tammy Ryan et al.   Stem Cell Reviews and Reports

FSHD: copy number variations on the theme of muscular dystrophy

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

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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

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

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

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

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

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

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

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

Facioscapulohumeral Dystrophy

(2007) Shree Pandya et al.   PHYSICAL THERAPY