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

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

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

(2012) Daphne S. Cabianca et al.   CELL

Functional interactions between Fat family cadherins in tissue morphogenesis and planar polarity

(2012) S. Saburi et al.   DEVELOPMENT

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

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy

(2011) Karine Nguyen et al.   ANNALS OF NEUROLOGY

Gene expression during normal and FSHD myogenesis

(2011) Koji Tsumagari et al.   BMC Medical Genomics

An eye on the head: the development and evolution of craniofacial muscles

(2011) R. Sambasivan et al.   DEVELOPMENT

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

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

Dual Processing of FAT1 Cadherin Protein by Human Melanoma Cells Generates Distinct Protein Products

(2011) Elham Sadeqzadeh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?

(2011) Robin B. Fitzsimons   NEUROMUSCULAR DISORDERS

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

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

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

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

Cell Flow Reorients the Axis of Planar Polarity in the Wing Epithelium of Drosophila

(2010) Benoît Aigouy et al.   CELL

Clonal analysis reveals common lineage relationships between head muscles and second heart field derivatives in the mouse embryo

(2010) F. Lescroart et al.   DEVELOPMENT

The occipital lateral plate mesoderm is a novel source for vertebrate neck musculature

(2010) S. Theis et al.   DEVELOPMENT

Atypical Cadherins Dachsous and Fat Control Dynamics of Noncentrosomal Microtubules in Planar Cell Polarity

(2010) Toshiyuki Harumoto et al.   DEVELOPMENTAL CELL

Somitic origin of the medial border of the mammalian scapula and its homology to the avian scapula blade

(2010) Petr Valasek et al.   JOURNAL OF ANATOMY

Clinical features of facioscapulohumeral muscular dystrophy 2

(2010) J. C. de Greef et al.   NEUROLOGY

Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

(2010) Ben C. Reynolds et al.   PEDIATRIC NEPHROLOGY

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

Wnt7a Activates the Planar Cell Polarity Pathway to Drive the Symmetric Expansion of Satellite Stem Cells

(2009) Fabien Le Grand et al.   Cell Stem Cell

Phosphorylation of the Tumor Suppressor Fat Is Regulated by Its Ligand Dachsous and the Kinase Discs Overgrown

(2009) Richelle Sopko et al.   CURRENT BIOLOGY

The skinny on Fat: an enormous cadherin that regulates cell adhesion, tissue growth, and planar cell polarity

(2009) Richelle Sopko et al.   CURRENT OPINION IN CELL BIOLOGY

Distinct Regulatory Cascades Govern Extraocular and Pharyngeal Arch Muscle Progenitor Cell Fates

(2009) Ramkumar Sambasivan et al.   DEVELOPMENTAL CELL

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

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

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

Unlocking the secrets of the genome

(2009) Susan E. Celniker et al.   NATURE

Wnt Signals Organize Synaptic Prepattern and Axon Guidance through the Zebrafish unplugged/MuSK Receptor

(2009) Lili Jing et al.   NEURON

DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2

(2009) Xueqing Xu et al.   NUCLEIC ACIDS RESEARCH

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

(2009) Darko Bosnakovski et al.   PLoS One

DUX4c Is Up-Regulated in FSHD. It Induces the MYF5 Protein and Human Myoblast Proliferation

(2009) Eugénie Ansseau et al.   PLoS One

Processing and phosphorylation of the Fat receptor

(2009) Y. Feng 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

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

(2009) Hajime Matsuzaki et al.   GENOME BIOLOGY

Planar Cell Polarity Signaling: From Fly Development to Human Disease

(2008) Matias Simons et al.   Annual Review of Genetics

CGHweb: a tool for comparing DNA copy number segmentations from multiple algorithms

(2008) W. Lai et al.   BIOINFORMATICS

The contribution of Islet1-expressing splanchnic mesoderm cells to distinct branchiomeric muscles reveals significant heterogeneity in head muscle development

(2008) E. Nathan et al.   DEVELOPMENT

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

(2008) Darko Bosnakovski et al.   EMBO JOURNAL

WNT11 acts as a directional cue to organize the elongation of early muscle fibres

(2008) Jérôme Gros et al.   NATURE

Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease

(2008) Sakura Saburi et al.   NATURE GENETICS

Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis

(2008) Koji Yamanaka et al.   NATURE NEUROSCIENCE

Pearls in the junk: Dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy

(2008) Petr Dmitriev et al.   NEUROMUSCULAR DISORDERS

The Plane Facts of PCP in the CNS

(2008) Lisa V. Goodrich   NEURON

Muscle development: Forming the head and trunk muscles

(2007) Hung Ping Shih et al.   ACTA HISTOCHEMICA

Telomeric position effect: From the yeast paradigm to human pathologies?

(2007) Alexandre Ottaviani et al.   BIOCHIMIE