相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression
Hongliang Xu et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2014)
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
Maxime Ferreboeuf et al.
HUMAN MOLECULAR GENETICS (2014)
Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access 8-9 April 2013, Leiden, The Netherlands
R. Tawil et al.
NEUROMUSCULAR DISORDERS (2014)
Distinct Disease Phases in Muscles of Facioscapulohumeral Dystrophy Patients Identified by MR Detected Fat Infiltration
Barbara H. Janssen et al.
PLOS ONE (2014)
High-throughput screening identifies inhibitors of DUX4-induced myoblast toxicity
Darko Bosnakovski et al.
SKELETAL MUSCLE (2014)
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Sabrina Sacconi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Eteplirsen for the Treatment of Duchenne Muscular Dystrophy
Jerry R. Mendell et al.
ANNALS OF NEUROLOGY (2013)
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
Giulia Ricci et al.
BRAIN (2013)
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy
Hiroaki Mitsuhashi et al.
HUMAN MOLECULAR GENETICS (2013)
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
Gregory J. Block et al.
HUMAN MOLECULAR GENETICS (2013)
Defective Regulation of MicroRNA Target Genes in Myoblasts from Facioscapulohumeral Dystrophy Patients
Petr Dmitriev et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
Alexandra Tassin et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2013)
Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes
Anne-Valerie Gendrel et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy
Guido Stadler et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy
Katie L. Lutz et al.
NEUROLOGY (2013)
A focal domain of extreme demethylation within D4Z4 in FSHD2
Lynn M. Hartweck et al.
NEUROLOGY (2013)
Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy
Jeffrey M. Statland et al.
NEUROMUSCULAR DISORDERS (2013)
DUX4 Differentially Regulates Transcriptomes of Human Rhabdomyosarcoma and Mouse C2C12 Cells
Vishakha Sharma et al.
PLOS ONE (2013)
Multiple Protein Domains Contribute to Nuclear Import and Cell Toxicity of DUX4, a Candidate Pathogenic Protein for Facioscapulohumeral Muscular Dystrophy
Edgardo Daniel Corona et al.
PLOS ONE (2013)
Expression of the Human FSHD-Linked DUX4 Gene Induces Neurogenesis During Differentiation of Murine Embryonic Stem Cells
Abhijit Dandapat et al.
STEM CELLS AND DEVELOPMENT (2013)
Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation
Arne W. Mould et al.
EPIGENETICS & CHROMATIN (2013)
DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis
Janet M. Young et al.
PLOS GENETICS (2013)
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD
Yvonne D. Krom et al.
PLOS GENETICS (2013)
Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy
Nathalie Caruso et al.
PLOS GENETICS (2013)
Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
Isabella Scionti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient A Cellular Model for FSHD
Yvonne D. Krom et al.
AMERICAN JOURNAL OF PATHOLOGY (2012)
A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
Daphne S. Cabianca et al.
CELL (2012)
DUX4 Activates Germ line Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy
Linda N. Geng et al.
DEVELOPMENTAL CELL (2012)
Smchd1-Dependent and -Independent Pathways Determine Developmental Dynamics of CpG Island Methylation on the Inactive X Chromosome
Anne-Valerie Gendrel et al.
DEVELOPMENTAL CELL (2012)
Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD
Judit Balog et al.
EPIGENETICS (2012)
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
Takako Iida Jones et al.
HUMAN MOLECULAR GENETICS (2012)
RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy
Lindsay M. Wallace et al.
MOLECULAR THERAPY (2012)
The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy
Seth D. Friedman et al.
MUSCLE & NERVE (2012)
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
Thurman M. Wheeler et al.
NATURE (2012)
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Richard J. L. F. Lemmers et al.
NATURE GENETICS (2012)
Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis
Holly B. Kordasiewicz et al.
NEURON (2012)
Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles
Giorgio Tasca et al.
PLOS ONE (2012)
Asymmetric Bidirectional Transcription from the FSHD-Causing D4Z4 Array Modulates DUX4 Production
Gregory J. Block et al.
PLOS ONE (2012)
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers
Fedik Rahimov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Inhibition of CD26/DPP-IV enhances donor muscle cell engraftment and stimulates sustained donor cell proliferation
Maura H. Parker et al.
SKELETAL MUSCLE (2012)
DUX4, a Candidate Gene for Facioscapulohumeral Muscular Dystrophy, Causes p53-Dependent Myopathy In Vivo
Lindsay M. Wallace et al.
ANNALS OF NEUROLOGY (2011)
Human β-defensin 3 affects the activity of pro-inflammatory pathways associated with MyD88 and TRIF
Fiona Semple et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2011)
CD8+ T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI
Giovanni Frisullo et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2011)
AAV6-mediated Systemic shRNA Delivery Reverses Disease in a Mouse Model of Facioscapulohumeral Muscular Dystrophy
Sergia Bortolanza et al.
MOLECULAR THERAPY (2011)
The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression
Celine Vanderplanck et al.
PLOS ONE (2011)
Aberrant Overexpression of Satellite Repeats in Pancreatic and Other Epithelial Cancers
David T. Ting et al.
SCIENCE (2011)
Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution
Richard J. L. F. Lemmers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene
Andreas Leidenroth et al.
BMC EVOLUTIONARY BIOLOGY (2010)
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei
Peter S. Masny et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Human β-defensin 3 has immunosuppressive activity in vitro and in vivo
Fiona Semple et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2010)
Chemokine expression and control of muscle cell migration during myogenesis
Christine A. Griffin et al.
JOURNAL OF CELL SCIENCE (2010)
Clinical features of facioscapulohumeral muscular dystrophy 2
J. C. de Greef et al.
NEUROLOGY (2010)
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Richard J. L. F. Lemmers et al.
SCIENCE (2010)
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
Lauren Snider et al.
PLOS GENETICS (2010)
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
Beatrice Bodega et al.
BMC BIOLOGY (2009)
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
Fiona L. M. Norwood et al.
BRAIN (2009)
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample
M. L. Mostacciuolo et al.
CLINICAL GENETICS (2009)
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
Rinse Klooster et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
Lauren Snider et al.
HUMAN MOLECULAR GENETICS (2009)
Common Epigenetic Changes of D4Z4 in Contraction-Dependent and Contraction-Independent FSHD
Jessica C. de Greef et al.
HUMAN MUTATION (2009)
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1 gamma/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
Weihua Zeng et al.
PLOS GENETICS (2009)
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
Darko Bosnakovski et al.
EMBO JOURNAL (2008)
DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation
Darko Bosnakovski et al.
EXPERIMENTAL NEUROLOGY (2008)
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
Marnie E. Blewitt et al.
NATURE GENETICS (2008)
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
Iryna Pirozhkova et al.
PLOS ONE (2008)
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
Manjusha Dixit et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Specific sequence variations within the 4q35 region are associated with Facioscapulohumeral muscular dystrophy
Richard J. L. F. Lemmers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD
J. C. de Greef et al.
NEUROLOGY (2007)
The DUX4 gene at the FSHDIA locus encodes a pro-apoptotic protein
Valeria Kowaljow et al.
NEUROMUSCULAR DISORDERS (2007)
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy
Jannine Clapp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy
Patrick W. Reed et al.
EXPERIMENTAL NEUROLOGY (2007)
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4
K. L. Deak et al.
NEUROLOGY (2007)
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
R. J. Osborne et al.
NEUROLOGY (2007)
RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA
Vassilios Alexiadis et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION (2007)
Cutting edge:: Human β defensin 3 -: A novel antagonist of the HIV-1 coreceptor CXCR4
Zhimin Feng et al.
JOURNAL OF IMMUNOLOGY (2006)
Facioscapulohumeral muscular dystrophy
Rabi Tawil et al.
MUSCLE & NERVE (2006)
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
A Petrov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy
PGM van Overveld et al.
ANNALS OF NEUROLOGY (2005)
Ventilatory support in facioscapulohumeral muscular dystrophy
M Wohlgemuth et al.
NEUROLOGY (2004)
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
RJFL Lemmers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
T Rijkers et al.
JOURNAL OF MEDICAL GENETICS (2004)
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
ST Winokur et al.
HUMAN MOLECULAR GENETICS (2003)
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
GC Jiang et al.
HUMAN MOLECULAR GENETICS (2003)
Facioscapulohumeral muscular dystrophy -: Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers
M Butz et al.
JOURNAL OF NEUROLOGY (2003)
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
PGM van Overveld et al.
NATURE GENETICS (2003)
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
RJLF Lemmers et al.
NATURE GENETICS (2002)
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
D Gabellini et al.
CELL (2002)
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin
M van Geel et al.
GENOMICS (2002)
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis
RJLF Lernmers et al.
ANNALS OF NEUROLOGY (2001)
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
KM Flanigan et al.
NEUROMUSCULAR DISORDERS (2001)
Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
PK Grewal et al.
NATURE GENETICS (2001)
Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35
M van Geel et al.
CYTOGENETICS AND CELL GENETICS (2000)
De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
SM van der Maarel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
分享论文
