Published in J Mol Med (Berl) on November 17, 2004
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A (2007) 3.32
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J (2008) 2.74
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell (2011) 2.17
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol (2010) 1.89
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res (2008) 1.45
DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level. PLoS One (2014) 1.44
Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. J Cell Mol Med (2008) 1.42
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci U S A (2006) 1.32
Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS One (2009) 1.25
A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res (2007) 1.17
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS One (2009) 1.12
Gene expression during normal and FSHD myogenesis. BMC Med Genomics (2011) 1.12
The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy. J Cell Biol (2010) 1.10
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle. Hum Mol Genet (2014) 1.06
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet (2011) 1.04
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. PLoS One (2008) 1.01
RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. Mol Ther (2012) 1.00
The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. J Biol Chem (2011) 0.91
Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice. Biol Open (2012) 0.90
Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death. Oxid Med Cell Longev (2013) 0.87
Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. J Biol Chem (2013) 0.85
Hypermethylation of genomic 3.3-kb repeats is frequent event in HPV-positive cervical cancer. BMC Med Genomics (2009) 0.85
DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2. Nucleic Acids Res (2009) 0.85
Alternative splicing and muscular dystrophy. RNA Biol (2010) 0.83
Direct interplay between two candidate genes in FSHD muscular dystrophy. Hum Mol Genet (2014) 0.80
Alterations in voltage-sensing of the mitochondrial permeability transition pore in ANT1-deficient cells. Sci Rep (2016) 0.80
A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles. Stem Cells Transl Med (2016) 0.79
Deciphering transcription dysregulation in FSH muscular dystrophy. J Hum Genet (2012) 0.79
FSHD myotubes with different phenotypes exhibit distinct proteomes. PLoS One (2012) 0.78
Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation. PLoS One (2016) 0.77
ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy. Nucleic Acids Res (2015) 0.76
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells. Sci Rep (2017) 0.75
Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD). Genes (Basel) (2017) 0.75
Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy. Elife (2016) 0.75
Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage. Histochem Cell Biol (2016) 0.75
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Mitotic remodeling of the replicon and chromosome structure. Cell (2005) 2.44
Only Akt1 is required for proliferation, while Akt2 promotes cell cycle exit through p21 binding. Mol Cell Biol (2006) 2.01
A newly discovered function for RNase L in regulating translation termination. Nat Struct Mol Biol (2005) 1.80
Insulin and wnt1 pathways cooperate to induce reserve cell activation in differentiation and myotube hypertrophy. Mol Biol Cell (2004) 1.52
Use of the Faces Pain Scale by left and right hemispheric stroke patients. Pain (2006) 1.47
Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects. J Cell Mol Med (2008) 1.42
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol (2010) 1.38
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. PLoS Genet (2009) 1.37
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci U S A (2006) 1.32
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. Am J Hum Genet (2013) 1.25
AMPK activation stimulates autophagy and ameliorates muscular dystrophy in the mdx mouse diaphragm. Am J Pathol (2012) 1.24
Chromosome conformation capture (from 3C to 5C) and its ChIP-based modification. Methods Mol Biol (2009) 1.20
MyoD distal regulatory region contains an SRF binding CArG element required for MyoD expression in skeletal myoblasts and during muscle regeneration. Mol Biol Cell (2003) 1.19
A functionally dominant mitochondrial DNA mutation. Hum Mol Genet (2008) 1.17
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat (2008) 1.14
Muscle-derived stem cells isolated as non-adherent population give rise to cardiac, skeletal muscle and neural lineages. Exp Cell Res (2008) 1.13
Inhibition of Notch signaling induces myotube hypertrophy by recruiting a subpopulation of reserve cells. J Cell Physiol (2006) 1.13
A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul Disord (2011) 1.10
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials. Eur J Paediatr Neurol (2011) 1.08
Functional cdc25C dual-specificity phosphatase is required for S-phase entry in human cells. Mol Biol Cell (2003) 1.08
DNA replication initiates at domains overlapping with nuclear matrix attachment regions in the xenopus and mouse c-myc promoter. Gene (2004) 1.08
Akt1 and Akt2: differentiating the aktion. Histol Histopathol (2011) 1.08
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Eur J Hum Genet (2006) 1.08
Modulation of p38 mitogen-activated protein kinase cascade and metalloproteinase activity in diaphragm muscle in response to free radical scavenger administration in dystrophin-deficient Mdx mice. Am J Pathol (2007) 1.07
Isolation of a highly myogenic CD34-negative subset of human skeletal muscle cells free of adipogenic potential. Stem Cells (2010) 1.06
HIV-1 Tat-associated RNA polymerase C-terminal domain kinase, CDK2, phosphorylates CDK7 and stimulates Tat-mediated transcription. Biochem J (2002) 1.05
Simultaneous miRNA and mRNA transcriptome profiling of human myoblasts reveals a novel set of myogenic differentiation-associated miRNAs and their target genes. BMC Genomics (2013) 1.04
High resolution genome-wide analysis of chromosomal alterations in Burkitt's lymphoma. PLoS One (2009) 1.03
Identification of a new hybrid serum response factor and myocyte enhancer factor 2-binding element in MyoD enhancer required for MyoD expression during myogenesis. Mol Biol Cell (2007) 1.02
Development of a French isometric strength normative database for adults using quantitative muscle testing. Arch Phys Med Rehabil (2007) 1.02
The epigenetic landscape of mammary gland development and functional differentiation. J Mammary Gland Biol Neoplasia (2010) 1.02
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. PLoS One (2008) 1.01
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy. Neuromuscul Disord (2009) 1.01
Akt2 is implicated in skeletal muscle differentiation and specifically binds Prohibitin2/REA. J Cell Physiol (2008) 1.00
Aldehyde dehydrogenase activity promotes survival of human muscle precursor cells. J Cell Mol Med (2011) 0.99
Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction. Free Radic Biol Med (2012) 0.99
Adaptive support ventilation prevents ventilator-induced diaphragmatic dysfunction in piglet: an in vivo and in vitro study. Anesthesiology (2010) 0.98
ASAP is a novel substrate of the oncogenic mitotic kinase Aurora-A: phosphorylation on Ser625 is essential to spindle formation and mitosis. Hum Mol Genet (2007) 0.95
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. Hum Mol Genet (2013) 0.94
Physical activity and sarcopenia. Clin Geriatr Med (2011) 0.93
Eukaryotic enhancers: common features, regulation, and participation in diseases. Cell Mol Life Sci (2015) 0.93
Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle. Stem Cells (2010) 0.92
Grape polyphenols prevent fructose-induced oxidative stress and insulin resistance in first-degree relatives of type 2 diabetic patients. Diabetes Care (2012) 0.92
The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. J Biol Chem (2011) 0.91
Increased chromatin association of Sp1 in interphase cells by PP2A-mediated dephosphorylations. J Mol Biol (2006) 0.91
Dietary antioxidants: Do they have a role to play in the ongoing fight against abnormal glucose metabolism? Nutrition (2012) 0.91
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. Biochem Biophys Res Commun (2005) 0.90
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Hum Mol Genet (2013) 0.90
Myostatin up-regulation is associated with the skeletal muscle response to hypoxic stimuli. Mol Cell Endocrinol (2010) 0.90
MiR-34a is up-regulated in response to low dose, low energy X-ray induced DNA damage in breast cells. Radiat Oncol (2013) 0.89
Endoribonuclease L (RNase L) regulates the myogenic and adipogenic potential of myogenic cells. PLoS One (2009) 0.88
Linking PCNA-dependent replication and ATR by human Claspin. Biochem Biophys Res Commun (2007) 0.88
Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. J Biol Chem (2013) 0.85
Inhibition of autocrine secretion of myostatin enhances terminal differentiation in human rhabdomyosarcoma cells. Oncogene (2003) 0.85
An enhancer directs differential expression of the linked Mrf4 and Myf5 myogenic regulatory genes in the mouse. Dev Biol (2004) 0.85
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J Med Genet (2011) 0.85
Schwannian crystalline-like inclusions bodies (Fardeau-Engel bodies) revisited in peripheral neuropathies. Ultrastruct Pathol (2002) 0.85
Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition? J Neurol (2009) 0.85
TULA proteins bind to ABCE-1, a host factor of HIV-1 assembly, and inhibit HIV-1 biogenesis in a UBA-dependent fashion. Virology (2007) 0.84
Impaired muscle regeneration and myoblast differentiation in mice with a muscle-specific KO of IGF-IR. J Cell Physiol (2010) 0.84
Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients. Arch Phys Med Rehabil (2010) 0.83
Intracellular retention of caveolin 1 in presenilin-deficient cells. J Biol Chem (2004) 0.83
Stress and the urge to drink. Addict Behav (2003) 0.82
Optimal whole-body vibration settings for muscle strength and power enhancement in human knee extensors. J Electromyogr Kinesiol (2010) 0.82
Reduced myotube diameter, atrophic signalling and elevated oxidative stress in cultured satellite cells from COPD patients. J Cell Mol Med (2014) 0.81
Chronic ankle instability and common fibular nerve injury. Joint Bone Spine (2010) 0.81
Can malondialdehyde be used as a biological marker of progression in neurodegenerative disease? J Neurol (2002) 0.81
Macromolecular uptake is a spontaneous event during mitosis in cultured fibroblasts: implications for vector-dependent plasmid transfection. Mol Biol Cell (2002) 0.81
Crow-Fukase (POEMS) syndrome: a study of peripheral nerve biopsy in five new cases. J Peripher Nerv Syst (2003) 0.81
Distinct pools of cdc25C are phosphorylated on specific TP sites and differentially localized in human mitotic cells. PLoS One (2010) 0.80
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Arch Neurol (2003) 0.80
Evolution of quality of life, mental health, and coping strategies in amyotrophic lateral sclerosis: a pilot study. J Palliat Med (2012) 0.79
Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative study. J Neurol (2014) 0.79
Determination of the chromatin domain structure in arrayed repeat regions: organization of the somatic 5S RNA domain during embryogenesis in Xenopus laevis. J Cell Biochem (2007) 0.79
Comparative protein expression profiling in human cumulus cells in relation to oocyte fertilization and ovarian stimulation protocol. Reprod Biomed Online (2006) 0.79
Glutathione peroxidase 3, a new retinoid target gene, is crucial for human skeletal muscle precursor cell survival. J Cell Sci (2012) 0.78
Pathological pattern of Mdx mice diaphragm correlates with gradual expression of the short utrophin isoform Up71. Biochim Biophys Acta (2006) 0.78
Epigenetic modifications, chromatin distribution and TP53 transcription in a model of breast cancer progression. J Cell Biochem (2015) 0.78
Transient induction of cyclin A in loaded chicken skeletal muscle. J Appl Physiol (1985) (2003) 0.78
Retirees' social identity and satisfaction with retirement. Int J Aging Hum Dev (2008) 0.78
Characterization of the Akt2 domain essential for binding nuclear p21cip1 to promote cell cycle arrest during myogenic differentiation. PLoS One (2013) 0.78
The effect of respiratory muscle training with CO2 breathing on cellular adaptation of mdx mouse diaphragm. Neuromuscul Disord (2005) 0.78
The influence of systemic inflammation on skeletal muscle in physically active elderly women. Age (Dordr) (2014) 0.77
The impact of active coping strategies on survival in ALS: the first pilot study. Amyotroph Lateral Scler (2012) 0.77
Perceptions of and satisfaction with retirement: a comparison of six European union countries. Psychol Aging (2005) 0.76
Ring-like distribution of constitutive heterochromatin in bovine senescent cells. PLoS One (2011) 0.76
Loop domain organization of the p53 locus in normal and breast cancer cells correlates with the transcriptional status of the TP53 and the neighboring genes. J Cell Biochem (2011) 0.76
The relation between self-determination and retirement satisfaction among active retired individuals. Int J Aging Hum Dev (2008) 0.76
Differences in transcription patterns between induced pluripotent stem cells produced from the same germ layer are erased upon differentiation. PLoS One (2013) 0.76
Uncompacted myelin lamellae in peripheral nerve biopsy. Ultrastruct Pathol (2003) 0.76
Development-dependent changes in the tight DNA-protein complexes of barley on chromosome and gene level. BMC Plant Biol (2009) 0.75
Cancer-related genes in the transcription signature of facioscapulohumeral dystrophy myoblasts and myotubes. J Cell Mol Med (2013) 0.75
Basic science in Russia under threat. Nature (2010) 0.75