Published in Genomics on August 10, 1995
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A (2007) 3.32
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet (2009) 2.90
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell (2012) 2.29
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell (2011) 2.17
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet (2007) 2.06
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol (2010) 1.89
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med (2011) 1.80
Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. J Cell Biol (1997) 1.73
Initial genomics of the human nucleolus. PLoS Genet (2010) 1.71
Facioscapulohumeral muscular dystrophy. Neurotherapeutics (2008) 1.61
The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J Cell Biol (2004) 1.48
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
The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. PLoS Genet (2009) 1.37
RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA. Biochim Biophys Acta (2006) 1.35
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
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet (2013) 1.19
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
Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF. EMBO J (2009) 1.11
DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis. PLoS Genet (2013) 1.11
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. Hum Mol Genet (2010) 1.10
The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy. J Cell Biol (2010) 1.10
A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene. BMC Evol Biol (2010) 1.07
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med (2012) 1.06
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet (2011) 1.04
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet (2005) 1.03
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. Am J Pathol (2012) 1.00
A repetitive elements perspective in Polycomb epigenetics. Front Genet (2012) 0.97
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Proc Natl Acad Sci U S A (1999) 0.95
Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome. Genome Res (2005) 0.94
Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2013) 0.90
Hybridization analysis of D4Z4 repeat arrays linked to FSHD. Chromosoma (2006) 0.89
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res (2007) 0.89
Evolution of DUX gene macrosatellites in placental mammals. Chromosoma (2012) 0.86
Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease. Antioxid Redox Signal (2014) 0.86
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
Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs. Hum Mutat (2014) 0.84
Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy. PLoS One (2013) 0.83
Dynamics and processes of copy number instability in human gamma-globin genes. Proc Natl Acad Sci U S A (2010) 0.83
Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears. Curr Mol Med (2014) 0.79
Deciphering transcription dysregulation in FSH muscular dystrophy. J Hum Genet (2012) 0.79
Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells. PLoS One (2016) 0.77
Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation. PLoS One (2016) 0.77
Epigenetic alterations in muscular disorders. Comp Funct Genomics (2012) 0.77
Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus. PLoS One (2016) 0.76
Polycomb Repressive Complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy. Hum Mol Genet (2016) 0.75
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mamm Genome (1997) 0.75
Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage. Histochem Cell Biol (2016) 0.75
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
The DNA sequence and comparative analysis of human chromosome 20. Nature (2002) 7.40
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet (1992) 5.12
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet (1993) 4.21
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene (1999) 3.00
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet (1998) 2.77
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet (1994) 2.60
Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet (2001) 2.52
Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology (2012) 2.26
Low levels of protein C are associated with poor outcome in severe sepsis. Chest (2001) 2.05
Safety and dose relationship of recombinant human activated protein C for coagulopathy in severe sepsis. Crit Care Med (2001) 1.97
Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. Neurology (2010) 1.57
High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome. Am J Med Genet (1997) 1.56
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet (1996) 1.52
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet (2004) 1.50
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet (1996) 1.42
Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr (2001) 1.38
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet (2000) 1.37
Structure and sequence of the human homeobox gene HOX7. Genomics (1991) 1.36
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet (2000) 1.24
Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics (1994) 1.19
Conservation of long-range synteny and microsynteny between the genomes of two distantly related nematodes. Genome Biol (2002) 1.18
The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics (1999) 1.17
Design and methods of the Raloxifene Use for The Heart (RUTH) study. Am J Cardiol (2001) 1.10
Viable microorganisms in an urban atmosphere. J Air Pollut Control Assoc (1969) 1.07
From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Ann Neurol (1999) 1.04
Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements. Hum Mol Genet (1993) 1.01
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. Gene (1998) 0.99
Interaction networks in coastal soft-sediments highlight the potential for change in ecological resilience. Ecol Appl (2012) 0.97
Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35. Cytogenet Cell Genet (2000) 0.95
Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family. Chromosoma (1996) 0.95
Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet (1993) 0.94
Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscul Disord (1994) 0.92
An alternatively spliced transcript, p65 delta 2, of the gene encoding the p65 subunit of the transcription factor NF-kappa B. Gene (1994) 0.91
Sensitivity of HincII to CpG methylation. Nucleic Acids Res (1993) 0.90
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J Med Genet (1999) 0.89
Thyroid hormone effects on lactase expression by rat enterocytes. J Physiol (1986) 0.87
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers. Hum Mol Genet (1993) 0.87
Craniofacial features associated with amelogenesis imperfecta. J Craniofac Genet Dev Biol (1999) 0.87
Tau mutations in frontotemporal dementia. Dement Geriatr Cogn Disord (1999) 0.84
"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. Am J Med Genet (1999) 0.84
Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs. Am J Med Genet (1997) 0.83
Recent amplification of the human FRG1 gene during primate evolution. Gene (1999) 0.83
Glycosylation is not required for ligand or receptor binding by expressed rat intrinsic factor. Am J Physiol (1991) 0.82
Hewitt's tennis achievement test. Res Q (1966) 0.81
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. Genomics (1998) 0.81
The relation between depression and parkin genotype: the CORE-PD study. Parkinsonism Relat Disord (2011) 0.80
Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. Hum Mol Genet (1993) 0.80
Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing. Gene (1999) 0.80
Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve Suppl (1995) 0.79
Aromatase variants modify risk for Alzheimer's disease in a multiethnic female cohort. Dement Geriatr Cogn Disord (2013) 0.79
High-resolution mapping of mouse chromosome 8 identifies an evolutionary chromosomal breakpoint. Mamm Genome (1998) 0.79
The murine urea transporter genes Slc14a1 and Slc14a2 occur in tandem on chromosome 18. Cytogenet Cell Genet (1999) 0.79
Ames collaborative study of cosmic ray neutrons: mid-latitude flights. Health Phys (1978) 0.78
Binding of triiodothyronine by fully differentiated rat enterocytes. J Physiol (1986) 0.78
Localization of the cell death genes CPP32 and Mch-2 to human chromosome 4q. Mamm Genome (1997) 0.78
Estrogen receptor α variants affect age at onset of Alzheimer's disease in a multiethnic female cohort. Dement Geriatr Cogn Disord (2014) 0.78
The minor components of the rat asialoglycoprotein receptor are apically located in neonatal enterocytes. Gastroenterology (1991) 0.77
Intron loss in the SART1 genes of Fugu rubripes and Tetraodon nigroviridis. Gene (2001) 0.76
Fath, the murine homolog of the Drosophila fat tumor suppressor gene, maps to chromosome 8. Mamm Genome (1997) 0.76
Classification tests in tennis. Res Q (1968) 0.75
Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve Suppl (1995) 0.75
Radiation exposure during the biosatellite 3 primate flight. Health Phys (1972) 0.75
A search for genes in the facioscapulohumeral muscular dystrophy region. Biochem Soc Trans (1996) 0.75
Neutron capture cross section of unstable 63Ni: implications for stellar nucleosynthesis. Phys Rev Lett (2013) 0.75
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mamm Genome (1997) 0.75
Mapping of the human ribosomal small subunit protein gene RPS24 to the chromosome 10q22-q23 boundary. Genomics (1997) 0.75
Genetic analysis of glucokinase and the chromosome 20 diabetes susceptibility locus in families with type 2 diabetes. Diabet Med (1994) 0.75