Found: 18
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Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
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- Publication type:
- Article
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 284, doi. 10.1093/hmg/ddad186
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- Publication type:
- Article
SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05053-0
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- Publication type:
- Article
Hippocampal glucocorticoid target genes associated with enhancement of memory consolidation.
- Published in:
- European Journal of Neuroscience, 2022, v. 55, n. 9/10, p. 2666, doi. 10.1111/ejn.15226
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- Publication type:
- Article
A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03030-3
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- Publication type:
- Article
Characterisation of transcription factor profiles in polycystic kidney disease (PKD): identification and validation of STAT3 and RUNX1 in the injury/repair response and PKD progression.
- Published in:
- Journal of Molecular Medicine, 2019, v. 97, n. 12, p. 1643, doi. 10.1007/s00109-019-01852-3
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- Publication type:
- Article
Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1064, doi. 10.1093/hmg/ddy400
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- Publication type:
- Article
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0129-7
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- Publication type:
- Article
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 659, doi. 10.1093/hmg/ddu486
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- Publication type:
- Article
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5342, doi. 10.1093/hmg/ddu251
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- Publication type:
- Article
Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 998, doi. 10.1002/humu.22593
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- Publication type:
- Article
DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 11, p. 1, doi. 10.1371/journal.pgen.1003947
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- Publication type:
- Article
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.
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- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003415
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- Publication type:
- Article
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454
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- Publication type:
- Article
Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 185, doi. 10.1038/ejhg.2011.150
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- Publication type:
- Article
RESEARCH ARTICLE Open Access A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells.
- Published in:
- BMC Neuroscience, 2012, v. 13, n. 1, p. 118, doi. 10.1186/1471-2202-13-118
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- Publication type:
- Article
A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells.
- Published in:
- 2012
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- Publication type:
- journal article
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD).
- Published in:
- PLoS Genetics, 2009, v. 5, n. 7, p. 1, doi. 10.1371/journal.pgen.1000559
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- Publication type:
- Article