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Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-04817-8
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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
Global and gene-specific analyses show distinct roles for Myod and Myog at a common set of promoters.
- Published in:
- EMBO Journal, 2006, v. 25, n. 3, p. 502, doi. 10.1038/sj.emboj.7600958
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- Publication type:
- Article
Requirement of the mouse I-mfa gene for placental development and skeletal patterning.
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- EMBO Journal, 1998, v. 17, n. 21, p. 6276, doi. 10.1093/emboj/17.21.6276
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- Publication type:
- Article
Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy.
- Published in:
- eLife, 2019, p. 1, doi. 10.7554/eLife.41740
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- Publication type:
- Article
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.04996.001
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- Publication type:
- Article
Activation of Notch Signaling During Ex Vivo Expansion Maintains Donor Muscle Cell Engraftment.
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- Stem Cells, 2012, v. 30, n. 10, p. 2212, doi. 10.1002/stem.1181
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- Publication type:
- Article
BMP-2 mediates retinoid-induced apoptosis in medulloblastoma cells through a paracrine effect.
- Published in:
- Nature Medicine, 2003, v. 9, n. 8, p. 1033, doi. 10.1038/nm904
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- Publication type:
- Article
Genome-wide analysis of palindrome formation.
- Published in:
- 2010
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- Publication type:
- Letter
Corrigendum: Widespread and nonrandom distribution of DNA palindromes in cancer cells provides a structural platform for subsequent gene amplification.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Widespread and nonrandom distribution of DNA palindromes in cancer cells provides a structural platform for subsequent gene amplification.
- Published in:
- Nature Genetics, 2005, v. 37, n. 3, p. 320, doi. 10.1038/ng1515
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- Publication type:
- Article
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 335, doi. 10.1038/ng570
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- Publication type:
- Article
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy.
- Published in:
- Nature Genetics, 2000, v. 25, n. 1, p. 105, doi. 10.1038/75490
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- Publication type:
- Article
p38 MAPK signaling regulates recruitment of Ash2L-containing methyltransferase complexes to specific genes during differentiation.
- Published in:
- Nature Structural & Molecular Biology, 2007, v. 14, n. 12, p. 1150, doi. 10.1038/nsmb1316
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- Publication type:
- Article
A fragment of the neurogenin1 gene confers regulated expression of a reporter gene in vitro and in vivo.
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- Developmental Dynamics, 2000, v. 218, n. 1, p. 189, doi. 10.1002/(SICI)1097-0177(200005)218:1<189::AID-DVDY16>3.0.CO;2-4
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- Publication type:
- Article
Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0172-z
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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
BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0134-x
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- Publication type:
- Article
miR-206 integrates multiple components of differentiation pathways to control the transition from growth to differentiation in rhabdomyosarcoma cells.
- Published in:
- Skeletal Muscle, 2012, v. 2, n. 1, p. 7, doi. 10.1186/2044-5040-2-7
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- Publication type:
- Article
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.
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- Skeletal Muscle, 2014, v. 4, n. 1, p. 1, doi. 10.1186/2044-5040-4-12
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- Publication type:
- Article
Comparison of endogenous and overexpressed MyoD shows enhanced binding of physiologically bound sites.
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- Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-8
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- Publication type:
- Article
Activation of Pax7-Positive Cells in a Non-Contractile Tissue Contributes to Regeneration of Myogenic Tissues in the Electric Fish S. macrurus.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036819
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- Publication type:
- Article
Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.
- Published in:
- 2015
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- Publication type:
- journal article
Myotonic dystrophy, 3rd edition, by P. Harper, 436 pp., ill., London, W.B. Saunders, 2001, $85.
- Published in:
- Muscle & Nerve, 2002, v. 25, n. 6, p. 926, doi. 10.1002/mus.1238
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- Publication type:
- Article
AI driven analysis of MRI to measure health and disease progression in FSHD.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65802-x
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- Publication type:
- Article
TWIST1 Heterodimerization with E12 Requires Coordinated Protein Phosphorylation to Regulate Periostin Expression.
- Published in:
- Cancers, 2019, v. 11, n. 9, p. 1392, doi. 10.3390/cancers11091392
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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
Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages.
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- EMBO Journal, 2011, v. 30, n. 3, p. 494, doi. 10.1038/emboj.2010.342
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- Publication type:
- Article
Successful Regional Delivery and Long-term Expression of a Dystrophin Gene in Canine Muscular Dystrophy: A Preclinical Model for Human Therapies.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 8, p. 1501, doi. 10.1038/mt.2012.111
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- Publication type:
- Article
A conserved motif N-terminal to the DNA-binding domains of myogenic bHLH transcription factors mediates cooperative DNA binding with Pbx–Meis1/Prep1.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 18, p. 3752, doi. 10.1093/nar/27.18.3752
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- Publication type:
- Article
Networking the nucleus.
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- Molecular Systems Biology, 2010, v. 6, n. 1, p. 1, doi. 10.1038/msb.2010.48
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- Publication type:
- Article
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 8, p. 698, doi. 10.1093/hmg/ddae007
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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
Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 11, p. 1864, doi. 10.1093/hmg/ddad021
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- Publication type:
- Article
Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy.
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- 2021
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- Publication type:
- journal article
Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The transcription factor DUX4 orchestrates translational reprogramming by broadly suppressing translation efficiency and promoting expression of DUX4-induced mRNAs.
- Published in:
- PLoS Biology, 2023, v. 21, n. 9, p. 1, doi. 10.1371/journal.pbio.3002317
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- Publication type:
- Article
Inhibition of mammalian muscle differentiation by regeneration blastema extract of Sternopygus macrurus.
- Published in:
- Developmental Dynamics, 2008, v. 237, n. 10, p. 2830, doi. 10.1002/dvdy.21702
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- Publication type:
- Article
Reciprocal inhibition between Pax7 and muscle regulatory factors modulates myogenic cell fate determination.
- Published in:
- Journal of Cell Biology, 2007, v. 177, n. 5, p. 769, doi. 10.1083/jcb.200608122
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- Publication type:
- Article
MyoD inhibits Fstl 1 and Utrn expression by inducing transcription of miR-206.
- Published in:
- Journal of Cell Biology, 2006, v. 175, n. 1, p. 77, doi. 10.1083/jcb.200603039
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- Publication type:
- Article
Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.82057
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- Publication type:
- Article
Elevated plasma complement components in facioscapulohumeral dystrophy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 11, p. 1821, doi. 10.1093/hmg/ddab364
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- Publication type:
- Article
Canine DUXC: implications for DUX4 retrotransposition and preclinical models of FSHD.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 10, p. 1694, doi. 10.1093/hmg/ddab352
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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
MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 3, p. 476, doi. 10.1093/hmg/ddy364
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- Publication type:
- Article
Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle.
- Published in:
- Human Molecular Genetics, 2018, v. 27, p. R153, doi. 10.1093/hmg/ddy162
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- Publication type:
- Article
Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2644, doi. 10.1093/hmg/ddy173
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- Publication type:
- Article
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 716, doi. 10.1093/hmg/ddx437
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- Publication type:
- Article
Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4419, doi. 10.1093/hmg/ddw271
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- Publication type:
- Article
DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4817, doi. 10.1093/hmg/ddv206
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- Publication type:
- Article