Sara T Winokur
Affiliation: University of California
- Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stressSara T Winokur
Department of Biological Chemistry, 240D, Medical Sciences I, University of California, Irvine, CA 92697, USA
Neuromuscul Disord 13:322-33. 2003....
- Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiationSara T Winokur
Department of Biological Chemistry, 202 Sprague Hall, University of California, Irvine, CA 92697, USA
Hum Mol Genet 12:2895-907. 2003..Improper nuclear localization of 4qter is discussed as an alternative model for FSHD gene regulation and pathogenesis...
- Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonucleiPeter S Masny
Department of Biological Chemistry, University of California, Irvine, CA 92697, USA
Eur J Hum Genet 18:448-56. 2010..Our data do not support an FSHD model in which contracted D4Z4 arrays induce altered transcription in cis from 4q35 genes, even for those genes (FRG1, FRG2 and SLC25A4 (ANT1)) for which such an effect has been proposed...
- Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?Peter S Masny
Department of Biological Chemistry, University of California, Irvine 92697, USA
Hum Mol Genet 13:1857-71. 2004..Interestingly, it is not D4Z4 itself that mediates interaction with the envelope, as sequences proximal to D4Z4 (i.e. D4S139) localize closer to the nuclear periphery, perhaps accounting for the chromosome 4 specificity of the disease...
- Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)Weihua Zeng
Department of Biological Chemistry, School of Medicine, University of California, Irvine, California, United States of America
PLoS Genet 5:e1000559. 2009..Based on these results, we propose a new model in which the epigenetic change initiated at 4q D4Z4 spreads its effect to other genomic regions, which compromises muscle-specific gene regulation leading to FSHD pathogenesis...
- Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regenerationMarina Bakay
Research Center for Genetic Medicine, Children s National Medical Center, Washington DC 20010, USA
Brain 129:996-1013. 2006..Our data is consistent with mutations of nuclear lamina components leading to destabilization of the transcriptome in differentiated cells...
- Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophyPetra G M Van Overveld
Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, P O Box 9502, 2300 RA Leiden, The Netherlands
Nat Genet 35:315-7. 2003..These results strongly suggest that hypomethylation of D4Z4 is a key event in the cascade of epigenetic events causing FSHD1...
- Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophyPetra G M Van Overveld
Department of Human Genetics, Center for Human and Clinical Genetics, Leiden, The Netherlands
Ann Neurol 58:569-76. 2005....