Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Sean C Shadle"'
Autor:
Amy E. Campbell, Jonathan Oliva, Matthew P. Yates, Jun Wen Zhong, Sean C. Shadle, Lauren Snider, Nikita Singh, Shannon Tai, Yosuke Hiramuki, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott, Francis M. Sverdrup
Publikováno v:
Skeletal Muscle, Vol 7, Iss 1, Pp 1-18 (2017)
Abstract Background Facioscapulohumeral dystrophy (FSHD) is a progressive muscle disease caused by mutations that lead to epigenetic derepression and inappropriate transcription of the double homeobox 4 (DUX4) gene in skeletal muscle. Drugs that enha
Externí odkaz:
https://doaj.org/article/851f6001f8d54b48828ccacb12eb6194
Publikováno v:
bioRxiv
The embryonic transcription factor DUX regulates chromatin opening and gene expression in totipotent cleavage-stage mouse embryos, and its expression in embryonic stem cells promotes their conversion to 2-cell embryo-like cells (2CLCs) with extraembr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e243944cfc4783b0565e2d015e0c7584
https://europepmc.org/articles/PMC10081216/
https://europepmc.org/articles/PMC10081216/
Autor:
Amy E Campbell, Sean C Shadle, Sujatha Jagannathan, Jong-Won Lim, Rebecca Resnick, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott
Publikováno v:
eLife, Vol 7 (2018)
The DUX4 transcription factor is encoded by a retrogene embedded in each unit of the D4Z4 macrosatellite repeat. DUX4 is normally expressed in the cleavage-stage embryo, whereas chromatin repression prevents DUX4 expression in most somatic tissues. F
Externí odkaz:
https://doaj.org/article/487a44ffb3ba49459df8237332f93997
Autor:
Paula Stein, Russell J. Butterfield, Carmen J. Williams, Roberta Menafra, Christina M. Smith, Jingtao Guo, Peter G. Hendrickson, Bradley D. Weaver, Nicholas E. Johnson, Bradley R. Cairns, Susan L. Kloet, Edward J. Grow, Silvère M. van der Maarel, Sean C. Shadle
Publikováno v:
Nature Genetics
Nat Genet
Nature Genetics, 53(8), 1207-1220. NATURE PORTFOLIO
Nat Genet
Nature Genetics, 53(8), 1207-1220. NATURE PORTFOLIO
In mammalian embryos, proper zygotic genome activation (ZGA) underlies totipotent development. Double homeobox (DUX)-family factors participate in ZGA, and mouse Dux is required for forming cultured two-cell (2C)-like cells. Remarkably, in mouse embr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c63db599f77983bc366c1288f4e89903
https://doi.org/10.1038/s41588-021-00893-0
https://doi.org/10.1038/s41588-021-00893-0
Autor:
Sean C Shadle, Jun Wen Zhong, Amy E Campbell, Melissa L Conerly, Sujatha Jagannathan, Chao-Jen Wong, Timothy D Morello, Silvère M van der Maarel, Stephen J Tapscott
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006658 (2017)
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of DUX4 in skeletal muscle cells. DUX4 is a transcription factor that activates genes normally associated with stem cell biology and its mis-expression in FSHD cells results in apop
Externí odkaz:
https://doaj.org/article/bb220183be2b4288ac3b9940563a76c0
Autor:
Chao-Jen Wong, Amy E. Campbell, Nancy A. Karreman, Sean R. Bennett, Brenda L. Bass, Silvère M. van der Maarel, Stephen J. Tapscott, Sean C. Shadle
Publikováno v:
Human Molecular Genetics, 28(23), 3997-4011. OXFORD UNIV PRESS
Human Molecular Genetics
Hum Mol Genet
Human Molecular Genetics
Hum Mol Genet
The DUX4 transcription factor is normally expressed in the cleavage-stage embryo and regulates genes involved in embryonic genome activation. Misexpression of DUX4 in skeletal muscle, however, is toxic and causes facioscapulohumeral muscular dystroph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91bf6ad42a4e6656915fbd3c875e745d
https://hdl.handle.net/1887/3214443
https://hdl.handle.net/1887/3214443
Publikováno v:
Human molecular genetics. 27(R2)
Facioscapulohumeral dystrophy (FSHD) is the third most prevalent muscular dystrophy. A progressive disease, it presents clinically as weakness and wasting of the face, shoulder and upper arm muscles, with later involvement of the trunk and lower extr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1508c85b902ce50eafc69606fd067310
https://pubmed.ncbi.nlm.nih.gov/29718206
https://pubmed.ncbi.nlm.nih.gov/29718206
Autor:
Sujatha Jagannathan, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott, Jong-Won Lim, Rebecca Resnick, Sean C. Shadle, Amy E. Campbell
Publikováno v:
eLife
eLife, 7
eLife, Vol 7 (2018)
eLife, 7
eLife, Vol 7 (2018)
The DUX4 transcription factor is encoded by a retrogene embedded in each unit of the D4Z4 macrosatellite repeat. DUX4 is normally expressed in the cleavage-stage embryo, whereas chromatin repression prevents DUX4 expression in most somatic tissues. F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc003eff0f9abc5c2e028643996a6d5f
https://hdl.handle.net/1887/77038
https://hdl.handle.net/1887/77038
Autor:
Judit Balog, Richard J.L.F. Lemmers, Marlinde L. van den Boogaard, Kirsten R. Straasheijm, Peter E. Thijssen, Stephen J. Tapscott, Rabi Tawil, Silvère M. van der Maarel, Sean C. Shadle, Yvonne D. Krom, Patrick J. van der Vliet, Annika de Jong
Publikováno v:
Epigenetics
Facioscapulohumeral muscular dystrophy is caused by incomplete epigenetic repression of the transcription factor DUX4 in skeletal muscle. A copy of DUX4 is located within each unit of the D4Z4 macrosatellite repeat array and its derepression in somat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0943770854b226100470a52a8f2f03f
https://doi.org/10.1080/15592294.2015.1113798
https://doi.org/10.1080/15592294.2015.1113798
Autor:
Rebecca Resnick, Amy E. Campbell, Rabi Tawil, Silvère M. van der Maarel, Sean C. Shadle, Jong-Won Lim, Stephen J. Tapscott, Sujatha Jagannathan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c64f44923ea1d95fda7bb359922d15b2
https://doi.org/10.7554/elife.31023.048
https://doi.org/10.7554/elife.31023.048