Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome

CYLD cutaneous syndrome (also known as Brooke-Spiegler syndrome) is characterised by germline mutations in the tumor suppressor CYLD. Here, the authors highlight recurrent mutations in DNMT3A and BCOR, indicating a role for epigenetic dysregulation in this rare genetic skin disease.

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Autores principales:	Helen R. Davies, Kirsty Hodgson, Edward Schwalbe, Jonathan Coxhead, Naomi Sinclair, Xueqing Zou, Simon Cockell, Akhtar Husain, Serena Nik-Zainal, Neil Rajan
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/455161ea0e7d48609e0545f51dafe8d6
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spelling	oai:doaj.org-article:455161ea0e7d48609e0545f51dafe8d62021-12-02T17:02:00ZEpigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome10.1038/s41467-019-12746-w2041-1723https://doaj.org/article/455161ea0e7d48609e0545f51dafe8d62019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12746-whttps://doaj.org/toc/2041-1723CYLD cutaneous syndrome (also known as Brooke-Spiegler syndrome) is characterised by germline mutations in the tumor suppressor CYLD. Here, the authors highlight recurrent mutations in DNMT3A and BCOR, indicating a role for epigenetic dysregulation in this rare genetic skin disease.Helen R. DaviesKirsty HodgsonEdward SchwalbeJonathan CoxheadNaomi SinclairXueqing ZouSimon CockellAkhtar HusainSerena Nik-ZainalNeil RajanNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Helen R. Davies Kirsty Hodgson Edward Schwalbe Jonathan Coxhead Naomi Sinclair Xueqing Zou Simon Cockell Akhtar Husain Serena Nik-Zainal Neil Rajan Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
description	CYLD cutaneous syndrome (also known as Brooke-Spiegler syndrome) is characterised by germline mutations in the tumor suppressor CYLD. Here, the authors highlight recurrent mutations in DNMT3A and BCOR, indicating a role for epigenetic dysregulation in this rare genetic skin disease.
format	article
author	Helen R. Davies Kirsty Hodgson Edward Schwalbe Jonathan Coxhead Naomi Sinclair Xueqing Zou Simon Cockell Akhtar Husain Serena Nik-Zainal Neil Rajan
author_facet	Helen R. Davies Kirsty Hodgson Edward Schwalbe Jonathan Coxhead Naomi Sinclair Xueqing Zou Simon Cockell Akhtar Husain Serena Nik-Zainal Neil Rajan
author_sort	Helen R. Davies
title	Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
title_short	Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
title_full	Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
title_fullStr	Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
title_full_unstemmed	Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
title_sort	epigenetic modifiers dnmt3a and bcor are recurrently mutated in cyld cutaneous syndrome
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/455161ea0e7d48609e0545f51dafe8d6
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Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome

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