The genomic landscape of tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem tumour growth. Here the authors analyse 111 TSC-associated tissues for TSC1/TSC2 status, DNA mutations, copy number aberrations, differential gene expression and DNA methylation patterns providing a comprehensive genomic...

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Autores principales: Katie R. Martin, Wanding Zhou, Megan J. Bowman, Juliann Shih, Kit Sing Au, Kristin E. Dittenhafer-Reed, Kellie A. Sisson, Julie Koeman, Daniel J. Weisenberger, Sandra L. Cottingham, Steven T. DeRoos, Orrin Devinsky, Mary E. Winn, Andrew D. Cherniack, Hui Shen, Hope Northrup, Darcy A. Krueger, Jeffrey P. MacKeigan
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Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/cce878691c884b4cbf1df21c1d12c2c9
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spelling oai:doaj.org-article:cce878691c884b4cbf1df21c1d12c2c92021-12-02T17:06:12ZThe genomic landscape of tuberous sclerosis complex10.1038/ncomms158162041-1723https://doaj.org/article/cce878691c884b4cbf1df21c1d12c2c92017-06-01T00:00:00Zhttps://doi.org/10.1038/ncomms15816https://doaj.org/toc/2041-1723Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem tumour growth. Here the authors analyse 111 TSC-associated tissues for TSC1/TSC2 status, DNA mutations, copy number aberrations, differential gene expression and DNA methylation patterns providing a comprehensive genomic landscape.Katie R. MartinWanding ZhouMegan J. BowmanJuliann ShihKit Sing AuKristin E. Dittenhafer-ReedKellie A. SissonJulie KoemanDaniel J. WeisenbergerSandra L. CottinghamSteven T. DeRoosOrrin DevinskyMary E. WinnAndrew D. CherniackHui ShenHope NorthrupDarcy A. KruegerJeffrey P. MacKeiganNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Katie R. Martin
Wanding Zhou
Megan J. Bowman
Juliann Shih
Kit Sing Au
Kristin E. Dittenhafer-Reed
Kellie A. Sisson
Julie Koeman
Daniel J. Weisenberger
Sandra L. Cottingham
Steven T. DeRoos
Orrin Devinsky
Mary E. Winn
Andrew D. Cherniack
Hui Shen
Hope Northrup
Darcy A. Krueger
Jeffrey P. MacKeigan
The genomic landscape of tuberous sclerosis complex
description Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem tumour growth. Here the authors analyse 111 TSC-associated tissues for TSC1/TSC2 status, DNA mutations, copy number aberrations, differential gene expression and DNA methylation patterns providing a comprehensive genomic landscape.
format article
author Katie R. Martin
Wanding Zhou
Megan J. Bowman
Juliann Shih
Kit Sing Au
Kristin E. Dittenhafer-Reed
Kellie A. Sisson
Julie Koeman
Daniel J. Weisenberger
Sandra L. Cottingham
Steven T. DeRoos
Orrin Devinsky
Mary E. Winn
Andrew D. Cherniack
Hui Shen
Hope Northrup
Darcy A. Krueger
Jeffrey P. MacKeigan
author_facet Katie R. Martin
Wanding Zhou
Megan J. Bowman
Juliann Shih
Kit Sing Au
Kristin E. Dittenhafer-Reed
Kellie A. Sisson
Julie Koeman
Daniel J. Weisenberger
Sandra L. Cottingham
Steven T. DeRoos
Orrin Devinsky
Mary E. Winn
Andrew D. Cherniack
Hui Shen
Hope Northrup
Darcy A. Krueger
Jeffrey P. MacKeigan
author_sort Katie R. Martin
title The genomic landscape of tuberous sclerosis complex
title_short The genomic landscape of tuberous sclerosis complex
title_full The genomic landscape of tuberous sclerosis complex
title_fullStr The genomic landscape of tuberous sclerosis complex
title_full_unstemmed The genomic landscape of tuberous sclerosis complex
title_sort genomic landscape of tuberous sclerosis complex
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/cce878691c884b4cbf1df21c1d12c2c9
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