The genomic landscape of tuberous sclerosis complex
The genomic landscape of tuberous sclerosis complex
About this item
Full title
Author / Creator
Martin, Katie R. , Zhou, Wanding , Bowman, Megan J. , Shih, Juliann , Au, Kit Sing , Dittenhafer-Reed, Kristin E. , Sisson, Kellie A. , Koeman, Julie , Weisenberger, Daniel J. , Cottingham, Sandra L. , DeRoos, Steven T. , Devinsky, Orrin , Winn, Mary E. , Cherniack, Andrew D. , Shen, Hui , Northrup, Hope , Krueger, Darcy A. and MacKeigan, Jeffrey P.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with
TSC1
or
TSC2
mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to
Alternative Titles
Full title
The genomic landscape of tuberous sclerosis complex
Authors, Artists and Contributors
Author / Creator
Zhou, Wanding
Bowman, Megan J.
Shih, Juliann
Au, Kit Sing
Dittenhafer-Reed, Kristin E.
Sisson, Kellie A.
Koeman, Julie
Weisenberger, Daniel J.
Cottingham, Sandra L.
DeRoos, Steven T.
Devinsky, Orrin
Winn, Mary E.
Cherniack, Andrew D.
Shen, Hui
Northrup, Hope
Krueger, Darcy A.
MacKeigan, Jeffrey P.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cce878691c884b4cbf1df21c1d12c2c9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cce878691c884b4cbf1df21c1d12c2c9
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms15816
