Literature DB >> 34391197

TSC1 Mosaicism Leading to Subependymal Giant Cell Astrocytoma but Not Tuberous Sclerosis Complex.

Adriana Hall1, Grant Westlake1, Brittany Parker Short1, Matthew Pearson2, Kevin C Ess3.   

Abstract

Entities:  

Keywords:  Mosaic; SEGA; TSC; mTOR

Mesh：

Substances：

Year:  2021        PMID： 34391197      PMCID： PMC8429189          DOI： 10.1016/j.pediatrneurol.2021.07.008

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   4.210


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  4 in total

1.  Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

Authors:  Jennifer A Chan; Hongbing Zhang; Penelope S Roberts; Sergiusz Jozwiak; Grajkowska Wieslawa; Joanna Lewin-Kowalik; Katarzyna Kotulska; David J Kwiatkowski
Journal:  J Neuropathol Exp Neurol       Date:  2004-12       Impact factor: 3.685

Review 2.  Evolving neurobiology of tuberous sclerosis complex.

Authors:  Peter B Crino
Journal:  Acta Neuropathol       Date:  2013-02-06       Impact factor: 17.088

Review 3.  Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.

Authors:  Yuanfeng Zhou; Xinhua Wang; Ji Wang; Yifeng Ding; Yi Wang; Hao Li; Rui Zhao; Bingbing Wu
Journal:  Childs Nerv Syst       Date:  2021-01-30       Impact factor: 1.475

4.  The genomic landscape of tuberous sclerosis complex.

Authors:  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
Journal:  Nat Commun       Date:  2017-06-15       Impact factor: 14.919
  4 in total

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