PMC Links for Nucleotide (Select 254039583) - PMC

Select item 27350301.

The TSC1–TSC2 complex: a molecular switchboard controlling cell growth

Jingxiang HUANG, Brendan D. MANNING

Biochem J. Author manuscript; available in PMC 2009 Aug 31.

Published in final edited form as: Biochem J. 2008 Jun 1; 412(2): 179–190. doi: 10.1042/BJ20080281

PMCID:: PMC2735030

Article PDF–1.2M

Select item 24231202.

The TSC1-TSC2 Complex Is Required for Proper Activation of mTOR Complex 2

Jingxiang Huang, Christian C. Dibble, Mika Matsuzaki, Brendan D. Manning

Mol Cell Biol. 2008 Jun; 28(12): 4104–4115. Published online 2008 Apr 14. doi: 10.1128/MCB.00289-08

PMCID:: PMC2423120

Article PDF–956K

Select item 64656713.

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period

Ori Eyal, Michal Berkenstadt, Haike Reznik‐Wolf, Hana Poran, Tomer Ziv‐Baran, Lior Greenbaum, Hagit Yonath, Elon Pras

Mol Genet Genomic Med. 2019 Apr; 7(4): e00573. Published online 2019 Jan 28. doi: 10.1002/mgg3.573

PMCID:: PMC6465671

Article PDF–401K

Select item 63864484.

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

Tetsuaki Shoji, Satoshi Konno, Yo Niida, Takahiro Ogi, Masaru Suzuki, Kaoruko Shimizu, Yasuhiro Hida, Kichizo Kaga, Kuniaki Seyama, Tomoaki Naka, Yoshihiro Matsuno, Masaharu Nishimura

PLoS One. 2019; 14(2): e0212370. Published online 2019 Feb 22. doi: 10.1371/journal.pone.0212370

PMCID:: PMC6386448

Article PDF–2.2M

Select item 57119015.

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Socratis Avgeris, Florentia Fostira, Andromachi Vagena, Yiannis Ninios, Angeliki Delimitsou, Radek Vodicka, Radek Vrtel, Sotirios Youroukos, Dimitrios J. Stravopodis, Metaxia Vlassi, Aristotelis Astrinidis, Drakoulis Yannoukakos, Gerassimos E. Voutsinas

Sci Rep. 2017; 7: 16697. Published online 2017 Dec 1. doi: 10.1038/s41598-017-16988-w

PMCID:: PMC5711901

Article PDF–1.4M

Select item 56846296.

A Tuberous Sclerosis Family with TSC1 (c.1030-1G>A) Mutation Found through a Female Presenting as Multiple Ground Glass Nodules in Chest Computed Tomography Incidentally

Ting-Ting Zhao, Yong-Sheng Wang, Yan Li, Miao Ma, Ai-Mei Li, Hou-Rong Cai, Xiang-Shan Fan, Fan-Qing Meng, Li-Yun Miao

Chin Med J (Engl) 2017 Oct 20; 130(20): 2510–2512. doi: 10.4103/0366-6999.216418

PMCID:: PMC5684629

Article PDF–743K

Select item 51179347.

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Iris E Overwater, Rob Swenker, Emma L van der Ende, Kimberley BM Hanemaayer, Marianne Hoogeveen-Westerveld, Agnies M van Eeghen, Maarten H Lequin, Ans MW van den Ouweland, Henriëtte A Moll, Mark Nellist, Marie-Claire Y de Wit

Eur J Hum Genet. 2016 Dec; 24(12): 1688–1695. Published online 2016 Jul 13. doi: 10.1038/ejhg.2016.85

PMCID:: PMC5117934

Article PDF–1.5M

Select item 33972578.

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021

PMCID:: PMC3397257

Article PDF–506K

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