Literature DB >> 24840834

A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex.

Zheng Yu1, Xin Zhang, Hong Guo, Yun Bai.   

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Year:  2014        PMID： 24840834     DOI： 10.1007/s12041-014-0320-0

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  19 in total

1.  Tuberous sclerosis: epidemiology, genetics and progress towards treatment.

Authors:  Patrick J Morrison
Journal:  Neuroepidemiology       Date:  2009-11-04       Impact factor: 3.282

Review 2.  The tuberous sclerosis complex.

Authors:  Ksenia A Orlova; Peter B Crino
Journal:  Ann N Y Acad Sci       Date:  2010-01       Impact factor: 5.691

Review 3.  Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association.

Authors:  E S Roach; F J DiMario; R S Kandt; H Northrup
Journal:  J Child Neurol       Date:  1999-06       Impact factor: 1.987

4.  Mammalian target of rapamycin (mTOR) activation increases axonal growth capacity of injured peripheral nerves.

Authors:  Namiko Abe; Steven H Borson; Michael J Gambello; Fan Wang; Valeria Cavalli
Journal:  J Biol Chem       Date:  2010-07-08       Impact factor: 5.157

Review 5.  Tuberous sclerosis complex: neurological, renal and pulmonary manifestations.

Authors:  D N Franz; J J Bissler; F X McCormack
Journal:  Neuropediatrics       Date:  2011-01-05       Impact factor: 1.947

Review 6.  TSC1/TSC2 signaling in the CNS.

Authors:  Juliette M Han; Mustafa Sahin
Journal:  FEBS Lett       Date:  2011-02-15       Impact factor: 4.124

Review 7.  Evolving neurobiology of tuberous sclerosis complex.

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

Review 8.  The TSC1-TSC2 complex: a molecular switchboard controlling cell growth.

Authors:  Jingxiang Huang; Brendan D Manning
Journal:  Biochem J       Date:  2008-06-01       Impact factor: 3.857

9.  Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.

Authors:  G-X Wang; D-W Wang; C-Y Yi; J-S Qu; Y-L Wang
Journal:  Genet Mol Res       Date:  2013-04-12

10.  Genetics and molecular biology of tuberous sclerosis complex.

Authors:  Valerio Napolioni; Paolo Curatolo
Journal:  Curr Genomics       Date:  2008-11       Impact factor: 2.236
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  5 in total

Review 1.  TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

Authors:  Yu Zhang; Jing Gan; Zheng Pu; Ming ming Xu; Li feng Wang; Yu hua Li; Zhen guo Liu
Journal:  Neuromolecular Med       Date:  2015-04-22       Impact factor: 3.843

2.  [Two novel TSC2 frameshift mutations in tuberous sclerosis complex].

Authors:  Yu-Chun Pan; Wei-Qing Wu; Jian-Sheng Xie; Cai-Qun Luo; Ying Hao
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-03

3.  Importance of tuberin in carcinogenesis.

Authors:  Mingwei Jin; Qi An; Lei Wang
Journal:  Oncol Lett       Date:  2017-06-28       Impact factor: 2.967

4.  Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.

Authors:  Shan Gao; Zhiling Wang; Yongmei Xie
Journal:  Medicine (Baltimore)       Date:  2018-07       Impact factor: 1.889

5.  Dissecting the roles of the Tuberin protein in the subcellular localization of the G2/M Cyclin, Cyclin B1.

Authors:  Adam Pillon; Jessica Dare-Shih; Jackie Fong; Elizabeth Fidalgo da Silva; Lisa A Porter
Journal:  PLoS One       Date:  2022-08-10       Impact factor: 3.752
  5 in total

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