Literature DB >> 15121792

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.

K Mayer1, M Goedbloed, K van Zijl, M Nellist, H-D Rott.   

Abstract

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Year:  2004        PMID： 15121792      PMCID： PMC1735780          DOI： 10.1136/jmg.2003.010835

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  16 in total

Review 1.  Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway.

Authors:  Jaroslaw Jozwiak; Sergiusz Jozwiak; Tomasz Grzela; Maciej Lazarczyk
Journal:  Neuromolecular Med       Date:  2005       Impact factor: 3.843

Review 2.  Epilepsy secondary to tuberous sclerosis: lessons learned and current challenges.

Authors:  Romina Moavero; Caterina Cerminara; Paolo Curatolo
Journal:  Childs Nerv Syst       Date:  2010-04-01       Impact factor: 1.475

3.  [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

4.  Evidence for population variation in TSC1 and TSC2 gene expression.

Authors:  Garilyn M Jentarra; Stephen G Rice; Shannon Olfers; David Saffen; Vinodh Narayanan
Journal:  BMC Med Genet       Date:  2011-02-23       Impact factor: 2.103

5.  Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

Authors:  Agnies M van Eeghen; Margaux E Black; Margaret B Pulsifer; David J Kwiatkowski; Elizabeth A Thiele
Journal:  Eur J Hum Genet       Date:  2011-12-21       Impact factor: 4.246

6.  A reliable cell-based assay for testing unclassified TSC2 gene variants.

Authors:  Ricardo Coevoets; Sermin Arican; Marianne Hoogeveen-Westerveld; Erik Simons; Ans van den Ouweland; Dicky Halley; Mark Nellist
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

Review 7.  A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.

Authors:  David M Feliciano; Tiffany V Lin; Nathaniel W Hartman; Christopher M Bartley; Cathryn Kubera; Lawrence Hsieh; Carlos Lafourcade; Rachel A O'Keefe; Angelique Bordey
Journal:  Int J Dev Neurosci       Date:  2013-02-26       Impact factor: 2.457

8.  Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.

Authors:  S E Camposano; E Greenberg; D J Kwiatkowski; E A Thiele
Journal:  Ann Hum Genet       Date:  2008-12-23       Impact factor: 1.670

9.  Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.

Authors:  M Glushkova; V Bojinova; M Koleva; P Dimova; M Bojidarova; I Litvinenko; T Todorov; E Iluca; C Calusaru; E Neagu; D Craiu; V Mitev; A Todorova
Journal:  J Genet       Date:  2018-06       Impact factor: 1.166

10.  Molecular mechanism of regulation of OGG1: tuberin deficiency results in cytoplasmic redistribution of transcriptional factor NF-YA.

Authors:  Samy L Habib
Journal:  J Mol Signal       Date:  2009-12-29
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