Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC2
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1
TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy.
García-Aguilar A et al.
Biochimica Et Biophysica Acta, 2016
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2011
Genetics and molecular biology of tuberous sclerosis complex.
Napolioni V et al.
Current Genomics, 2008
The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27.
Rosner M et al.
Mutation Research, 2006
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Nellist M et al.
European Journal of Human Genetics : Ejhg, 2005
Inactivation of the tuberous sclerosis complex-1 and -2 gene products occurs by phosphoinositide 3-kinase/Akt-dependent and -independent phosphorylation of tuberin.
Tee AR et al.
The Journal of Biological Chemistry, 2003
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.
Tee AR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2002
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
Nellist M et al.
Human Molecular Genetics, 2001
Abstracts of the International School of Neurological Sciences 11th annual meeting of the child neurology section. Venice, Italy, September 28-29, 2001.
Unknown Author
Journal of Child Neurology, 2001
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Choy YS et al.
Annals of Human Genetics, 1999
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y et al.
Human Mutation, 1999
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