Associated Papers
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
40655946 (PubMed )
Supplement: DataSheet1.pdf
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
38895336 (PubMed )
Supplement: media-2.xlsx › Table_S4
De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report.
Triono A et al.
Annals of Medicine and Surgery (2012), 2023
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
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
The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27.
Rosner M et al.
Mutation Research, 2006
The GTPase-activating protein Rap1GAP uses a catalytic asparagine.
Daumke O et al.
Nature, 2004
Expression of wild type and mutant TSC2, but not TSC1, causes an increase in the G1 fraction of the cell cycle in HEK293 cells.
Khare L et al.
Journal of Medical Genetics, 2002
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.
Hodges AK et al.
Human Molecular Genetics, 2001
Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression.
Soucek T et al.
Oncogene, 2001
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC et al.
American Journal of Human Genetics, 1999
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
Maheshwar MM et al.
Human Molecular Genetics, 1997
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