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
Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.
Nokchan N et al.
Journal of Personalized Medicine, 2024
39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_S5.
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 › TSC1
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
Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations.
Sun W et al.
Nature Communications, 2013
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
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
Hoogeveen-Westerveld M et al.
Biochimica Et Biophysica Acta, 2010
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M et al.
European Journal of Human Genetics : Ejhg, 2009
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.
Pymar LS et al.
Human Molecular Genetics, 2008
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
van Slegtenhorst M et al.
Journal of Medical Genetics, 1999
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