Associated Papers
Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance.
Kim YG et al.
European Journal of Human Genetics : Ejhg, 2025
Clinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.
Gao W et al.
Pathology, Research and Practice, 2025
Molecular chaperones: Guardians of tumor suppressor stability and function.
Heritz JA et al.
Oncotarget, 2024
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
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
West HD et al.
Human Mutation, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients.
Woodford MR et al.
The Embo Journal, 2017
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Overwater IE et al.
European Journal of Human Genetics : Ejhg, 2016
Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.
Santiago Lima AJ et al.
Plos One, 2014
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
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 TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2012
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
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
Mozaffari M et al.
Bmc Medical Genetics, 2009
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M et al.
European Journal of Human Genetics : Ejhg, 2009