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_S2
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
33307091 (PubMed )
Supplement: mmc1.pdf
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.
Ye Y et al.
Scientific Reports, 2019
Suppressed expression of autophagosomal protein LC3 in cortical tubers of tuberous sclerosis complex.
Miyahara H et al.
Brain Pathology (zurich, Switzerland), 2013
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 TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 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
Genetics and molecular biology of tuberous sclerosis complex.
Napolioni V et al.
Current Genomics, 2008
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
Nellist M et al.
Bmc Medical Genetics, 2008
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