Associated Papers
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
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
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
36232477 (PubMed )
Supplement: ijms-23-11175-s001.zip › Table_S1_TSC_Japan_dataset_2022_v3.xlsx › TSC_Japan_dataset
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
33307091 (PubMed )
Supplement: mmc1.pdf
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015
25782670 (PubMed )
Supplement: ejhg201547x1.xls › details
A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.
Zhang J et al.
Nature Cell Biology, 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
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