Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23963
Abstract: The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC,… read more here.
Keywords: functional structural; tsc2 variants; tsc; tsc1 tsc2 ... See more keywords
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24454
Abstract: Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the… read more here.
Keywords: tuberous sclerosis; mosaicism tuberous; mosaicism; tsc1 tsc2 ... See more keywords
PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Cancer"
DOI: 10.1002/ijc.32579
Abstract: The mammalian target of rapamycin (mTOR) pathway inhibitors are key drugs for the treatment of many tumor types, however, there are no predictive biomarkers in clinical use. Here, we performed a molecular and immunohistochemical characterization… read more here.
Keywords: mtor pathway; renal cell; response; cell carcinoma ... See more keywords
TRIM31 is upregulated in hepatocellular carcinoma and promotes disease progression by inducing ubiquitination of TSC1–TSC2 complex
Sign Up to like & getrecommendations! Published in 2018 at "Oncogene"
DOI: 10.1038/onc.2017.349
Abstract: Tripartite motif (TRIM) 31 is a member of the tripartite motif-containing protein family, and TRIM family proteins are involved in a broad range of biological and pathological processes. However, the role of TRIM31 in hepatocellular… read more here.
Keywords: hepatocellular carcinoma; trim31; tsc1 tsc2; progression ... See more keywords
Low‐grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity
Sign Up to like & getrecommendations! Published in 2022 at "Histopathology"
DOI: 10.1111/his.14816
Abstract: Low‐grade oncocytic tumour (LOT) of the kidney has recently emerged as a potential novel tumour type. Despite similarity to oncocytoma or eosinophilic chromophobe renal cell carcinoma, it shows diffuse keratin 7 immunohistochemistry (IHC) and negative… read more here.
Keywords: grade oncocytic; oncocytic tumour; tumour; mtor ... See more keywords
Abstract LB288: Biomarker analysis from AMPECT correlating response to nab-sirolimus with TSC1 and TSC2 inactivating alterations
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-lb288
Abstract: nab-Sirolimus is an mTOR inhibitor (mTORi) approved in the US for the treatment of adult patients with locally advanced, unresectable, or metastatic malignant perivascular epithelioid cell tumor (PEComa) based on clinical efficacy and safety data… read more here.
Keywords: inactivating alterations; tsc2 inactivating; tsc1 tsc2; nab sirolimus ... See more keywords
Decoding of novel missense TSC2 gene variants using in-silico methods
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0891-y
Abstract: BackgroundMutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC heterodimer that… read more here.
Keywords: protein; novel missense; tsc1 tsc2; tsc2 gene ... See more keywords
The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort
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DOI: 10.1186/s12916-022-02325-0
Abstract: Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and… read more here.
Keywords: tsc2; heart; tuberous sclerosis; tsc1 tsc2 ... See more keywords
Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2.
Sign Up to like & getrecommendations! Published in 2023 at "Neurology"
DOI: 10.1212/wnl.0000000000207177
Abstract: OBJECTIVE To describe a child meeting diagnostic criteria for tuberous sclerosis complex (TSC) carrying a pathogenic somatic variant in RHEB, but no pathogenic variants in the two known TSC genes, TSC1 or TSC2. METHODS We… read more here.
Keywords: tsc1 tsc2; pathogenic variants; sclerosis complex; variant ... See more keywords
Hyperactivated mTORC1 downregulation of FOXO3a/PDGFRα/AKT cascade restrains tuberous sclerosis complex-associated tumor development
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DOI: 10.18632/oncotarget.18963
Abstract: Hyperactivation of mammalian target of rapamycin complex 1 (mTORC1), caused by loss-of-function mutations in either the TSC1 or TSC2 gene, leads to the development of tuberous sclerosis complex (TSC), a benign tumor syndrome with multiple… read more here.
Keywords: akt; tuberous sclerosis; sclerosis complex; foxo3a pdgfr ... See more keywords