Topic
TSC2
About: TSC2 is a research topic. Over the lifetime, 928 publications have been published within this topic receiving 66271 citations. The topic is also known as: TSC2 & tuberin.
Papers published on a yearly basis
Papers
TL;DR: From the Department of Neurology (P.P.N., K.L.C.) and the Division of Medical Genetics (K.B.H.) — both in Philadelphia.
Abstract: From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical Center; and the Department of Medical Oncology, Fox Chase Cancer Center (E.P.H.) — both in Philadelphia. Address reprint requests to Dr. Crino at the Department of Neurology, 3 West Gates Bldg., 3400 Spruce St., University of Pennsylvania Medical Center, Philadelphia, PA 19104, or at peter.crino@ uphs.upenn.edu.
1,804 citations
TL;DR: Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene, and its protein product, tuberin, has a region of homology to the GTPase-activating protein GAP3.
1,670 citations
TL;DR: Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation was seen in six apparently unrelated patients, which suggests that hamartin acts as a tumor suppressor.
Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). TheTSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified inTSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.
1,648 citations
TL;DR: This approach identifies the tuberous sclerosis complex-2 gene product, tuberin, as a potential target of Akt/PKB, and demonstrates that, upon activation of PI3K, tuber in is phosphorylated on consensus recognition sites forPI3K-dependent S/T kinases.
1,622 citations
TL;DR: Results show that, in addition to transcriptional activation, Wnt stimulates translation and cell growth by activating the TSC-mTOR pathway, and the sequential phosphorylation of TSC2 by AMPK and GSK3 reveals a molecular mechanism of signal integration in cell growth regulation.
1,410 citations
Related Topics (5)
Performance Metrics
| Year | Papers |
|---|---|
| 2025 | 19 |
| 2024 | 41 |
| 2023 | 158 |
| 2022 | 131 |
| 2021 | 42 |
| 2020 | 35 |