Literature Search

Brazel(D),Kumar(P),Doan(H),Pan(T),Shen(W),Ga… JAMA Netw Open 2023-00-03

...TSC1/2 (6 patients [1.9%]). The most common level 4 variants include PTEN (13 patients [4.1%]), ARID1A (9 patients [2.9%...

Boggarapu(S),Roberds(SL),Nakagawa(J),Beresfo… Orphanet J Rare Dis 2022-00-14

...TSC1 mutation (12.3% vs. 18.1%), and the incidence rate of most of the other TSC-related manifestations was significantl...

Zhang(HZ),Zhan(Y),Zhou(LT),Yang(XQ) Zhonghua Bing Li Xue Za Zhi 2026-02-08

...TSC1, SETD2 and TP53 mutations, one had an MTOR mutation, one had a TSC2 mutation, and one had an SETD2 mutation. The fi...

Han(SH),Camp(SY),Chu(H),Collins(R),Gillani(R… Eur Urol Open Sci 2024-04-00

...TSC1, and pathogenic germline CNVs were found in 18 patients, including CNVs in FH, SDHA, and VHL. This analysis support...

Pangilinan(C),Klionsky(DJ),Liang(C) Autophagy 2024-00-00

...TSC1: TSC complex subunit 1; TSC2: TSC complex subunit 2; ULK1: unc-51 like autophagy activating kinase 1; UVRAG: UV rad...

Han(MH),Chu(J),Wang(Y),Guo(ZH),Liu(Y),Yu(WJ)… Zhonghua Bing Li Xue Za Zhi 2026-04-08

...TSC1 mutations in 2 cases. Follow-up of the cases ranged from 6 to 159 months. All patients were alive at the end of the...

Tedesco(B),Vendredy(L),Timmerman(V),Poletti(… Autophagy 2023-00-00

...TSC1: TSC complex subunit 1; UBA: ubiquitin associated; UPS: ubiquitin-proteasome system; WW: tryptophan-tryptophan; WWT...

Patil(P),Pencheva(BB),Patil(VM),Fangusaro(J) Neurotherapeutics 2022-00-00

...TSC1, TSC2). Li Fraumeni Syndrome, Constitutional Mismatch Repair Deficiency, Gorlin syndrome (Nevoid Basal Cell Carcino...

Cai(Y),Guo(H),Li(HZ),Wang(WD),Zhang(YS) Beijing Da Xue Xue Bao Yi Xue… 2017-00-18

...TSC1 and TSC2 genes, but the molecular events contributing to TSC are not well understood. However, little is known abou...

Grosbois(J),Demeestere(I) Hum Reprod 2018-00-01

...TSC1, mTOR, LATS1, BIRC1 and CCN2 genes and PTEN/p-PTEN, Akt/p-Akt and rpS6/p-rps6 proteins), and localization of YAP in...