Literature Search

Xue(W),Wang(M),Hu(T),Guo(S),Hu(A),Gu(Y),Wang… Cell Death Dis 2026-05-19

...TSC1 and mediated K48-linked polyubiquitination at K662, promoting proteasomal degradation of TSC1 and sustaining mTORC1...

Manjunath(GK),Kanchi(LP),Dakal(TC),Beura(A),… Funct Integr Genomics 2026-06-12

...TSC1, TSC2, and NF1. Overall, these findings refine the molecular landscape of PC and highlight key genes and pathways w...

Lv(S),Shen(Z),Gu(Y),Wang(Y),Wang(J),Zhang(H)… Mol Biomed 2026-08-05

...TSC1)-mTOR pathway. USP7 knockdown restored TSC1 expression and inhibited mTOR activation. However, USP7 did not directl...

Liu(X),Fu(H),Ren(Q),Shu(H),Wu(G),Xu(H),Feng(… Front Pediatr None

...TSC1/TSC2 mutations, yet its genetic heterogeneity and individualized perinatal management remain incompletely defined. ...

Fasham(J),McPhater(A),Whittington(R),Pagname… Eur J Hum Genet 2026-05-18

...TSC1/TSC2 variants. Electronic health records and self-reported data were interrogated for TSC-related phenotypes, inclu...

Wang(Y),Yin(X),Xia(C),Zhao(M) Virchows Arch 2026-05-19

...TSC1/2/MTOR, SDHx, FH, or MiTF genes. A review of all five previously reported BRCA2‑associated RCCs revealed that all s...

Su(TH),Peng(SS),Chen(PL),Yang(SH),Kuo(MF),Fa… Neurotherapeutics 2026-04-00

...TSC1 disease-causing variants (28.6% vs. 4.0%; p = 0.047) and were characterized by a significantly lower burden of base...

Girodengo(M),Mihaylov(SR),Klonowska(K),Manto… Acta Neuropathol 2026-05-20

Tuberous sclerosis complex (TSC) is a rare disease caused by mutations in TSC1 and TSC2, resulting in activation of mech...

Bhardwaj(S),Amaral(A),Dairo(O),Akbari(A),Piv… Hum Pathol 2026-09-00

...TSC1/2 alterations compared to MTOR/PIK3CA alterations (p = 0.02) with a nonsignificant trend for p-S6 (p = 0.15). There...

Jülich(K),Arredondo(K) Ann Child Neurol Soc 2026-06-00

...TSC1 and mosaic TSC2, respectively. They have not developed epilepsy and have had milder neurodevelopmental impairment.I...