Literature Search

Zhang(JX),Li(YB),Lu(JP),Le(JD),Wu(ZH),Jin(YC… Biochem Pharmacol 2026-05-00

...TSC2 pathway) of GE. Transcriptomic sequencing further elucidated the mechanism of GE action. On postoperative day 7, sk...

McCarthy(M),Wojcik(AA),Barr Fritcher(EG),Tek… Mayo Clin Proc 2026-02-12

...TSC2-mutated renal cell carcinoma (RCC) with fibromyomatous stroma (ELOC-RCCfms and M/TSC-RCCfms, respectively), as thes...

Ishikawa(S),Ouchi(K),Wakayama(S),Kasahara(Y)… Front Oncol None

...TSC2 mutations: a frameshift mutation (p. P677fs*21; variant allele frequency [VAF] 0.0789) and a nonsense mutation (p. ...

Ruan(Y),Chen(L),Xia(S),Lu(Q),Wang(J),Zhu(F),… Front Pediatr None

...TSC2 gene, detected in both blood and diseased brain tissue; Patients 8 and 16 had negative blood WES results, but somat...

Akiba(T),Shimada(S),Ikegami(M),Nishizaki(N),… Front Pediatr None

...TSC2 and PKD1 genes cause TSC2/PKD1 contiguous gene syndrome (PKDTS), which carries a risk of early renal decline. Epith...

Li(X),Yu(X),Xu(L),Zhao(F),Ying(H),Tao(Z),Wan… Ther Adv Urol None

...TSC2 in two patients. Surgical management included segmental ureterectomy with reconstruction via ureteroureterostomy (t...

Anguita-Ruiz(A),Torres-Martos(Á),Bustos-Aiba… Cardiovasc Diabetol 2026-02-24

...TSC2, EGLN3, EHD2 and VASN showed consistent associations with pubertal HOMA-IR z-score and, for several loci, with adip...

Ojha(SK),Kartawy(M),Hamoudi(W),Tripathi(MK),… Mol Psychiatry 2026-07-00

...TSC2) in Shank3Δ4-22 and Cntnap2(-/-) mutant mice. We proved that this modification led to the loss of TSC2 protein via ...

Operto(FF),Pastorino(GMG),Charlier(B),Izzo(V… Neurol Ther 2026-04-00

...TSC2 mutations showed significantly lower IQ scores than those carrying TSC1 mutations (p < 0.001). Total parental stres...

Utami(KH),Han(VX),Mohammad Yusof(NAB),Ramasw… Neurol Genet 2026-04-00

...TSC2 p.V1646Cfs*7 variant. To elucidate its functional consequences, we assessed the variant's effects on proteostasis, ...