Literature Search

Pellegrin(S),Mastrangelo(M),Accorsi(P),Casel… Pediatr Res 2026-05-20

...TSC2 was the predominant gene involved (93%). Epilepsy in TSC may present in neonatal period as electrographic-only seiz...

Wang(H),Dong(X),Xiao(F),Li(G),Lu(Y),Qiao(M),… Nat Med 2026-06-00

...TSC2 (5.8%), RB1 (4.6%) and WT1 (3.2%). Critically, prospective follow-up of 64,187 patients without initial tumors reve...

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...

Korkmaz(O),Karabulut(S),Macit(P),Keskin(İ) J Assist Reprod Genet 2026-07-00

...TSC2 levels remained unchanged. Follicular FSH and AMH were primarily linked to oocyte maturity, whereas melatonin, TGF-...

Carlson(CR),Shen(Y),He(H),Gudenschwager(EK),… bioRxiv 2026-05-13

...TSC2 loss (TSC2 -/-), and wild-type controls under glucose depletion and refeeding, we find that MTOR Δ4aa and TSC2 -/- ...

Sharma(S),Wong(HY),Johnston(RL),Koufariotis(… BMC Cancer 2026-05-25

...TSC2. Candidate co-occurring alterations included co-occurrence of PTEN loss and ERBB2 amplification and co-occurring va...

Handa(A),Krishnaswamy(S),Faisal(NV),Kadiyani… Cardiol Young 2026-05-26

...TSC2 mutations were identified in 5 infants, and another 5 had extracardiac features of tuberous sclerosis complex. The ...

Kobatake(K),Goto(K),Sekino(Y),Yukihiro(K),Na… Sci Rep 2026-06-30

...TSC2 and MSH3 alterations). By linking real-world outcomes with national genomic data, this study establishes a foundati...

Neto(JA),Fonseca(J),Melo(C),Sousa(R),Carvalh… Cureus 2026-06-00

...TSC2. Despite established clinical diagnostic criteria, a subset of patients remains molecularly unsolved after conventi...

Chahine(S),Diab(T),El Tannir(M),Farhat(G),Ju… J Cancer Res Clin Oncol 2026-07-05

...TSC2 mutations leading to mTOR pathway activation, a distinct molecular subset harbors TFE3 gene rearrangements, often e...