Literature Search

Botvinik(A),Glasner(VO),Reches(A),Miremberg(… Prenat Diagn 2026-05-00

...TSC2, and CLCN7, representing diverse pathways in cytoskeletal organization, ciliary function, mechanotransduction, and ...

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

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

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

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

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

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

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...

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

...TSC2 and developed drug-resistant epilepsy, and two of four developed infantile spasms despite intensive early medical m...

Yoo(J),Kim(HM),Jeong(K),Yoo(YR),Shin(JY),Lee… Korean J Clin Oncol 2026-08-00

...TSC2, and KDR showed nominal expression differences in comparisons involving the hematogenous metastasis group. None of ...

Ausavarungnirun(C),Usama(M),Ngov(D),Badami(A… Am J Surg Pathol 2026-09-02

...TSC2 gene make it likely that TSC2-mutated thyroid carcinomas have been underdiagnosed so far. We suggest that TSC2-muta...