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An integrated, scaled approach to resolve TSC2 variants of uncertain significan…

Biar(CG),Wang(ZR),Camp(ND),Holmes(DL),Wheelo… bioRxiv 2026-01-18

...TSC2 variants are variants of uncertain significance (VUS). VUS in TSC2 have been resolved by one-at-a-time functional a...

Long-Term Impact of Cenobamate on Cognition, Adaptive Behavior, and Quality of …

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...

Factors associated with the severity of tuberous sclerosis complex-associated n…

Qi(C),Li(Y),Chen(Y),Cui(X),Wang(Q),Zhang(X),… Epilepsy Behav 2026-08-00

...TSC2 mutation, active epilepsy, and lower educational attainment were associated with greater TAND severity. TSC2 mutati...

Surgical Repair of an Infrarenal Aortic Aneurysm in an Infant With Tuberous Scl…

Pal(A),Sirivela(SS),Mallick(S),Viswanathan(S) Cureus 2026-03-00

...TSC2 mutation. Tuberous sclerosis complex is associated with dysregulation of the mammalian target of rapamycin (mTOR) s...

Clinical characteristics and molecular genetic analysis of 73 cases of tuberous…

Wu(X),He(MY),Xu(HF),He(Y),Min(XH),Zhao(QK),L… Front Pediatr None

...TSC2 mutations in 68 patients (93%), corresponding to 71 distinct mutation sites. Fourteen variants (2 in TSC1, 12 in TS...

Morphology spectrum and molecular landscape in eosinophilic solid and cystic re…

Wang(Q),Xu(Z),Wang(J),Huang(Z),Guo(F),Xu(Z),… Hum Pathol 2026-08-00

...TSC2 mutations in 9/17. All 5 cases with condensed eosinophilic cytoplasm uniformly harbored TSC1 mutations. Analysis of...

Integrated clinicopathological, genomic, and immunophenotypic landscape of rena…

Wang(W),Zhu(H),Chen(C),Sun(M),Wang(H),Tai(Y)… Front Immunol None

...TSC2, NFATC2, TCF7L2, TLR4, RANBP17, ITK, NEB [Chr2:152499355], NUP214, FBN2, and NEB [Chr2:152544903]). Drug-target pre...

Molecular profile of residual triple-negative breast cancer: opportunities for …

van den Ende(NS),Smid(M),Martens(JWM),Debets… NPJ Breast Cancer 2026-05-13

...TSC2. Molecular profiling of residual disease in extensively poor responding TNBC post-NAC revealed multiple potentially...

Early use of everolimus for neonatal cardiac rhabdomyoma: a pharmacotherapeutic…

Alsharhan(M),Alkhezi(OS),Alfayez(OM) Saudi Pharm J 2026-05-13

...TSC2 gene. The tumor size and location led to early initiation of oral everolimus at 0.06 mg/kg twice daily. Therapeutic...

Mutational profile of atypical fibroxanthoma and pleomorphic dermal sarcoma fur…

Caprini(E),Scaglione(GL),Scarponi(C),Morelli… Sci Rep 2026-05-03

...TSC2) and in NF2 harbouring novel genetic alterations. Integrating our results with published datasets of AFX and PDS mu...

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