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Mutations in Anaplastic Thyroid Carcinoma: An Analysis of the Japanese National…

Nagano(H),Matsumoto(H),Ando(Y),Nakajo(M),Yam… Laryngoscope Investig Otolary… 2025-04-00

...TSC1 (11/129), ROS1 (10/129), and KMT2A (10/129) with 13.7 ± 0.5 (mean ± SEM) mutations/individual. Mutations in BRAF (p...

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Nabbout(R),Belousova(E),Benedik(MP),Carter(T… Epilepsia Open 2019-03-00

...TSC1 mutation (47.3% vs 23%). ɣ-aminobutyric acid (GABA)ergic drugs were the most common treatment modality for both inf...

Mortality in Tuberous sclerosis Complex: Current understandings.

Pentz(R),Sham(L),Zak(M),Muir(K),Trinari(E),D… Eur J Paediatr Neurol 2025-09-00

...TSC1 and TSC2. The resultant hamartomas confer significant medical risks by disruption of local tissues. Risk of mortali...

The Activation of the Microglial NLRP3 Inflammasome Is Involved in Tuberous Scl…

Ding(R),Zhang(S),Meng(L),Wang(L),Han(Z),Gui(… Int J Mol Sci 2025-07-26

...TSC1 (encoding hamartin) or TSC2 (encoding tuberin) gene, with mutations in the TSC2 gene potentially leading to more se...

Epidemiology of Renal Cancer: Incidence, Mortality, Survival, Genetic Predispos…

Larcher(A),Campi(R),Bex(A),Bray(F),Bukavina(… Eur Urol 2025-10-00

...TSC1/2, MET, FLCN, PRDM10, SDHA/B/C/D, MiTF, CDC73, FH, PTEN, BAP1, SMARCB1, CHEK2, MUTYH, BRCA2, ATM, and APC, predispo...

FLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysi…

Zhao(M),Song(J),Xu(J),Ru(G),Ye(L),Zhang(H),W… Virchows Arch 2026-02-00

...TSC1/2, MTOR, FH, SDHx, or MiT family genes. Over a median follow-up of 38 months, no recurrence or metastasis occurred,...

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari(S),Ribierre(T),Marsan(E),Adle-Bia… Acta Neuropathol 2019-00-00

...TSC1, TSC2) were found exclusively in FCD2/HME cases. We show that panel-negative FCD2 cases display strong pS6-immunost...

A step-wise approach for establishing a multidisciplinary team for the manageme…

Auvin(S),Bissler(JJ),Cottin(V),Fujimoto(A),H… Orphanet J Rare Dis 2019-00-30

...TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various ...

The landscape of molecular alterations in pancreatic and small intestinal neuro…

Scarpa(A) Ann Endocrinol (Paris) 2019-06-00

...TSC1/2, and the hyperactivation of the PI3K/mTOR pathway as distinctive biological features of these neoplasms. Next-Gen...

Does neoadjuvant targeted therapy provide an opportunity for resectable EGFR-mu…

Lv(C),Ma(Y),Feng(Q),Lu(F),Chi(Y),Wu(N),Fang(… J Thorac Dis 2020-10-00

...TSC1, PIK3CA, or STAT3 mutations. Patients who presented stable disease (SD) response after TKI therapy had significantl...

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