Literature Search

Liu(Y),Wang(W),Zheng(G),Xu(W),Wang(Z),Wang(X… Discov Oncol 2025-07-03

...TSC1/TSC2 gene mutations and presented as angiomyolipoma (AML) in kidney. Previous studies have indicated the presence o...

Abergel(E),Pri-Chen(H),Wallach-Dayan(S),Hind… Am J Physiol Renal Physiol 2025-09-01

...Tsc1 deletion in nephron progenitor cells and CRISPR-edited human kidney cells, we assessed the role of the endocannabin...

Klonowska(K),Lee(J),Drzewiecki(M),Grevelink(… Genet Med 2025-10-00

...TSC1/TSC2 variants. Genome-wide profiling of somatic mutations in a unique collection of angiofibroma (FAF) and ungual f...

Anwaier(A),Qu(Y),Ye(S),Tian(X),Zhu(S),Zhou(S… Neoplasia 2025-10-00

...TSC1/TSC2 mutations are frequent, the molecular drivers underlying eAML pathogenesis remain unclear. Whole-exome sequenc...

Kim(YG),Ha(C),Jang(JH),Jang(MA),Kim(JW) Eur J Hum Genet 2025-10-00

...TSC1, TSC2, RB1, PTCH1, STK11, and FH, were selected and the pathogenicity of each variant was reassessed using the new ...

Chen(X),Archer(J),Bernhardt(BC),Caciagli(L),… Epileptic Disord 2025-12-00

...TSC1 or TSC2 genes. While characterized by a wide range of clinical manifestations, TSC commonly presents with epilepsy,...

Rodriguez Pena(MDC),He(S),Siegmund(S),Hirsch… Histopathology 2025-11-00

...TSC1 (n = 4), TSC2 (n = 1) and PTEN (n = 1). Immunohistochemistry for glycoprotein nonmetastatic B (GPNMB) was positive ...

Christensen(AK),Iversen(LS),Graversen(L),Mad… BMJ Case Rep 2025-07-18

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by variants in the TSC1 or TSC2 genes. This case repo...

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...

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...