Literature Search

Brazdziunaite(D),Mazur(G),Kerpauskiene(A),Ce… Clin Genet 2026-02-00

...TSC2, and UMOD, while 39% remained genetically unresolved. Patients with non-ADPKD diagnoses typically showed multiple c...

Wang(H),Jiang(H),He(S),Ren(S),Li(H),Liu(W),Z… J Clin Invest 2026-06-15

...TSC2 at serine 540, triggering the degradation of TSC2 and promoting mTORC1 signaling in cDC1s. Notably, Tsc2 deletion i...

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 ...

Ma(Y),Farny(NG) bioRxiv 2026-05-24

...Tsc2, in both mouse and human cell lines. We illustrate that the complete loss of Tsc2 leads to spontaneous, canonical, ...

Tahira(K),Ullah(A),Ullah(F),Aziz(J),Javed(MI… Genes (Basel) 2026-01-29

...TSC2, DEPDC5, and CACNA1I), pathogenic mutations in rare recessive epilepsy-related genes (PGAP2, NOVA2, and CCDC88C) we...

Babici(RG),Ivanov(IC),Agavriloaei(BD),Mititi… Diagnostics (Basel) 2026-08-28

...TSC2/PKD1 contiguous-gene deletion, and whole-exome sequencing selectively supported short-read reidentification. Result...

Soleimani(M),Zahedi(K),Brooks(M),In(JG),Baro… Int J Mol Sci 2026-08-22

...Tsc2 in epithelial cells lining the cysts. Transcriptome studies indicated enhanced expression of the following TFs: DMR...

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...

Cushman(CJ),Nagy(KK),Martinez(R),Tarafdar(KR) Am J Case Rep 2026-08-28

...TSC2 mutations, consistent with a sporadic angiomyolipoma. The patient underwent successful en bloc left radical nephrec...

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 ...