Literature Search

McEwen(FS),Runicles(AK),Liang(H),Woodhouse(E… Epilepsia 2026-08-10

...TSC1/TSC2 mutation with the autism factor score: one via higher cortical tuber burden and infantile spasms and one via s...

Avgeris(SN),Fostira(F),Apostolou(P),Delimits… Hum Mutat None

...TSC1 and TSC2 variants are still emerging. The aim of this study was to characterize the variant spectrum of the TSC1 an...

Zullow(H),Tjota(MY),Kwon(JW),Antic(T) Histopathology 2026-08-13

...TSC1 or TSC2 gene variants in ESC-RCC and TFEB gene locus amplification in TFEB-amplified RCC. Although ESC-RCC and TFEB...

Gu(NH),Luo(LJ),Yang(NP),Yang(YP),Li(GJ),Ou-Y… Reprod Sci 2026-08-00

The TSC complex, formed by the binding of TSC2 with TSC1 and TBC1D7, plays an important role in the onset of endometrial...

Huang(W),Dai(M),Lu(C) Arch Biochem Biophys 2026-10-00

...TSC1) was revealed to mediate the function of miR-328-3p. Reduced serum miR-328-3p served as a biomarker for screening o...

Dogra(S),Zmorzynska(J) J Vis Exp 2026-06-26

...TSC1/TSC2 mutations) exhibit variable expressivity of autism spectrum disorder (ASD), and maternal immune activation is ...

Salahat(D),Mujahed(R),Jaber(M),Tahayneh(M),K… Oxf Med Case Reports 2026-01-00

...TSC1 or TSC2 genes. Postnatal imaging revealed bilateral polycystic kidney disease by 2 months of age. The patient prese...

Ricketts(CJ),Vocke(CD),Lang(M),Velazquez(JM)… Hum Mol Genet 2026-02-08

...TSC1/TSC2 variants were identified in 13 patients, including seven known or likely pathogenic alterations. Five patients...

Pereira(CCDS),Dantas(FDG),Baratela(WADR),Luc… AJNR Am J Neuroradiol 2026-06-03

...TSC1 (P = .004), and the same was observed on conventional MRI (P = .001). On 7T MRI, subjects with TSC1 also had signif...

Hsieh(CC),Huang(NK),Tung(SY),Lin(WX),Wang(HH… Cell Biosci 2026-01-03

...TSC1 or TSC2 gene. Multiple genetic, epigenetic, and environmental factors can affect the phenotypical outcomes of TSC i...