Literature Search

Sunnetci-Akkoyunlu(D),Kara(B),Ozer(T),Deniz(… Genes (Basel) 2025-09-28

...TSC1 variant was detected in a patient without cutaneous stigmata of tuberous sclerosis complex. The NALCN variant in a ...

Huang(Z),Zhang(Z),Yang(C),Mai(Q),Li(R),Li(S)… J Orthop Surg Res 2025-09-29

...TSC1) molecule in bone marrow mesenchymal stem cells (BMMSCs). Then, the differences in bone repair between transgenic m...

Wang(W),Yang(C),Zhao(J),Cheng(X),Chen(T),Yan… Arch Biochem Biophys 2025-12-00

...TSC1) exhibited significant correlations with immune infiltration (CD8+ T cells, Tregs, and MDSCs). High expression of B...

Sangoi(AR),Lobo(A),Tiwari(A),Akgul(M),Kanduk… Virchows Arch 2025-10-04

...TSC1/2 mutations in 6 (35%), MTOR mutation in 1 (6%), and co-mutations of TSC/MTOR in 2 (12%) cases. Additionally, co-mu...

Al Dlali(M),Al Amri(B),Al Zeheimi(N),Al Busa… Breast Cancer Res 2025-10-07

...TSC1 mutations corresponded with smaller tumors, whereas FGFR4 SNVs were linked to nodal (N) status. Additionally, we id...

Brown(SP),Ransdell(JL) J Vis Exp 2025-10-17

...Tsc1, a gene whose loss-of-function mutations are among the most common monogenic causes of ASD. In mouse Purkinje neuro...

Rodríguez-Torres(DA),Arenas-Estala(J),Sánche… Diagnostics (Basel) 2025-07-18

...TSC1 or TSC2. Cardiac rhabdomyoma is a common prenatal finding and can be associated with severe complications, includin...

Ertorer(ME),Tuncer(FN),Ciftci(S),Tanrikulu(S… Sci Rep 2025-07-07

...TSC1 [p.(Arg517Gln)], SDHB [p.(Glu176Gly)] and CDH23 [p.(Ala765Val)] variants were detected in four FIPA families, along...

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...

Huang(W),Chen(W),Zhao(Z),Liu(L),Zhao(Y),Chen… Sci Rep 2025-07-02

...TSC1 and negatively regulated the transcription of TSC1. In conclusion, inhibition of ATF2 and promotion of TSC1 transcr...