...TSC1, a negative regulator of the mTOR complex 1, in fibroblasts (SM22-TSC1–/– mice), endothelial cells (PDGF-TSC1–/– mi...
...TSC1 or TSC2). Diffusion tensor imaging (DTI) is a magnetic resonance imaging-based method that measures the microstruct...
...TSC1)-mTOR pathway. USP7 knockdown restored TSC1 expression and inhibited mTOR activation. However, USP7 did not directl...
...TSC1/TSC2 mutations, yet its genetic heterogeneity and individualized perinatal management remain incompletely defined. ...
...TSC1/TSC2 variants. Electronic health records and self-reported data were interrogated for TSC-related phenotypes, inclu...
...TSC1/2/MTOR, SDHx, FH, or MiTF genes. A review of all five previously reported BRCA2‑associated RCCs revealed that all s...
...TSC1 and mediated K48-linked polyubiquitination at K662, promoting proteasomal degradation of TSC1 and sustaining mTORC1...
...TSC1 variant, leading to a definite diagnosis of uterine PEComa with lymphangioleiomyomatosis (LAM)-like features. The p...
...TSC1 disease-causing variants (28.6% vs. 4.0%; p = 0.047) and were characterized by a significantly lower burden of base...
...TSC1/2 alterations compared to MTOR/PIK3CA alterations (p = 0.02) with a nonsignificant trend for p-S6 (p = 0.15). There...
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