...TSC1 pathogenic variant was first identified on DNA extracted from angiofibroma biopsy, and then confirmed on non-lesion...
...TSC1, and TSC2 in six cases, while one case did not detect these gene mutations. All patients were alive without recurre...
...TSC1) promoter, enhancing TSC1 transcription. Intriguingly, knockdown of FOXO1 counteracted the inhibitory effects of UC...
...TSC1 c.1041G>A variant. Presymptomatic risdiplam was initiated at a corrected gestational age of 38+5 weeks. Both twins ...
...TSC1 and TSC2 variants, respectively, and 12% had no pathogenic variant identified. Specific disease-causing variants in...
Tuberous sclerosis complex 1 (Tsc1) negatively regulates mTORC1 signaling, but its role in postnatal skeletal developmen...
...TSC1/2, MTOR, FH, SDHx, or MiT family genes. Over a median follow-up of 38 months, no recurrence or metastasis occurred,...
...TSC1 (2/6), TSC2 (2/6), and MTOR (2/6). The shared morphologic, immunohistochemical, and molecular features of RCC FMS-H...
...TSC1 or TSC2 genes lead to this condition, while TSC2 mutations tend to produce more severe symptoms at an earlier age. ...
...TSC1 or TSC2. Cardiac rhabdomyoma is a common prenatal finding and can be associated with severe complications, includin...
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