...TSC1, TSC2, PI3K, PDK1, CD36, and IGF-1, and with increased expression of miRNA-101 and ULK1, as demonstrated by Western...
...TSC1 or TSC2, leading to mTORC1 hyperactivation. While mTOR inhibitor sirolimus, the only FDA approved drug for this dis...
...TSC1/TSC2 genes. A definitive prenatal TSC diagnosis was assigned based on genetic testing or the presence of two major ...
...TSC1/TSC2 genes. Methods: A retrospective analysis was conducted on 8 MMPH cases diagnosed at Shanghai Pulmonary Hospita...
Tuberous sclerosis complex (TSC) is a multisystem disease caused by pathogenic variants in TSC1 or TSC2 genes. Although ...
...TSC1 are likely to arise from direct neuronal loss of TSC1. Our results call for careful reinterpretation of prior studi...
...TSC1 and TSC2. Adult-onset epilepsy and mosaic cases were described. Of 180 adults with TSC, 148 were included. At last ...
...TSC1, TSC2, or MTOR. We describe a 72-year-old male with a history of pancreatic neuroendocrine tumor, gastrointestinal ...
...TSC1 in adipocyte progenitors led to increased cell proliferation, supporting the hypothesis that TSC1 deficiency contri...
...TSC1/TSC2 alterations, and a small subset features TFE3 rearrangements, mutually exclusive of TSC mutations. Recently, "...
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