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This study found that TSC2-null fibroblast cells from TSC skin hamartomas can induce hair follicle formation and hamartomatous changes in keratinocytes, with active mTOR signaling observable in a mouse xenograft model.

This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.

This study demonstrated that 5-azacytidine treatment may reduce TSC lesion-related hair follicles in mice, suggesting chromatin remodeling agents could be effective for tuberous sclerosis cutaneous lesions lacking tuberin.

Sirolimus can reduce tumor cell size in TSC-related skin tumors, but continuous treatment is needed to maintain benefits.

This review suggests that the TSC22D family genes may influence metabolism and cancer, potentially serving as a therapeutic target for conditions like diabetes, obesity, and certain tumors, depending on the tumor environment.