Article
Renal cystic disease in tuberous sclerosis complex.
Experimental biology and medicine (Maywood, N.J.) - 1 Oct 2021
Kumar Prashant, Zadjali Fahad, Yao Ying, Bissler John J
Abstract excerpt
Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology...
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