Renal cystic disease in tuberous sclerosis complex

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 rev...

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Veröffentlicht in:	Experimental biology and medicine (Maywood, N.J.) N.J.), 2021-10, Vol.246 (19), p.2111-2117
Hauptverfasser:	Kumar, Prashant, Zadjali, Fahad, Yao, Ying, Bissler, John J
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Humans Immunity, Innate - genetics Kidney - pathology Kidney Diseases - genetics Kidney Diseases - pathology Minireview Mutation - genetics Signal Transduction - genetics Tuberous Sclerosis - metabolism Tumor Suppressor Proteins - genetics
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