Tsc2 mutation induces renal tubular cell nonautonomous disease
Sign Up to like & getrecommendations! Published in 2021 at "Genes and Diseases"
DOI: 10.1016/j.gendis.2021.03.010
Abstract: Abstract TSC renal cystic disease is poorly understood and has no approved treatment. In a new principal cell-targeted murine model of Tsc cystic disease, the renal cystic epithelium is mostly composed of type A intercalated… read more here.
Keywords: induces renal; tsc2 mutation; mutation induces; disease ... See more keywords
Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis
Sign Up to like & getrecommendations! Published in 2019 at "European Respiratory Journal"
DOI: 10.1183/13993003.00938-2019
Abstract: Lymphangioleiomyomatosis (LAM) is a rare, slowly progressive pulmonary disease causing cystic lung destruction and respiratory failure. It affects predominantly premenopausal women, and rarely men. It can occur as a sporadic condition (sporadic LAM) or in… read more here.
Keywords: lymphangioleiomyomatosis; generalised mosaicism; lam; tsc2 mutation ... See more keywords
Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation
Sign Up to like & getrecommendations! Published in 2018 at "BMC Cancer"
DOI: 10.1186/s12885-018-4467-6
Abstract: BackgroundRenal epithelioid angiomyolipomas (EAML) are rare tumors with aggressive behavior. EAML can be sporadic or develop within the tuberous sclerosis complex syndrome, where mutations of TSC1 or TSC2 genes (critical negative regulators of mTOR Complex… read more here.
Keywords: response; tsc2 mutation; case; sirolimus ... See more keywords