Ontology highlight
ABSTRACT:
SUBMITTER: Lesma E
PROVIDER: S-EPMC4119383 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Lesma Elena E Ancona Silvia S Sirchia Silvia M SM Orpianesi Emanuela E Grande Vera V Colapietro Patrizia P Chiaramonte Eloisa E Di Giulio Anna Maria AM Gorio Alfredo A
Journal of cellular and molecular medicine 20140307 5
Tuberous sclerosis complex (TSC) is caused by mutations in TSC1 or TSC2 genes. Lymphangioleiomyomatosis (LAM) can be sporadic or associated with TSC and is characterized by widespread pulmonary proliferation of abnormal α-smooth muscle (ASM)-like cells. We investigated the features of ASM cells isolated from chylous thorax of a patient affected by LAM associated with TSC, named LAM/TSC cells, bearing a germline TSC2 mutation and an epigenetic defect causing the absence of tuberin. Proliferation ...[more]