Article
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
Human molecular genetics - 1 Dec 2017
Duplomb Laurence, Droin Nathalie, Bouchot Olivier, Thauvin-Robinet Christel, Bruel Ange-Line, Thevenon Julien, Callier Patrick, Meurice Guillaume, Pata-Merci Noémie, Loffroy Romaric, Vandroux David, Costa Romain D A, Carmignac Virginie, Solary Eric, Faivre Laurence
Abstract excerpt
The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mouse knock-out for Bcl2 demonstrates growth retardation, severe polycystic kidney disease (PKD), grey hair and lymphopenia, and die prematurely after birth. Here, we report a 40-year-old male referred to for abdominal and thoracic aortic dissection with associated aortic root aneurysm, PKD, lymphocytopenia with a history of T...
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