Article
CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.
Journal of cellular physiology - 1 Mar 2016
Fazio Grazia, Gaston-Massuet Carles, Bettini Laura Rachele, Graziola Federica, Scagliotti Valeria, Cereda Anna, Ferrari Luca, Mazzola Mara, Cazzaniga Gianni, Giordano Antonio, Cotelli Franco, Bellipanni Gianfranco, Biondi Andrea, Selicorni Angelo, Pistocchi Anna, Massa Valentina
Abstract excerpt
Genetic variants within components of the cohesin complex (NIPBL, SMC1A, SMC3, RAD21, PDS5, ESCO2, HDAC8) are believed to be responsible for a spectrum of human syndromes known as "cohesinopathies" that includes Cornelia de Lange Syndrome (CdLS). CdLS is a multiple malformation syndrome affecting almost any organ and causing severe developmental delay. Cohesinopathies seem to be caused by dysregulation of...
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