Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.

Grazia FazioLaura Rachele BettiniSilvia RigamontiDorela MetaAndrea BiondiGiovanni CazzanigaAngelo SelicorniValentina Massa

Published in: Birth defects research (2017)

We investigated if CdLS alterations are associated to perturbation of RA signaling. Cells derived from CdLS patients do not respond to RA signaling as efficiently as healthy controls. RA pathway alterations suggest a possible underlying mechanism for several cellular and developmental abnormalities associated with cohesin function. Birth Defects Research 109:1268-1276, 2017. © 2017 Wiley Periodicals, Inc.

Keyphrases

rheumatoid arthritis
end stage renal disease
disease activity
chronic kidney disease
newly diagnosed
induced apoptosis
cell cycle arrest
cell proliferation
extracellular matrix
high resolution
single molecule
atomic force microscopy
idiopathic pulmonary fibrosis
pi k akt