Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts

Articolo
Data di Pubblicazione:
2017
Citazione:
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts / G. Fazio, L.R. Bettini, S. Rigamonti, D. Meta, A. Biondi, G. Cazzaniga, A. Selicorni, V. Massa. - In: BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY. - ISSN 1542-0752. - (2017 Jul 28). [10.1002/bdr2.1070]
Abstract:
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting the neurodevelopment, gastrointestinal, musculoskeletal systems. CdLS is caused by mutations within NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation. The aim of this study was to investigate retinoic acid (RA) signaling pathway, a master developmental regulator, in CdLS cells.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Cornelia de Lange syndrome; fibroblasts; retinoic acid
Elenco autori:
G. Fazio, L.R. Bettini, S. Rigamonti, D. Meta, A. Biondi, G. Cazzaniga, A. Selicorni, V. Massa
Autori di Ateneo:
MASSA VALENTINA ( autore )
Link alla scheda completa:
https://air.unimi.it/handle/2434/519471

Aree Di Ricerca

Settori


Settore BIO/13 - Biologia Applicata