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.
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]
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts
S. Rigamonti;G. Cazzaniga;V. MassaUltimo
2017
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.
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