Cohesin Mutations Induce Chromatin Conformation Perturbation of the <i>H19</i>/<i>IGF2</i> Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines

Traditionally, Cornelia de Lange Syndrome (CdLS) is considered a cohesinopathy caused by constitutive mutations in cohesin complex genes. Cohesin is a major regulator of chromatin architecture, including the formation of chromatin loops at the imprinted <i>IGF2</i>/<i>H19</i> domain. We used 3C anal...

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Autors principals:	Silvana Pileggi, Marta La Vecchia, Elisa Adele Colombo, Laura Fontana, Patrizia Colapietro, Davide Rovina, Annamaria Morotti, Silvia Tabano, Giovanni Porta, Myriam Alcalay, Cristina Gervasini, Monica Miozzo, Silvia Maria Sirchia
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2021-11-01
Col·lecció:	Biomolecules
Matèries:	cohesin Cornelia de Lange Syndrome 3D chromatin conformation IGF2/H19 domain WNT pathway imprinted genes
Accés en línia:	https://www.mdpi.com/2218-273X/11/11/1622
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