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

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>...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
cohesin
Cornelia de Lange Syndrome
3D chromatin conformation
IGF2/H19 domain
WNT pathway
imprinted genes
Microbiology
QR1-502
Acceso en línea:https://doaj.org/article/9be0c72452a44827a476fce44f08dd98
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https://doaj.org/article/9be0c72452a44827a476fce44f08dd98

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