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Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 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 IGF2/H19 domain. We used 3C analysis on lympho...
Autores principales: | Pileggi, Silvana, La Vecchia, Marta, Colombo, Elisa Adele, Fontana, Laura, Colapietro, Patrizia, Rovina, Davide, Morotti, Annamaria, Tabano, Silvia, Porta, Giovanni, Alcalay, Myriam, Gervasini, Cristina, Miozzo, Monica, Sirchia, Silvia Maria |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8615450/ https://www.ncbi.nlm.nih.gov/pubmed/34827619 http://dx.doi.org/10.3390/biom11111622 |
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