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Article

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes

20 Feb 2025

Abstract excerpt

The cohesin protein complex is essential for the formation of topologically associating domains (TADs) and chromatin loops on interphase chromosomes. 1 , 2 , 3 , 4 , 5 For the loading onto chromosomes, cohesin requires the cohesin loader complex formed by NIPBL 6 , 7 , 8 and MAU2. 9 Cohesin localizes at enhancers and gene promoters with NIPBL in mammalian cells 10 , 11 , 12 , 13 , 14 and forms enhancer-promoter...

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PMID: 39983729
DOI: 10.1016/j.cub.2025.01.044

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A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromesPMID 39983729Read ↗

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Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.Semantic proximity Read ↗

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Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Semantic proximity Read ↗

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The effect of Nipped-B-Like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange SyndromeSemantic proximity Read ↗

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.Semantic proximity Read ↗

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