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• W2726600314 startingPage "139" @default.
• W2726600314 abstract "Abstract Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, they point toward a global deregulation of the transcriptional gene expression program. Cohesin is associated with the boundaries of chromosome domains and with enhancer and promoter regions connecting the three-dimensional genome organization with transcriptional regulation. Here, we show that connected gene communities, structures emerging from the interactions of noncoding regulatory elements and genes in the three-dimensional chromosomal space, provide a molecular explanation for the pathoetiology of CdLS associated with mutations in the cohesin-loading factor NIPBL and the cohesin subunit SMC1A. NIPBL and cohesin are important constituents of connected gene communities that are centrally positioned at noncoding regulatory elements. Accordingly, genes deregulated in CdLS are positioned within reach of NIPBL- and cohesin-occupied regions through promoter–promoter interactions. Our findings suggest a dynamic model where NIPBL loads cohesin to connect genes in communities, offering an explanation for the gene expression deregulation in the CdLS." @default.
• W2726600314 created "2017-07-14" @default.
• W2726600314 creator A5000039771 @default.
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• W2726600314 creator A5071651857 @default.
• W2726600314 creator A5086187082 @default.
• W2726600314 date "2017-07-05" @default.
• W2726600314 modified "2023-09-23" @default.
• W2726600314 title "Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome" @default.
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• W2726600314 doi "https://doi.org/10.1534/genetics.117.202291" @default.
• W2726600314 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5586368" @default.
• W2726600314 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28679547" @default.
• W2726600314 hasPublicationYear "2017" @default.

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