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• W1971125433 endingPage "e1004036" @default.
• W1971125433 startingPage "e1004036" @default.
• W1971125433 abstract "Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects. Not surprisingly, RBS and CdLS arise from mutations within a single pathway--here involving cohesion. Sister chromatid tethering reactions that comprise cohesion are required for high fidelity chromosome segregation, but cohesin tethers also regulate gene transcription, promote DNA repair, and impact DNA replication. Currently, RBS is thought to arise from elevated levels of apoptosis, mitotic failure, and limited progenitor cell proliferation, while CdLS is thought to arise, instead, from transcription dysregulation. Here, we review new information that implicates RBS gene mutations in altered transcription profiles. We propose that cohesin-dependent transcription dysregulation may extend to other developmental maladies; the diagnoses of which are complicated through multi-functional proteins that manifest a sliding scale of diverse and severe phenotypes. We further review evidence that cohesinopathies are more common than currently posited." @default.
• W1971125433 created "2016-06-24" @default.
• W1971125433 creator A5009065201 @default.
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• W1971125433 creator A5089000041 @default.
• W1971125433 date "2013-12-19" @default.
• W1971125433 modified "2023-09-26" @default.
• W1971125433 title "Cohesinopathies of a Feather Flock Together" @default.
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• W1971125433 doi "https://doi.org/10.1371/journal.pgen.1004036" @default.
• W1971125433 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3868590" @default.
• W1971125433 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24367282" @default.
• W1971125433 hasPublicationYear "2013" @default.
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