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Mutations in three cohesin proteins, a key regulator of cohesin, NIPBL, and two structural components of the cohesin ring SMC1A and SMC3, etiologically account for about 65% of individuals with CdLS. Cohesin controls faithful chromosome segregation during the mitotic and meiotic cell cycles. Multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double\u2010strand DNA break repair and long\u2010range regulation of transcription. Moreover, chromosome instability was recently associated with defective sister chromatid cohesion in several cancer studies, and an increasing number of human developmental disorders is being reported to result from disruption of this pathway. Here, we will discuss the human disorders caused by alterations of cohesin function (termed \u2018cohesinopathies\u2019), with an emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS\u2010related proteins.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01271.x","type":"journal-article","created":{"date-parts":[[2009,9,25]],"date-time":"2009-09-25T13:02:21Z","timestamp":1253883741000},"page":"303-314","source":"Crossref","is-referenced-by-count":192,"title":["Cornelia de Lange syndrome, cohesin, and beyond"],"prefix":"10.1111","volume":"76","author":[{"given":"J","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ID","family":"Krantz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,9,24]]},"reference":[{"key":"e_1_2_9_2_2","first-page":"225","article-title":"Ein fall von symmetrischer monodaktylie durch Ulnadefekt, mit symmetrischer flughautbildung in den ellenbeugen, sowie anderen abnormitaten (zwerghaftogkeit, halsrippen, behaarung)","volume":"84","author":"Brachmann W.","year":"1916","journal-title":"Jarb Kinder Phys Erzie"},{"key":"e_1_2_9_3_2","unstructured":"VrolikW.Tabulae ad illustrandam embryogenesin hominis et mammalium tam naturalem quam abnormem. 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