{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T02:10:24Z","timestamp":1777428624721,"version":"3.51.4"},"reference-count":0,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,15]],"date-time":"2019-03-15T00:00:00Z","timestamp":1552608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003708","name":"Cornelia de Lange Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, variable facial features and organ involvement, resulting in overlapping presentations, including established syndromes and newly described conditions. Individuals with all forms of CdLS have multifaceted complications, including neurodevelopmental, feeding, craniofacial, and communication. Coping mechanisms and management of challenging behaviors in CdLS, disruption of normal behaviors, and how behavior molds the life of the individual within the family is now better understood. Some psychotropic medications are known to be effective for behavior. Other medications, for example, Indomethacin, are being investigated for effects on gene expression, fetal brain tissue, brain morphology and function in <jats:italic>Drosophila<\/jats:italic>, mice, and human fibroblasts containing CdLS\u2010related mutations. Developmental studies have clarified the origin of cardiac defects and role of placenta in CdLS. Chromosome architecture and cohesin complex structure are elucidated, leading to a better understanding of regulatory aspects and controls. As examples, when mutations are present, the formation of loop domains by cohesin, facilitating enhancer\u2010promotor interactions, can be eliminated, and embryologically, the nuclear structure of zygotes is disrupted. Several important genes are now known to interact with cohesin, including Brca2. The following abstracts are from the 8th Cornelia de Lange Syndrome Scientific and Educational Symposium, held in June 2018, Minneapolis, MN, before the CdLS Foundation National Meeting, AMA CME credits provided by GBMC, Baltimore, MD. All studies have been approved by an ethics committee.<\/jats:p>","DOI":"10.1002\/ajmg.a.61108","type":"journal-article","created":{"date-parts":[[2019,3,15]],"date-time":"2019-03-15T10:45:57Z","timestamp":1552646757000},"page":"1080-1090","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7863-2994","authenticated-orcid":false,"given":"Antonie D.","family":"Kline","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Greater Baltimore Medical Center Harvey Institute for Human Genetics  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian D.","family":"Krantz","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia"},{"name":"Perelman School of Medicine at The University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashige","family":"Bando","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Structure and Function, Institute of Molecular and Cellular Biosciences The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuhiko","family":"Shirahige","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Structure and Function, Institute of Molecular and Cellular Biosciences The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephenson","family":"Chea","sequence":"additional","affiliation":[{"name":"Departments of Anatomy &amp; Neurobiology, Developmental and Cell Biology, and the Center for Complex Biological Systems University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toyonori","family":"Sakata","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Structure and Function, Institute of Molecular and Cellular Biosciences The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suhas","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Structural Biology Stanford University School of Medicine  Stanford California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dale","family":"Dorsett","sequence":"additional","affiliation":[{"name":"Edward A. Doisy Department of Biochemistry and Molecular Biology Saint Louis University School of Medicine  Saint Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijay Pratap","family":"Singh","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, and Department of Biochemistry and Molecular Biology University of Kansas School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer L.","family":"Gerton","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, and Department of Biochemistry and Molecular Biology University of Kansas School of Medicine  Kansas City Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia A.","family":"Horsfield","sequence":"additional","affiliation":[{"name":"Department of Pathology, Dunedin School of Medicine The University of Otago  Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne L.","family":"Calof","sequence":"additional","affiliation":[{"name":"Departments of Anatomy &amp; Neurobiology, Developmental and Cell Biology, and the Center for Complex Biological Systems University of California  Irvine California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivia","family":"Katz","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Grados","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Raible","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"Bara\u00f1ano","sequence":"additional","affiliation":[{"name":"Child Neurology and Developmental Medicine, Johns Hopkins University School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gholson","family":"Lyon","sequence":"additional","affiliation":[{"name":"Cold Spring Harbor Laboratory Cold Spring Harbor  New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Musio","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Biologic Research National Research Council  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheri S.","family":"Carrico","sequence":"additional","affiliation":[{"name":"Communication Sciences and Disorders Elmhurst College  Elmhurst Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas K.","family":"Clemens","sequence":"additional","affiliation":[{"name":"Department of Oral Maxillofacial Surgery and Dentistry Sinai Hospital of Baltimore, and Cross Keys Dental Associates  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patti","family":"Caudill","sequence":"additional","affiliation":[{"name":"Milton J. Dance, Jr. Head &amp; Neck Center Greater Baltimore Medical Center  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Massa","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Milan  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan E.","family":"McGill","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Developmental Neurology, Department of Neurology Washington University  St. Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aila","family":"Dommestrup","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute Johns Hopkins University School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"O'Connor","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute Johns Hopkins University School of Medicine  Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard E.","family":"Haaland","sequence":"additional","affiliation":[{"name":"Research Department Cornelia de Lange Syndrome Foundation  Avon Connecticut"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3,15]]},"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61108","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T21:56:53Z","timestamp":1694296613000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,15]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1002\/ajmg.a.61108"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61108","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,15]]},"assertion":[{"value":"2019-01-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}