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It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome. Furthermore, structure-abrogating mutations in NOTCH3 result in CADASIL. Here, we discuss these human congenital disorders in the context of known roles for Notch signaling during development. Drawing on recent analyses by the exome aggregation consortium (EXAC) and on recent studies of Notch signaling in model organisms, we further highlight additional Notch receptors or ligands that are likely to be involved in human genetic diseases.<\/jats:p>","DOI":"10.1242\/dev.148007","type":"journal-article","created":{"date-parts":[[2017,5,16]],"date-time":"2017-05-16T07:20:21Z","timestamp":1494919221000},"page":"1743-1763","source":"Crossref","is-referenced-by-count":176,"title":["The developmental biology of genetic Notch disorders"],"prefix":"10.1242","volume":"144","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2904-3808","authenticated-orcid":false,"given":"Jan","family":"Ma\u0161ek","sequence":"first","affiliation":[{"name":"Karolinska Institutet , Huddinge 14183 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8608-625X","authenticated-orcid":false,"given":"Emma R.","family":"Andersson","sequence":"additional","affiliation":[{"name":"Karolinska Institutet , Huddinge 14183 , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","reference":[{"key":"2024061213254153200_DEV148007C1","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.jns.2016.05.061","article-title":"Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family","volume":"367","author":"Abou Al-Shaar","year":"2016","journal-title":"J. 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