{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T01:58:55Z","timestamp":1789955935461,"version":"4.0.1"},"reference-count":47,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T00:00:00Z","timestamp":1509408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003784","name":"Great Ormond Street Hospital for Children","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003784","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Heart defects caused by loss\u2010of\u2010function mutations in\n                      <jats:italic>CHD7<\/jats:italic>\n                      are a frequent cause of morbidity and mortality in CHARGE syndrome. Here we review the clinical and molecular aspects of CHD7 that are related to the cardiovascular manifestations of the syndrome. The types of heart defects found in patients with\n                      <jats:italic>CHD7<\/jats:italic>\n                      mutations are variable, with an overrepresentation of atrioventricular septal defect and outflow tract defect including aortic arch anomalies compared to nonsyndromic heart defects.\n                      <jats:italic>Chd7<\/jats:italic>\n                      haploinsufficiency in mouse is a good model for studying the heart effects seen in CHARGE syndrome, and mouse models reveal a role for\n                      <jats:italic>Chd7<\/jats:italic>\n                      in multiple lineages during heart development. Formation of the great vessels requires\n                      <jats:italic>Chd7<\/jats:italic>\n                      expression in the pharyngeal surface ectoderm, and this expression likely has an non\u2010autonomous effect on neural crest cells. In the cardiogenic mesoderm,\n                      <jats:italic>Chd7<\/jats:italic>\n                      is required for atrioventricular cushion development and septation of the outflow tract. Emerging knowledge about the function of CHD7 in the heart indicates that it may act in concert with transcription factors such as TBX1 and SMADs to regulate genes such as p53 and the cardiac transcription factor\n                      <jats:italic>NKX2.5<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.c.31590","type":"journal-article","created":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T12:26:38Z","timestamp":1509452798000},"page":"487-495","source":"Crossref","is-referenced-by-count":24,"title":["Clinical and molecular effects of\n                    <i>CHD7<\/i>\n                    in the heart"],"prefix":"10.1002","volume":"175","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9438-2374","authenticated-orcid":false,"given":"Nicole","family":"Corsten\u2010Janssen","sequence":"first","affiliation":[{"name":"Department of Genetics, University of Groningen University Medical Center Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1487-4628","authenticated-orcid":false,"given":"Peter J.","family":"Scambler","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health Section Developmental Biology of Birth Defects London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,31]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0241"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08733"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.07.026"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0167278"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi375"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.004"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.028902"},{"issue":"5","key":"e_1_2_13_10_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000351127","article-title":"More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated","volume":"4","author":"Corsten\u2010Janssen N.","year":"2012","journal-title":"Molecular Syndromology"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36747"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000054"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcha.2016.05.015"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80555-3"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.60"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14435"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.825"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1003941"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11688"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-006-0107-6"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.047894"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1725"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3400"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1218072110"},{"issue":"9","key":"e_1_2_13_26_1","first-page":"1010","article-title":"The pattern of cardiovascular malformation in the CHARGE association","volume":"141","author":"Lin A. 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