{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:03:38Z","timestamp":1792641818228,"version":"4.5.0"},"reference-count":32,"publisher":"Wiley","issue":"7-8","license":[{"start":{"date-parts":[[2021,5,29]],"date-time":"2021-05-29T00:00:00Z","timestamp":1622246400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["FS\/16\/61\/32740"],"award-info":[{"award-number":["FS\/16\/61\/32740"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["RG151431880"],"award-info":[{"award-number":["RG151431880"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001674","name":"Fondation Leducq","doi-asserted-by":"publisher","award":["15CDV01"],"award-info":[{"award-number":["15CDV01"]}],"id":[{"id":"10.13039\/501100001674","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Congenital heart defects are a feature of several genetic haploinsufficiency syndromes, often involving transcriptional regulators. One property of haploinsufficient genes is their propensity for network interactions at the gene or protein level. In this article we took advantage of an online dataset of high throughput screening of mutations that are embryonic lethal in mice. Our aim was to identify new genes where the loss of function caused cardiovascular phenotypes resembling the 22q11.2 deletion syndrome models, that is, heterozygous and homozygous loss of <jats:italic>Tbx1<\/jats:italic>. One gene with a potentially haploinsufficient phenotype was identified, <jats:italic>Setd5<\/jats:italic>, thought to be involved in chromatin modification. We found murine <jats:italic>Setd5<\/jats:italic> haploinsufficiency to be associated with double outlet right ventricle and perimembranous ventricular septal defect, although no genetic interaction with <jats:italic>Tbx1<\/jats:italic> was detected. Conditional mutagenesis revealed that <jats:italic>Setd5<\/jats:italic> was required in cardiopharyngeal mesoderm for progression of the heart tube through the ballooning stage to create a four\u2010chambered heart.<\/jats:p>","DOI":"10.1002\/dvg.23421","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T09:54:45Z","timestamp":1622800485000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<i>Setd5<\/i> is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6387-347X","authenticated-orcid":false,"given":"Michelle Yu\u2010Qing","family":"Cheung","sequence":"first","affiliation":[{"name":"Developmental Biology and Cancer University College London Great Ormond Street Institute of Child Health  30 Guilford Street London WC1N 1EH United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5568-8752","authenticated-orcid":false,"given":"Catherine","family":"Roberts","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer University College London Great Ormond Street Institute of Child Health  30 Guilford Street London WC1N 1EH United Kingdom"},{"name":"Institute of Medical and Biomedical Education St. George's, University of London  Cranmer Terrace London SW17 0RE United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1487-4628","authenticated-orcid":false,"given":"Peter","family":"Scambler","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer University College London Great Ormond Street Institute of Child Health  30 Guilford Street London WC1N 1EH United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8579-7706","authenticated-orcid":false,"given":"Athanasia","family":"Stathopoulou","sequence":"additional","affiliation":[{"name":"Developmental Biology and Cancer University College London Great Ormond Street Institute of Child Health  30 Guilford Street London WC1N 1EH United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,29]]},"reference":[{"key":"e_1_2_1_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/heart.89.9.1110"},{"key":"e_1_2_1_7_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.057547"},{"key":"e_1_2_1_7_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9753"},{"key":"e_1_2_1_7_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.60.1.267"},{"key":"e_1_2_1_7_6_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fneur.2020.00631","article-title":"SETD5 gene Haploinsufficiency in three patients with suspected KBG syndrome","volume":"11","author":"Crippa M.","year":"2020","journal-title":"Frontiers in Neurology"},{"key":"e_1_2_1_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0266-2"},{"key":"e_1_2_1_7_8_1","unstructured":"DMDDDeciphering the Mechanisms of Developmental Disorders. 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