{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T13:51:10Z","timestamp":1762782670573,"version":"3.37.3"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T00:00:00Z","timestamp":1639440000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,20]]},"DOI":"10.1093\/qjmed\/hcab317","type":"journal-article","created":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T12:15:18Z","timestamp":1639138518000},"page":"256-258","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a novel GATA binding protein 5 variant (c.830C>T\/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot"],"prefix":"10.1093","volume":"115","author":[{"given":"J -Y","family":"Jin","sequence":"first","affiliation":[{"name":"School of Life Sciences, Central South University, No. 932 Lushannan Road, Changsha, Hunan Province, 410000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L -P","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis, Shenzhen Longgang District Maternity and Child Healthcare Hospital, No. 6 Ailong Road, Shenzhen, Guangdong Province, 518100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H -C","family":"Pi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis, Shenzhen Longgang District Maternity and Child Healthcare Hospital, No. 6 Ailong Road, Shenzhen, Guangdong Province, 518100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H -F","family":"Wu","sequence":"additional","affiliation":[{"name":"Obstetric Inpatient Department, Shenzhen Longgang District Maternity and Child Healthcare Hospital, No. 6 Ailong Road, Shenzhen, Guangdong Province, 518100, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-3615","authenticated-orcid":false,"given":"R","family":"Xiang","sequence":"additional","affiliation":[{"name":"Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, No. 932 Lushannan Road, Changsha, Hunan Province, 410000, China"},{"name":"Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, No. 932 Lushannan Road, Changsha, Hunan Province, 410000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,12,14]]},"reference":[{"key":"2022042015330283500_hcab317-B1","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"key":"2022042015330283500_hcab317-B2","doi-asserted-by":"crossref","first-page":"34","DOI":"10.7150\/ijms.5270","article-title":"GATA5 loss-of-function mutations underlie tetralogy of Fallot","volume":"10","author":"Wei","year":"2013","journal-title":"Int J Med Sci"},{"key":"2022042015330283500_hcab317-B3","doi-asserted-by":"crossref","first-page":"1462","DOI":"10.1016\/S0140-6736(09)60657-7","article-title":"Tetralogy of Fallot","volume":"374","author":"Apitz","year":"2009","journal-title":"Lancet"},{"key":"2022042015330283500_hcab317-B4","doi-asserted-by":"crossref","first-page":"253","DOI":"10.31083\/j.rcm.2020.02.5104","article-title":"Potential roles of GATA binding protein 5 in cardiovascular diseases","volume":"21","author":"Song","year":"2020","journal-title":"Rev Cardiovasc Med"},{"key":"2022042015330283500_hcab317-B5","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/s12967-017-1173-0","article-title":"Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation","volume":"15","author":"Qian","year":"2017","journal-title":"J Transl Med"},{"key":"2022042015330283500_hcab317-B6","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.3892\/ijmm.2014.1700","article-title":"GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve","volume":"33","author":"Shi","year":"2014","journal-title":"Int J Mol Med"},{"key":"2022042015330283500_hcab317-B7","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/mgg3.190","article-title":"GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient","volume":"4","author":"Kassab","year":"2016","journal-title":"Mol Genet Genomic Med"},{"key":"2022042015330283500_hcab317-B8","first-page":"1336","article-title":"Sevoflurane promotes the proliferation of HUVECs by activating VEGF signaling","volume":"19","author":"Wang","year":"2020","journal-title":"Exp Ther Med"},{"key":"2022042015330283500_hcab317-B9","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.yjmcc.2012.05.009","article-title":"Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease","volume":"53","author":"Padang","year":"2012","journal-title":"J Mol Cell Cardiol"},{"key":"2022042015330283500_hcab317-B10","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.ijcard.2012.09.039","article-title":"Prevalence and spectrum of GATA5 mutations associated with congenital heart disease","volume":"165","author":"Jiang","year":"2013","journal-title":"Int J Cardiol"}],"container-title":["QJM: An International Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/qjmed\/advance-article-pdf\/doi\/10.1093\/qjmed\/hcab317\/41903401\/hcab317.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/115\/4\/256\/43402653\/hcab317.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/115\/4\/256\/43402653\/hcab317.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T15:33:44Z","timestamp":1650468824000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/qjmed\/article\/115\/4\/256\/6460831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,14]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,12,14]]},"published-print":{"date-parts":[[2022,4,20]]}},"URL":"https:\/\/doi.org\/10.1093\/qjmed\/hcab317","relation":{},"ISSN":["1460-2725","1460-2393"],"issn-type":[{"type":"print","value":"1460-2725"},{"type":"electronic","value":"1460-2393"}],"subject":[],"published-other":{"date-parts":[[2022,4,1]]},"published":{"date-parts":[[2021,12,14]]}}}