{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:19:27Z","timestamp":1778631567014,"version":"3.51.4"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100011665","name":"Deanship of Scientific Research, King Saud University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004054","name":"King Abdulaziz University","doi-asserted-by":"publisher","award":["G:483-290-1442"],"award-info":[{"award-number":["G:483-290-1442"]}],"id":[{"id":"10.13039\/501100004054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2023,1]]},"DOI":"10.1016\/j.gene.2022.146909","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T11:57:33Z","timestamp":1663934253000},"page":"146909","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot"],"prefix":"10.1016","volume":"851","author":[{"given":"Nuha","family":"Alrayes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bayan A","family":"Mallah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noha M.","family":"Issa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babajan","family":"Banaganapalli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noor","family":"Ahmad Shaik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalidah K.","family":"Nasser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bandar Ali","family":"Alshehri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahurul A.","family":"Bhuiyan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amnah Y.","family":"Bdier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jumana Y.","family":"Al-Aama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.gene.2022.146909_b0005","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1542\/pir.2017-0032","article-title":"Congenital heart disease","volume":"38","author":"Puri","year":"2017","journal-title":"Pediatr. Rev."},{"issue":"21","key":"10.1016\/j.gene.2022.146909_b0010","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis","volume":"58","author":"van der Linde","year":"2011","journal-title":"J Am Coll Cardiol."},{"issue":"2","key":"10.1016\/j.gene.2022.146909_b0015","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1097\/CRD.0000000000000170","article-title":"Genetic origins of tetralogy of fallot","volume":"26","author":"Morgenthau","year":"2018","journal-title":"Cardiol. Rev."},{"issue":"Suppl 2","key":"10.1016\/j.gene.2022.146909_b0020","first-page":"S157","article-title":"Congenital heart disease in Saudi Arabia: current epidemiology and future projections","volume":"12","author":"Alabdulgader","year":"2006","journal-title":"East Mediterr Health J."},{"issue":"9699","key":"10.1016\/j.gene.2022.146909_b0025","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":"The Lancet."},{"issue":"5","key":"10.1016\/j.gene.2022.146909_b0030","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1111\/pan.13569","article-title":"Tetralogy of Fallot: Everything you wanted to know but were afraid to ask","volume":"29","author":"Wise\u2010Faberowski","year":"2019","journal-title":"Paediatr Anaesth."},{"issue":"4","key":"10.1016\/j.gene.2022.146909_b0035","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1161\/CIRCRESAHA.112.300853","article-title":"Genetics of congenital heart disease: the glass half empty","volume":"112","author":"Fahed","year":"2013","journal-title":"Circ. Res."},{"issue":"11","key":"10.1016\/j.gene.2022.146909_b0040","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1038\/ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","volume":"49","author":"Jin","year":"2017","journal-title":"Nat Genet."},{"issue":"10","key":"10.1016\/j.gene.2022.146909_b0045","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/jhg.2010.84","article-title":"A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect","volume":"55","author":"Lin","year":"2010","journal-title":"J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.gene.2022.146909_b0050","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.2010.01435.x","article-title":"Genetic factors in non-syndromic congenital heart malformations","volume":"78","author":"Wessels","year":"2010","journal-title":"Clin. Genet."},{"issue":"4","key":"10.1016\/j.gene.2022.146909_b0055","doi-asserted-by":"crossref","first-page":"323","DOI":"10.7150\/ijms.17834","article-title":"TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus","volume":"14","author":"Huang","year":"2017","journal-title":"Int. J. Med. Sci."},{"issue":"8","key":"10.1016\/j.gene.2022.146909_b0060","doi-asserted-by":"crossref","first-page":"e95453","DOI":"10.1371\/journal.pone.0095453","article-title":"Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot","volume":"9","author":"T\u00f6pf","year":"2014","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.gene.2022.146909_b0065","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/s41390-020-0760-6","article-title":"Dysregulation of Notch signaling in cardiac mesenchymal cells of patients with tetralogy of Fallot","volume":"88","author":"Kozyrev","year":"2020","journal-title":"Pediatr. Res."},{"issue":"4","key":"10.1016\/j.gene.2022.146909_b0070","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1161\/CIRCRESAHA.118.313250","article-title":"Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot","volume":"124","author":"Page","year":"2019","journal-title":"Circ Res."},{"issue":"2","key":"10.1016\/j.gene.2022.146909_b0075","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.bbrc.2010.04.124","article-title":"Mutations in VEGFA are associated with congenital left ventricular outflow tract obstruction","volume":"396","author":"Zhao","year":"2010","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"1","key":"10.1016\/j.gene.2022.146909_b0080","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.devcel.2007.06.006","article-title":"Wnt\/\u03b2-Catenin Signaling and Cardiogenesis: Timing Does Matter","volume":"13","author":"Tzahor","year":"2007","journal-title":"Dev. Cell"},{"issue":"11","key":"10.1016\/j.gene.2022.146909_b0085","first-page":"1307","article-title":"Use of case-parents trio for epidemiological studies of association between genetic polymorphisms and complex diseases","volume":"130","author":"Santos","year":"2002","journal-title":"Rev. Med. Chil."},{"issue":"8","key":"10.1016\/j.gene.2022.146909_b0090","doi-asserted-by":"crossref","first-page":"1884","DOI":"10.1111\/j.1538-7836.2005.01371.x","article-title":"Beyond endocytosis: LRP function in cell migration, proliferation and vascular permeability","volume":"3","author":"Lillis","year":"2005","journal-title":"J. Thrombosis Haemostasis : JTH."},{"key":"10.1016\/j.gene.2022.146909_b0095","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2013\/152163","article-title":"LRP-1: a checkpoint for the extracellular matrix proteolysis","volume":"2013","author":"Etique","year":"2013","journal-title":"Biomed Res Int."},{"issue":"7553","key":"10.1016\/j.gene.2022.146909_b0100","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/nature14269","article-title":"Global genetic analysis in mice unveils central role for cilia in congenital heart disease","volume":"521","author":"Li","year":"2015","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.gene.2022.146909_b0105","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/j.cell.2005.06.032","article-title":"Role of endocytosis in cellular uptake of sex steroids","volume":"122","author":"Hammes","year":"2005","journal-title":"Cell"},{"issue":"23","key":"10.1016\/j.gene.2022.146909_b0110","doi-asserted-by":"crossref","first-page":"4311","DOI":"10.1242\/dev.084467","article-title":"Endocytic receptor-mediated control of morphogen signaling","volume":"139","author":"Willnow","year":"2012","journal-title":"Development (Cambridge, England)."},{"issue":"1","key":"10.1016\/j.gene.2022.146909_b0115","doi-asserted-by":"crossref","DOI":"10.1038\/s42003-020-1035-9","article-title":"Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow lengthening","volume":"3","author":"Lin","year":"2020","journal-title":"Commun. Biol."},{"issue":"3","key":"10.1016\/j.gene.2022.146909_b0120","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1161\/ATVBAHA.113.301924","article-title":"Low-density lipoprotein receptor-related protein-1: role in the regulation of vascular integrity","volume":"34","author":"Strickland","year":"2014","journal-title":"Arterioscler Thromb Vasc Biol."},{"issue":"4","key":"10.1016\/j.gene.2022.146909_b0125","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1021\/acs.chemrev.7b00305","article-title":"Electrostatic Interactions in Protein Structure, Folding, Binding, and Condensation","volume":"118","author":"Zhou","year":"2018","journal-title":"Chem Rev."},{"issue":"2","key":"10.1016\/j.gene.2022.146909_b0130","doi-asserted-by":"crossref","first-page":"e0118684","DOI":"10.1371\/journal.pone.0118684","article-title":"How structural and physicochemical determinants shape sequence constraints in a functional enzyme","volume":"10","author":"Abriata","year":"2015","journal-title":"PLoS ONE"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111922007296?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111922007296?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T23:53:45Z","timestamp":1778630025000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111922007296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":26,"alternative-id":["S0378111922007296"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2022.146909","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2023,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2022.146909","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"146909"}}