{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T10:48:59Z","timestamp":1748861339946},"reference-count":36,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","journalofsurgicalresearch.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Surgical Research"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1016\/j.jss.2023.12.004","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T04:28:11Z","timestamp":1704947291000},"page":"18-28","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing"],"prefix":"10.1016","volume":"296","author":[{"given":"Xiaohui","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da","family":"Zhen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faling","family":"Yi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianyi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuemei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuhe","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuguang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yemeng","family":"Sheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianbo","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongjun","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jss.2023.12.004_bib1","series-title":"The Role of Epigenetics in Congenital Heart Disease","first-page":"12","author":"Lim","year":"2021"},{"key":"10.1016\/j.jss.2023.12.004_bib2","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S2352-4642(19)30402-X","article-title":"Global, regional, and national burden of congenital heart disease, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017","volume":"4","year":"2020","journal-title":"Lancet Child Adolesc Health"},{"key":"10.1016\/j.jss.2023.12.004_bib3","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1111\/echo.14511","article-title":"Echocardiographic evaluation of ventricular septal defects","volume":"37","author":"Nayak","year":"2020","journal-title":"Echocardiography"},{"key":"10.1016\/j.jss.2023.12.004_bib4","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1017\/S1047951120004576","article-title":"Ventricular septal defect: diagnosis and treatments in the neonates: a systematic review","volume":"31","author":"Adan","year":"2021","journal-title":"Cardiol Young"},{"key":"10.1016\/j.jss.2023.12.004_bib5","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/s13052-021-01022-7","article-title":"First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD)","volume":"47","author":"Sarwar","year":"2021","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.jss.2023.12.004_bib6","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2022.1062403","article-title":"Integrated genomic analysis identifies novel low-frequency cis-regulatory variant rs2279658 associated with VSD risk in Chinese children","volume":"10","author":"Jin","year":"2022","journal-title":"Front Cell Dev Biol"},{"key":"10.1016\/j.jss.2023.12.004_bib7","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1007\/s00246-019-02099-y","article-title":"A novel somatic variant in HEY2 unveils an alternative splicing isoform linked to ventricular septal defect","volume":"40","author":"Fardoun","year":"2019","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.jss.2023.12.004_bib8","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/s41569-021-00587-4","article-title":"Genomic frontiers in congenital heart disease","volume":"19","author":"Morton","year":"2022","journal-title":"Nat Rev Cardiol"},{"key":"10.1016\/j.jss.2023.12.004_bib9","first-page":"173","article-title":"Detection of novel pathogenic variants in two families with recurrent fetal congenital heart defects","volume":"16","author":"Cai","year":"2023","journal-title":"Pharmacogenomics Pers Med"},{"key":"10.1016\/j.jss.2023.12.004_bib10","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s13073-019-0709-8","article-title":"De novo variants in exomes of congenital heart disease patients identify risk genes and pathways","volume":"12","author":"Sevim Bayrak","year":"2020","journal-title":"Genome Med"},{"key":"10.1016\/j.jss.2023.12.004_bib11","doi-asserted-by":"crossref","first-page":"e1944","DOI":"10.1002\/mgg3.1944","article-title":"Mutation spectrum of congenital heart disease in a consanguineous Turkish population","volume":"10","author":"Dong","year":"2022","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.jss.2023.12.004_bib12","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1089\/ham.2019.0110","article-title":"High altitude as a cause of congenital heart defects: a medical hypothesis rediscovered in Ecuador","volume":"21","author":"Gonz\u00e1lez-Andrade","year":"2020","journal-title":"High Alt Med Biol"},{"key":"10.1016\/j.jss.2023.12.004_bib13","doi-asserted-by":"crossref","first-page":"389","DOI":"10.2147\/PGPM.S404438","article-title":"NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 genetic variations are associated with ventricular septal defect in the Chinese Tibetan population through whole-exome sequencing","volume":"16","author":"Zhang","year":"2023","journal-title":"Pharmacogenomics personalized Med"},{"key":"10.1016\/j.jss.2023.12.004_bib14","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1093\/hmg\/ddx070","article-title":"ATP13A2\/PARK9 regulates endo-\/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function","volume":"26","author":"Demirsoy","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jss.2023.12.004_bib15","doi-asserted-by":"crossref","first-page":"31198","DOI":"10.1073\/pnas.1922342117","article-title":"ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress","volume":"117","author":"Vrijsen","year":"2020","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.jss.2023.12.004_bib16","first-page":"1","article-title":"ATP13A2 deficiency disrupts lysosomal polyamine export","volume":"578","author":"Veen","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.jss.2023.12.004_bib17","doi-asserted-by":"crossref","first-page":"e0276823","DOI":"10.1371\/journal.pone.0276823","article-title":"ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway","volume":"17","author":"Hatori","year":"2022","journal-title":"PloS one"},{"key":"10.1016\/j.jss.2023.12.004_bib18","doi-asserted-by":"crossref","DOI":"10.1155\/2021\/3259963","article-title":"Emerging role of mitophagy in the heart: therapeutic potentials to modulate mitophagy in cardiac diseases","volume":"2021","author":"Luan","year":"2021","journal-title":"Oxidative Med Cell longevity"},{"key":"10.1016\/j.jss.2023.12.004_bib19","doi-asserted-by":"crossref","first-page":"626","DOI":"10.3390\/ijms18040626","article-title":"Exome sequencing identified a novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly","volume":"18","author":"You","year":"2017","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jss.2023.12.004_bib20","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1093\/ejcts\/ezw277","article-title":"Fibrillin 2 is upregulated in the ascending aorta of patients with bicuspid aortic valve","volume":"51","author":"Rueda-Mart\u00ednez","year":"2017","journal-title":"Eur J Cardio Thorac Surg"},{"key":"10.1016\/j.jss.2023.12.004_bib21","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1007\/s00380-020-01710-0","article-title":"Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients","volume":"36","author":"Wu","year":"2021","journal-title":"Heart and vessels"},{"key":"10.1016\/j.jss.2023.12.004_bib22","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.lfs.2018.01.021","article-title":"Defining the molecular signatures of human right heart failure","volume":"196","author":"Williams","year":"2018","journal-title":"Life Sci"},{"key":"10.1016\/j.jss.2023.12.004_bib23","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-55570-4","article-title":"Altered microRNA and target gene expression related to Tetralogy of Fallot","volume":"9","author":"Grunert","year":"2019","journal-title":"Sci Rep"},{"key":"10.1016\/j.jss.2023.12.004_bib24","doi-asserted-by":"crossref","first-page":"27812","DOI":"10.18632\/oncotarget.15434","article-title":"Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population","volume":"8","author":"Li","year":"2017","journal-title":"Oncotarget"},{"key":"10.1016\/j.jss.2023.12.004_bib25","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1186\/s13256-022-03296-9","article-title":"Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report","volume":"16","author":"Walsh","year":"2022","journal-title":"J Med Case Rep"},{"key":"10.1016\/j.jss.2023.12.004_bib26","doi-asserted-by":"crossref","first-page":"221","DOI":"10.2169\/internalmedicine.3625-19","article-title":"Pulmonary hypertension and hereditary hemorrhagic telangiectasia related to an ACVRL1 mutation","volume":"59","author":"Yokokawa","year":"2020","journal-title":"Intern Med"},{"key":"10.1016\/j.jss.2023.12.004_bib27","article-title":"The mitochondrial chaperone TRAP1 as a candidate target of oncotherapy","volume":"10","author":"Xie","year":"2020","journal-title":"Frontiers in oncology"},{"key":"10.1016\/j.jss.2023.12.004_bib28","doi-asserted-by":"crossref","DOI":"10.3390\/genes9040195","article-title":"TRAP1 regulation of cancer metabolism: dual role as oncogene or tumor suppressor","volume":"9","author":"Matassa","year":"2018","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.jss.2023.12.004_bib29","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.semcancer.2021.07.002","article-title":"The molecular chaperone TRAP1 in cancer: from the basics of biology to pharmacological targeting","volume":"76","author":"Masgras","year":"2021","journal-title":"Semin Cancer Biol"},{"key":"10.1016\/j.jss.2023.12.004_bib30","doi-asserted-by":"crossref","first-page":"649","DOI":"10.3390\/ijms23020649","article-title":"Heat shock protein 90 as therapeutic target for CVDs and heart ageing","volume":"23","author":"Dabravolski","year":"2022","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jss.2023.12.004_bib31","first-page":"651","article-title":"[Effects and mechanism of mitochondrial transcription factor A and cytochrome c oxidase pathway in the energy production of hypoxic cardiomyocytes of rats regulated by tumor necrosis factor receptor associated protein 1]","volume":"36","author":"Xiang","year":"2020","journal-title":"Zhonghua Shao Shang Za Zhi"},{"key":"10.1016\/j.jss.2023.12.004_bib32","doi-asserted-by":"crossref","first-page":"3454","DOI":"10.3390\/ijms24043454","article-title":"A comparative review of pregnancy and cancer and their association with endoplasmic reticulum aminopeptidase 1 and 2","volume":"24","author":"Hur","year":"2023","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.jss.2023.12.004_bib33","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.humimm.2019.02.011","article-title":"Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations","volume":"80","author":"Yao","year":"2019","journal-title":"Hum Immunol"},{"key":"10.1016\/j.jss.2023.12.004_bib34","doi-asserted-by":"crossref","DOI":"10.1155\/2021\/5515868","article-title":"Associations between ERAP1 gene polymorphisms psoriasis susceptibility: a meta-analysis of case-control studies","volume":"2021","author":"Wu","year":"2021","journal-title":"Biomed Res Int"},{"key":"10.1016\/j.jss.2023.12.004_bib35","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.gene.2012.10.063","article-title":"Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha\/beta\/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain","volume":"512","author":"Sunker","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.jss.2023.12.004_bib36","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/ppul.22930","article-title":"Differential DNA methylation profiles of infants exposed to maternal asthma during pregnancy","volume":"49","author":"Gunawardhana","year":"2014","journal-title":"Pediatr Pulmonol"}],"container-title":["Journal of Surgical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022480423006510?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022480423006510?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T12:29:17Z","timestamp":1726835357000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022480423006510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":36,"alternative-id":["S0022480423006510"],"URL":"https:\/\/doi.org\/10.1016\/j.jss.2023.12.004","relation":{},"ISSN":["0022-4804"],"issn-type":[{"type":"print","value":"0022-4804"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing","name":"articletitle","label":"Article Title"},{"value":"Journal of Surgical Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jss.2023.12.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}