{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:50:46Z","timestamp":1778719846148,"version":"3.51.4"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070943"],"award-info":[{"award-number":["82070943"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["22Y11910400"],"award-info":[{"award-number":["22Y11910400"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["20Y11911000"],"award-info":[{"award-number":["20Y11911000"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1016\/j.gene.2024.148600","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T02:50:14Z","timestamp":1716432614000},"page":"148600","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort"],"prefix":"10.1016","volume":"925","author":[{"given":"Ze-Xu","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wan-Nan","family":"Jia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-5733","authenticated-orcid":false,"given":"Yong-Xiang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.gene.2024.148600_b0005","doi-asserted-by":"crossref","first-page":"2494","DOI":"10.1002\/ajmg.a.40508","article-title":"A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome","volume":"176","author":"Abarca","year":"2018","journal-title":"Am J Med Genet a."},{"key":"10.1016\/j.gene.2024.148600_b0010","doi-asserted-by":"crossref","DOI":"10.1016\/j.preteyeres.2020.100902","article-title":"Zinn's zonule","volume":"82","author":"Bassnett","year":"2021","journal-title":"Prog Retin Eye Res."},{"issue":"23","key":"10.1016\/j.gene.2024.148600_b0015","doi-asserted-by":"crossref","first-page":"7826","DOI":"10.1074\/jbc.RA119.012202","article-title":"Kinetic parameters of human aspartate\/asparagine-\u03b2-hydroxylase suggest that it has a possible function in oxygen sensing","volume":"295","author":"Brewitz","year":"2020","journal-title":"J Biol Chem."},{"issue":"8","key":"10.1016\/j.gene.2024.148600_b0020","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2022.102129","article-title":"Combined proteomic and biochemical analyses redefine the consensus sequence requirement for epidermal growth factor-like domain hydroxylation","volume":"298","author":"Brewitz","year":"2022","journal-title":"J Biol Chem."},{"key":"10.1016\/j.gene.2024.148600_b0025","article-title":"Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis","author":"Chen","year":"2021","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.gene.2024.148600_b0030","doi-asserted-by":"crossref","DOI":"10.1002\/humu.24283","article-title":"Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies","author":"Chen","year":"2021","journal-title":"Hum Mutat"},{"key":"10.1016\/j.gene.2024.148600_b0035","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ajo.2021.11.014","article-title":"Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients","volume":"237","author":"Chen","year":"2022","journal-title":"Am J Ophthalmol."},{"issue":"12","key":"10.1016\/j.gene.2024.148600_b0040","doi-asserted-by":"crossref","first-page":"2141","DOI":"10.1002\/humu.24483","article-title":"Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype\u2013phenotype relationships","volume":"43","author":"Chen","year":"2022","journal-title":"Hum Mutat."},{"issue":"1","key":"10.1016\/j.gene.2024.148600_b0045","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1167\/iovs.16-20866","article-title":"Proteomic Analysis of the Bovine and Human Ciliary Zonule","volume":"58","author":"De Maria","year":"2017","journal-title":"Invest Ophthalmol vis Sci."},{"issue":"15","key":"10.1016\/j.gene.2024.148600_b0050","doi-asserted-by":"crossref","first-page":"12970","DOI":"10.1074\/jbc.M110389200","article-title":"Absence of post-translational aspartyl beta-hydroxylation of epidermal growth factor domains in mice leads to developmental defects and an increased incidence of intestinal neoplasia","volume":"277","author":"Dinchuk","year":"2002","journal-title":"J Biol Chem."},{"issue":"9","key":"10.1016\/j.gene.2024.148600_b0055","doi-asserted-by":"crossref","first-page":"e0183370","DOI":"10.1371\/journal.pone.0183370","article-title":"Biometric and structural ocular manifestations of Marfan syndrome","volume":"12","author":"Gehle","year":"2017","journal-title":"Plos One."},{"issue":"4","key":"10.1016\/j.gene.2024.148600_b0060","doi-asserted-by":"crossref","first-page":"297","DOI":"10.17305\/bjbms.2018.3539","article-title":"Recent advances in research on aspartate \u03b2-hydroxylase (ASPH) in pancreatic cancer: A brief update","volume":"18","author":"Hou","year":"2018","journal-title":"Bosn J Basic Med Sci."},{"issue":"10","key":"10.1016\/j.gene.2024.148600_b0065","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2022.104572","article-title":"Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome","volume":"65","author":"Jones","year":"2022","journal-title":"Eur J Med Genet."},{"issue":"4","key":"10.1016\/j.gene.2024.148600_b0070","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1097\/MCD.0000000000000287","article-title":"Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis","volume":"28","author":"Kulkarni","year":"2019","journal-title":"Clin Dysmorphol."},{"issue":"1","key":"10.1016\/j.gene.2024.148600_b0075","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1186\/s13023-022-02544-x","article-title":"Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype\u2013phenotype correlation","volume":"17","author":"Li","year":"2022","journal-title":"Orphanet J Rare Dis."},{"issue":"5","key":"10.1016\/j.gene.2024.148600_b0085","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.ajhg.2014.04.002","article-title":"Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome","volume":"94","author":"Patel","year":"2014","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.gene.2024.148600_b0090","doi-asserted-by":"crossref","first-page":"872","DOI":"10.3389\/fcell.2020.00872","article-title":"ASPH Regulates Osteogenic Differentiation and Cellular Senescence of BMSCs","volume":"8","author":"Peng","year":"2020","journal-title":"Front Cell Dev Biol."},{"issue":"1","key":"10.1016\/j.gene.2024.148600_b0095","doi-asserted-by":"crossref","first-page":"4910","DOI":"10.1038\/s41467-019-12711-7","article-title":"Aspartate\/asparagine-\u03b2-hydroxylase crystal structures reveal an unexpected epidermal growth factor-like domain substrate disulfide pattern","volume":"10","author":"Pfeffer","year":"2019","journal-title":"Nat Commun."},{"issue":"12","key":"10.1016\/j.gene.2024.148600_b0100","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1097\/j.jcrs.0000000000001008","article-title":"Epidemiology of ectopia lentis and outcomes after surgery in a Danish population","volume":"48","author":"Rasul","year":"2022","journal-title":"J Cataract Refract Surg."},{"issue":"5","key":"10.1016\/j.gene.2024.148600_b0105","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"issue":"1","key":"10.1016\/j.gene.2024.148600_b0110","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1080\/13816810.2020.1836659","article-title":"A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome","volume":"42","author":"Senthil","year":"2021","journal-title":"Ophthalmic Genet."},{"issue":"4","key":"10.1016\/j.gene.2024.148600_b0115","doi-asserted-by":"crossref","first-page":"660","DOI":"10.4103\/ijo.IJO_1249_19","article-title":"Recurrent unintentional filtering blebs after vitrectomy: A case report","volume":"68","author":"Shanmugam","year":"2020","journal-title":"Indian J Ophthalmol."},{"issue":"4","key":"10.1016\/j.gene.2024.148600_b0120","doi-asserted-by":"crossref","first-page":"163","DOI":"10.3109\/13816819509057858","article-title":"A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism","volume":"16","author":"Shawaf","year":"1995","journal-title":"Ophthalmic Genet."},{"issue":"1","key":"10.1016\/j.gene.2024.148600_b0125","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1080\/13816810.2018.1561904","article-title":"Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation","volume":"40","author":"Siggs","year":"2019","journal-title":"Ophthalmic Genet."},{"issue":"1","key":"10.1016\/j.gene.2024.148600_b0130","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1186\/s13023-020-01569-4","article-title":"Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement","volume":"15","author":"Stengl","year":"2020","journal-title":"Orphanet J Rare Dis."},{"issue":"6","key":"10.1016\/j.gene.2024.148600_b0135","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/s11832-010-0295-1","article-title":"The diagnostic value of the facial features of Marfan syndrome","volume":"4","author":"Ting","year":"2010","journal-title":"J Child Orthop."},{"issue":"4","key":"10.1016\/j.gene.2024.148600_b0140","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1080\/13816810.2021.1923039","article-title":"Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH","volume":"42","author":"Van Hoorde","year":"2021","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.gene.2024.148600_b0145","doi-asserted-by":"crossref","first-page":"33002","DOI":"10.1038\/srep33002","article-title":"Genetic testing of 248 Chinese aortopathy patients using a panel assay","volume":"6","author":"Yang","year":"2016","journal-title":"Sci Rep."},{"key":"10.1016\/j.gene.2024.148600_b0150","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2021.108811","article-title":"Single-cell RNA-sequencing analysis of the ciliary epithelium and contiguous tissues in the mouse eye","volume":"213","author":"Youkilis","year":"2021","journal-title":"Exp Eye Res."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111924004815?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111924004815?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T21:42:59Z","timestamp":1718314979000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111924004815"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10]]},"references-count":29,"alternative-id":["S0378111924004815"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2024.148600","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2024.148600","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"148600"}}