{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:39:50Z","timestamp":1777581590478,"version":"3.51.4"},"reference-count":42,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T00:00:00Z","timestamp":1642377600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"the fund for Sichuan Provincial People\u2019s Hospital","award":["2021QN01"],"award-info":[{"award-number":["2021QN01"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82000913"],"award-info":[{"award-number":["82000913"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101153"],"award-info":[{"award-number":["82101153"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the CAMS Innovation Fund for Medical Sciences","award":["2019-12M-5-032"],"award-info":[{"award-number":["2019-12M-5-032"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive age-appropriate eye examination and genetic analysis. Luciferase assay was performed to evaluate impacts of variants on Norrin\/\u03b2-catenin signaling activity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Here we report two novel NDP variants associated with FEVR in three families, including c.17T&gt;C (p.Leu6Pro) in family 1 and c.58G&gt;A (p.Gly20Arg) in family 2 and 3. These two variants were co-segregated with the disease phenotypes within each family. In addition, both variants resulted in compromised Norrin\/\u03b2-catenin signaling activity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study identified two FEVR-associated pathogenic variants in NDP, which expanded the variant spectrum and provided information for the genetic diagnosis of FEVR.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721221074209","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T07:40:40Z","timestamp":1642405240000},"page":"3220-3226","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy"],"prefix":"10.1177","volume":"32","author":[{"given":"Yujiao","family":"Peng","sequence":"first","affiliation":[{"name":"Sichuan 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