{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:30:24Z","timestamp":1759883424177,"version":"build-2065373602"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1016\/j.gene.2025.149699","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T23:04:10Z","timestamp":1753484650000},"page":"149699","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["A potentially pathogenic KDM5C variant in X-linked high myopia"],"prefix":"10.1016","volume":"965","author":[{"given":"Jianping","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yijia","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tengyan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yueyuan","family":"Lan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0219-2341","authenticated-orcid":false,"given":"Wenhui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binbin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.gene.2025.149699_b0005","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/81619","article-title":"Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness [Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.]","volume":"26","author":"Bech-Hansen","year":"2000","journal-title":"Nature Genetics"},{"issue":"10","key":"10.1016\/j.gene.2025.149699_b0010","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1002\/dvdy.24145","article-title":"Characterization of the Rx1-dependent transcriptome during early retinal development [Journal Article; Research Support, Non-U.S. Gov't]","volume":"243","author":"Giudetti","year":"2014","journal-title":"Developmental Dynamics"},{"issue":"8","key":"10.1016\/j.gene.2025.149699_b0015","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2024.114506","article-title":"Transcriptional programming mediated by the histone demethylase KDM5C regulates dendritic cell population heterogeneity and function [Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't]","volume":"43","author":"Guak","year":"2024","journal-title":"Cell Reports"},{"key":"10.1016\/j.gene.2025.149699_b0020","doi-asserted-by":"crossref","unstructured":"Hatch, H., & Secombe, J. (2022). Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome [Journal Article; Research Support, N.I.H., Extramural; Review]. Febs Journal, 289(24), 7776-7787. DOI: 10.1111\/febs.16204.","DOI":"10.1111\/febs.16204"},{"issue":"6","key":"10.1016\/j.gene.2025.149699_b0025","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/j.1399-0004.2006.00619.x","article-title":"Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2 [Journal Article; Review]","volume":"69","author":"Hever","year":"2006","journal-title":"Clin. Genet."},{"issue":"8004","key":"10.1016\/j.gene.2025.149699_b0030","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1038\/s41586-024-07067-y","article-title":"WNT signalling control by KDM5C during development affects cognition [Journal Article]","volume":"627","author":"Karwacki-Neisius","year":"2024","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.gene.2025.149699_b0035","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s13072-018-0241-x","article-title":"Physiological effects of KDM5C on neural crest migration and eye formation during vertebrate development [Journal Article; Research Support, Non-U.S. Gov't]","volume":"11","author":"Kim","year":"2018","journal-title":"Epigenetics & Chromatin"},{"key":"10.1016\/j.gene.2025.149699_b0040","doi-asserted-by":"crossref","unstructured":"Li, J., Gao, B., Guan, L., Xiao, X., Zhang, J., Li, S., Jiang, H., Jia, X., Yang, J., Guo, X., Yin, Y., Wang, J., & Zhang, Q. (2015). Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1 [Journal Article; Research Support, Non-U.S. Gov't]. Investigative Ophthalmology & Visual Science, 56(6), 4150-4155. DOI: 10.1167\/iovs.14-16356.","DOI":"10.1167\/iovs.14-16356"},{"key":"10.1016\/j.gene.2025.149699_b0045","first-page":"1048","article-title":"Insight into the molecular genetics of myopia [Journal Article; Research support, Non-U.S. Gov't; Review]","volume":"23","author":"Li","year":"2017","journal-title":"Mol. Vis."},{"issue":"1","key":"10.1016\/j.gene.2025.149699_b0050","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1167\/iovs.08-2385","article-title":"Estimating heritability and shared environmental effects for refractive error in twin and family studies [Journal Article; Research Support, Non-U.S. Gov't; Twin Study]","volume":"50","author":"Lopes","year":"2009","journal-title":"Investigative Ophthalmology & Visual Science"},{"issue":"2","key":"10.1016\/j.gene.2025.149699_b0055","first-page":"186","article-title":"Regulation of eye formation by the Rx and pax6 homeobox genes [Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review]","volume":"57","author":"Mathers","year":"2000","journal-title":"Cellular and Molecular Life Sciences"},{"key":"10.1016\/j.gene.2025.149699_b0060","doi-asserted-by":"crossref","unstructured":"Morgan, I. G., Ohno-Matsui, K., & Saw, S. M. (2012). Myopia [Journal Article; Research Support, Non-U.S. Gov't; Review]. Lancet, 379(9827), 1739-1748. DOI: 10.1016\/S0140-6736(12)60272-4.","DOI":"10.1016\/S0140-6736(12)60272-4"},{"key":"10.1016\/j.gene.2025.149699_b0065","doi-asserted-by":"crossref","unstructured":"Outchkourov, N. S., Muino, J. M., Kaufmann, K., van Ijcken, W. F., Groot, K. M., van Leenen, D., de Graaf, P., Holstege, F. C., Grosveld, F. G., & Timmers, H. T. (2013). Balancing of histone H3K4 methylation states by the Kdm5c\/SMCX histone demethylase modulates promoter and enhancer function [Journal Article; Research Support, Non-U.S. Gov't]. Cell Reports, 3(4), 1071-1079. DOI: 10.1016\/j.celrep.2013.02.030.","DOI":"10.1016\/j.celrep.2013.02.030"},{"issue":"3","key":"10.1016\/j.gene.2025.149699_b0070","first-page":"359","article-title":"VISION 2020-the right to sight: from strategies to action [Editorial]","volume":"128","author":"Pararajasegaram","year":"1999","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.gene.2025.149699_b0075","doi-asserted-by":"crossref","unstructured":"Reis, L. M., Atilla, H., Kannu, P., Schneider, A., Thompson, S., Bardakjian, T., & Semina, E. V. (2023). Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease [Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't]. Genes, 14(1) DOI: 10.3390\/genes14010216.","DOI":"10.3390\/genes14010216"},{"key":"10.1016\/j.gene.2025.149699_b0080","doi-asserted-by":"crossref","unstructured":"Schwahn, U., Lenzner, S., Dong, J., Feil, S., Hinzmann, B., van Duijnhoven, G., Kirschner, R., Hemberger, M., Bergen, A. A., Rosenberg, T., Pinckers, A. J., Fundele, R., Rosenthal, A., Cremers, F. P., Ropers, H. H., & Berger, W. (1998). Positional cloning of the gene for X-linked retinitis pigmentosa 2 [Journal Article; Research Support, Non-U.S. Gov't]. Nature Genetics, 19(4), 327-332. DOI: 10.1038\/1214.","DOI":"10.1038\/1214"},{"issue":"6","key":"10.1016\/j.gene.2025.149699_b0085","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1111\/opo.13366","article-title":"High myopia: Reviews of myopia control strategies and myopia complications [Journal Article; Review]","volume":"44","author":"Shah","year":"2024","journal-title":"Ophthalmic Physiol. Opt."},{"key":"10.1016\/j.gene.2025.149699_b0090","doi-asserted-by":"crossref","unstructured":"Wang, Y., Xiao, X., Li, X., Yi, Z., Jiang, Y., Zhang, F., Zhou, L., Li, S., Jia, X., Sun, W., Wang, P., & Zhang, Q. (2023). Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance [Journal Article; Research Support, Non-U.S. Gov't]. British Journal of Ophthalmology, 107(10), 1545-1553. DOI: 10.1136\/bjo-2022-321511.","DOI":"10.1136\/bjo-2022-321511"},{"issue":"6","key":"10.1016\/j.gene.2025.149699_b0095","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1097\/APO.0000000000000234","article-title":"Epidemiology of Pathologic Myopia in Asia and Worldwide [Journal Article; Review]","volume":"5","author":"Wong","year":"2016","journal-title":"Asia-Pacific Journal of Ophthalmology"},{"key":"10.1016\/j.gene.2025.149699_b0100","doi-asserted-by":"crossref","first-page":"5795","DOI":"10.2147\/IJGM.S326046","article-title":"Prevalence of Refractive Error and Visual Acuity among School Children in the Plateau Region of Qinghai, China [Journal Article]","volume":"14","author":"Wu","year":"2021","journal-title":"International Journal of General Medicine"},{"key":"10.1016\/j.gene.2025.149699_b0105","doi-asserted-by":"crossref","unstructured":"Zi, F., Li, Z., Cheng, W., Huang, X., Sheng, X., & Rong, W. (2023). Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families [Journal Article; Research Support, Non-U.S. Gov't]. Bmc Medical Genomics, 16(1), 223. DOI: 10.1186\/s12920-023-01665-x.","DOI":"10.1186\/s12920-023-01665-x"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111925004883?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111925004883?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T17:17:08Z","timestamp":1759857428000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111925004883"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":21,"alternative-id":["S0378111925004883"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2025.149699","relation":{},"ISSN":["0378-1119"],"issn-type":[{"type":"print","value":"0378-1119"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A potentially pathogenic KDM5C variant in X-linked high myopia","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2025.149699","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 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":"149699"}}