{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T13:58:45Z","timestamp":1778594325822,"version":"3.51.4"},"reference-count":57,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2024,7,27]],"date-time":"2024-07-27T00:00:00Z","timestamp":1722038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","award":["HI21C0317"],"award-info":[{"award-number":["HI21C0317"]}],"id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","award":["HI22C0733"],"award-info":[{"award-number":["HI22C0733"]}],"id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","award":["RS-2023-00209639"],"award-info":[{"award-number":["RS-2023-00209639"]}],"id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["HI21C0317"],"award-info":[{"award-number":["HI21C0317"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["HI22C0733"],"award-info":[{"award-number":["HI22C0733"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["RS-2023-00209639"],"award-info":[{"award-number":["RS-2023-00209639"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Soonchunhyang University","award":["HI21C0317"],"award-info":[{"award-number":["HI21C0317"]}]},{"name":"Soonchunhyang University","award":["HI22C0733"],"award-info":[{"award-number":["HI22C0733"]}]},{"name":"Soonchunhyang University","award":["RS-2023-00209639"],"award-info":[{"award-number":["RS-2023-00209639"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>X-linked juvenile retinoschisis (XLRS) is a hereditary retinal degeneration affecting young males caused by mutations in the retinoschisin (RS1) gene. We generated human induced pluripotent stem cells (hiPSCs) from XLRS patients and established three-dimensional retinal organoids (ROs) for disease investigation. This disease model recapitulates the characteristics of XLRS, exhibiting defects in RS1 protein production and photoreceptor cell development. XLRS ROs also revealed dysregulation of Na\/K-ATPase due to RS1 deficiency and increased ERK signaling pathway activity. Transcriptomic analyses of XLRS ROs showed decreased expression of retinal cells, particularly photoreceptor cells. Furthermore, relevant recovery of the XLRS phenotype was observed when co-cultured with control ROs derived from healthy subject during the early stages of differentiation. In conclusion, our in vitro XLRS RO model presents a valuable tool for elucidating the pathophysiological mechanisms underlying XLRS, offering insights into disease progression. Additionally, this model serves as a robust platform for the development and optimization of targeted therapeutic strategies, potentially improving treatment outcomes for patients with XLRS.<\/jats:p>","DOI":"10.3390\/ijms25158203","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T09:37:25Z","timestamp":1722332245000},"page":"8203","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Early Developmental Characteristics and Features of a Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis"],"prefix":"10.3390","volume":"25","author":[{"given":"Jung Woo","family":"Han","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170, Jomaru-ro, Bucheon 14584, Republic of Korea"},{"name":"Department of Ophthalmology, Soonchunhyang University College of Medicine, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4025-4182","authenticated-orcid":false,"given":"Hun Soo","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Soonchunhyang University College of Medicine, Cheonan 31151, Republic of Korea"},{"name":"Department of Interdisciplinary Program in Biomedical Science, Soonchunhyang Graduate School, Soonchunhyang University Bucheon Hospital, Bucheon 14584, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Chul","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170, Jomaru-ro, Bucheon 14584, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin Young","family":"Yang","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Therapy for Retinal Degeneration, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon 14584, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye Ji","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Interdisciplinary Program in Biomedical Science, Soonchunhyang Graduate School, Soonchunhyang University Bucheon Hospital, Bucheon 14584, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin Ha","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170, Jomaru-ro, Bucheon 14584, Republic of Korea"},{"name":"Department of Ophthalmology, Soonchunhyang University College of Medicine, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyo Song","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170, Jomaru-ro, Bucheon 14584, Republic of Korea"},{"name":"Department of Ophthalmology, Soonchunhyang University College of Medicine, Cheonan 31151, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han","family":"Jeong","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Severance Eye Hospital, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"},{"name":"Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul 03722, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0543-7132","authenticated-orcid":false,"given":"Junwon","family":"Lee","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4637-8044","authenticated-orcid":false,"given":"Chang Ki","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1795-202X","authenticated-orcid":false,"given":"Hyung Gon","family":"Yu","sequence":"additional","affiliation":[{"name":"Retina Center, The Sky Eye Institute, Seoul 06536, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3692-7169","authenticated-orcid":false,"given":"Se Joon","family":"Woo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam 13620, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4863-5736","authenticated-orcid":false,"given":"Jungmook","family":"Lyu","sequence":"additional","affiliation":[{"name":"Department of Medical Science, Konyang University, Daejun 32992, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9689-4384","authenticated-orcid":false,"given":"Tae Kwann","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, 170, Jomaru-ro, Bucheon 14584, Republic of Korea"},{"name":"Department of Ophthalmology, Soonchunhyang University College of Medicine, Cheonan 31151, Republic of Korea"},{"name":"Department of Interdisciplinary Program in Biomedical Science, Soonchunhyang Graduate School, Soonchunhyang University Bucheon Hospital, Bucheon 14584, Republic of Korea"},{"name":"Laboratory of Molecular Therapy for Retinal Degeneration, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon 14584, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1001\/archopht.1996.01100130270007","article-title":"Clinical features in affected males with X-linked retinoschisis","volume":"114","author":"George","year":"1996","journal-title":"Arch. 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