Functionally deficient UBOX5 variants and primary angle-closure glaucoma.
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| Title: | Functionally deficient UBOX5 variants and primary angle-closure glaucoma. |
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| Authors: | Li Z; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore., Chng WL; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.; Duke-NUS Medical School, National University of, Singapore, Singapore., Liu Z; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore.; Duke-NUS Medical School, National University of, Singapore, Singapore., Do T; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Nakano M; Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan., Chen LJ; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China., Loo Y; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Chan ASY; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Topouzis F; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Nongpiur ME; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Ozaki M; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; Ozaki Eye Hospital, Hyuga, and Department of Ophthalmology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Nakano S; Department of Ophthalmology, Oita University Faculty of Medicine, Yufu, Japan., Kubota T; Department of Ophthalmology, Oita University Faculty of Medicine, Yufu, Japan., Perera SA; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Husain R; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Wong TTL; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Cheng CY; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Ho CL; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Abu-Amero K; Department of Research, King Khaled Eye Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Wong HT; Dept of Ophthalmology, Tan Tock Seng Hospital, NHG Eye Institute, Singapore, Singapore., Melo MB; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., Hien NDTN; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Van Trinh N; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Huong NTT; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Azhany Y; Department of Ophthalmology and Visual Science, School of Medical Sciences, Health campus, Universiti Sains Malaysia and Hospital Pakar Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia., Perez-Grossmann R; Instituto de Glaucoma y Catarata, Lima, Perú., Chan PP; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China., Stuart KV; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK., Biradar MI; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK., Szabo A; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK., Anastasopoulos E; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Giannoulis DA; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Ntonti P; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Papakonstantinou E; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Lambropoulos A; Laboratory of Medical Biology - Genetics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., Chatzikyriakidou A; Laboratory of Medical Biology - Genetics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece., Kilintzis V; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Ayub H; Department of Biological and Health Sciences, Pak-Austria Fachhochschule: Institute of Applied Sciences and Technology, Mang, Haripur, KPK, Pakistan., Micheal S; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Aung YY; Mandalay Eye department, Mandalay Eye ENT hospital, University of Medicine Mandalay, Mandalay, Myanmar., Leuenberger EU; Asian Eye Institute, Manila, Philippines.; University of the East Ramon Magsaysay College of Medicine, Manila, Philippines., Fea A; Dipartimento di Scienze Chirurgiche - Universita' di Torino, Turin, Italy., Mon NN; Duke-NUS Medical School, National University of, Singapore, Singapore., Anajao A; Bioprocessing Technology Institute (BTI), Agency for Science, Technology and Research (A*STAR), 20 Biopolis Way, #06-01 Centros, Singapore, Singapore., Bi X; Duke-NUS Medical School, National University of, Singapore, Singapore.; Bioprocessing Technology Institute (BTI), Agency for Science, Technology and Research (A*STAR), 20 Biopolis Way, #06-01 Centros, Singapore, Singapore., Kok YJ; Bioprocessing Technology Institute (BTI), Agency for Science, Technology and Research (A*STAR), 20 Biopolis Way, #06-01 Centros, Singapore, Singapore., Chong RS; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Boey PY; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Tan DZJ; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore., Sin WWL; Duke-NUS Medical School, National University of, Singapore, Singapore., Chowbay B; National Cancer Centre of, Singapore, Singapore., Khaing CC; Department of Ophthalmology, No(1) Defence Services General Hospital, Yangon, Myanmar., Aung YM; Myanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar.; University Hospitals Coventry and Warwickshire Trust, Coventry, United Kingdom., Reyes RD; Department of Ophthalmology/Glaucoma Section, Asian Hospital & Medical Center, Muntinlupa City, Philippines., Panagiotou ES; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Mikropoulos DG; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Voudouragkaki IC; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Panos GD; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.; Division of Ophthalmology and Visual Sciences, School of Medicine, University of Nottingham, Nottingham, UK., Xie Z; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore., Chen XY; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore., Lim YT; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore., Meah WY; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore., Lee YS; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Ho CEH; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Yeo PMX; Duke-NUS Medical School, National University of, Singapore, Singapore., Ikeda Y; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Tokuda Y; Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan., Tanaka M; Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan., Omi N; Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan., Ueno M; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., de Vasconcellos JPC; Departamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Costa VP; Departamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Abe RY; Departamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., de Souza BB; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., Fong GB; Instituto de Ciencias Medicas, Lima, Perú., Castro VV; Hospital Nacional Arzobispo Loayza, Lima, Perú., Fujita R; Centro de Genetica y Biologia Molecular, Universidad de San Martin de Porres, Lima, Perú., Guevara-Fujita ML; Centro de Genetica y Biologia Molecular, Universidad de San Martin de Porres, Lima, Perú., Akhtar F; Department of Glaucoma, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan., Ali M; Department of Glaucoma, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan., Catacutan MAT; Asian Eye Institute, Manila, Philippines., Felarca IR; Asian Eye Institute, Manila, Philippines., Liao CS; Asian Eye Institute, Manila, Philippines., Lavia C; Dipartimento di Scienze Chirurgiche - Universita' di Torino, Turin, Italy., Than HM; Department of Ophthalmology, North Okkalarpa General Hospital, Yangon, Myanmar., Oo KT; Myanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar., Soe-Kyaw PP; Myanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar., Frezzotti P; Surgery Department, Section of Ophthalmology, University of Siena, Siena, Italy., Pasutto F; Humangenetisches Institut, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Kussmaulallee 4, 91054, Erlangen, Germany., Quino R; Department of Ophthalmology/Glaucoma Section, Asian Hospital & Medical Center, Muntinlupa City, Philippines.; University of the Philippines- College of Medicine, Manila, Philippines., Minn-Din Z; Myanmar Eye Centre, Grand Hantha International Hospital, Yangon, Myanmar., Oo NL; Department of Ophthalmology, No(1) Defence Services General Hospital, Yangon, Myanmar., Dallorto L; Dipartimento di Scienze Chirurgiche - Universita' di Torino, Turin, Italy., Set SH; Mandalay Eye department, Mandalay Eye ENT hospital, University of Medicine Mandalay, Mandalay, Myanmar., Doan VH; Hue University of Medicine and Pharmacy, Danang City, Vietnam., Qamar R; Science and Environment Sector, ICESCO, Rabat, Morocco.; Pakistan Academy of Sciences, Islamabad, Pakistan., Neto JM; Departamento de Oftalmologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Al-Obeidan S; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Tham CC; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China., Mori K; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Sotozono C; Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Kinoshita S; Department of Frontier Medical Science and Technology for Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan., Konstas AG; 1st Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Liza-Sharmini AT; Department of Ophthalmology and Visual Science, School of Medical Sciences, Health campus, Universiti Sains Malaysia and Hospital Pakar Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia., Zenteno JC; Rare Disease Diagnostic Unit/Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico.; Genetics Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico., Do NH; Vietnam National Institute of Ophthalmology, Hanoi, Vietnam., Foster PJ; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK., Tashiro K; Department of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan., Pang CP; Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China., Khawaja AP; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, UK., Aung T; Duke-NUS Medical School, National University of, Singapore, Singapore.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore., Wang Z; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore. zhenxun.wang@duke-nus.edu.sg.; Duke-NUS Medical School, National University of, Singapore, Singapore. zhenxun.wang@duke-nus.edu.sg.; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore. zhenxun.wang@duke-nus.edu.sg., Khor CC; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, Genome #02-01, Singapore, 138672, Republic of Singapore. khorcc@a-star.edu.sg. |
| Source: | Nature communications [Nat Commun] 2025 Aug 15; Vol. 16 (1), pp. 7620. Date of Electronic Publication: 2025 Aug 15. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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