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Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
Valdés-Sánchez L, Calado SM, de la Cerda B, Aramburu A, García-Delgado AB, Massalini S, Montero-Sánchez A, Bhatia V, Rodríguez-Bocanegra E, Diez-Lloret A, Rodríguez-Martínez D, Chakarova C, Bhattacharya SS, Díaz-Corrales FJ. Valdés-Sánchez L, et al. Mol Med. 2019 Dec 31;26(1):1. doi: 10.1186/s10020-019-0124-z. Mol Med. 2019. PMID: 31892304 Free PMC article.
Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene.
de la Cerda B, Díez-Lloret A, Ponte B, Vallés-Saiz L, Calado SM, Rodríguez-Bocanegra E, Garcia-Delgado AB, Moya-Molina M, Bhattacharya SS, Díaz-Corrales FJ. de la Cerda B, et al. Stem Cell Res. 2019 Apr;36:101426. doi: 10.1016/j.scr.2019.101426. Epub 2019 Mar 20. Stem Cell Res. 2019. PMID: 30921587 Free article.
Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future.
Colijn JM, Buitendijk GHS, Prokofyeva E, Alves D, Cachulo ML, Khawaja AP, Cougnard-Gregoire A, Merle BMJ, Korb C, Erke MG, Bron A, Anastasopoulos E, Meester-Smoor MA, Segato T, Piermarocchi S, de Jong PTVM, Vingerling JR, Topouzis F, Creuzot-Garcher C, Bertelsen G, Pfeiffer N, Fletcher AE, Foster PJ, Silva R, Korobelnik JF, Delcourt C, Klaver CCW; EYE-RISK consortium; European Eye Epidemiology (E3) consortium. Colijn JM, et al. Ophthalmology. 2017 Dec;124(12):1753-1763. doi: 10.1016/j.ophtha.2017.05.035. Epub 2017 Jul 14. Ophthalmology. 2017. PMID: 28712657 Free PMC article.
Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration: The EYE-RISK Consortium.
Acar İE, Lores-Motta L, Colijn JM, Meester-Smoor MA, Verzijden T, Cougnard-Gregoire A, Ajana S, Merle BMJ, de Breuk A, Heesterbeek TJ, van den Akker E, Daha MR, Claes B, Pauleikhoff D, Hense HW, van Duijn CM, Fauser S, Hoyng CB, Delcourt C, Klaver CCW, Galesloot TE, den Hollander AI; EYE-RISK Consortium. Acar İE, et al. Ophthalmology. 2020 Dec;127(12):1693-1709. doi: 10.1016/j.ophtha.2020.06.020. Epub 2020 Jun 14. Ophthalmology. 2020. PMID: 32553749 Free article.
Predicting Progression to Advanced Age-Related Macular Degeneration from Clinical, Genetic, and Lifestyle Factors Using Machine Learning.
Ajana S, Cougnard-Grégoire A, Colijn JM, Merle BMJ, Verzijden T, de Jong PTVM, Hofman A, Vingerling JR, Hejblum BP, Korobelnik JF, Meester-Smoor MA, Ueffing M, Jacqmin-Gadda H, Klaver CCW, Delcourt C; EYE-RISK Consortium. Ajana S, et al. Ophthalmology. 2021 Apr;128(4):587-597. doi: 10.1016/j.ophtha.2020.08.031. Epub 2020 Sep 2. Ophthalmology. 2021. PMID: 32890546
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