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Select item 116329001.

Exploring the Molecular Interaction Between NR2E3 and NR1D1 in Retinitis Pigmentosa: A Docking and Molecular Dynamics Study

Farzane Vafaeie, Mojtaba Mohammadpour, Shokoofeh Etesam, Shahnaz Zarifi, Abolfazl Yari, Malihe Nikandish, Hassan Hashemzadeh, Mohammad Reza Hajiabadi, Ebrahim Miri‐Moghaddam

J Clin Lab Anal. 2024 Dec; 38(23): e25125. Published online 2024 Nov 18. doi: 10.1002/jcla.25125

PMCID:: PMC11632900

Abstract Article PDF–3.8M

Select item 115397452.

PHARC syndrome: an overview

Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

Orphanet J Rare Dis. 2024; 19: 416. Published online 2024 Nov 5. doi: 10.1186/s13023-024-03418-0

Correction in:: Orphanet J Rare Dis. 2025; 20: 10.

PMCID:: PMC11539745

Abstract Article PDF–1.2M

Select item 112828033.

Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies

Xiaonan Liu, Anna Pacwa, Giorgia Bresciani, Marta Swierczynska, Mariola Dorecka, Adrian Smedowski

Mol Med. 2024; 30: 109. Published online 2024 Jul 26. doi: 10.1186/s10020-024-00875-y

PMCID:: PMC11282803

Abstract Article PDF–4.5M

Select item 112634084.

Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey

Katalin Pungor, Jennifer Lee, Tom Denee, Yerkebulan Kambarov, Riikka Nissinen, Kevin Ampeh, Marco Pellegrini, Francesco Parmeggiani

Adv Ther. 2024; 41(8): 3378–3395. Published online 2024 Jul 8. doi: 10.1007/s12325-024-02935-5

PMCID:: PMC11263408

Abstract Article PDF–1.2M

Select item 112549315.

Evaluating therapeutic potential of NR2E3 doses in the rd7 mouse model of retinal degeneration

Shannon M. McNamee, Monica Akula, Zoe Love, Neelaab Nasraty, Kaden Nystuen, Pushpendra Singh, Arun K. Upadhyay, Margaret M. DeAngelis, Neena B. Haider

Sci Rep. 2024; 14: 16490. Published online 2024 Jul 17. doi: 10.1038/s41598-024-67095-6

PMCID:: PMC11254931

Abstract Article PDF–6.7M

Select item 112032956.

Rajech Sharkia, Abdelnaser Zalan, Amit Kessel, Wasif Al-Shareef, Hazar Zahalka, Holger Hengel, Ludger Schöls, Abdussalam Azem, Muhammad Mahajnah

Genes (Basel) 2024 Jun; 15(6): 791. Published online 2024 Jun 16. doi: 10.3390/genes15060791

PMCID:: PMC11203295

Abstract Article PDF–5.4M

Select item 111396457.

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

Michalis Georgiou, Anthony G. Robson, Sami H. Uwaydat, Marco H. Ji, Ahmed F. Shakarchi, Nikolas Pontikos, Omar A. Mahroo, Michael E. Cheetham, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides

Am J Ophthalmol. 2024 May; 261: 112–120. doi: 10.1016/j.ajo.2023.11.005

PMCID:: PMC11139645

Abstract Article PDF–1.5M

Select item 110908158.

Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model Rho^P23H+/⁻

Shannon M. McNamee, Natalie P. Chan, Monica Akula, Marielle O. Avola, Maiya Whalen, Kaden Nystuen, Pushpendra Singh, Arun K. Upadhyay, Margaret M. DeAngelis, Neena B. Haider

Gene Ther. 2024; 31(5-6): 255–262. Published online 2024 Jan 26. doi: 10.1038/s41434-024-00440-6

PMCID:: PMC11090815

Abstract Article PDF–1.9M

Select item 110452209.

Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation

Sangeetha Kandoi, Cassandra Martinez, Kevin Xu Chen, Miika Mehine, L Vinod K Reddy, Brian C Mansfield, Jacque L Duncan, Deepak A Lamba

eLife. 2024; 12: RP90575. Published online 2024 Apr 25. doi: 10.7554/eLife.90575

PMCID:: PMC11045220

Abstract Article PDF–13M

Select item 1094576110.

Germline knockout of Nr2e3 protects photoreceptors in three distinct mouse models of retinal degeneration

Alexander V. Kolesnikov, Daniel P. Murphy, Joseph C. Corbo, Vladimir J. Kefalov

Proc Natl Acad Sci U S A. 2024 Mar 12; 121(11): e2316118121. Published online 2024 Mar 5. doi: 10.1073/pnas.2316118121

PMCID:: PMC10945761

Abstract Article PDF–1.7M

Select item 1093725911.

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management

Malena Daich Varela, Giovanni Marco Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Viet Tran, Michel Michaelides

Ophthalmology. 2023 Dec; 130(12): 1327–1335. doi: 10.1016/j.ophtha.2023.07.027

PMCID:: PMC10937259

Abstract Article PDF–1.4M

Select item 1063047912.

Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes

Junwei Zhong, Yue Xie, Hanwen Ye, Chunjie Chen, Tengyang Sun, Ke Xu, Xiaohui Zhang, Yang Li

Eye (Lond) 2023 Nov; 37(16): 3398–3405. Published online 2023 Apr 8. doi: 10.1038/s41433-023-02516-w

PMCID:: PMC10630479

Abstract Article PDF–2.5M

Select item 1046921713.

Investigating the associations of macular edema in retinitis pigmentosa

Juan D. Arias, Fritz Gerald P. Kalaw, Varsha Alex, Shaden H. Yassin, Henry Ferreyra, Evan Walker, Naomi E. Wagner, Shyamanga Borooah

Sci Rep. 2023; 13: 14187. Published online 2023 Aug 30. doi: 10.1038/s41598-023-41464-z

PMCID:: PMC10469217

Abstract Article PDF–1.1M

Select item 1045405514.

Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review

Sainan Xiao, Zhen Yi, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Ping Lian, Wenmin Sun, Panfeng Wang, Lin Lu, Qingjiong Zhang

Genes (Basel) 2023 Aug; 14(8): 1525. Published online 2023 Jul 26. doi: 10.3390/genes14081525

PMCID:: PMC10454055

Abstract Article PDF–4.1M

Select item 1045043715.

Transcriptomic analysis of the ocular posterior segment completes a cell atlas of the human eye

Aboozar Monavarfeshani, Wenjun Yan, Christian Pappas, Kenechukwu A. Odenigbo, Zhigang He, Ayellet V. Segrè, Tavé van Zyl, Gregory S. Hageman, Joshua R. Sanes

Proc Natl Acad Sci U S A. 2023 Aug 22; 120(34): e2306153120. Published online 2023 Aug 11. doi: 10.1073/pnas.2306153120

PMCID:: PMC10450437

Abstract Article PDF–21M

Select item 1043121116.

Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa

Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stingl

Invest Ophthalmol Vis Sci. 2023 Aug; 64(11): 18. Published online 2023 Aug 14. doi: 10.1167/iovs.64.11.18

PMCID:: PMC10431211

Abstract Article PDF–1.7M

Select item 1042789917.

Clinical and Genetic Findings in Korean Patients with Choroideremia

Woo Gyeong Jo, Christopher Seungkyu Lee, Jinu Han

Korean J Ophthalmol. 2023 Aug; 37(4): 285–291. Published online 2023 Jun 19. doi: 10.3341/kjo.2023.0020

PMCID:: PMC10427899

Abstract Article PDF–8.5M

Select item 1037913318.

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease

Maria Toms, Natasha Ward, Mariya Moosajee

Genes (Basel) 2023 Jul; 14(7): 1325. Published online 2023 Jun 23. doi: 10.3390/genes14071325

PMCID:: PMC10379133

Abstract Article PDF–4.4M

Select item 1015117419.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee

Jinu Han, Kwangsic Joo, Ungsoo Samuel Kim, Se Joon Woo, Eun Kyoung Lee, Joo Yong Lee, Tae Kwann Park, Sang Jin Kim, Suk Ho Byeon, on behalf of the Korea RPE65-IRD Consensus Paper Committee

Korean J Ophthalmol. 2023 Apr; 37(2): 166–186. Published online 2023 Mar 23. doi: 10.3341/kjo.2023.0008

PMCID:: PMC10151174

Abstract Article PDF–3.3M

Select item 1013746720.

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier, João Pedro Marques

Genes (Basel) 2023 Apr; 14(4): 830. Published online 2023 Mar 30. doi: 10.3390/genes14040830