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Select item 49597781.

Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response

Nicolas Tremblay, Martin Baril, Laurent Chatel-Chaix, Salwa Es-Saad, Alex Young Park, Robert K. Koenekoop, Daniel Lamarre

PLoS Pathog. 2016 Jul; 12(7): e1005772. Published online 2016 Jul 25. doi: 10.1371/journal.ppat.1005772

Correction in:: PLoS Pathog. 2017 Jan; 13(1): e1006174.

PMCID:: PMC4959778

Abstract Article PDF–11M

Select item 27758252.

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

Chen Zhao, Deepti L. Bellur, Shasha Lu, Feng Zhao, Michael A. Grassi, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, Li Jia Chen, Chi Pui Pang, Kanxing Zhao, Jonathan P. Staley, Catharina Larsson

Am J Hum Genet. 2009 Nov 13; 85(5): 617–627. doi: 10.1016/j.ajhg.2009.09.020

PMCID:: PMC2775825

Abstract Article PDF–739K

Select item 109372593.

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 108816394.

Screening copy number variations in 35 unsolved inherited retinal disease families

Xiaozhen Liu, Hehua Dai, Genlin Li, Ruixuan Jia, Xiang Meng, Shicheng Yu, Liping Yang, Jing Hong

Hum Genet. 2024; 143(2): 197–210. Published online 2024 Jan 29. doi: 10.1007/s00439-023-02631-4

PMCID:: PMC10881639

Abstract Article PDF–9.3M

Select item 108774595.

Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations

Brittany N Williams, Adam Draper, Patrick F Lang, Tylor R Lewis, Audrey L Smith, Steven J Mayerl, Marie Rougié, Jeremy M Simon, Vadim Y Arshavsky, Scott H Greenwald, David M Gamm, Isabel Pinilla, Benjamin D Philpot

Hum Mol Genet. 2024 Mar 1; 33(5): 448–464. Published online 2023 Nov 17. doi: 10.1093/hmg/ddad199

Correction in:: Hum Mol Genet. 2024 Mar 1; 33(5): 475–476.

PMCID:: PMC10877459

Abstract Article PDF–3.6M

Select item 108645226.

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34

Masahiro Nishide, Kathleen Le Marquand, Mark R. Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Peter K. Panegyres, Kishore R. Kumar

Cerebellum. 2024; 23(1): 268–277. Published online 2023 Jan 25. doi: 10.1007/s12311-023-01522-8

PMCID:: PMC10864522

Abstract Article PDF–1.2M

Select item 103567087.

Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures

Christine Kay, Isabelle Audo, Christel Naujoks, Claudio Spera, M. Dominik Fischer, Jane Green, Todd Durham, Nicola Williamson, Helena Bradley, Melissa Barclay, Joel Sims, Judit Banhazi, Francesco Patalano

J Patient Rep Outcomes. 2023 Dec; 7: 74. Published online 2023 Jul 19. doi: 10.1186/s41687-023-00610-x

PMCID:: PMC10356708

Abstract Article PDF–1.9M

Select item 103416628.

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

Richard Sather, III, Jacie Ihinger, Michael Simmons, Tahsin Khundkar, Glenn P. Lobo, Sandra R. Montezuma

Int J Mol Sci. 2023 Jul; 24(13): 10895. Published online 2023 Jun 30. doi: 10.3390/ijms241310895

PMCID:: PMC10341662

Abstract Article PDF–2.6M

Select item 102436769.

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

Tamar Ben Yosef, Eyal Banin, Elana Chervinsky, Stavit A. Shalev, Rina Leibu, Eedy Mezer, Ygal Rotenstreich, Nitza Goldenberg-Cohen, Shirel Weiss, Muhammad Imran Khan, Daan M. Panneman, Rebekkah J. Hitti-Malin, Chen Weiner, Susanne Roosing, Frans P. M. Cremers, Eran Pras, Dinah Zur, Hadas Newman, Iris Deitch, Dror Sharon, Miriam Ehrenberg

Mol Vis. 2023; 29: 1–12. Published online 2023 Apr 22.

PMCID:: PMC10243676

Abstract Article PDF–2.7M

Select item 1013317510.

Cones And Cone Pathways Remain Functional in Advanced Retinal Degeneration

Erika M. Ellis, Antonio E. Paniagua, Miranda L. Scalabrino, Mishek Thapa, Jay Rathinavelu, Yuekan Jiao, David S. Williams, Greg D. Field, Gordon L. Fain, Alapakkam P. Sampath

Curr Biol. Author manuscript; available in PMC 2024 Apr 24.

Published in final edited form as: Curr Biol. 2023 Apr 24; 33(8): 1513–1522.e4. Published online 2023 Mar 27. doi: 10.1016/j.cub.2023.03.007

PMCID:: PMC10133175

Abstract Article PDF–2.3M

Select item 1009521111.

New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review

Yingwei Wang, Junwen Wang, Yi Jiang, Di Zhu, Jiamin Ouyang, Zhen Yi, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Int J Mol Sci. 2023 Apr; 24(7): 6728. Published online 2023 Apr 4. doi: 10.3390/ijms24076728

PMCID:: PMC10095211

Abstract Article PDF–2.1M

Select item 982107912.

Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A

Tjaša Krašovec, Nina Kobal, Maja Šuštar Habjan, Marija Volk, Marko Hawlina, Ana Fakin

Int J Mol Sci. 2023 Jan; 24(1): 780. Published online 2023 Jan 2. doi: 10.3390/ijms24010780

PMCID:: PMC9821079

Abstract Article PDF–3.9M

Select item 965160113.

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3

Meng Du, Yang Li, Panpan Zheng, Liang Zhong, Weili Zhao, Yuxin Zhang, Haiyan Gu, Xue Li, Zanchao Liu

Mol Genet Genomic Med. 2022 Nov; 10(11): e2060. Published online 2022 Sep 27. doi: 10.1002/mgg3.2060

PMCID:: PMC9651601

Abstract Article PDF–2.5M

Select item 963496614.

CEP19–RABL2–IFT-B axis controls BBSome-mediated ciliary GPCR export

Zhuang Zhou, Yohei Katoh, Kazuhisa Nakayama

Mol Biol Cell. 2022 Nov 1; 33(13): ar126. Published online 2022 Nov 1. doi: 10.1091/mbc.E22-05-0161

PMCID:: PMC9634966

Abstract Article PDF–6.7M

Select item 940780215.

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen K. Jolly, Robert E. MacLaren, Penny Clouston, Stephanie Halford, Susan M. Downes

Genes (Basel) 2022 Aug; 13(8): 1423. Published online 2022 Aug 10. doi: 10.3390/genes13081423

PMCID:: PMC9407802

Abstract Article PDF–2.7M

Select item 934737716.

A Modified Arrestin1 Increases Lactate Production in the Retina and Slows Retinal Degeneration

Tiffany S. Nelson, Chiab Simpson, Frank Dyka, Astra Dinculescu, W. Clay Smith

Hum Gene Ther. July 2022; 33(13-14): 695–707. Published online 2022 Jul 13. doi: 10.1089/hum.2021.272

PMCID:: PMC9347377

Abstract Article PDF–1.1M

Select item 924560117.

The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis

Daniel J. Jackson, Adam M. Dubis, Mariya Moosajee

Int J Mol Sci. 2022 Jun; 23(12): 6785. Published online 2022 Jun 17. doi: 10.3390/ijms23126785

PMCID:: PMC9245601

Abstract Article PDF–1.1M

Select item 900709418.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Abstract Article PDF–1.3M

Select item 895326919.

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

Amanda Petrelli Cicerone, Wendy Dailey, Michael Sun, Andrew Santos, Daeun Jeong, Lance Jones, Konstaninos Koustas, Mary Drekh, Keaton Schmitz, Naomi Haque, Jennifer A. Felisky, Alvaro E. Guzman, Kendra Mellert, Michael T. Trese, Antonio Capone, Kimberly A. Drenser, Kenneth P. Mitton

Genes (Basel) 2022 Mar; 13(3): 495. Published online 2022 Mar 11. doi: 10.3390/genes13030495

PMCID:: PMC8953269

Abstract Article PDF–1.0M

Select item 882236620.

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

Francesco Testa, Vittoria Murro, Sabrina Signorini, Leonardo Colombo, Giancarlo Iarossi, Francesco Parmeggiani, Benedetto Falsini, Anna Paola Salvetti, Raffaella Brunetti-Pierri, Giorgia Aprile, Chiara Bertone, Agnese Suppiej, Francesco Romano, Marianthi Karali, Simone Donati, Paolo Melillo, Andrea Sodi, Luciano Quaranta, Luca Rossetti, Luca Buzzonetti, Marzio Chizzolini, Stanislao Rizzo, Giovanni Staurenghi, Sandro Banfi, Claudio Azzolini, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2022 Feb; 63(2): 13. Published online 2022 Feb 7. doi: 10.1167/iovs.63.2.13

PMCID:: PMC8822366

Abstract Article PDF–2.2M

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