PMC Articles for MedGen (Select 383742) - PMC

Michalis Georgiou, Anthony G. Robson, Katarina Jovanovic, Thales A. C. de Guimarães, Naser Ali, Nikolas Pontikos, Sami H. Uwaydat, Omar A. Mahroo, Michael E. Cheetham, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides

Ophthalmology. 2023 Apr; 130(4): 413–422. doi: 10.1016/j.ophtha.2022.11.015

PMCID:: PMC10567581

Abstract Article PDF–1.9M

Select item 102944444.

Systemic Reduction of Glut1 Normalizes Retinal Dysfunction, Inflammation, and Oxidative Stress in the Retina of Spontaneous Type 2 Diabetic Mice

Jacob J. Aiello, Maislin C. Bogart, Wai-Ting Chan, Nicholas C. Holoman, Timothy D. Trobenter, Chloe E. Relf, Dana M. Kleinman, Darryl C. De Vivo, Ivy S. Samuels

Am J Pathol. 2023 Jul; 193(7): 927–938. doi: 10.1016/j.ajpath.2023.04.003

PMCID:: PMC10294444

Abstract Article PDF–2.9M

Select item 102332105.

Ablation of pigment epithelium-derived factor receptor (PEDF-R/Pnpla2) causes photoreceptor degeneration

Alexandra Bernardo-Colón, Lijin Dong, Mones Abu-Asab, Richard S. Brush, Martin-Paul Agbaga, S. Patricia Becerra

J Lipid Res. 2023 May; 64(5): 100358. Published online 2023 Mar 17. doi: 10.1016/j.jlr.2023.100358

PMCID:: PMC10233210

Abstract Article PDF–3.4M

Select item 100163856.

Pseudodominant Inheritance of Retinitis Pigmentosa Due to Mutations in the Phosphodiesterase 6B Gene: A Case Report

Andrea Robles Bocanegra, Javier Tato, Leonardo J Molina Thurin, Natalio Izquierdo, Armando L Oliver

Cureus. 2023 Feb; 15(2): e34933. Published online 2023 Feb 13. doi: 10.7759/cureus.34933

PMCID:: PMC10016385

Abstract Article PDF–183K

Select item 99121647.

Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations

Lenore von Krusenstiern, Jiajun Liu, Eileen Liao, James A. Gow, Guo Chen, Tuyen Ong, Andrew J. Lotery, Assad Jalil, Byron L. Lam, Robert E. MacLaren

JAMA Ophthalmol. 2023 Mar; 141(3): 275–283. Published online 2023 Feb 9. doi: 10.1001/jamaophthalmol.2022.6254

Correction in:: JAMA Ophthalmol. 2023 Mar; 141(3): 293.

PMCID:: PMC9912164

Abstract Article

Select item 98396388.

Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis

Grace Robinson Kick, Rebecca E.H. Whiting, Juri Ota-Kuroki, Leilani J. Castaner, Brandie Morgan-Jack, Julianna C. Sabol, Elizabeth J. Meiman, Francheska Ortiz, Martin L. Katz

Exp Eye Res. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Exp Eye Res. 2023 Jan; 226: 109344. Published online 2022 Dec 9. doi: 10.1016/j.exer.2022.109344

PMCID:: PMC9839638

Abstract Article PDF–4.3M

Select item 94823269.

UBE3D Is Involved in Blue Light-Induced Retinal Damage by Regulating Double-Strand Break Repair

Ningda Xu, Yue Liu, Shanshan Nai, Yong Tao, Yuehe Ding, Lemei Jia, Qizhi Geng, Jie Li, Yujing Bai, Gong-Hong Wei, Meng-Qiu Dong, Linyi Luo, Mingwei Zhao, Xingzhi Xu, Xiao-Xin Li, Jing Li, Lvzhen Huang

Invest Ophthalmol Vis Sci. 2022 Sep; 63(10): 7. Published online 2022 Sep 12. doi: 10.1167/iovs.63.10.7

PMCID:: PMC9482326

Abstract Article PDF–2.3M

Select item 940833610.

A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype

Pooja Biswas, Anne Marie Berry, Qais Zawaydeh, Dirk-Uwe G. Bartsch, Pongali B. Raghavendra, J. Fielding Hejtmancik, Naheed W. Khan, S. Amer Riazuddin, Radha Ayyagari

Genes (Basel) 2022 Aug; 13(8): 1461. Published online 2022 Aug 17. doi: 10.3390/genes13081461

PMCID:: PMC9408336

Abstract Article PDF–2.4M

Select item 922682711.

Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa

Jay Jiyong Kwak, Hae Rang Kim, Suk Ho Byeon

Yonsei Med J. 2022 Jul; 63(7): 701–705. Published online 2022 Jun 14. doi: 10.3349/ymj.2022.63.7.701

PMCID:: PMC9226827

Abstract Article PDF–2.7M

Select item 917380012.

Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia

Xiaofan Jiang, Zihe Xu, Talha Soorma, Ambreen Tariq, Taha Bhatti, Alexander J. Baneke, Nikolas Pontikos, Shaun M. Leo, Andrew R. Webster, Katie M. Williams, Christopher J. Hammond, Pirro G. Hysi, Omar A. Mahroo

Proc Natl Acad Sci U S A. 2022 May 24; 119(21): e2119675119. Published online 2022 May 20. doi: 10.1073/pnas.2119675119

PMCID:: PMC9173800

Abstract Article PDF–1.4M

Select item 905555313.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel, Isabelle Audo

Invest Ophthalmol Vis Sci. 2022 Apr; 63(4): 25. Published online 2022 Apr 28. doi: 10.1167/iovs.63.4.25

PMCID:: PMC9055553

Abstract Article PDF–9.1M

Select item 897643414.

Differential impact of Kv8.2 loss on rod and cone signaling and degeneration

Shivangi M Inamdar, Colten K Lankford, Deepak Poria, Joseph G Laird, Eduardo Solessio, Vladimir J Kefalov, Sheila A Baker

Hum Mol Genet. 2022 Apr 1; 31(7): 1035–1050. Published online 2021 Oct 15. doi: 10.1093/hmg/ddab301

PMCID:: PMC8976434

Abstract Article PDF–2.1M

Select item 887500815.

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

Gayle B. Collin, Lanying Shi, Minzhong Yu, Nurten Akturk, Jeremy R. Charette, Lillian F. Hyde, Sonia M. Weatherly, Martin F. Pera, Jürgen K. Naggert, Neal S. Peachey, Patsy M. Nishina, Mark P. Krebs

Int J Mol Sci. 2022 Feb; 23(4): 2220. Published online 2022 Feb 17. doi: 10.3390/ijms23042220

PMCID:: PMC8875008

Abstract Article PDF–5.0M

Select item 882236616.

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

Select item 874389717.

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model

Tomas S. Aleman, Erin C. O’Neil, Keli O’Connor, Yu You Jiang, Isabella A. Aleman, Jean Bennett, Jessica I. W. Morgan, Brian W. Toussaint

Ophthalmic Genet. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2021 Jun; 42(3): 252–265. Published online 2021 Mar 17. doi: 10.1080/13816810.2021.1888132

PMCID:: PMC8743897

Abstract Article PDF–4.3M

Select item 860941818.

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

Barbara Oliveira‐Mendes, Sylvain Feliciangeli, Mélissa Ménard, Frank Chatelain, Malak Alameh, Jérôme Montnach, Sébastien Nicolas, Béatrice Ollivier, Julien Barc, Isabelle Baró, Jean‐Jacques Schott, Vincent Probst, Florence Kyndt, Isabelle Denjoy, Florian Lesage, Gildas Loussouarn, Michel De Waard

Clin Transl Med. 2021 Nov; 11(11): e609. Published online 2021 Nov 23. doi: 10.1002/ctm2.609

PMCID:: PMC8609418

Abstract Article PDF–3.1M

Select item 846901119.

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes

Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T. Maynes, Erika Tavares, Asim Ali, Stacy Hewson, Andreas Schulze, Peter Kannu, Kirill A. Martemyanov, Ajoy Vincent

Genes (Basel) 2021 Sep; 12(9): 1352. Published online 2021 Aug 29. doi: 10.3390/genes12091352

PMCID:: PMC8469011

Abstract Article PDF–4.0M

Select item 826721320.

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

Francesco Testa, Andrea Sodi, Sabrina Signorini, Valentina Di Iorio, Vittoria Murro, Raffaella Brunetti-Pierri, Enza Maria Valente, Marianthi Karali, Paolo Melillo, Sandro Banfi, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2021 Jul; 62(9): 1. Published online 2021 Jul 1. doi: 10.1167/iovs.62.9.1

PMCID:: PMC8267213

Abstract Article PDF–776K

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