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Select item 110107191.

Gene augmentation for autosomal dominant CRX-associated retinopathies

Chi Sun, Shiming Chen

Adv Exp Med Biol. Author manuscript; available in PMC 2024 Apr 12.

Published in final edited form as: Adv Exp Med Biol. 2023; 1415: 135–141. doi: 10.1007/978-3-031-27681-1_21

PMCID:: PMC11010719

Abstract Article PDF–265K

Select item 109297442.

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials

Yili Jin, Songshan Li, Zhaoxin Jiang, Limei Sun, Li Huang, Ting Zhang, Xinyu Liu, Xiaoyan Ding

Invest Ophthalmol Vis Sci. 2024 Mar; 65(3): 11. Published online 2024 Mar 11. doi: 10.1167/iovs.65.3.11

PMCID:: PMC10929744

Abstract Article PDF–2.8M

Select item 108441433.

Multi-luminance mobility testing after gene therapy in the context of retinal functional diagnostics

Ronja Jung, Melanie Kempf, Saskia Holocher, Friederike C. Kortüm, Krunoslav Stingl, Katarina Stingl

Graefes Arch Clin Exp Ophthalmol. 2024; 262(2): 601–607. Published online 2023 Sep 28. doi: 10.1007/s00417-023-06237-4

PMCID:: PMC10844143

Abstract Article PDF–771K

Select item 108165384.

The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort

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

Int J Mol Sci. 2024 Jan; 25(2): 1253. Published online 2024 Jan 19. doi: 10.3390/ijms25021253

PMCID:: PMC10816538

Abstract Article PDF–3.7M

Select item 103567085.

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 102926696.

Cat LCA-CRX Model, Homozygous for an Antimorphic Mutation Has a Unique Phenotype

Laurence M. Occelli, Nicholas M. Tran, Shiming Chen, Simon M. Petersen-Jones

Transl Vis Sci Technol. 2023 Jun; 12(6): 15. Published online 2023 Jun 23. doi: 10.1167/tvst.12.6.15

PMCID:: PMC10292669

Abstract Article PDF–16M

Select item 102190057.

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

Int J Mol Sci. 2023 May; 24(10): 8915. Published online 2023 May 17. doi: 10.3390/ijms24108915

PMCID:: PMC10219005

Abstract Article PDF–5.1M

Select item 102180178.

Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans

Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon Woo

Genes (Basel) 2023 May; 14(5): 1057. Published online 2023 May 8. doi: 10.3390/genes14051057

PMCID:: PMC10218017

Abstract Article PDF–3.7M

Select item 100269899.

The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control

Ciria C. Hernandez, Luis E. Gimenez, Naima S. Dahir, Alys Peisley, Roger D. Cone

Am J Physiol Cell Physiol. 2023 Mar 1; 324(3): C694–C706. Published online 2023 Jan 30. doi: 10.1152/ajpcell.00335.2022

PMCID:: PMC10026989

Abstract Article

Select item 983700710.

Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

Anna Skorczyk-Werner, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Maciej Robert Krawczyński

J Appl Genet. 2023; 64(1): 89–104. Published online 2022 Nov 12. doi: 10.1007/s13353-022-00733-9

PMCID:: PMC9837007

Abstract Article PDF–2.3M

Select item 969516011.

Protrusion of KCNJ13 Gene Knockout Retinal Pigment Epithelium Due to Oxidative Stress–Induced Cell Death

Yuki Kanzaki, Hirofumi Fujita, Keita Sato, Mio Hosokawa, Hiroshi Matsumae, Yuki Morizane, Hideyo Ohuchi

Invest Ophthalmol Vis Sci. 2022 Nov; 63(12): 29. Published online 2022 Nov 22. doi: 10.1167/iovs.63.12.29

PMCID:: PMC9695160

Abstract Article PDF–3.4M

Select item 942604512.

Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy

Rajani Battu, Dhanashree Ratra, Lingam Gopal

Indian J Ophthalmol. 2022 Jul; 70(7): 2316–2325. Published online 2022 Jun 30. doi: 10.4103/ijo.IJO_82_22

PMCID:: PMC9426045

Abstract Article PDF–1.7M

Select item 940798313.

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review

Joseph Griffith, III, Kareem Sioufi, Laurie Wilbanks, George N. Magrath, Emil A. T. Say, Michael J. Lyons, Meg Wilkes, Gurpur Shashidhar Pai, Mae Millicent Winfrey Peterseim

Genes (Basel) 2022 Aug; 13(8): 1490. Published online 2022 Aug 20. doi: 10.3390/genes13081490

PMCID:: PMC9407983

Abstract Article PDF–788K

Select item 927154614.

Structural and functional analysis of the human cone‐rod homeobox transcription factor

Penelope‐Marie B. Clanor, Christine N. Buchholz, Jonathan E. Hayes, Michael A. Friedman, Andrew M. White, Ray A. Enke, Christopher E. Berndsen

Proteins. 2022 Aug; 90(8): 1584–1593. Published online 2022 Mar 23. doi: 10.1002/prot.26332

PMCID:: PMC9271546

Abstract Article PDF–2.3M

Select item 926690515.

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, Urs Graf, Luzy Bähr, Alessandro Maspoli, Annette Hackenberg, Raimund Kottke, Christina Gerth-Kahlert, Wolfgang Berger

Int J Mol Sci. 2022 Jul; 23(13): 7382. Published online 2022 Jul 2. doi: 10.3390/ijms23137382

PMCID:: PMC9266905

Abstract Article PDF–2.7M

Select item 922682716.

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 903312517.

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Julia Zhu, Kirk A. J. Stephenson, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, Susan Fitzsimon, G. Jane Farrar, D. Ian Flitcroft, David J. Keegan

Genes (Basel) 2022 Apr; 13(4): 615. Published online 2022 Mar 29. doi: 10.3390/genes13040615

PMCID:: PMC9033125

Abstract Article PDF–620K

Select item 901035818.

Real-world Outcomes of Voretigene Neparvovec Treatment in Pediatric Patients with RPE65-associated Leber Congenital Amaurosis

Callie Deng, Peter Y. Zhao, Kari Branham, Dana Schlegel, Abigail T. Fahim, K. Thiran Jayasundera, Naheed Khan, Cagri G. Besirli

Graefes Arch Clin Exp Ophthalmol. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2022 May; 260(5): 1543–1550. Published online 2022 Jan 10. doi: 10.1007/s00417-021-05508-2