Genetics

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Anatomy and Pathology/Oncology October 2024

The Impact of Spliceosome Inhibition in SF3B1 -Mutated Uveal Melanoma

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Josephine Q. N. Nguyen; Wojtek Drabarek; Aïsha M. C. H. J. Leeflang; Tom Brands; Thierry P. P. van den Bosch; Robert M. Verdijk; Harmen J. G. van de Werken; Job van Riet; Dion Paridaens; Annelies de Klein; Erwin Brosens; Emine Kiliç; on behalf of the Rotterdam Ocular Melanoma Study Group
TAGS: intraocular melanoma, mutation, neoplasms, rna splicing, sf3b1 gene, spliceosomes, cell lines, genes, mechlorethamine, body tissue
Invest. Ophthalmol. Vis. Sci.. 2024; 65(12):11. https://doi.org/10.1167/iovs.65.12.11

Includes: Supplemental Content

Retina October 2024

Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3 -Associated Achromatopsia

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Mohamed Katta; Michalis Georgiou; Navjit Singh; Angelos Kalitzeos; Alfredo Dubra; Joseph Carroll; Michel Michaelides
TAGS: achromatopsia, diagnostic imaging, mosaicism, retinal cone, mosaic trial
Invest. Ophthalmol. Vis. Sci.. 2024; 65(12):6. https://doi.org/10.1167/iovs.65.12.6

Includes: Supplemental Content

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology October 2024

Ganglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy

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Johan Hedström; Maria Nilsson; Martin Engvall; Pete A. Williams; Abinaya Priya Venkataraman
TAGS: ganglia, optic atrophy, hereditary, leber, vision, visual fields
Invest. Ophthalmol. Vis. Sci.. 2024; 65(12):4. https://doi.org/10.1167/iovs.65.12.4

Includes: Supplemental Content

Cornea October 2024

Mesenchymal Stem Cells-Derived Exosomal miR-223-3p Alleviates Ocular Surface Damage and Inflammation by Downregulating Fbxw7 in Dry Eye Models

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Guifang Wang; Yujie Zhu; Yuzhen Liu; Mulin Yang; Li Zeng
TAGS: bacterial artificial chromosomes, blood alcohol concentration, bronchioloalveolar carcinoma, dry eye syndromes, f-box-wd repeat-containing protein 7, fbxw7 gene, inflammation, mice, ocular surfaces, cornea
Invest. Ophthalmol. Vis. Sci.. 2024; 65(12):1. https://doi.org/10.1167/iovs.65.12.1

Includes: Supplemental Content

Letters to the Editor September 2024

Neurofilament Isoform Promoter-Driven Expression of Therapeutic Genes

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Axel Petzold
TAGS: genes, protein isoforms
Trans. Vis. Sci. Tech.. 2024; 13(9):30. https://doi.org/10.1167/tvst.13.9.30

Retina September 2024

Exploring Scotopic Microperimetry as an Outcome Measure in Choroideremia

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Laura J. Taylor; Amandeep S. Josan; Daniel Adeyoju; Jasleen K. Jolly; Robert E. MacLaren
TAGS: choroideremia, outcome measures, rod photoreceptors, volume
Trans. Vis. Sci. Tech.. 2024; 13(9):29. https://doi.org/10.1167/tvst.13.9.29

Includes: Supplemental Content

Neuro-ophthalmology September 2024

Pharmacological Activation and Transgenic Overexpression of SIRT1 Attenuate Traumatic Optic Neuropathy Induced by Blunt Head Impact

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Alex Kwok; Brahim Chaqour; Reas S. Khan; Puya Aravand; Kimberly Dine; Ahmara G. Ross; Kenneth S. Shindler
TAGS: mice, traumatic brain injuries, protein overexpression, optic nerve injuries, attenuation, pharmacology, vision
Trans. Vis. Sci. Tech.. 2024; 13(9):27. https://doi.org/10.1167/tvst.13.9.27

Cornea September 2024

Single-Cell Transcriptomic Analysis Reveals Dynamic Cellular Processes in Corneal Epithelium During Wound Healing in Cynomolgus Monkeys

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Ming Zhou; Zhuo-Xing Shi; Zhong Liu; Shu-Rui Ke; Chao-Yang Wang; Xiao-Lin Liang; Qiu-Ling Hu; Qi-Kai Zhang; Dong-Liang Wang; Li Sun; Yu-Heng Lin; Qi Dai; Ying-Feng Zheng
TAGS: cornea, corneal epithelium, genes, macaca fascicularis, wound healing, epithelium, transcription, genetic, wounds and injuries
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):43. https://doi.org/10.1167/iovs.65.11.43

Includes: Supplemental Content

Clinical and Epidemiologic Research September 2024

Visual Performance of People With Albinism Assessed With Generalizable and Adaptive AIM and FInD Methods

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Jan Skerswetat; Nicole Christie Ross; Cecilia Idman-Rait; Katie Sun; Olivia Wynn; Peter John Bex
TAGS: albinism, color, contrast sensitivity, motion, noise, psychophysics, visual acuity, vision, glare
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):34. https://doi.org/10.1167/iovs.65.11.34

Includes: Supplemental Content

Immunology and Microbiology September 2024

Relationship Between Fluoroquinolone Resistance and Mutations in the Quinolone Resistance-Determining Region in Corynebacterium macginleyi

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Nobuhiro Kato; Masatoshi Haruta; Rikki Arai; Kazunori Sato; Kei Furushima; Kanako Yokomizo; Miki Okuno; Takeshi Yamamoto; Yoshitoshi Ogura; Shigeo Yoshida
TAGS: corynebacterium, fluoroquinolones, mutation, quinolones, resistance genes, conjunctiva
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):38. https://doi.org/10.1167/iovs.65.11.38

Cornea September 2024

RTP4 Enhances Corneal HSV-1 Infection in Mice With Type 2 Diabetes Mellitus

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Yunhai Dai; Shilan Mao; Xinyi Zang; Hongqi Ge; Jing Feng; Yalin Wang; Xia Qi; Lingling Yang; Qingjun Zhou; Xiaolei Wang
TAGS: cornea, diabetes mellitus, type 2, human herpesvirus 1, infections, mice
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):36. https://doi.org/10.1167/iovs.65.11.36

Includes: Supplemental Content

Retinal Cell Biology September 2024

Blue Light-Induced Accelerated Formation of Melanolipofuscin-Like Organelles in Japanese Quail RPE Cells: An Electron Microscopic Study

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Natalia B. Serejnikova; Natalia N. Trofimova; Marina A. Yakovleva; Alexander E. Dontsov; Pavel P. Zak; Mikhail A. Ostrovsky
TAGS: granules, japanese, lipofuscin, organelles, quail, retinal pigment cell, langer-giedion syndrome, melanins, melanosomes
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):31. https://doi.org/10.1167/iovs.65.11.31

Retina September 2024

Establishing Clinical Trial Endpoints in Selecting Patients for RPGR Retinal Gene Therapy

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Evita Evangelia Christou; Amandeep S. Josan; Jasmina Cehajic-Kapetanovic; Robert E. MacLaren
TAGS: gene therapy, retinitis pigmentosa, surrogate endpoints
Trans. Vis. Sci. Tech.. 2024; 13(9):18. https://doi.org/10.1167/tvst.13.9.18

Lens September 2024

Altered Cell Clusters and Upregulated Aqp1 in Connexin 50 Knockout Lens Epithelium

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Chun-Hong Xia; William Lin; Rachel Li; Xinfang Xing; Guangdu Jack Shang; Haiwei Zhang; Xiaohua Gong
TAGS: aquaporin 1, gap junction protein, lens (device), lens epithelial cell, lens epithelium, lens, crystalline, rna, small cytoplasmic, mice, western blotting, genes
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):27. https://doi.org/10.1167/iovs.65.11.27

Includes: Supplemental Content

Retina September 2024

Multilayer Retinal Correspondence of the Structural and Vascular Anomalies in Eyes With Early Macular Telangiectasia Type 2

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Valérie Krivosic; Zoe Dobbels; Cedric Duliere; Abir Zureik; Ramin Tadayoni; Alain Gaudric
TAGS: eye, retinal cone, retinal correspondence, telangiectasis, vascular anomalies, attenuation, blood capillaries, dilatation, pathologic
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):24. https://doi.org/10.1167/iovs.65.11.24

Includes: Supplemental Content

Retinal Cell Biology September 2024

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV- HADHA Vector

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Tiffany DeVine; Gabriela Elizondo; Garen Gaston; Shannon J. Babcock; Dietrich Matern; Mikhail S. Shchepinov; Mark E. Pennesi; Cary O. Harding; Melanie B. Gillingham
TAGS: disease vectors, induced pluripotent stem cells, ketones, lipid peroxidation, retinal pigment cell, spatial vectors, transfection, fatty acid oxidation, mitochondria
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):22. https://doi.org/10.1167/iovs.65.11.22

Includes: Supplemental Content

Biochemistry and Molecular Biology September 2024

Metabolic Phenotyping of Healthy and Diseased Human RPE Cells

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Saira Rizwan; Beverly Toothman; Bo Li; Abbi L. Engel; Rayne R. Lim; Sheldon Niernberger; Jinyu Lu; Cloe Ratliff; Yinxiao Xiang; Mark Eminhizer; Jennifer R. Chao; Jianhai Du
TAGS: glutamine, nutrients, phenotype determination, retinal pigment cell, sugars, induced pluripotent stem cells, amino acids
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):5. https://doi.org/10.1167/iovs.65.11.5

Includes: Supplemental Content

Cornea & External Disease September 2024

Causal Association Between Atopic Dermatitis and Keratoconus: A Mendelian Randomization Study

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Yuan Chang; Tianze Huang; Shan Yang; Ying Li; Di Chen
TAGS: atopic dermatitis, keratoconus, mendelian randomization analysis, genome-wide association study, datasets
Trans. Vis. Sci. Tech.. 2024; 13(9):13. https://doi.org/10.1167/tvst.13.9.13

Includes: Supplemental Content

Cornea September 2024

RNA-Seq Analysis Unraveling Novel Genes and Pathways Influencing Corneal Wound Healing

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Rajnish Kumar; Ratnakar Tripathi; Nishant R. Sinha; Rajiv R. Mohan
TAGS: cornea, genes, rna-seq, wound healing, proteins, rna, polymerase chain reaction, myofibroblasts
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):13. https://doi.org/10.1167/iovs.65.11.13

Includes: Supplemental Content

Clinical and Epidemiologic Research September 2024

Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma

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Jiawei Zhao; Michelle D. Williams; Mike Hernandez; Grace Kuang; Hila Goldberg; Janet Fan; Jing Ning; Renata Ferrarotto; Bita Esmaeli
TAGS: adenoid cystic carcinoma, c-myc genes, lacrimal gland, notch1 gene, patient prognosis, tp63 gene, neoplasms, recurrence
Invest. Ophthalmol. Vis. Sci.. 2024; 65(11):4. https://doi.org/10.1167/iovs.65.11.4

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The Impact of Spliceosome Inhibition in SF3B1 -Mutated Uveal Melanoma

Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3 -Associated Achromatopsia

Ganglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy

Mesenchymal Stem Cells-Derived Exosomal miR-223-3p Alleviates Ocular Surface Damage and Inflammation by Downregulating Fbxw7 in Dry Eye Models

Neurofilament Isoform Promoter-Driven Expression of Therapeutic Genes

Exploring Scotopic Microperimetry as an Outcome Measure in Choroideremia

Pharmacological Activation and Transgenic Overexpression of SIRT1 Attenuate Traumatic Optic Neuropathy Induced by Blunt Head Impact

Single-Cell Transcriptomic Analysis Reveals Dynamic Cellular Processes in Corneal Epithelium During Wound Healing in Cynomolgus Monkeys

Visual Performance of People With Albinism Assessed With Generalizable and Adaptive AIM and FInD Methods

Relationship Between Fluoroquinolone Resistance and Mutations in the Quinolone Resistance-Determining Region in Corynebacterium macginleyi

RTP4 Enhances Corneal HSV-1 Infection in Mice With Type 2 Diabetes Mellitus

Blue Light-Induced Accelerated Formation of Melanolipofuscin-Like Organelles in Japanese Quail RPE Cells: An Electron Microscopic Study

Establishing Clinical Trial Endpoints in Selecting Patients for RPGR Retinal Gene Therapy

Altered Cell Clusters and Upregulated Aqp1 in Connexin 50 Knockout Lens Epithelium

Multilayer Retinal Correspondence of the Structural and Vascular Anomalies in Eyes With Early Macular Telangiectasia Type 2

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV- HADHA Vector

Metabolic Phenotyping of Healthy and Diseased Human RPE Cells

Causal Association Between Atopic Dermatitis and Keratoconus: A Mendelian Randomization Study

RNA-Seq Analysis Unraveling Novel Genes and Pathways Influencing Corneal Wound Healing

Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma

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