Genetics

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Genetics May 2018

Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

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Bao Jian Fan; Xueli Chen; Nisha Sondhi; P. Ferdinamarie Sharmila; Nagasamy Soumittra; Sarangapani Sripriya; Srinivasan Sacikala; Rashima Asokan; David S. Friedman; Louis R. Pasquale; X. Raymond Gao; Lingam Vijaya; Jessica Cooke Bailey; Veronique Vitart; Stuart MacGregor; Christopher J. Hammond; Chiea Chuen Khor; Jonathan L. Haines; Ronnie George; Janey L. Wiggs; for the Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium
TAGS: cohort studies, family, genetic pedigree, single nucleotide polymorphism, cornea, genome-wide association study
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2495-2502. doi: 10.1167/iovs.17-23536

Includes: Supplemental Content

Cornea May 2018

Generation and Proteome Profiling of PBMC-Originated, iPSC-Derived Corneal Endothelial Cells

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Muhammad Ali; Shahid Y. Khan; Shivakumar Vasanth; Mariya R. Ahmed; Ruiqiang Chen; Chan Hyun Na; Jason J. Thomson; Caihong Qiu; John D. Gottsch; S. Amer Riazuddin
TAGS: polymerase chain reaction, cryopreservation, proteome, cornea, chronic exertional compartment syndrome, peripheral blood mononuclear cell
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2437-2444. doi: 10.1167/iovs.17-22927

Includes: Supplemental Content

Immunology and Microbiology May 2018

Depletion of the Receptor-Interacting Protein Kinase 3 (RIP3) Decreases Photoreceptor Cell Death During the Early Stages of Ocular Murine Cytomegalovirus Infection

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Jinxian Xu; Juan Mo; Xinglou Liu; Brendan Marshall; Sally S. Atherton; Zheng Dong; Sylvia Smith; Ming Zhang
TAGS: apoptosis, in situ nick-end labeling, photoreceptors, protein kinase, infection, cytomegalovirus, eye, mice, caspase-3
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2445-2458. doi: 10.1167/iovs.18-24086

Genetics May 2018

Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry–Derived Metrics in RPGR -Associated Retinopathy

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James J. L. Tee; Yesa Yang; Angelos Kalitzeos; Andrew Webster; James Bainbridge; Richard G. Weleber; Michel Michaelides
TAGS: genotype, perimetry, retinal diseases, retinitis pigmentosa, vision, baseline value
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2422-2436. doi: 10.1167/iovs.17-23739

Retinal Cell Biology May 2018

Expression Profiling Analysis Reveals Key MicroRNA–mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa

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Ander Anasagasti; Maitane Ezquerra-Inchausti; Olatz Barandika; Maider Muñoz-Culla; María M. Caffarel; David Otaegui; Adolfo López de Munain; Javier Ruiz-Ederra
TAGS: retinal degeneration, micrornas, rna, messenger, gene expression profiling
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2381-2392. doi: 10.1167/iovs.18-24091

Includes: Supplemental Content

Genetics May 2018

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

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Inmaculada Martin-Merida; Domingo Aguilera-Garcia; Patricia Fernandez-San Jose; Fiona Blanco-Kelly; Olga Zurita; Berta Almoguera; Blanca Garcia-Sandoval; Almudena Avila-Fernandez; Ana Arteche; Pablo Minguez; Miguel Carballo; Marta Corton; Carmen Ayuso
TAGS: mutation, cohort studies, family, genes, retinitis pigmentosa, genetic analysis, screening, massively-parallel genome sequencing, copy number polymorphism, spanish, choroidal neovascularization
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2345-2354. doi: 10.1167/iovs.18-23854

Includes: Supplemental Content

Biochemistry and Molecular Biology May 2018

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

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Fabian Garces; Kailun Jiang; Laurie L. Molday; Heidi Stöhr; Bernhard H. Weber; Christopher J. Lyons; David Maberley; Robert S. Molday
TAGS: phenotype, mutation, proteins, stargardt's disease, missense mutation, adenosine triphosphatases
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2305-2315. doi: 10.1167/iovs.17-23364

Retina May 2018

Proteomic Analysis of Early Diabetic Retinopathy Reveals Mediators of Neurodegenerative Brain Diseases

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Jeffrey M. Sundstrom; Cristina Hernández; Sarah R. Weber; Yuanjun Zhao; Mitchell Dunklebarger; Natalia Tiberti; Tatiana Laremore; Olga Simó-Servat; Marta Garcia-Ramirez; Alistair J. Barber; Thomas W. Gardner; Rafael Simó
TAGS: amyloid, diabetes mellitus, parkinson disease, alzheimer's disease, diabetic retinopathy, brain diseases, long-term potentiation, nerve degeneration, neurodegenerative disorders, brain, proteins, retina, proteomics, unfolded protein response, donors, pathogenesis, neuregulins, signal transduction
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2264-2274. doi: 10.1167/iovs.17-23678

Includes: Supplemental Content

Glaucoma May 2018

Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma

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Satoshi Inagaki; Kazuhide Kawase; Michinori Funato; Junko Seki; Chizuru Kawase; Kazuki Ohuchi; Tsubasa Kameyama; Shiori Ando; Arisu Sato; Wataru Morozumi; Shinsuke Nakamura; Masamitsu Shimazawa; Daisuke Iejima; Takeshi Iwata; Tetsuya Yamamoto; Hideo Kaneko; Hideaki Hara
TAGS: timolol, glaucoma, stem cells, pluripotent, optn gene
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2293-2304. doi: 10.1167/iovs.17-22975

Includes: Supplemental Content

Retina May 2018

Conditional Deletion of AP-2α and AP-2β in the Developing Murine Retina Leads to Altered Amacrine Cell Mosaics and Disrupted Visual Function

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Emily Anne Hicks; Mizna Zaveri; Paula A. Deschamps; Michael D. Noseworthy; Alexander Ball; Trevor Williams; Judith A. West-Mays
TAGS: amacrine cells, vision, mice, mosaicism, retina
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2229-2239. doi: 10.1167/iovs.17-23283

Retinal Cell Biology May 2018

Cross-Inhibition of Norrin and TGF-β Signaling Modulates Development of Retinal and Choroidal Vasculature

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Roswitha Seitz; Gregor Weber; Sebastian Albrecht; Rudolf Fuchshofer; Ernst R. Tamm; Andreas Ohlmann
TAGS: signal transduction, mice, proteins, retina, vascular network
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2240-2251. doi: 10.1167/iovs.17-23403

Visual Psychophysics and Physiological Optics April 2018

Color Vision in Aniridia

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Hilde R. Pedersen; Lene A. Hagen; Erlend C. S. Landsend; Stuart J. Gilson; Øygunn A. Utheim; Tor P. Utheim; Maureen Neitz; Rigmor C. Baraas
TAGS: aniridia, color, color vision, foveal hypoplasia
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):2142-2152. doi: 10.1167/iovs.17-23047

Cornea April 2018

Tetramethylpyrazine in a Murine Alkali-Burn Model Blocks NFκB/NRF-1/CXCR4-Signaling-Induced Corneal Neovascularization

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Mingjun Tang; Ying Yang; Jingzhi Yu; Jin Qiu; Pei Chen; Yihui Wu; Qiyun Wang; Zhuojun Xu; Jian Ge; Keming Yu; Jing Zhuang
TAGS: alkalies, burns, choroidal neovascularization, corneal neovascularization, cxcr4 receptors, mice
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):2133-2141. doi: 10.1167/iovs.17-23712

Includes: Supplemental Content

Biochemistry and Molecular Biology April 2018

Age-Related Changes to Human Tear Composition

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Alessandra Micera; Antonio Di Zazzo; Graziana Esposito; Rosa Longo; William Foulsham; Roberto Sacco; Roberto Sgrulletta; Stefano Bonini
TAGS: aging, anti-inflammatory agents, western blotting, enzyme-linked immunosorbent assay, goblet cells, interleukin-3, interleukin-8, matrix metalloproteinases, middle-aged adult, rantes, voluntary workers, interleukin-6, proteins, protein measurement, total, tissue remodeling
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):2024-2031. doi: 10.1167/iovs.17-23358

Glaucoma April 2018

Lysophosphatidic Acid Induces ECM Production via Activation of the Mechanosensitive YAP/TAZ Transcriptional Pathway in Trabecular Meshwork Cells

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Leona T. Y. Ho; Nikolai Skiba; Christoph Ullmer; Ponugoti Vasantha Rao
TAGS: actins, hypertension, transcription, genetic, fluorescent antibody technique, immunoblotting, muscle contraction, myosin light chain kinase, phosphorylation, phosphotransferases, trabecular meshwork, proteins, urea, transcriptional control, connective tissue growth factor, regulation
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1969-1984. doi: 10.1167/iovs.17-23702

Articles April 2018

Sub-Airy Confocal Adaptive Optics Scanning Ophthalmoscopy

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Nripun Sredar; Oladipo E. Fagbemi; Alfredo Dubra
TAGS: retinal cone, ophthalmoscopes, ophthalmoscopy, optics, eye, miosis disorder, pupil constriction, mosaicism
Trans. Vis. Sci. Tech.. 2018; 7(2):17. doi: 10.1167/tvst.7.2.17

Genetics April 2018

The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men

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David W. Collins; Harini V. Gudiseva; Venkata R. M. Chavali; Benjamin Trachtman; Meera Ramakrishnan; William T. Merritt III; Maxwell Pistilli; Rebecca A. Rossi; Stephanie Blachon; Prithvi S. Sankar; Eydie Miller-Ellis; Amanda Lehman; Victoria Addis; Joan M. O'Brien
TAGS: polymorphism, open-angle glaucoma, risk factors
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1751-1759. doi: 10.1167/iovs.17-23277

Includes: Supplemental Content

Clinical Trials April 2018

Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa

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Chantal Dysli; Kaspar Schürch; Escher Pascal; Sebastian Wolf; Martin S. Zinkernagel
TAGS: fluorescence, retinitis pigmentosa, diagnostic imaging, fundus autofluorescence imaging
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1769-1778. doi: 10.1167/iovs.17-23336

Cornea April 2018

Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy

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Elisabetta Soragni; Lina Petrosyan; Tommy A. Rinkoski; Eric D. Wieben; Keith H. Baratz; Michael P. Fautsch; Joel M. Gottesfeld
TAGS: polymerase chain reaction, western blotting, endothelial cells, fibroblast, hereditary corneal dystrophy, dna, endothelium, corneal endothelium, genes, peptides, antibodies, cornea, cytotoxicity, polyglutamine, transluminal attenuation gradient
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1888-1896. doi: 10.1167/iovs.17-23265

Includes: Supplemental Content

Retinal Cell Biology April 2018

Photoreceptor Cell–Derived CAPN5 Regulates Retinal Pigment Epithelium Cell Proliferation Through Direct Regulation of SLIT2 Cleavage

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Yan Wang; Heming Li; Shihu Zang; Fanfan Li; Yingying Chen; Xiao Zhang; Zongming Song; Qing Peng; Feng Gu
TAGS: western blotting, mutation, cell proliferation, photoreceptors, antibodies, mice, proteins, cytokinesis, regulation, retinal pigment epithelium
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1810-1821. doi: 10.1167/iovs.17-22689

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Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus

Generation and Proteome Profiling of PBMC-Originated, iPSC-Derived Corneal Endothelial Cells

Depletion of the Receptor-Interacting Protein Kinase 3 (RIP3) Decreases Photoreceptor Cell Death During the Early Stages of Ocular Murine Cytomegalovirus Infection

Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry–Derived Metrics in RPGR -Associated Retinopathy

Expression Profiling Analysis Reveals Key MicroRNA–mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

Proteomic Analysis of Early Diabetic Retinopathy Reveals Mediators of Neurodegenerative Brain Diseases

Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma

Conditional Deletion of AP-2α and AP-2β in the Developing Murine Retina Leads to Altered Amacrine Cell Mosaics and Disrupted Visual Function

Cross-Inhibition of Norrin and TGF-β Signaling Modulates Development of Retinal and Choroidal Vasculature

Color Vision in Aniridia

Tetramethylpyrazine in a Murine Alkali-Burn Model Blocks NFκB/NRF-1/CXCR4-Signaling-Induced Corneal Neovascularization

Age-Related Changes to Human Tear Composition

Lysophosphatidic Acid Induces ECM Production via Activation of the Mechanosensitive YAP/TAZ Transcriptional Pathway in Trabecular Meshwork Cells

Sub-Airy Confocal Adaptive Optics Scanning Ophthalmoscopy

The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men

Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa

Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy

Photoreceptor Cell–Derived CAPN5 Regulates Retinal Pigment Epithelium Cell Proliferation Through Direct Regulation of SLIT2 Cleavage

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