Genetics

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Biochemistry and Molecular Biology June 2017

Identification of Novel G Protein–Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism

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Elisabetta De Filippo; Prashiela Manga; Anke C. Schiedel
TAGS: albinism, ocular, arrestin, chinese hamster ovary cell, ethacridine, lactates, levodopa, ligands, melanins, melanocyte, monophenol monooxygenase, niclosamide, pimozide, pharmacology, proteins, g-protein-coupled receptors, x-linked inheritance, screening, lysate
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3118-3126. doi: 10.1167/iovs.16-21128

Includes: Supplemental Content

Retina June 2017

Reliability and Agreement Between Metrics of Cone Spacing in Adaptive Optics Images of the Human Retinal Photoreceptor Mosaic

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Daniela Giannini; Giuseppe Lombardo; Letizia Mariotti; Nicholas Devaney; Sebastiano Serrao; Marco Lombardo
TAGS: retinal cone, optics, photoreceptors, retinal diseases, mosaicism, reliability, chief complaint
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3127-3137. doi: 10.1167/iovs.16-20890

Includes: Supplemental Content

Genetics June 2017

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase

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Marie H. Solheim; Allen C. Clermont; Jonathon N. Winnay; Erlend Hallstensen; Anders Molven; Pål R. Njølstad; Eyvind Rødahl; C. Ronald Kahn
TAGS: congenital abnormality, mutation, 1-phosphatidylinositol 3-kinase, eye, intraocular pressure, iris, mice, immune reconstitution inflammatory syndrome, short syndrome
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3100-3106. doi: 10.1167/iovs.16-21347

Includes: Supplemental Content

Cornea June 2017

Rat Limbal Niche Cells Prevent Epithelial Stem/Progenitor Cells From Differentiation and Proliferation by Inhibiting Notch Signaling Pathway In Vitro

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Jing Li; Szu-Yu Chen; Xin-Yue Zhao; Ming-Chang Zhang; Hua-Tao Xie
TAGS: signal transduction, western blotting, stem cells, epithelium, ligands, cornea, notch signaling pathway, dual antiplatelet therapy
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2968-2976. doi: 10.1167/iovs.16-20642

Includes: Supplemental Content

Retinal Cell Biology June 2017

Overexpression of Angiotensin-Converting Enzyme 2 Ameliorates Amyloid β-Induced Inflammatory Response in Human Primary Retinal Pigment Epithelium

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Xinyu Fu; Ru Lin; Yiguo Qiu; Peng Yu; Bo Lei
TAGS: amyloid, apoptosis, cytokine, polymerase chain reaction, enzyme-linked immunosorbent assay, angiotensin-converting enzyme, inflammation, plasmids, monocyte chemoattractant protein-1, rna, messenger, proteins, antagonists, inflammatory response, protein overexpression, retinal pigment epithelium, retinal pigment cell
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3018-3028. doi: 10.1167/iovs.17-21546

Article June 2017

Possible role for recurrent interactions between expansion and contraction cells in MSTd during self-motion perception in dynamic environments

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Oliver W. Layton; Brett R. Fajen
TAGS: frontotemporal dementia, motion, perception, recurrence, mapt gene
Journal of Vision. 2017; 17(5):5. doi: 10.1167/17.5.5

Retina June 2017

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

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Kamron N. Khan; Mohammed E. El-Asrag; Cristy A. Ku; Graham E. Holder; Martin McKibbin; Gavin Arno; James A. Poulter; Keren Carss; Tejaswi Bommireddy; Saghar Bagheri; Benjamin Bakall; Hendrik P. Scholl; F. Lucy Raymond; Carmel Toomes; Chris F. Inglehearn; Mark E. Pennesi; Anthony T. Moore; Michel Michaelides; Andrew R. Webster; Manir Ali; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium
TAGS: alleles, presynaptic terminals, mutation, fluorescent antibody technique, photoreceptors, retinal diseases, retinitis pigmentosa, proteins, retina, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2906-2914. doi: 10.1167/iovs.16-20608

Includes: Supplemental Content

Cornea June 2017

SERPINA3K Ameliorates the Corneal Oxidative Injury Induced by 4-Hydroxynonenal

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Xiling Zheng; Huixia Cui; Yuanyuan Yin; Yajing Zhang; Rongrong Zong; Xiaorui Bao; Jian-xing Ma; Zuguo Liu; Yueping Zhou
TAGS: antioxidants, western blotting, oxidants, wounds and injuries, cornea
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2874-2883. doi: 10.1167/iovs.17-21544

Glaucoma June 2017

Comparison of MicroRNA Expression in Aqueous Humor of Normal and Primary Open-Angle Glaucoma Patients Using PCR Arrays: A Pilot Study

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Hari Jayaram; Jay I. Phillips; Diana C. Lozano; Tiffany E. Choe; William O. Cepurna; Elaine C. Johnson; John C. Morrison; Devin M. Gattey; Julie A. Saugstad; Kate E. Keller
TAGS: polymerase chain reaction, hypertension, open-angle glaucoma, pilot projects, aqueous humor, micro rna
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):2884-2890. doi: 10.1167/iovs.17-21844

Includes: Supplemental Content

Genetics June 2017

Mutations in LRP5 , FZD4 , TSPAN12 , NDP , ZNF408 , or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy

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Feng-Qin Rao; Xue-Bi Cai; Fei-Fei Cheng; Wan Cheng; Xiao-Long Fang; Na Li; Xiu-Feng Huang; Li-Hong Li; Zi-Bing Jin
TAGS: mutation, genes, genetics, chinese people, chinese (other dialects), familial exudative vitreoretinopathy
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2623-2629. doi: 10.1167/iovs.16-21324

Includes: Supplemental Content

Glaucoma May 2017

A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients

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Teruhiko Hamanaka; Masae Kimura; Tetsuro Sakurai; Nobuo Ishida; Jun Yasuda; Masao Nagasaki; Naoki Nariai; Atsushi Endo; Kei Homma; Fumiki Katsuoka; Yoichi Matsubara; Masayuki Yamamoto; Nobuo Fuse
TAGS: mutation, open-angle glaucoma, trabeculectomy, eye, genetics, myoc gene, japanese
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2818-2831. doi: 10.1167/iovs.16-20646

Review May 2017

CRISPR-Cas Genome Surgery in Ophthalmology

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James E. DiCarlo; Jesse D. Sengillo; Sally Justus; Thiago Cabral; Stephen H. Tsang; Vinit B. Mahajan
TAGS: genome, ophthalmology, surgical procedures, operative, eye, surgery specialty, crispr
Trans. Vis. Sci. Tech.. 2017; 6(3):13. doi: 10.1167/tvst.6.3.13

Biochemistry and Molecular Biology May 2017

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

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Lori S. Sullivan; Sara J. Bowne; Daniel C. Koboldt; Elizabeth L. Cadena; John R. Heckenlively; Kari E. Branham; Dianna H. Wheaton; Kaylie D. Jones; Richard S. Ruiz; Mark E. Pennesi; Paul Yang; David Davis-Boozer; Hope Northrup; Vsevold V. Gurevich; Rui Chen; Mingchu Xu; Yumei Li; David G. Birch; Stephen P. Daiger
TAGS: mutation, arrestin, family, genes, hispanics or latinos, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2774-2784. doi: 10.1167/iovs.16-21341

Cornea May 2017

KLF4 Plays an Essential Role in Corneal Epithelial Homeostasis by Promoting Epithelial Cell Fate and Suppressing Epithelial–Mesenchymal Transition

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Anil Tiwari; Chelsea L. Loughner; Sudha Swamynathan; Shivalingappa K. Swamynathan
TAGS: epithelium, homeostasis, cyclin d1, antibodies, cornea, survivin, epithelial cells, e-cadherin, epithelial to mesenchymal transition
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2785-2795. doi: 10.1167/iovs.17-21826

Includes: Supplemental Content

Physiology and Pharmacology May 2017

Sigma-1 Receptor Regulates Mitochondrial Function in Glucose- and Oxygen-Deprived Retinal Ganglion Cells

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Dorette Z. Ellis; Linya Li; Yong Park; Shaoqing He; Brett Mueller; Thomas Yorio
TAGS: oxygen, mitochondria, glucose, cytochrome c oxidase, pentazocine, retinal ganglion cells, protein overexpression, caspase-3
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2755-2764. doi: 10.1167/iovs.16-19199

Retinal Cell Biology May 2017

Downregulation of Lysyl Oxidase Protects Retinal Endothelial Cells From High Glucose–Induced Apoptosis

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Dongjoon Kim; Robert P. Mecham; Philip C. Trackman; Sayon Roy
TAGS: apoptosis, diabetes mellitus, endothelial cells, glucose, aminopropionitrile, down-regulation, protein-lysine 6-oxidase, retina, rna, small interfering, protein overexpression, proto-oncogene proteins c-akt, caspase-3
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2725-2731. doi: 10.1167/iovs.16-21340

Special Issue May 2017

Omics Biomarkers in Ophthalmology

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Susette Lauwen; Eiko K. de Jong; Dirk J. Lefeber; Anneke I. den Hollander
TAGS: glaucoma, biological markers, eye diseases, genome, myopia, ophthalmology, genetics, proteins
Invest. Ophthalmol. Vis. Sci.. 2017; 58(6):BIO88-BIO98. doi: 10.1167/iovs.17-21809

Includes: Supplemental Content

Lens May 2017

Transcriptome of the GSH-Depleted Lens Reveals Changes in Detoxification and EMT Signaling Genes, Transport Systems, and Lipid Homeostasis

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Jeremy A. Whitson; Xiang Zhang; Mario Medvedovic; Jenny Chen; Zongbo Wei; Vincent M. Monnier; Xingjun Fan
TAGS: signal transduction, genes, lens, crystalline, lens (device), epithelial to mesenchymal transition
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2666-2684. doi: 10.1167/iovs.16-21398

Includes: Supplemental Content

Retina May 2017

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

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Samuel G. Jacobson; Artur V. Cideciyan; Alexander Sumaroka; Alejandro J. Roman; Jason Charng; Monica Lu; Windy Choi; Rebecca Sheplock; Malgorzata Swider; Mychajlo S. Kosyk; Sharon B. Schwartz; Edwin M. Stone; Gerald A. Fishman
TAGS: mutation, cohort studies, genes, introns, questionnaires, vision, diagnostic imaging, eye, leber's amaurosis, measures of outcome
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2609-2622. doi: 10.1167/iovs.17-21560

Includes: Supplemental Content

Cornea May 2017

Fibroblast Growth Factor Receptor 2 (FGFR2) Is Required for Meibomian Gland Homeostasis in the Adult Mouse

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Lixing W. Reneker; Lanlan Wang; Rebecca T. Irlmeier; Andrew J. W. Huang
TAGS: homeostasis, adult, atrophy, meibomian gland, fibroblast growth factor receptors, mice, fgfr2 gene
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2638-2646. doi: 10.1167/iovs.16-21204

Includes: Supplemental Content

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Identification of Novel G Protein–Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism

Reliability and Agreement Between Metrics of Cone Spacing in Adaptive Optics Images of the Human Retinal Photoreceptor Mosaic

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase

Rat Limbal Niche Cells Prevent Epithelial Stem/Progenitor Cells From Differentiation and Proliferation by Inhibiting Notch Signaling Pathway In Vitro

Overexpression of Angiotensin-Converting Enzyme 2 Ameliorates Amyloid β-Induced Inflammatory Response in Human Primary Retinal Pigment Epithelium

Possible role for recurrent interactions between expansion and contraction cells in MSTd during self-motion perception in dynamic environments

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

SERPINA3K Ameliorates the Corneal Oxidative Injury Induced by 4-Hydroxynonenal

Comparison of MicroRNA Expression in Aqueous Humor of Normal and Primary Open-Angle Glaucoma Patients Using PCR Arrays: A Pilot Study

Mutations in LRP5 , FZD4 , TSPAN12 , NDP , ZNF408 , or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy

A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients

CRISPR-Cas Genome Surgery in Ophthalmology

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

KLF4 Plays an Essential Role in Corneal Epithelial Homeostasis by Promoting Epithelial Cell Fate and Suppressing Epithelial–Mesenchymal Transition

Sigma-1 Receptor Regulates Mitochondrial Function in Glucose- and Oxygen-Deprived Retinal Ganglion Cells

Downregulation of Lysyl Oxidase Protects Retinal Endothelial Cells From High Glucose–Induced Apoptosis

Omics Biomarkers in Ophthalmology

Transcriptome of the GSH-Depleted Lens Reveals Changes in Detoxification and EMT Signaling Genes, Transport Systems, and Lipid Homeostasis

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

Fibroblast Growth Factor Receptor 2 (FGFR2) Is Required for Meibomian Gland Homeostasis in the Adult Mouse

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