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Glaucoma February 2018

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

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Jessica N. Cooke Bailey; Puya Gharahkhani; Jae H. Kang; Mariusz Butkiewicz; David A. Sullivan; Robert N. Weinreb; Hugues Aschard; R. Rand Allingham; Allison Ashley-Koch; Richard K. Lee; Sayoko E. Moroi; Murray H. Brilliant; Gadi Wollstein; Joel S. Schuman; John H. Fingert; Donald L. Budenz; Tony Realini; Terry Gaasterland; William K. Scott; Kuldev Singh; Arthur J. Sit; Robert P. Igo, Jr; Yeunjoo E. Song; Lisa Hark; Robert Ritch; Douglas J. Rhee; Douglas Vollrath; Donald J. Zack; Felipe Medeiros; Thasarat S. Vajaranant; Daniel I. Chasman; William G. Christen; Margaret A. Pericak-Vance; Yutao Liu; Peter Kraft; Julia E. Richards; Bernard A. Rosner; Michael A. Hauser; Jamie E. Craig; Kathryn P. Burdon; Alex W. Hewitt; David A. Mackey; Jonathan L. Haines; Stuart MacGregor; Janey L. Wiggs; Louis R. Pasquale; for the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium
TAGS: testosterone, metabolism, polymorphism, glaucoma, genes, open-angle glaucoma, datasets
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):629-636. doi: 10.1167/iovs.17-22708

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Rebalancing RPE energy metabolism slows retinal degeneration

Douglas Vollrath; Melissa Calton

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3024. doi:

ARVO Annual Meeting Abstract September 2016

Knockout of Tsc1 gene in RPE cells mimics the phenotypes of AMD

Shun Gu; Chen Zhao; Joshua Dunaief; Douglas Vollrath

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5773. doi:

Genetics September 2016

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

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Anthony P. Khawaja; Jessica N. Cooke Bailey; Jae Hee Kang; R. Rand Allingham; Michael A. Hauser; Murray Brilliant; Donald L. Budenz; William G. Christen; John Fingert; Douglas Gaasterland; Terry Gaasterland; Peter Kraft; Richard K. Lee; Paul R. Lichter; Yutao Liu; Felipe Medeiros; Syoko E. Moroi; Julia E. Richards; Tony Realini; Robert Ritch; Joel S. Schuman; William K. Scott; Kuldev Singh; Arthur J. Sit; Douglas Vollrath; Gadi Wollstein; Donald J. Zack; Kang Zhang; Margaret Pericak-Vance; Robert N. Weinreb; Jonathan L. Haines; Louis R. Pasquale; Janey L. Wiggs
TAGS: mitochondria, genes, open-angle glaucoma, genetics
Invest. Ophthalmol. Vis. Sci.. 2016; 57(11):5046-5052. doi: 10.1167/iovs.16-20017

Includes: Supplemental Content

Genetics August 2016

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

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Yutao Liu; Jessica Cooke Bailey; Inas Helwa; W. Michael Dismuke; Jingwen Cai; Michelle Drewry; Murray H. Brilliant; Donald L. Budenz; William G. Christen; Daniel I. Chasman; John H. Fingert; Douglas Gaasterland; Terry Gaasterland; Mae O. Gordon; Robert P. Igo, Jr; Jae H. Kang; Michael A. Kass; Peter Kraft; Richard K. Lee; Paul Lichter; Sayoko E. Moroi; Anthony Realini; Julia E. Richards; Robert Ritch; Joel S. Schuman; William K. Scott; Kuldev Singh; Arthur J. Sit; Yeunjoo E. Song; Douglas Vollrath; Robert Weinreb; Felipe Medeiros; Gadi Wollstein; Donald J. Zack; Kang Zhang; Margaret A. Pericak-Vance; Pedro Gonzalez; W. Daniel Stamer; John Kuchtey; Rachel W. Kuchtey; R. Rand Allingham; Michael A. Hauser; Louis R. Pasquale; Jonathan L. Haines; Janey L. Wiggs
TAGS: hypertension, glaucoma, open-angle glaucoma, body tissue, exosomes, micrornas, neighborhood
Invest. Ophthalmol. Vis. Sci.. 2016; 57(10):4528-4535. doi: 10.1167/iovs.16-19688

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

An Expression Quantitative Trait Locus Modifies Mertk -Associated Retinal Degeneration

Douglas Vollrath; Douglas Yasumura; Wei Feng; Michael Matthes; Gillie Ben-Chorin; Natalie Nguyen; Cecilia Sedano; Melissa Ann Calton; Matthew M LaVail

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4347. doi:

ARVO Annual Meeting Abstract June 2015

Alteration of retinal pigment epithelium metabolism mediates retinal degeneration

Melissa Ann Calton; Douglas Vollrath

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5520. doi:

Genetics December 2014

DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

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Yutao Liu; Melanie E. Garrett; Brian L. Yaspan; Jessica Cooke Bailey; Stephanie J. Loomis; Murray Brilliant; Donald L. Budenz; William G. Christen; John H. Fingert; Douglas Gaasterland; Terry Gaasterland; Jae H. Kang; Richard K. Lee; Paul Lichter; Sayoko E. Moroi; Anthony Realini; Julia E. Richards; Joel S. Schuman; William K. Scott; Kuldev Singh; Arthur J. Sit; Douglas Vollrath; Robert Weinreb; Gadi Wollstein; Donald J. Zack; Kang Zhang; Margaret A. Pericak-Vance; Jonathan L. Haines; Louis R. Pasquale; Janey L. Wiggs; R. Rand Allingham; Allison E. Ashley-Koch; Michael A. Hauser
TAGS: glaucoma, dna, genes, open-angle glaucoma, copy number polymorphism
Invest. Ophthalmol. Vis. Sci.. 2014; 55(12):8251-8258. doi: 10.1167/iovs.14-15712

Genetics March 2013

Targeted Sequencing of 179 Genes Associated with Hereditary Retinal Dystrophies and 10 Candidate Genes Identifies Novel and Known Mutations in Patients with Various Retinal Diseases

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Xuejuan Chen; Kanxing Zhao; Xunlun Sheng; Yang Li; Xiang Gao; Xiumei Zhang; Xiaoli Kang; Xinyuan Pan; Yuan Liu; Chao Jiang; Houxia Shi; Xue Chen; Weining Rong; Li Jia Chen; Tim Yuk Yau Lai; Yani Liu; Xiuying Wang; Songtao Yuan; Qinghuai Liu; Douglas Vollrath; Chi Pui Pang; Chen Zhao
TAGS: mutation, family, genes, recurrence, retinal diseases, candidate disease gene, massively-parallel genome sequencing, hereditary retinal dystrophy
Invest. Ophthalmol. Vis. Sci.. 2013; 54(3):2186-2197. doi: 10.1167/iovs.12-10967

Includes: Supplemental Content

Genetics July 2012

Genome-Wide Analysis of Central Corneal Thickness in Primary Open-Angle Glaucoma Cases in the NEIGHBOR and GLAUGEN Consortia

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Megan Ulmer; Jun Li; Brian L. Yaspan; Ayse Bilge Ozel; Julia E. Richards; Sayoko E. Moroi; Felicia Hawthorne; Donald L. Budenz; David S. Friedman; Douglas Gaasterland; Jonathan Haines; Jae H. Kang; Richard Lee; Paul Lichter; Yutao Liu; Louis R. Pasquale; Margaret Pericak-Vance; Anthony Realini; Joel S. Schuman; Kuldev Singh; Douglas Vollrath; Robert Weinreb; Gadi Wollstein; Donald J. Zack; Kang Zhang; Terri Young; R. Rand Allingham; Janey L. Wiggs; Allison Ashley-Koch; Michael A. Hauser
TAGS: open-angle glaucoma, cornea, genome-wide association study
Invest. Ophthalmol. Vis. Sci.. 2012; 53(8):4468-4474. doi: 10.1167/iovs.12-9784

Includes: Supplemental Content

Retina April 2012

Tyrosine-Mutant AAV8 Delivery of Human MERTK Provides Long-Term Retinal Preservation in RCS Rats

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Wen-Tao Deng; Astra Dinculescu; Qiuhong Li; Sanford L. Boye; Jie Li; Marina S. Gorbatyuk; Jijing Pang; Vince A. Chiodo; Michael T. Matthes; Douglas Yasumura; Li Liu; Fowzan S. Alkuraya; Kang Zhang; Douglas Vollrath; Matthew M. LaVail; William W. Hauswirth
TAGS: photoreceptors, eye, rats, retina, tyrosine, mertk gene, spatial vectors, did not receive therapy or drug
Invest. Ophthalmol. Vis. Sci.. 2012; 53(4):1895-1904. doi: 10.1167/iovs.11-8831

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Amyloid Fibril Formation By The Olfactomedin Domain Of Myocilin

Raquel L. Lieberman; Susan D. Orwig; Christopher W. Perry; Laura Y. Kim; Katherine C. Turnage; Rong Zhang; Douglas Vollrath; Ingeborg Schmidt-Krey

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):6317. doi:

Genetics June 2011

An ENU-Induced Mutation in the Mertk Gene ( Mertk nmf12 ) Leads to a Slow Form of Retinal Degeneration

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Dennis M. Maddox; Wanda L. Hicks; Douglas Vollrath; Matthew M. LaVail; Jürgen K. Naggert; Patsy M. Nishina
TAGS: tumor necrosis factors, mutation, retinal degeneration, mice, mertk gene
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4703-4709. doi: 10.1167/iovs.10-7077

ARVO Annual Meeting Abstract April 2011

mTOR-Mediated Dedifferentiation of the RPE Initiates Photoreceptor Degeneration

Douglas Vollrath; Chen Zhao; Douglas Yasumura; Xiyan Li; Michael Matthes; Michael Snyder; Dean Bok; Joshua Dunaief; Matthew LaVail

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):4785. doi:

Retina March 2011

Generation of Cre Transgenic Mice with Postnatal RPE-Specific Ocular Expression

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Jared Iacovelli; Chen Zhao; Natalie Wolkow; Peter Veldman; Kandace Gollomp; Pallavi Ojha; Nina Lukinova; Ayala King; Leonard Feiner; Noriko Esumi; Donald J. Zack; Eric A. Pierce; Douglas Vollrath; Joshua L. Dunaief
TAGS: polymerase chain reaction, dna, electroretinography, fluorescent antibody technique, mice, transgenic, eye, mice, retina
Invest. Ophthalmol. Vis. Sci.. 2011; 52(3):1378-1383. doi: 10.1167/iovs.10-6347

Retinal Cell Biology May 2009

Mertk Drives Myosin II Redistribution during Retinal Pigment Epithelial Phagocytosis

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David J. Strick; Wei Feng; Douglas Vollrath
TAGS: epithelium, myosin type ii, phagocytosis, pigment, antibodies, ingestion, rna, small interfering, mertk gene, retinal pigment epithelium, retinal pigment cell
Invest. Ophthalmol. Vis. Sci.. 2009; 50(5):2427-2435. doi: 10.1167/iovs.08-3058

Retina June 2005

φC31 Integrase Confers Genomic Integration and Long-Term Transgene Expression in Rat Retina

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Thomas W. Chalberg; Hilary L. Genise; Douglas Vollrath; Michele P. Calos
TAGS: plasmids, dna, electroporation, genome, integrase, transgenes, eye, retina
Invest. Ophthalmol. Vis. Sci.. 2005; 46(6):2140-2146. doi: 10.1167/iovs.04-1252

Retina May 2004

MERTK Arginine-844-Cysteine in a Patient with Severe Rod–Cone Dystrophy: Loss of Mutant Protein Function in Transfected Cells

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Christina L. McHenry; Yuhui Liu; Wei Feng; Anita R. Nair; Kecia L. Feathers; Xiaoling Ding; Andreas Gal; Douglas Vollrath; Paul A. Sieving; Debra A. Thompson
TAGS: arginine, cysteine, retinitis pigmentosa, proteins, mertk gene, mutant proteins
Invest. Ophthalmol. Vis. Sci.. 2004; 45(5):1456-1463. doi: 10.1167/iovs.03-0909

Retinal Cell Biology February 2003

An RCS-Like Retinal Dystrophy Phenotype in Mer Knockout Mice

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Jacque L. Duncan; Matthew M. LaVail; Douglas Yasumura; Michael T. Matthes; Haidong Yang; Nikolaus Trautmann; Aimee V. Chappelow; Wei Feng; H. Shelton Earp; Glenn K. Matsushima; Douglas Vollrath
TAGS: phenotype, mutation, cell nucleus, mice, knockout, retinal degeneration, rhodopsin, mice, rats, retina, tissue degeneration, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2003; 44(2):826-838. doi: 10.1167/iovs.02-0438

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Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Rebalancing RPE energy metabolism slows retinal degeneration

Knockout of Tsc1 gene in RPE cells mimics the phenotypes of AMD

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

An Expression Quantitative Trait Locus Modifies Mertk -Associated Retinal Degeneration

Alteration of retinal pigment epithelium metabolism mediates retinal degeneration

DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

Targeted Sequencing of 179 Genes Associated with Hereditary Retinal Dystrophies and 10 Candidate Genes Identifies Novel and Known Mutations in Patients with Various Retinal Diseases

Genome-Wide Analysis of Central Corneal Thickness in Primary Open-Angle Glaucoma Cases in the NEIGHBOR and GLAUGEN Consortia

Tyrosine-Mutant AAV8 Delivery of Human MERTK Provides Long-Term Retinal Preservation in RCS Rats

Amyloid Fibril Formation By The Olfactomedin Domain Of Myocilin

An ENU-Induced Mutation in the Mertk Gene ( Mertk nmf12 ) Leads to a Slow Form of Retinal Degeneration

mTOR-Mediated Dedifferentiation of the RPE Initiates Photoreceptor Degeneration

Generation of Cre Transgenic Mice with Postnatal RPE-Specific Ocular Expression

Mertk Drives Myosin II Redistribution during Retinal Pigment Epithelial Phagocytosis

φC31 Integrase Confers Genomic Integration and Long-Term Transgene Expression in Rat Retina

MERTK Arginine-844-Cysteine in a Patient with Severe Rod–Cone Dystrophy: Loss of Mutant Protein Function in Transfected Cells

An RCS-Like Retinal Dystrophy Phenotype in Mer Knockout Mice

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