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Genetics February 2021

The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans

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Brian S. Cole; Harini V. Gudiseva; Maxwell Pistilli; Rebecca Salowe; Caitlin P. McHugh; Michael C. Zody; Venkata R. M. Chavali; Gui Shuang Ying; Jason H. Moore; Joan M. O'Brien
TAGS: african american, genetics, glaucoma, open-angle glaucoma, risk factors, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2021; 62(2):28. doi: https://doi.org/10.1167/iovs.62.2.28

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Retinal pigment epithelial cells “bulk up” when they “pump iron”: lipid and endolysosome accumulation with mechanistic connection to macular degeneration

Kevin Zhang; Bailey Baumann; Ahab Alnemri; Ying Song; Venkata R M Chavali; Claire H Mitchell; Joshua L Dunaief

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1422. doi:

ARVO Annual Meeting Abstract June 2020

Characterizing molecular signatures of induced pluripotent stem cell derived retinal ganglion cells using single cell sequencing

Harini V Gudiseva; Naqi Haider; Jason Mills; Venkata R M Chavali; Joan M O'Brien

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2516. doi:

ARVO Annual Meeting Abstract June 2020

Induced pluripotent stem cell derived retinal ganglion cells as in vitro model to study molecular pathobiology in Glaucoma.

Venkata R M Chavali; Jie He; Sonika Rathi; Jason Mills; Claire H Mitchell; Joan M O'Brien

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3796. doi:

ARVO Annual Meeting Abstract June 2020

Potential role of mast cells in the pathology of L-ORD

Donita Garland; Anil Kumar Chekuri; Venkata R M Chavali; John Suk; Shyamanga Borooah; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4427. doi:

ARVO Annual Meeting Abstract July 2019

Hepatic Lipase C knockout mouse has diminished ERGs and Bruch’s lipid deposits

Venkata Ramana Murthy Chavali; Naqi Haider; Brent A. Bell; Ying Song; Joshua L Dunaief

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1343. doi:

ARVO Annual Meeting Abstract July 2019

Whole genome methylation profiling of retinal pigment epithelium reveals differential methylation and gene expression associated with AMD

Louise Frances Porter; Neil Saptarshi; Yongxiang Fang; Sonika Rathi; Anneke I Den Hollander; Eiko de Jong; Simon Clark; Paul N Bishop; Timothy W Olsen; Triantafillos Liloglu; Venkata Ramana Murthy Chavali; Luminita Paraoan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4247. doi:

ARVO Annual Meeting Abstract July 2019

HTRA1 is increased in Bruch's membrane/choroid in a mouse model of L-ORD

Donita Garland; Anil Kumar Chekuri; Venkata Ramana Murthy Chavali; John Suk; Shyamanga Borooah; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4897. doi:

ARVO Annual Meeting Abstract July 2019

Characterizing two novel mouse models of Ctrp5/C1qtnf5 to understand disease mechanism in late-onset retinal degeneration.

Shyamanga Borooah; Marina voronchikhina; Anil Kumar Chekuri; Venkata Ramana Murthy Chavali; John Suk; Akhila Alapati; Dirk-Uwe G Bartsch; Naheed W Khan; Monica M Jablonski; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):5030. doi:

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: open-angle glaucoma, risk factors, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2018; 59(5):1751-1759. doi: https://doi.org/10.1167/iovs.17-23277

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Characterization of the lipid efflux pathways in RPE

Venkata R M Chavali; Fiona La; Naqi Haider; Daniel J Rader; Nicholas N Lyssenko

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1052. doi:

ARVO Annual Meeting Abstract June 2017

Quality Control Analysis of Genotyping Data in the Primary Open-Angle African American Glaucoma Genetics Study

Venkata H Gudiseva; David Collins; Jie He; Naira Khachatryan; Roy Lee; Laura O'Keefe; Venkata R M Chavali; Victoria Addis; Amanda Lehman; Eydie G Miller-Ellis; PRITHVI SANKAR; Joan M O'Brien

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2118. doi:

ARVO Annual Meeting Abstract June 2017

Association of single nucleotide polymorphisms (SNPs) downstream of Transmembrane and Coiled-Coil Domains 1 ( TMCO1 ) with primary open angle glaucoma (POAG) in African-Americans (AA)

Lana Verkuil; Ian Danford; Maxwell Pistilli; David Collins; Venkata H Gudiseva; Benjamin Trachtman; Jie He; Meera Ramakrishnan; Venkata R M Chavali; Joan M O'Brien

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2119. doi:

ARVO Annual Meeting Abstract September 2016

Association of missense mutations in the mitochondrial MT-CO1 gene with Primary Open-Angle Glaucoma (POAG) in African-Americans.

David W Collins; Harini V Gudiseva; Venkata R M Chavali; Benjamin T Trachtman; Meera Ramakrishnan; William Merritt; Maxwell Pistilli; Amanda Lehman; Eydie G Miller-Ellis; PRITHVI SANKAR; Joan M O'Brien

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):821. doi:

ARVO Annual Meeting Abstract September 2016

Zebrafish and Mouse Models with Mutations in the Novel Gene ASRGL1 Develop Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Pooja Biswas; Venkata R M Chavali; Naheed W Khan; John Suk; Melissa Homsher; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3149. doi:

ARVO Annual Meeting Abstract September 2016

Role of Complement-1q Tumor Necrosis Factor Related Protein 5 (CTRP5/C1QTNF5) in Late-Onset Retinal Degeneration (L-ORD) Pathology

Shruthi Karnam; Venkata R M Chavali; G Bhanuprakash Reddy; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3181. doi:

ARVO Annual Meeting Abstract September 2016

Profiling of noncoding RNAs in age-related macular degeneration

Venkata R M Chavali; Anita Bowman; Harini V Gudiseva

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4793. doi:

ARVO Annual Meeting Abstract June 2015

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Pooja Biswas; Venkata R M Chavali; Giulia Agnello; Jacque L Duncan; Muhammad Asif Naeem; Sheikh Riazuddin; James Fielding Hejtmancik; George Georgiou; S Amer Riazuddin; Radha Ayyagari; Genetics

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4348. doi:

ARVO Annual Meeting Abstract June 2015

Transcriptome-wide analysis of gene expression in normal and age-related macular degeneration (AMD)

Venkata R M Chavali; Harini Venkata Gudiseva; Anita Bowman; David W Collins; Ahmad M Khalil; Joan M O'Brien; Dwight Stambolian

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):816. doi:

ARVO Annual Meeting Abstract June 2015

Presence of rd8 mutation does not effect the Lete-Onset Retinal Degeneration (L-ORD) phenotype in C57BL/6 mice with S163R Ctrp5/C1qtnf5 mutation

Radha Ayyagari; Bhubanananda Sahu; Akhila Alapati; John Suk; Dirk-Uwe G Bartsch; Monica M Jablonski; Venkata R M Chavali

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2874. doi:

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The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans

Retinal pigment epithelial cells “bulk up” when they “pump iron”: lipid and endolysosome accumulation with mechanistic connection to macular degeneration

Characterizing molecular signatures of induced pluripotent stem cell derived retinal ganglion cells using single cell sequencing

Induced pluripotent stem cell derived retinal ganglion cells as in vitro model to study molecular pathobiology in Glaucoma.

Potential role of mast cells in the pathology of L-ORD

Hepatic Lipase C knockout mouse has diminished ERGs and Bruch’s lipid deposits

Whole genome methylation profiling of retinal pigment epithelium reveals differential methylation and gene expression associated with AMD

HTRA1 is increased in Bruch's membrane/choroid in a mouse model of L-ORD

Characterizing two novel mouse models of Ctrp5/C1qtnf5 to understand disease mechanism in late-onset retinal degeneration.

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

Characterization of the lipid efflux pathways in RPE

Quality Control Analysis of Genotyping Data in the Primary Open-Angle African American Glaucoma Genetics Study

Association of single nucleotide polymorphisms (SNPs) downstream of Transmembrane and Coiled-Coil Domains 1 ( TMCO1 ) with primary open angle glaucoma (POAG) in African-Americans (AA)

Association of missense mutations in the mitochondrial MT-CO1 gene with Primary Open-Angle Glaucoma (POAG) in African-Americans.

Zebrafish and Mouse Models with Mutations in the Novel Gene ASRGL1 Develop Retinal Degeneration (RD) Recapitulating the Human Phenotype.

Role of Complement-1q Tumor Necrosis Factor Related Protein 5 (CTRP5/C1QTNF5) in Late-Onset Retinal Degeneration (L-ORD) Pathology

Profiling of noncoding RNAs in age-related macular degeneration

Identification of a mutation in ASRGL1 as the underlying cause of early-onset recessive Retinal Degeneration (RD).

Transcriptome-wide analysis of gene expression in normal and age-related macular degeneration (AMD)

Presence of rd8 mutation does not effect the Lete-Onset Retinal Degeneration (L-ORD) phenotype in C57BL/6 mice with S163R Ctrp5/C1qtnf5 mutation

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