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ARVO Annual Meeting Abstract June 2024

Cigarette smoke elicits loss of corneal endothelial cells and perturbs ultrastructure of corneal endothelium and Descemet's Membrane

Muhammad Ali; Jessica M. Izzi; Eric K. Hutchinson; James T. Handa; S. Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5793.

ARVO Annual Meeting Abstract June 2024

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Anne Marie Berry; Pooja Biswas; Gavin Arno; Mathieu Quinodoz; Riccardo Sangermano; Jiao Xiaodong; Mukhtar Ullah; Alison J Hardcastle; Kelly A Frazer; James Fielding Hejtmancik; Matteo D'Antonio; S. Amer Riazuddin; Carlo Rivolta; Kinga Maria Bujakowska; Andrew R Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5287.

Lens December 2021

Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts

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Sheldon Rowan; Shuhong Jiang; Sarah G. Francisco; Laura C. D. Pomatto; Zhiwei Ma; Xiaodong Jiao; Maria M. Campos; Sandeep Aryal; Shaili D. Patel; Binapani Mahaling; S. Amer Riazuddin; Elia J. Duh; Salil A. Lachke; J. Fielding Hejtmancik; Rafael de Cabo; Paul G. FitzGerald; Allen Taylor
TAGS: cataract, cataract, senile, lens (device), lens, crystalline, mice
Invest. Ophthalmol. Vis. Sci.. 2021; 62(15):10. https://doi.org/10.1167/iovs.62.15.10

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Identification of causative mutations in ten pedigrees with inherited retinal degeneration by whole genome analysis (WGS)

Berzhan Kurmanov; Pooja Biswas; Bryan Lajoie; Hiroko Matsui; Jason Zhou; S. Amer Riazuddin; Jacque L Duncan; Kelly Frazer; Semyon Kruglyak; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1546.

ARVO Annual Meeting Abstract June 2021

Pluripotent Stem Cell-derived Corneal Endothelial Cells for Donor-Free Keratoplasty

Muhammad Ali; Shahid Y Khan; John Gottsch; Eric Hutchinson; Aisha Khan; S. Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):953.

Cornea March 2021

Cigarette Smoke Triggers Loss of Corneal Endothelial Cells and Disruption of Descemet's Membrane Proteins in Mice

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Muhammad Ali; Shahid Y. Khan; Yura Jang; Chan Hyun Na; C. Conover Talbot, Jr; John D. Gottsch; James T. Handa; S. Amer Riazuddin
TAGS: cigarette smoke, cornea, endothelial cells, mice, proteins, proteome, descemet's membrane, precipitating factors
Invest. Ophthalmol. Vis. Sci.. 2021; 62(3):3. https://doi.org/10.1167/iovs.62.3.3

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

The physiological significance of autophagy in lens morphogenesis

S Amer Riazuddin; Shahid Yar Khan; Muhammad Ali; Firoz Kabir; Chan Hyun Na; Yinghong Ma; Caihong Qiu; Muhammad Asif Naeem; Sheikh Riazuddin; J Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2232.

ARVO Annual Meeting Abstract July 2018

Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

Radha Ayyagari; Pooja Biswas; Angel Soto Hermida; Kari E Branham; Hiroko Matsui; Adda L Villanueva; Amalio Talenti; Akhila Alapati; Aditya Ayyagari Guru; Bonnie Huang; Sheikh Riazuddin; John Heckenlively; Paul Sieving; Jacque L Duncan; S Amer Riazuddin; Kelly A. Frazer

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4468.

ARVO Annual Meeting Abstract July 2018

A homozygous mutation in the novel gene ARFGAP2 is associated with non-syndromic recessive inherited retinal degeneration (IRD).

Pooja Biswas; Anil Kumar Chekuri; Jason Ear; Shyamanga Borooah; Hiroko Matsui; Matteo D'Antonio; Kelly A. Frazer; Sindhura Devalaraja; Shahid Yar Khan; Muhammad Asif Naeem; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; Pradipta Ghosh; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5383.

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: chronic exertional compartment syndrome, proteome, peripheral blood mononuclear cell, cornea, cryopreservation, polymerase chain reaction
Invest. Ophthalmol. Vis. Sci.. 2018; 59(6):2437-2444. https://doi.org/10.1167/iovs.17-22927

Includes: Supplemental Content

Lens January 2018

Proteome Profiling of Developing Murine Lens Through Mass Spectrometry

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Shahid Y. Khan; Muhammad Ali; Firoz Kabir; Santosh Renuse; Chan Hyun Na; C. Conover Talbot, Jr; Sean F. Hackett; S. Amer Riazuddin
TAGS: lens (device), lens, crystalline, mass spectrometry, mice, proteins, proteome
Invest. Ophthalmol. Vis. Sci.. 2018; 59(1):100-107. https://doi.org/10.1167/iovs.17-21601

Includes: Supplemental Content

Cornea December 2017

CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy

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Allen O. Eghrari; Sina Vahedi; Natalie A. Afshari; S. Amer Riazuddin; John D. Gottsch
TAGS: african american, hereditary corneal dystrophy, cohort studies, genetics, self-report, continental population groups
Invest. Ophthalmol. Vis. Sci.. 2017; 58(14):6046-6049. https://doi.org/10.1167/iovs.17-21661

ARVO Annual Meeting Abstract June 2017

CTG18.1 trinucleotride repeat expansion in African-Americans with Fuchs Corneal Dystrophy

Sina Vahedi; Shivakumar Vasanth; S Amer Riazuddin; John Gottsch; Allen O Eghrari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1439.

ARVO Annual Meeting Abstract June 2017

Investigating the Proteome of the ocular lens at multiple developmental time points through mass spectrometry-based protein sequencing

Shahid Yar Khan; Muhammad Ali; Chan-Hyun Na; Akhilesh Pandey; Sean Hackett; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1719.

ARVO Annual Meeting Abstract June 2017

Involvement of the novel gene IFT43 in causing early onset non-syndromic retinal degeneration.

Pooja Biswas; Jacque L. Duncan; Muhammad Ali; Muhammad Asif Naeem; S. Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3821.

ARVO Annual Meeting Abstract June 2017

Investigating the role of pexophagy in the development of the ocular lens and cataractogenesis

Muhammad Ali; Shahid Yar Khan; Firoz Kabir; Sheikh Riazuddin; J. Fielding Hejtmancik; S Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2042.

Genetics May 2017

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

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Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E. Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N. Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A. Sieving; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: family, homozygote, retinal dystrophies, autosomal recessive inheritance, mutation, genetic analysis, genes
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. https://doi.org/10.1167/iovs.17-21424

Includes: Supplemental Content

Genetics April 2017

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

PDF

Jianjun Chen; Qiwei Wang; Patricia E. Cabrera; Zilin Zhong; Wenmin Sun; Xiaodong Jiao; Yabin Chen; Gowthaman Govindarajan; Muhammad Asif Naeem; Shaheen N. Khan; Muhammad Hassaan Ali; Muhammad Zaman Assir; Fawad Ur Rahman; Zaheeruddin A. Qazi; Sheikh Riazuddin; Javed Akram; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: autosomal recessive inheritance, cataract, congenital cataract, family, homozygote, mutation, screening, genes, genetics, molecular
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2207-2217. https://doi.org/10.1167/iovs.17-21469

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family.

Kameron Kishaba; Pooja Biswas; John Suk; Inayat Ullah; Muhammad Asif Naeem; Sheikh Riazuddin; Javed Akram; J. Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3137.

ARVO Annual Meeting Abstract September 2016

Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family.

Aditya A Guru; Pooja Biswas; John Suk; Kameron Kishaba; Inayat Ullah; Muhammad Asif Naeem; Sheikh Riazuddin; S Amer Riazuddin; Radha Ayyagari; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3144.

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Cigarette smoke elicits loss of corneal endothelial cells and perturbs ultrastructure of corneal endothelium and Descemet's Membrane

Identification and evaluation of a non-coding variant located in the 5'-UTR of TMEM216 as an underlying cause of non-syndromic recessive retinal degeneration (RD) in Pakistani families.

Aged Nrf2-Null Mice Develop All Major Types of Age-Related Cataracts

Identification of causative mutations in ten pedigrees with inherited retinal degeneration by whole genome analysis (WGS)

Pluripotent Stem Cell-derived Corneal Endothelial Cells for Donor-Free Keratoplasty

Cigarette Smoke Triggers Loss of Corneal Endothelial Cells and Disruption of Descemet's Membrane Proteins in Mice

The physiological significance of autophagy in lens morphogenesis

Deciphering the genetic architecture of IRD by integrated analysis of 425 whole genomes

A homozygous mutation in the novel gene ARFGAP2 is associated with non-syndromic recessive inherited retinal degeneration (IRD).

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

Proteome Profiling of Developing Murine Lens Through Mass Spectrometry

CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy

CTG18.1 trinucleotride repeat expansion in African-Americans with Fuchs Corneal Dystrophy

Investigating the Proteome of the ocular lens at multiple developmental time points through mass spectrometry-based protein sequencing

Involvement of the novel gene IFT43 in causing early onset non-syndromic retinal degeneration.

Investigating the role of pexophagy in the development of the ocular lens and cataractogenesis

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Exome Analysis Detected a Novel 7.4 kb Deletion in the PRPH2 Gene as the Underlying Cause of Recessive Retinal Degeneration in a Consanguineous Family.

Identification of a novel frame-shift deletion in the CHM gene in a consanguineous family.

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