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ARVO Annual Meeting Abstract June 2025

Whole Exome Sequencing Identifies Novel and Known Mutations in 15 Pakistani Families with Inherited Retinal Dystrophies

Mohd Hussain Hussain Shah; Xiaodong Jiao; Shiwali Goyal; Sheikh Riazuddin; S Amer Riazuddin; Bushra Rauf; Muhammad Asif Naeem; Radha Ayyagari; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1826.

ARVO Annual Meeting Abstract June 2025

Exploring the role of protocadherin-15 in the murine retina

Mary Hackbarth; Saima Riazuddin; Zubair Ahmed

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):1189.

ARVO Annual Meeting Abstract June 2025

Age Estimation of TMEM216 c.-69G>A and c.-69G>T Mutations in Pakistani and African Populations Affected by Non-Syndromic Retinitis Pigmentosa

Shiwali Goyal; Xiaodong Jiao; Pooja Biswas; Siying Lin; Samantha Malka; Mukhtar Ullah; Mathieu Quinodoz; S Amer Riazuddin; Gavin Arno; Muhammad Ansar; Carlo Rivolta; Radha Ayyagari; Andrew Webster; James Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2025; 66(8):3137.

ARVO Annual Meeting Abstract June 2024

Dysregulated molecular networks in Cib2 knockout mice mimic human age-related macular degeneration

Mary Hackbarth; Saumil Sethna; Yang Song; Saima Riazuddin; Ronna Hertzano; Zubair Ahmed

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):625.

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.

ARVO Annual Meeting Abstract June 2022

Regulation of Protocadherin-15 function in the outer retina by alternative splicing of cytoplasmic domain

Sehar Riaz; Saumil Sethna; Saima Riazuddin; Livia Carvalho; Zubair Ahmed

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1934 – F0352.

Lens December 2021

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

PDF

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

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.

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.

Cornea March 2021

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

PDF

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

Retina November 2019

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

PDF

Shakeel A. Sheikh; Robert A. Sisk; Cara R. Schiavon; Yar M. Waryah; Muhammad A. Usmani; David H. Steel; John A. Sayer; Ashok K. Narsani; Robert B. Hufnagel; Saima Riazuddin; Richard A. Kahn; Ali M. Waryah; Zubair M. Ahmed
TAGS: autosomal recessive inheritance, family, homozygote, mutation, phenotype, progressive cone-rod dystrophy, proteins, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2019; 60(14):4811-4819. https://doi.org/10.1167/iovs.19-27263

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

CIB2 is essential for autophagy in the retinal pigment epithelium and visual function

Zubair Ahmed; Saumil Sethna; Patrick A. Scott; Arnaud P. Giese; Todd Duncan; Sheikh Riazuddin; T Michael Redmond; Steven L Bernstein; Saima Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3868.

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

PDF

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

PDF

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

PDF

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

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.

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Whole Exome Sequencing Identifies Novel and Known Mutations in 15 Pakistani Families with Inherited Retinal Dystrophies

Exploring the role of protocadherin-15 in the murine retina

Age Estimation of TMEM216 c.-69G>A and c.-69G>T Mutations in Pakistani and African Populations Affected by Non-Syndromic Retinitis Pigmentosa

Dysregulated molecular networks in Cib2 knockout mice mimic human age-related macular degeneration

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.

Regulation of Protocadherin-15 function in the outer retina by alternative splicing of cytoplasmic domain

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

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

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

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

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

CIB2 is essential for autophagy in the retinal pigment epithelium and visual function

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

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

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