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ARVO Annual Meeting Abstract June 2024

Bi-Allelic TCF4 Trinucleotide Repeat Expansions in Fuchs’ Endothelial Corneal Dystrophy

Danielle Block; Jiaxin Hu; Xin Gong; David Corey; Nick Hogan; Chao Xing; Vinod V Mootha

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5795.

ARVO Annual Meeting Abstract June 2024

Whole Genome Sequencing of an Asian Multi-ethnic Fuchs’ Endothelial Corneal Dystrophy Cohort

Bjorn Kaijun Betzler; Dawn Neo; Jackie Sim; Zheng Li; Xin Gong; Vinod V Mootha; Chiea Chuen Khor; Jodhbir S Mehta

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5778.

Cornea May 2023

The TCF4 Trinucleotide Repeat Expansion of Fuchs’ Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye

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Jiaxin Hu; Xin Gong; Samantha T. Johnson; David R. Corey; V. Vinod Mootha
TAGS: body tissue, cornea, corneal endothelium, corneal stroma, endothelium, eye, hereditary corneal dystrophy, rna, trabecular meshwork, trinucleotide repeat expansion
Invest. Ophthalmol. Vis. Sci.. 2023; 64(5):16. https://doi.org/10.1167/iovs.64.5.16

Includes: Supplemental Content

Cornea April 2023

Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-Onset Fuchs’ Endothelial Corneal Dystrophy

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Brian C. Leonard; Sangwan Park; Soohyun Kim; Laura J. Young; Iman Jalilian; Krista Cosert; Xunzhi Zhang; Jessica M. Skeie; Hanna Shevalye; Nayeli Echeverria; Vanessa Rozo; Xin Gong; Chao Xing; Christopher J. Murphy; Mark A. Greiner; V. Vinod Mootha; Vijay Krishna Raghunathan; Sara M. Thomasy
TAGS: cornea, endothelium, hereditary corneal dystrophy, mice, signs and symptoms, proteins
Invest. Ophthalmol. Vis. Sci.. 2023; 64(4):22. https://doi.org/10.1167/iovs.64.4.22

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Classification of microcornea among patients with abnormalities of ocular development

Michael Simmons; Edward Wen; Avinash Mahindrakar; Vinod V Mootha

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3622 – A0187.

Articles August 2020

Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for Fuchs’ Endothelial Corneal Dystrophy

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Ziye Rong; Xin Gong; John D. Hulleman; David R. Corey; V. Vinod Mootha
TAGS: endothelium, hereditary corneal dystrophy, rna, dna, endothelial cells
Trans. Vis. Sci. Tech.. 2020; 9(9):47. https://doi.org/10.1167/tvst.9.9.47

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Progressive Alterations in Subbasal Nerve Plexus in Fuchs’ Endothelial Corneal Dystrophy Patients with TCF4 Triplet Repeat Expansion

Matthew Gillings; Xin Gong; Danielle Robertson; Matthew Petroll; Vinod V Mootha

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3610.

Cornea September 2019

Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy

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Ziye Rong; Jiaxin Hu; David R. Corey; V. Vinod Mootha
TAGS: proteins, rna, cornea, body tissue
Invest. Ophthalmol. Vis. Sci.. 2019; 60(12):3980-3991. https://doi.org/10.1167/iovs.19-27641

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Trinucleotide Repeat Expansion Length as a Predictor of the Clinical Progression of Fuchs Endothelial Corneal Dystrophy

Viridiana Kocaba; Yu Qiang Soh; Gary Peh Swee; Hla Myint Htoon; Xin Gong; Vinod V Mootha; Eranga Nishanthie Vithana; Jodhbir S Mehta

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3875.

ARVO Annual Meeting Abstract July 2019

Duplex RNAs and ss-siRNAs Block RNA Foci Associated with Fuchs’ Corneal Endothelial Dystrophy

Vinod V Mootha; Jiaxin Hu; Xiulong Shen; Frank Rigo; Thahza Prakash; David Corey

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3879.

Cornea August 2018

Instability of TCF4 Triplet Repeat Expansion With Parent–Child Transmission in Fuchs' Endothelial Corneal Dystrophy

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Joanna S. Saade; Chao Xing; Xin Gong; Zhengyang Zhou; V. Vinod Mootha
TAGS: alleles, child, endothelium, hereditary corneal dystrophy, parent, trinucleotide repeats
Invest. Ophthalmol. Vis. Sci.. 2018; 59(10):4065-4070. https://doi.org/10.1167/iovs.18-24119

Includes: Supplemental Content

Cornea September 2017

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy

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V. Vinod Mootha; Brock Hansen; Ziye Rong; Pradeep P. Mammen; Zhengyang Zhou; Chao Xing; Xin Gong
TAGS: endothelium, hereditary corneal dystrophy, myotonic dystrophy, rna, trinucleotide repeats, endothelial cells, cornea
Invest. Ophthalmol. Vis. Sci.. 2017; 58(11):4579-4585. https://doi.org/10.1167/iovs.17-22350

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Ophthalmic Manifestations of X-Linked Reticulate Pigmentary Disorder

Ahmed F. Omar; Vinod V Mootha; Stefano Pensiero

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4385.

Cornea March 2015

TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy

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V. Vinod Mootha; Imran Hussain; Khrishen Cunnusamy; Eric Graham; Xin Gong; Sudha Neelam; Chao Xing; Ralf Kittler; W. Matthew Petroll
TAGS: endothelium, hereditary corneal dystrophy, rna, rna, nuclear, trinucleotide repeats, cornea
Invest. Ophthalmol. Vis. Sci.. 2015; 56(3):2003-2011. https://doi.org/10.1167/iovs.14-16222

Includes: Supplemental Content

Cornea November 2014

Transethnic Replication of Association of CTG18.1 Repeat Expansion of TCF4 Gene With Fuchs' Corneal Dystrophy in Chinese Implies Common Causal Variant

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Chao Xing; Xin Gong; Imran Hussain; Chiea-Chuen Khor; Donald T. H. Tan; Tin Aung; Jodhbir S. Mehta; Eranga N. Vithana; V. Vinod Mootha
TAGS: alleles, chinese (other dialects), chinese people, genes, hereditary corneal dystrophy, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7073-7078. https://doi.org/10.1167/iovs.14-15390

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs’ Endothelial Corneal Dystrophy

Ahmed Z Soliman; Xin Gong; Imran Hussain; Chao Xing; Vinod V Mootha

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1005.

ARVO Annual Meeting Abstract April 2014

Triplet repeat primed PCR assay to genotype the CTG18.1 trinucleotide repeat polymorphism in TCF4

Imran Hussain; Xin Gong; Vinod V Mootha

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1025.

Cornea January 2014

Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy

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V. Vinod Mootha; Xin Gong; Hung-Chih Ku; Chao Xing
TAGS: alleles, endothelium, family, genes, hereditary corneal dystrophy, polymerase chain reaction, trinucleotide repeat expansion, polymorphism, dominant autosomal hereditary disorder with incomplete penetrance, genotype determination
Invest. Ophthalmol. Vis. Sci.. 2014; 55(1):33-42. https://doi.org/10.1167/iovs.13-12611

Includes: Supplemental Content

Cornea August 2013

Association of Smoking and Other Risk Factors With Fuchs' Endothelial Corneal Dystrophy Severity and Corneal Thickness

PDF

Xiaolin Zhang; Robert P. Igo, Jr; Jeremy Fondran; V. Vinod Mootha; Matt Oliva; Kristin Hammersmith; Alan Sugar; Jonathan H. Lass; Sudha K. Iyengar
TAGS: cornea, diabetes mellitus, diabetes mellitus, type 2, endothelium, eye, hereditary corneal dystrophy, risk factors, smoking, universities, consultants
Invest. Ophthalmol. Vis. Sci.. 2013; 54(8):5829-5835. https://doi.org/10.1167/iovs.13-11918

ARVO Annual Meeting Abstract June 2013

Ocular Manifestations of X-linked Reticulate Pigmentary Disorder

Kruti Dajee; H Cavanagh; Nick Hogan; Linder Baker; Andrew Zinn; Vinod Mootha

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):4722.

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Bi-Allelic TCF4 Trinucleotide Repeat Expansions in Fuchs’ Endothelial Corneal Dystrophy

Whole Genome Sequencing of an Asian Multi-ethnic Fuchs’ Endothelial Corneal Dystrophy Cohort

The TCF4 Trinucleotide Repeat Expansion of Fuchs’ Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye

Mice Deficient in TAZ (Wwtr1) Demonstrate Clinical Features of Late-Onset Fuchs’ Endothelial Corneal Dystrophy

Classification of microcornea among patients with abnormalities of ocular development

Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for Fuchs’ Endothelial Corneal Dystrophy

Progressive Alterations in Subbasal Nerve Plexus in Fuchs’ Endothelial Corneal Dystrophy Patients with TCF4 Triplet Repeat Expansion

Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy

Trinucleotide Repeat Expansion Length as a Predictor of the Clinical Progression of Fuchs Endothelial Corneal Dystrophy

Duplex RNAs and ss-siRNAs Block RNA Foci Associated with Fuchs’ Corneal Endothelial Dystrophy

Instability of TCF4 Triplet Repeat Expansion With Parent–Child Transmission in Fuchs' Endothelial Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy

Ophthalmic Manifestations of X-Linked Reticulate Pigmentary Disorder

TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy

Transethnic Replication of Association of CTG18.1 Repeat Expansion of TCF4 Gene With Fuchs' Corneal Dystrophy in Chinese Implies Common Causal Variant

CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs’ Endothelial Corneal Dystrophy

Triplet repeat primed PCR assay to genotype the CTG18.1 trinucleotide repeat polymorphism in TCF4

Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy

Association of Smoking and Other Risk Factors With Fuchs' Endothelial Corneal Dystrophy Severity and Corneal Thickness

Ocular Manifestations of X-linked Reticulate Pigmentary Disorder

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