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Select item 95442091.

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills

Mol Genet Genomic Med. 2022 Oct; 10(10): e2023. Published online 2022 Aug 19. doi: 10.1002/mgg3.2023

PMCID:: PMC9544209

Article PDF–2.1M

Select item 83924472.

Mitochondrial Dysfunction and Mitophagy in Fuchs Endothelial Corneal Dystrophy

Varun Kumar, Ula V. Jurkunas

Cells. 2021 Aug; 10(8): 1888. Published online 2021 Jul 26. doi: 10.3390/cells10081888

PMCID:: PMC8392447

Article PDF–784K

Select item 78143543.

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

Timothy T. Xu, Yi-Ju Li, Natalie A. Afshari, Ross A. Aleff, Tommy A. Rinkoski, Sanjay V. Patel, Leo J. Maguire, Albert O. Edwards, William L. Brown, Michael P. Fautsch, Eric D. Wieben, Keith H. Baratz

Invest Ophthalmol Vis Sci. 2021 Jan; 62(1): 17. Published online 2021 Jan 14. doi: 10.1167/iovs.62.1.17

PMCID:: PMC7814354

Article PDF–951K

Select item 74256904.

Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies

Wenlin Zhang, Ricardo Frausto, Doug D. Chung, Christopher G. Griffis, Liyo Kao, Angela Chen, Rustam Azimov, Alapakkam P. Sampath, Ira Kurtz, Anthony J. Aldave

Invest Ophthalmol Vis Sci. 2020 Jul; 61(8): 39. Published online 2020 Jul 28. doi: 10.1167/iovs.61.8.39

PMCID:: PMC7425690

Article PDF–2.0M

Select item 69907285.

Association of Genetic Variation With Keratoconus

Bennet J. McComish, Srujana Sahebjada, Yelena Bykhovskaya, Colin E. Willoughby, Andrea J. Richardson, Abi Tenen, Jac C. Charlesworth, Stuart MacGregor, Paul Mitchell, Sionne E. M. Lucas, Richard A. Mills, David A. Mackey, Xiaohui Li, Jie Jin Wang, Richard A. Jensen, Jerome I. Rotter, Kent D. Taylor, Alex W. Hewitt, Yaron S. Rabinowitz, Paul N. Baird, Jamie E. Craig, Kathryn P. Burdon

JAMA Ophthalmol. 2020 Feb; 138(2): 174–181. Published online 2019 Dec 19. doi: 10.1001/jamaophthalmol.2019.5293

PMCID:: PMC6990728

Article

Select item 65540406.

Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients with Fuchs Endothelial Corneal Dystrophy

Naoki Okumura, Ryousuke Hayashi, Masakazu Nakano, Kei Tashiro, Kengo Yoshii, Ross Aleff, Malinda Butz, Edward W. Highsmith, Eric D. Wieben, Michael P. Fautsch, Keith H. Baratz, Yuya Komori, Emi Ueda, Makiko Nakahara, Julia Weller, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Noriko Koizumi

Cornea. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: Cornea. 2019 Jul; 38(7): 799–805. doi: 10.1097/ICO.0000000000001952

PMCID:: PMC6554040

Article PDF–233K

Select item 63471657.

Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs’ Endothelial Corneal Dystrophy

Yu Qiang Soh, Gary Peh Swee Lim, Hla Myint Htoon, Xin Gong, V. Vinod Mootha, Eranga Nishanthie Vithana, Viridiana Kocaba, Jodhbir Singh Mehta

PLoS One. 2019; 14(1): e0210996. Published online 2019 Jan 25. doi: 10.1371/journal.pone.0210996

PMCID:: PMC6347165

Article PDF–1.6M

Select item 61429448.

Association of the Gutta-Induced Microenvironment With Corneal Endothelial Cell Behavior and Demise in Fuchs Endothelial Corneal Dystrophy

Viridiana Kocaba, Kishore Reddy Katikireddy, Ilene Gipson, Marianne O. Price, Francis W. Price, Ula V. Jurkunas

JAMA Ophthalmol. 2018 Aug; 136(8): 886–892. Published online 2018 May 31. doi: 10.1001/jamaophthalmol.2018.2031

PMCID:: PMC6142944

Article

Select item 60888029.

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

Joanna S. Saade, Chao Xing, Xin Gong, Zhengyang Zhou, V. Vinod Mootha

Invest Ophthalmol Vis Sci. 2018 Aug; 59(10): 4065–4070. doi: 10.1167/iovs.18-24119

PMCID:: PMC6088802

Article PDF–366K

Select item 556837110.

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs’ endothelial corneal dystrophy in Australian cases

Abraham Kuot, Alex W. Hewitt, Grant R. Snibson, Emmanuelle Souzeau, Richard Mills, Jamie E. Craig, Kathryn P. Burdon, Shiwani Sharma

PLoS One. 2017; 12(8): e0183719. Published online 2017 Aug 23. doi: 10.1371/journal.pone.0183719

PMCID:: PMC5568371

Article PDF–2.8M

Select item 537910011.

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

Natalie A. Afshari, Robert P. Igo, Jr, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V. Lakshmi Pulagam, Steven Dunn, John F. Stamler, Barbara J. Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jr, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass, Yi-Ju Li, Sudha K. Iyengar

Nat Commun. 2017; 8: 14898. Published online 2017 Mar 30. doi: 10.1038/ncomms14898

PMCID:: PMC5379100

Article PDF–454K

Select item 513812612.

CTG18.1 Expansion in TCF4 increases likelihood of transplantation in Fuchs Corneal Dystrophy

Allen O. Eghrari, Shivakumar Vasanth, Jiangxia Wang, Farnoosh Vahedi, S. Amer Riazuddin, John D. Gottsch

Cornea. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Cornea. 2017 Jan; 36(1): 40–43. doi: 10.1097/ICO.0000000000001049

PMCID:: PMC5138126

Article PDF–349K

Select item 506796113.

MicroRNA-29b over-expression decreases extracellular matrix mRNA and protein production in human corneal endothelial cells

Tetsuya Toyono, Tomohiko Usui, Guadalupe Villarreal, Jr., Laura Kallay, Mario Matthaei, Lucas M M Vianna, Angela Y Zhu, Masahiko Kuroda, Shiro Amano, Albert S. Jun

Cornea. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: Cornea. 2016 Nov; 35(11): 1466–1470. doi: 10.1097/ICO.0000000000000954

PMCID:: PMC5067961

Article PDF–682K

Select item 458802714.

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level

Monika Ołdak, Ewelina Ruszkowska, Monika Udziela, Dominika Oziębło, Ewelina Bińczyk, Aneta Ścieżyńska, Rafał Płoski, Jacek P. Szaflik

Biomed Res Int. 2015; 2015: 640234. Published online 2015 Sep 16. doi: 10.1155/2015/640234

PMCID:: PMC4588027

Article PDF–1.5M

Select item 451594815.

Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy

Shivakumar Vasanth, Allen O. Eghrari, Briana C. Gapsis, Jiangxia Wang, Nicolas F. Haller, Walter J. Stark, Nicholas Katsanis, S. Amer Riazuddin, John D. Gottsch

Invest Ophthalmol Vis Sci. 2015 Jul; 56(8): 4531–4536. Published online 2015 Jul 15. doi: 10.1167/iovs.14-16122

PMCID:: PMC4515948

Article PDF–692K

Select item 447433216.

Association of TCF4 polymorphisms and fuchs’ endothelial dystrophy: a meta-analysis

Dan Li, XiaoYan Peng, HuiYu Sun

BMC Ophthalmol. 2015; 15: 61. Published online 2015 Jun 19. doi: 10.1186/s12886-015-0055-6

PMCID:: PMC4474332

Article PDF–799K

Select item 437354517.

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

V. Vinod Mootha, Imran Hussain, Khrishen Cunnusamy, Eric Graham, Xin Gong, Sudha Neelam, Chao Xing, Ralf Kittler, W. Matthew Petroll

Invest Ophthalmol Vis Sci. 2015 Mar; 56(3): 2003–2011. Published online 2015 Mar 24. doi: 10.1167/iovs.14-16222

PMCID:: PMC4373545

Article PDF–775K

Select item 419231718.

Association of Common Variants in TCF4 and PTPRG with Fuchs' Corneal Dystrophy: A Systematic Review and Meta-Analysis

Lawrence C. M. Lau, Li Ma, Alvin L. Young, Shi Song Rong, Vishal Jhanji, Marten E. Brelen, Chi Pui Pang, Li Jia Chen

PLoS One. 2014; 9(10): e109142. Published online 2014 Oct 9. doi: 10.1371/journal.pone.0109142

PMCID:: PMC4192317

Article PDF–1.0M

Select item 415988219.

Polymorphism of the Flap Endonuclease 1 Gene in Keratoconus and Fuchs Endothelial Corneal Dystrophy

Katarzyna A. Wojcik, Ewelina Synowiec, Piotr Polakowski, Sylwester Głowacki, Justyna Izdebska, Sophie Lloyd, Dieter Galea, Janusz Blasiak, Jerzy Szaflik, Jacek P. Szaflik

Int J Mol Sci. 2014 Aug; 15(8): 14786–14802. Published online 2014 Aug 22. doi: 10.3390/ijms150814786

PMCID:: PMC4159882

Article PDF–995K

Select item 385963020.

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy

Mollie A. Minear, Yi-Ju Li, Jacqueline Rimmler, Elmer Balajonda, Shera Watson, R. Rand Allingham, Michael A. Hauser, Gordon K. Klintworth, Natalie A. Afshari, Simon G. Gregory

Mol Vis. 2013; 19: 2508–2516. Published online 2013 Dec 12.

PMCID:: PMC3859630

Article PDF–889K

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