Publications:

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The roles of autophagy and mitophagy in corneal pathology: current knowledge and future perspectives.

Frontiers In Medicine

Ayilam Ramachandran, Rajalakshmy R; Sanches, Jose Marcos JM; Robertson, Danielle M DM

Publication Date: 2023

Variant appearance in text: FECD: Q455K

PubMed Link: 37153108

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• Main text
• fmed-10-1064938.pdf

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

Investigative Ophthalmology & Visual Science

Leonard, Brian C BC; Park, Sangwan S; Kim, Soohyun S; Young, Laura J LJ; Jalilian, Iman I; Cosert, Krista K; Zhang, Xunzhi X; Skeie, Jessica M JM; Shevalye, Hanna H; Echeverria, Nayeli N; Rozo, Vanessa V; Gong, Xin X; Xing, Chao C; Murphy, Christopher J CJ; Greiner, Mark A MA; Mootha, V Vinod VV; Raghunathan, Vijay Krishna VK; Thomasy, Sara M SM

Publication Date: 2023-04-03

Variant appearance in text: FECD: Q455K

PubMed Link: 37074694

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• Main text
• iovs-64-4-22.pdf

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Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

International Journal Of Molecular Sciences

Zhu, Di D; Wang, Junwen J; Wang, Yingwei Y; Jiang, Yi Y; Li, Shiqiang S; Xiao, Xueshan X; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2023-03-06

Variant appearance in text: FECD: 1363C>A

PubMed Link: 36902444

Variant Present in the following documents:

• Main text
• ijms-24-05012.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: COL8A2: 1363C>A; Gln455Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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MicroRNA of Epithelial to Mesenchymal Transition in Fuchs' Endothelial Corneal Dystrophy.

Genes

Stunf Pukl, Spela S

Publication Date: 2022-09-23

Variant appearance in text: COL8A2: Gln455Lys

PubMed Link: 36292595

Variant Present in the following documents:

• Main text
• genes-13-01711.pdf

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Repressed miR-34a Expression Dictates the Cell Fate to Corneal Endothelium Failure.

Investigative Ophthalmology & Visual Science

Hamuro, Junji J; Asada, Kazuko K; Ueno, Morio M; Yamashita, Tomoko T; Mukai, Atsushi A; Fujita, Tomoko T; Ito, Eiko E; Hiramoto, Nao N; Toda, Munetoyo M; Sotozono, Chie C; Kinoshita, Shigeru S

Publication Date: 2022-04-01

Variant appearance in text: FECD: Q455K

PubMed Link: 35475886

Variant Present in the following documents:

• iovs-63-4-22.pdf

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Intracellular pH affects mitochondrial homeostasis in cultured human corneal endothelial cells prepared for cell injection therapy.

Scientific Reports

Deguchi, Hideto H; Yamashita, Tomoko T; Hiramoto, Nao N; Otsuki, Yohei Y; Mukai, Atsushi A; Ueno, Morio M; Sotozono, Chie C; Kinoshita, Shigeru S; Hamuro, Junji J

Publication Date: 2022-04-15

Variant appearance in text: FECD: Q455K

PubMed Link: 35428816

Variant Present in the following documents:

• 41598_2022_Article_10176.pdf

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Animal models of corneal endothelial dysfunction to facilitate development of novel therapies.

Annals Of Translational Medicine

Park, Sangwan S; Leonard, Brian C BC; Raghunathan, Vijay Krishna VK; Kim, Soohyun S; Li, Jennifer Y JY; Mannis, Mark J MJ; Murphy, Christopher J CJ; Thomasy, Sara M SM

Publication Date: 2021-08

Variant appearance in text: FECD: Q455K

PubMed Link: 34532408

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• Main text
• atm-09-15-1271.pdf

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Mitochondrial Dysfunction and Mitophagy in Fuchs Endothelial Corneal Dystrophy.

Cells

Kumar, Varun V; Jurkunas, Ula V UV

Publication Date: 2021-07-26

Variant appearance in text: FECD: Q455K

PubMed Link: 34440658

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• Main text
• cells-10-01888.pdf

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Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.

Eye And Vision (London, England)

Liu, Xuerui X; Zheng, Tao T; Zhao, Chuchu C; Zhang, Yi Y; Liu, Hanruo H; Wang, Liyuan L; Liu, Ping P

Publication Date: 2021-06-15

Variant appearance in text: FECD: Q455K

PubMed Link: 34130750

Variant Present in the following documents:

• Main text
• 40662_2021_Article_246.pdf

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Start codon disruption with CRISPR/Cas9 prevents murine Fuchs' endothelial corneal dystrophy.

Elife

Uehara, Hironori H; Zhang, Xiaohui X; Pereira, Felipe F; Narendran, Siddharth S; Choi, Susie S; Bhuvanagiri, Sai S; Liu, Jinlu J; Ravi Kumar, Sangeetha S; Bohner, Austin A; Carroll, Lara L; Archer, Bonnie B; Zhang, Yue Y; Liu, Wei W; Gao, Guangping G; Ambati, Jayakrishna J; Jun, Albert S AS; Ambati, Balamurali K BK

Publication Date: 2021-06-08

Variant appearance in text: FECD: Q455K

PubMed Link: 34100716

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• Main text

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Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.

Antioxidants (Basel, Switzerland)

Egea, Gustavo G; Jiménez-Altayó, Francesc F; Campuzano, Victoria V

Publication Date: 2020-10-19

Variant appearance in text: COL8A2: Q455K

PubMed Link: 33086603

Variant Present in the following documents:

• antioxidants-09-01013.pdf

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COL8A2 Regulates the Fate of Corneal Endothelial Cells.

Investigative Ophthalmology & Visual Science

Hwang, Jin Sun JS; Ma, Dae Joong DJ; Choi, Jinju J; Shin, Young Joo YJ

Publication Date: 2020-09-01

Variant appearance in text: FECD: Q455K

PubMed Link: 32931574

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• Main text
• iovs-61-11-26.pdf

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Fuchs endothelial corneal dystrophy: The vicious cycle of Fuchs pathogenesis.

Progress In Retinal And Eye Research

Ong Tone, Stephan S; Kocaba, Viridiana V; Böhm, Myriam M; Wylegala, Adam A; White, Tomas L TL; Jurkunas, Ula V UV

Publication Date: 2021-01

Variant appearance in text: COL8A2: Q455K

PubMed Link: 32438095

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• Main text

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Transcription Factor 4 Regulates the Regeneration of Corneal Endothelial Cells.

Investigative Ophthalmology & Visual Science

Hwang, Jin Sun JS; Yoon, Chang Ki CK; Hyon, Joon Young JY; Chung, Tae-Young TY; Shin, Young Joo YJ

Publication Date: 2020-04-09

Variant appearance in text: FECD: Q455K

PubMed Link: 32301972

Variant Present in the following documents:

• iovs-61-4-21.pdf

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Autophagy and Age-Related Eye Diseases.

Biomed Research International

Yang, Xue X; Pan, Xinan X; Zhao, Xiaorui X; Luo, Jin J; Xu, Mingpu M; Bai, Daoming D; Hu, Yan Y; Liu, Xu X; Yu, Qiongfang Q; Gao, Dian D

Publication Date: 2019

Variant appearance in text: COL8A2: Q455K

PubMed Link: 31950044

Variant Present in the following documents:

• Main text
• BMRI2019-5763658.pdf

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REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.

Molecular Vision

Nanda, Gargi Gouranga GG; Alone, Debasmita Pankaj DP

Publication Date: 2019

Variant appearance in text: COL8A2: Gln455Lys

PubMed Link: 31263352

Variant Present in the following documents:

• Main text
• mv-v25-295.pdf

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TCF4 and COL8A2 Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy.

In Vivo (Athens, Greece)

Moschos, Marilita M MM; Diamantopoulou, Andriana A; Gouliopoulos, Nikos N; Droutsas, Konstantinos K; Bagli, Eleni E; Chatzistefanou, Klio K; Kitsos, George G; Kroupis, Christos C

Publication Date: 2019

Variant appearance in text: FECD: Q455K

PubMed Link: 31028223

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• Main text

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Biomechanical changes to Descemet's membrane precede endothelial cell loss in an early-onset murine model of Fuchs endothelial corneal dystrophy.

Experimental Eye Research

Leonard, Brian C BC; Jalilian, Iman I; Raghunathan, Vijay Krishna VK; Wang, Wei W; Jun, Albert S AS; Murphy, Christopher J CJ; Thomasy, Sara M SM

Publication Date: 2019-03

Variant appearance in text: COL8A2: Q455K

PubMed Link: 30471280

Variant Present in the following documents:

• Main text

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Perspective of Future Potent Therapies for Fuchs Endothelial Corneal Dystrophy.

The Open Ophthalmology Journal

Okumura, Naoki N; Hayashi, Ryousuke R; Koizumi, Noriko N

Publication Date: 2018

Variant appearance in text: FECD: Q455K

PubMed Link: 30123380

Variant Present in the following documents:

• Main text
• TOOPHTJ-12-154.pdf

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Molecular Age-Related Changes in the Anterior Segment of the Eye.

Journal Of Ophthalmology

Hernandez-Zimbron, Luis Fernando LF; Gulias-Cañizo, Rosario R; Golzarri, María F MF; Martínez-Báez, Blanca Elizabeth BE; Quiroz-Mercado, Hugo H; Gonzalez-Salinas, Roberto R

Publication Date: 2017

Variant appearance in text: FECD: Q455K

PubMed Link: 29147580

Variant Present in the following documents:

• JOPH2017-1295132.pdf

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Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology.

Cornea

Shull, Olivia R OR; Reilly, Christopher M CM; Davis, Lola B LB; Murphy, Christopher J CJ; Thomasy, Sara M SM

Publication Date: 2018-01

Variant appearance in text: FECD: Q455K

PubMed Link: 29077583

Variant Present in the following documents:

• Main text

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Biomechanical relationships between the corneal endothelium and Descemet's membrane.

Experimental Eye Research

Ali, Maryam M; Raghunathan, VijayKrishna V; Li, Jennifer Y JY; Murphy, Christopher J CJ; Thomasy, Sara M SM

Publication Date: 2016-11

Variant appearance in text: COL8A2: Q455K

PubMed Link: 27639516

Variant Present in the following documents:

• Main text

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MicroRNA-29b Overexpression Decreases Extracellular Matrix mRNA and Protein Production in Human Corneal Endothelial Cells.

Cornea

Toyono, Tetsuya T; Usui, Tomohiko T; Villarreal, Guadalupe G; Kallay, Laura L; Matthaei, Mario M; Vianna, Lucas M M LM; Zhu, Angela Y AY; Kuroda, Masahiko M; Amano, Shiro S; Jun, Albert S AS

Publication Date: 2016-11

Variant appearance in text: FECD: Q455K

PubMed Link: 27490049

Variant Present in the following documents:

• Main text

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Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.

International Journal Of Molecular Medicine

Tang, Hui H; Zhang, Wen W; Yan, Xin-Min XM; Wang, Lin-Ping LP; Dong, Hong H; Shou, Tao T; Lei, Huo H; Guo, Qiang Q

Publication Date: 2016-06

Variant appearance in text: COL8A2: Q455K

PubMed Link: 27121161

Variant Present in the following documents:

• Main text
• ijmm-37-06-1487.pdf

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Wound-Induced Polyploidization: Regulation by Hippo and JNK Signaling and Conservation in Mammals.

Plos One

Losick, Vicki P VP; Jun, Albert S AS; Spradling, Allan C AC

Publication Date: 2016

Variant appearance in text: FECD: Q455K

PubMed Link: 26958853

Variant Present in the following documents:

• Main text

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Fuchs endothelial corneal dystrophy: current perspectives.

Clinical Ophthalmology (Auckland, N.Z.)

Vedana, Gustavo G; Villarreal, Guadalupe G; Jun, Albert S AS

Publication Date: 2016

Variant appearance in text: FECD: Gln455Lys

PubMed Link: 26937169

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: FECD1: Q455K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India.

Molecular Vision

Gupta, Ranjan R; Kumawat, Babu Lal BL; Paliwal, Preeti P; Tandon, Radhika R; Sharma, Namrata N; Sen, Seema S; Kashyap, Seema S; Nag, Tapas Chandra TC; Vajpayee, Rasik B RB; Sharma, Arundhati A

Publication Date: 2015

Variant appearance in text: COL8A2: Q455K

PubMed Link: 26622166

Variant Present in the following documents:

• mv-v21-1252.pdf

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CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Gene Therapy

Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB

Publication Date: 2016-01

Variant appearance in text: COL8A2: Q455K

PubMed Link: 26289666

Variant Present in the following documents:

• gt201582x1.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: COL8A2: Q455K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Loss of ion transporters and increased unfolded protein response in Fuchs' dystrophy.

Molecular Vision

Jalimarada, Supriya S SS; Ogando, Diego G DG; Bonanno, Joseph A JA

Publication Date: 2014

Variant appearance in text: COL8A2: Q455K

PubMed Link: 25548511

Variant Present in the following documents:

• Main text
• mv-v20-1668.pdf

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Developments in Ocular Genetics: 2013 Annual Review.

Asia-Pacific Journal Of Ophthalmology (Philadelphia, Pa.)

Aboobakar, Inas F IF; Allingham, R Rand RR

Publication Date: 2014

Variant appearance in text: FECD: Q455K

PubMed Link: 25097799

Variant Present in the following documents:

• Main text

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N-Acetylcysteine increases corneal endothelial cell survival in a mouse model of Fuchs endothelial corneal dystrophy.

Experimental Eye Research

Kim, Eun Chul EC; Meng, Huan H; Jun, Albert S AS

Publication Date: 2014-10

Variant appearance in text: FECD: Q455K

PubMed Link: 24952277

Variant Present in the following documents:

• Main text

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Autophagy in the eye: implications for ocular cell health.

Experimental Eye Research

Frost, Laura S LS; Mitchell, Claire H CH; Boesze-Battaglia, Kathleen K

Publication Date: 2014-07

Variant appearance in text: FECD: Q455K

PubMed Link: 24810222

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• Main text

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Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.

Molecular Vision

Minear, Mollie A MA; Li, Yi-Ju YJ; Rimmler, Jacqueline J; Balajonda, Elmer E; Watson, Shera S; Allingham, R Rand RR; Hauser, Michael A MA; Klintworth, Gordon K GK; Afshari, Natalie A NA; Gregory, Simon G SG

Publication Date: 2013

Variant appearance in text: FECD: Q455K

PubMed Link: 24348007

Variant Present in the following documents:

• Main text
• mv-v19-2508.pdf

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Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.

Investigative Ophthalmology & Visual Science

Mootha, V Vinod VV; Gong, Xin X; Ku, Hung-Chih HC; Xing, Chao C

Publication Date: 2014-01-02

Variant appearance in text: COL8A2: Q455K

PubMed Link: 24255041

Variant Present in the following documents:

• Main text

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Fuchs endothelial cornea dystrophy: a review of the genetics behind disease development.

Seminars In Ophthalmology

Hamill, Cecily E CE; Schmedt, Thore T; Jurkunas, Ula U

Publication Date: 2013

Variant appearance in text: FECD: Q455K

PubMed Link: 24138036

Variant Present in the following documents:

• Main text

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Lithium treatment increases endothelial cell survival and autophagy in a mouse model of Fuchs endothelial corneal dystrophy.

The British Journal Of Ophthalmology

Kim, Eun Chul EC; Meng, Huan H; Jun, Albert S AS

Publication Date: 2013-08

Variant appearance in text: FECD: Q455K

PubMed Link: 23759441

Variant Present in the following documents:

• Main text

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Genetics of the corneal endothelial dystrophies: an evidence-based review.

Clinical Genetics

Aldave, A J AJ; Han, J J; Frausto, R F RF

Publication Date: 2013-08

Variant appearance in text: COL8A2: Gln455Lys

PubMed Link: 23662738

Variant Present in the following documents:

• Main text

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The genetics of Fuchs' corneal dystrophy.

Expert Review Of Ophthalmology

Iliff, Benjamin W BW; Riazuddin, S Amer SA; Gottsch, John D JD

Publication Date: 2012-08

Variant appearance in text: COL8A2: Q455K

PubMed Link: 23585771

Variant Present in the following documents:

• Main text

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Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy.

Investigative Ophthalmology & Visual Science

Matthaei, Mario M; Hu, Jianfei J; Meng, Huan H; Lackner, Eva-Maria EM; Eberhart, Charles G CG; Qian, Jiang J; Hao, Haiping H; Jun, Albert S AS

Publication Date: 2013-03-15

Variant appearance in text: FECD: Q455K

PubMed Link: 23449721

Variant Present in the following documents:

• Main text

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L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy.

Investigative Ophthalmology & Visual Science

Meng, Huan H; Matthaei, Mario M; Ramanan, Narendrakumar N; Grebe, Rhonda R; Chakravarti, Shukti S; Speck, Caroline L CL; Kimos, Martha M; Vij, Neeraj N; Eberhart, Charles G CG; Jun, Albert S AS

Publication Date: 2013-03-28

Variant appearance in text: FECD: Q455K

PubMed Link: 23422828

Variant Present in the following documents:

• Main text

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Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.

Plos One

Igo, Robert P RP; Kopplin, Laura J LJ; Joseph, Peronne P; Truitt, Barbara B; Fondran, Jeremy J; Bardenstein, David D; Aldave, Anthony J AJ; Croasdale, Christopher R CR; Price, Marianne O MO; Rosenwasser, Miriam M; Lass, Jonathan H JH; Iyengar, Sudha K SK; ,

Publication Date: 2012

Variant appearance in text: FECD: Gln455Lys

PubMed Link: 23110055

Variant Present in the following documents:

• Main text
• pone.0046742.pdf

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Endothelial Cdkn1a (p21) overexpression and accelerated senescence in a mouse model of Fuchs endothelial corneal dystrophy.

Investigative Ophthalmology & Visual Science

Matthaei, Mario M; Meng, Huan H; Meeker, Alan K AK; Eberhart, Charles G CG; Jun, Albert S AS

Publication Date: 2012-09-28

Variant appearance in text: FECD: Q455K

PubMed Link: 22956607

Variant Present in the following documents:

• Main text

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A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.

Experimental Eye Research

Kelliher, Clare C; Chakravarti, Shukti S; Vij, Neeraj N; Mazur, Steve S; Stahl, Patrick J PJ; Engler, Christoph C; Matthaei, Mario M; Yu, S Michael SM; Jun, Albert S AS

Publication Date: 2011-12

Variant appearance in text: FECD: Q455K

PubMed Link: 22020132

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• Main text

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An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.

Human Molecular Genetics

Jun, Albert S AS; Meng, Huan H; Ramanan, Naren N; Matthaei, Mario M; Chakravarti, Shukti S; Bonshek, Richard R; Black, Graeme C M GC; Grebe, Rhonda R; Kimos, Martha M

Publication Date: 2012-01-15

Variant appearance in text: COL8A2: Q455K

PubMed Link: 22002996

Variant Present in the following documents:

• Main text

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Molecular bases of corneal endothelial dystrophies.

Experimental Eye Research

Schmedt, Thore T; Silva, Mariana Mazzini MM; Ziaei, Alireza A; Jurkunas, Ula U

Publication Date: 2012-02

Variant appearance in text: FECD: Gln455Lys

PubMed Link: 21855542

Variant Present in the following documents:

• Main text

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Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

Plos One

Li, Yi-Ju YJ; Minear, Mollie A MA; Rimmler, Jacqueline J; Zhao, Bei B; Balajonda, Elmer E; Hauser, Michael A MA; Allingham, R Rand RR; Eghrari, Allen O AO; Riazuddin, S Amer SA; Katsanis, Nicholas N; Gottsch, John D JD; Gregory, Simon G SG; Klintworth, Gordon K GK; Afshari, Natalie A NA

Publication Date: 2011-04-20

Variant appearance in text: COL8A2: Q455K

PubMed Link: 21533127

Variant Present in the following documents:

• Main text

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Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.

Molecular Vision

Desronvil, T T; Logan-Wyatt, D D; Abdrabou, W W; Triana, M M; Jones, R R; Taheri, S S; Del Bono, E E; Pasquale, L R LR; Olivier, M M; Haines, J L JL; Fan, B J BJ; Wiggs, J L JL

Publication Date: 2010-10-29

Variant appearance in text: COL8A2: Q455K

PubMed Link: 21139683

Variant Present in the following documents:

• Main text
• mv-v16-2185.pdf

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Fuchs endothelial corneal dystrophy.

The Ocular Surface

Elhalis, Hussain H; Azizi, Behrooz B; Jurkunas, Ula V UV

Publication Date: 2010-10

Variant appearance in text: COL8A2: Q455K

PubMed Link: 20964980

Variant Present in the following documents:

• Main text

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Fuchs' corneal dystrophy.

Expert Review Of Ophthalmology

Eghrari, Allen O AO; Gottsch, John D JD

Publication Date: 2010-04

Variant appearance in text: COL8A2: Q455K

PubMed Link: 20625449

Variant Present in the following documents:

• Main text

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Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.

Bmc Ophthalmology

Hemadevi, Boomiraj B; Srinivasan, Muthiah M; Arunkumar, Jambulingam J; Prajna, Namperumalsamy V NV; Sundaresan, Periasamy P

Publication Date: 2010-02-10

Variant appearance in text: FECD: Gln455Lys

PubMed Link: 20144242

Variant Present in the following documents:

• Main text

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: COL8A2: 1363C>A

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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Corneal dystrophies.

Orphanet Journal Of Rare Diseases

Klintworth, Gordon K GK

Publication Date: 2009-02-23

Variant appearance in text: FECD: Gln455Lys

PubMed Link: 19236704

Variant Present in the following documents:

• Main text
• 1750-1172-4-7.pdf

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Genome-wide linkage scan in fuchs endothelial corneal dystrophy.

Investigative Ophthalmology & Visual Science

Afshari, Natalie A NA; Li, Yi-Ju YJ; Pericak-Vance, Margaret A MA; Gregory, Simon S; Klintworth, Gordon K GK

Publication Date: 2009-03

Variant appearance in text: COL8A2: Q455K

PubMed Link: 18502986

Variant Present in the following documents:

• Main text

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British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

The British Journal Of Ophthalmology

Liskova, P P; Prescott, Q Q; Bhattacharya, S S SS; Tuft, S J SJ

Publication Date: 2007-12

Variant appearance in text: FECD: Q455K

PubMed Link: 18024822

Variant Present in the following documents:

• Main text

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