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A. Cano, F. Portillo (2010)
An emerging role for class I bHLH E2-2 proteins in EMT regulation and tumor progressionCell Adhesion & Migration, 4
(2015)
Eye banking statistical report
S. Riazuddin, David Parker, Elyse McGlumphy, Edwin Oh, Benjamin Iliff, T. Schmedt, U. Jurkunas, R. Schleif, N. Katsanis, J. Gottsch (2012)
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.American journal of human genetics, 90 3
X. Li, D. Gao, H. Wang, J. Yang, X. Yan, Z. Liu, Z. Ma, Z-X Xiao (2015)
Negative feedback loop between p66Shc and ZEB1 regulates fibrotic EMT response in lung cancer cellsCell Death & Disease, 6
RP Igo, LJ Kopplin, P Joseph, B Truitt, J Fondran, D Bardenstein, AJ Aldave, CR Croasdale, MO Price, M Rosenwasser, JH Lass, SK Iyengar (2012)
FECD genetics multi-center study group. Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophyPLoS One, 7
J. Stamler, B. Roos, M. Wagoner, K. Goins, A. Kitzmann, Janet Riley, E. Stone, J. Fingert (2013)
Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United StatesOphthalmic Genetics, 34
E. Aken, P. Papeleu, P. Potter, J. Laey, M. Mareel (2000)
Cadherin expression in the eye.Bulletin de la Societe belge d'ophtalmologie, 278
SE Wilson, WM Bourne (1988)
Fuchs’ dystrophyCornea, 7
K. Baratz, Nirubol Tosakulwong, Euijung Ryu, William Brown, Kari Branham, Wei Chen, Khoa Tran, K. Schmid-Kubista, J. Heckenlively, Anand Swaroop, G. Abecasis, Kent Bailey, Albert Edwards (2010)
E2-2 protein and Fuchs's corneal dystrophy.The New England journal of medicine, 363 11
R. Igo, Laura Kopplin, P. Joseph, Barbara Truitt, J. Fondran, D. Bardenstein, A. Aldave, C. Croasdale, M. Price, Miriam Rosenwasser, J. Lass, S. Iyengar (2012)
Differing Roles for TCF4 and COL8A2 in Central Corneal Thickness and Fuchs Endothelial Corneal DystrophyPLoS ONE, 7
E. Wieben, R. Aleff, B. Eckloff, E. Atkinson, S. Baheti, S. Middha, W. Brown, Sanjay Patel, J. Kocher, K. Baratz (2014)
Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.Investigative ophthalmology & visual science, 55 9
Ranjan Gupta, Babulal Kumawat, P. Paliwal, R. Tandon, N. Sharma, S. Sen, S. Kashyap, T. Nag, R. Vajpayee, Arundhati Sharma (2015)
Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern IndiaMolecular Vision, 21
Benjamin Iliff, S. Riazuddin, J. Gottsch (2012)
The genetics of Fuchs’ corneal dystrophyExpert Review of Ophthalmology, 7
M. Johnston, D. Noden, R. Hazelton, J. Coulombre, A. Coulombre (1979)
Origins of avian ocular and periocular tissues.Experimental eye research, 29 1
E. Wieben, R. Aleff, Nirubol Tosakulwong, Malinda Butz, W. Highsmith, A. Edwards, K. Baratz, A. Lewin (2012)
A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal DystrophyPLoS ONE, 7
M Luther, C Grünauer-Kloevekorn, E Weidle, E Passarge, A Rupprecht, K Hoffmann, S Foja (2016)
TGC repeats in intron 2 of the TCF4 Gene have a good predictive power regarding to Fuchs endothelial corneal dystrophyKlin Monatsbl Augenheilkd, 233
J. Gottsch, O. Sundin, Sammy Liu, A. Jun, K. Broman, W. Stark, Elizabeth Vito, A. Narang, John Thompson, M. Magovern (2005)
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.Investigative ophthalmology & visual science, 46 6
Angela Zhu, C. Eberhart, A. Jun (2014)
Fuchs endothelial corneal dystrophy: a neurodegenerative disorder?JAMA ophthalmology, 132 4
Yi-Ju Li, Mollie Minear, J. Rimmler, Bei Zhao, Elmer Balajonda, M. Hauser, R. Allingham, A. Eghrari, S. Riazuddin, N. Katsanis, J. Gottsch, S. Gregory, G. Klintworth, N. Afshari (2011)
Replication of TCF4 through Association and Linkage Studies in Late-Onset Fuchs Endothelial Corneal DystrophyPLoS ONE, 6
T. Keenan, Mark Jones, S. Rushton, F. Carley (2012)
Trends in the indications for corneal graft surgery in the United Kingdom: 1999 through 2009.Archives of ophthalmology, 130 5
V. Mootha, Xin Gong, Hung‐Chih Ku, Chao Xing (2014)
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.Investigative ophthalmology & visual science, 55 1
M. Price, F. Price (2013)
Descemet's membrane endothelial keratoplasty surgery: update on the evidence and hurdles to acceptanceCurrent Opinion in Ophthalmology, 24
H. Gerhardt, S. Liebner, C. Redies, H. Wolburg (1999)
N‐cadherin expression in endothelial cells during early angiogenesis in the eye and brain of the chicken: relation to blood–retina and blood–brain barrier development*European Journal of Neuroscience, 11
A. Wright, B. Dhillon (2010)
Major progress in Fuchs's corneal dystrophy.The New England journal of medicine, 363 11
M. Luther, C. Grünauer-Kloevekorn, E. Weidle, E. Passarge, A. Rupprecht, K. Hoffmann, S. Foja (2015)
[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy].Klinische Monatsblatter fur Augenheilkunde, 233 2
M. Matthaei, Angela Zhu, L. Kallay, C. Eberhart, C. Cursiefen, A. Jun (2014)
Transcript profile of cellular senescence-related genes in Fuchs endothelial corneal dystrophy.Experimental eye research, 129
E. Vithana, P. Morgan, Periasamy Sundaresan, N. Ebenezer, D. Tan, M. Mohamed, S. Anand, K. Khine, D. Venkataraman, V. Yong, M. Salto‐Tellez, Anandalakshmi Venkatraman, Ke Guo, B. Hemadevi, M. Srinivasan, V. Prajna, M. Khine, J. Casey, C. Inglehearn, T. Aung (2006)
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)Nature Genetics, 38
M. Sepp, Kaja Kannike, A. Eesmaa, M. Urb, T. Timmusk (2011)
Functional Diversity of Human Basic Helix-Loop-Helix Transcription Factor TCF4 Isoforms Generated by Alternative 5′ Exon Usage and SplicingPLoS ONE, 6
T. Schmedt, M. Silva, A. Ziaei, U. Jurkunas (2012)
Molecular bases of corneal endothelial dystrophies.Experimental eye research, 95 1
S. Hatou, S. Yoshida, K. Higa, H. Miyashita, Emi Inagaki, H. Okano, K. Tsubota, S. Shimmura (2013)
Functional corneal endothelium derived from corneal stroma stem cells of neural crest origin by retinoic acid and Wnt/β-catenin signaling.Stem cells and development, 22 5
Charles Krafchak, H. Pawar, S. Moroi, A. Sugar, P. Lichter, D. Mackey, S. Mian, Theresa Nairus, V. Elner, M. Schteingart, C. Downs, T. Kijek, Jenae Johnson, E. Trager, F. Rozsa, M. Mandal, M. Epstein, D. Vollrath, R. Ayyagari, M. Boehnke, J. Richards (2005)
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.American journal of human genetics, 77 5
J. Tan, S. Holland, P. Dubord, Gregory Moloney, M. McCarthy, S. Yeung (2014)
Evolving Indications for and Trends in Keratoplasty in British Columbia, Canada, From 2002 to 2011: A 10-Year ReviewCornea, 33
Michael Seider, J. Keenan, Ying Han (2012)
Cost of selective laser trabeculoplasty vs topical medications for glaucoma.Archives of ophthalmology, 130 4
Chao Xing, Xin Gong, Imran Hussain, C. Khor, D. Tan, T. Aung, J. Mehta, E. Vithana, V. Mootha (2014)
Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant.Investigative ophthalmology & visual science, 55 11
A. Aldave, Jonathan Han, R. Frausto (2013)
Genetics of the corneal endothelial dystrophies: an evidence‐based reviewClinical Genetics, 84
Jintang Du, R. Aleff, E. Soragni, Krishna Kalari, Jinfu Nie, Xiaojia Tang, Jaime Davila, J. Kocher, Sanjay Patel, J. Gottesfeld, K. Baratz, E. Wieben (2015)
RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy*The Journal of Biological Chemistry, 290
Wing-yan Yu, C. Sheridan, I. Grierson, S. Mason, V. Kearns, A. Lo, David Wong (2011)
Progenitors for the Corneal Endothelium and Trabecular Meshwork: A Potential Source for Personalized Stem Cell Therapy in Corneal Endothelial Diseases and GlaucomaJournal of Biomedicine and Biotechnology, 2011
V. Mootha, Imran Hussain, K. Cunnusamy, Eric Graham, Xin Gong, S. Neelam, Chao Xing, R. Kittler, W. Petroll (2015)
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science, 56 3
Jingjing Qu, Min Li, J. An, Bingrong Zhao, Wen Zhong, Q. Gu, Liming Cao, Huaping Yang, Chengping Hu (2015)
MicroRNA-33b inhibits lung adenocarcinoma cell growth, invasion, and epithelial-mesenchymal transition by suppressing Wnt/β-catenin/ZEB1 signaling.International journal of oncology, 47 6
E. Sánchez-Tilló, O. Barrios, L. Siles, M. Cuatrecasas, A. Castells, A. Postigo (2011)
β-catenin/TCF4 complex induces the epithelial-to-mesenchymal transition (EMT)-activator ZEB1 to regulate tumor invasivenessProceedings of the National Academy of Sciences, 108
M. Forrest, A. Waite, E. Martin‐Rendon, D. Blake (2013)
Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal DifferentiationPLoS ONE, 8
F. Nollet, P. Kools, F. Roy (2000)
Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members.Journal of molecular biology, 299 3
J. Gottsch, Cheng Zhang, O. Sundin, W. Bell, Walter Stark, W. Green (2005)
Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene.Investigative ophthalmology & visual science, 46 12
M. Ołdak, Ewelina Ruszkowska, M. Udziela, D. Oziębło, E. Bińczyk, A. Ścieżyńska, R. Płoski, J. Szaflik (2015)
Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA LevelBioMed Research International, 2015
Supriya Jalimarada, D. Ogando, J. Bonanno (2014)
Loss of ion transporters and increased unfolded protein response in Fuchs’ dystrophyMolecular Vision, 20
S. Riazuddin, S. Vasanth, N. Katsanis, J. Gottsch (2013)
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.American journal of human genetics, 93 4
S. Riazuddin, Elyse McGlumphy, William Yeo, Jiangxia Wang, N. Katsanis, J. Gottsch (2011)
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.Investigative ophthalmology & visual science, 52 5
T. Keenan, Mark Jones, Sally Rushton, Fiona Carley (2017)
Trends in the Indications for Corneal Graft Surgery in the United Kingdom
A. McCartney, C. Kirkness (1988)
Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the corneaEye, 2
Samy Lamouille, Jian Xu, R. Derynck (2014)
Molecular mechanisms of epithelial–mesenchymal transitionNature Reviews Molecular Cell Biology, 15
H. Chi, C. Teng, H. Katzin (1958)
Histopathology of primary endothelial-epithelial dystrophy of the cornea.American journal of ophthalmology, 45 4 Pt 1
Verónica Sobrado, G. Moreno-Bueno, E. Cubillo, L. Holt, M. Nieto, F. Portillo, A. Cano (2009)
The class I bHLH factors E2-2A and E2-2B regulate EMTJournal of Cell Science, 122
S. Riazuddin, N. Zaghloul, A. Al-Saif, Lisa Davey, B. Diplas, Danielle Meadows, A. Eghrari, Mollie Minear, Yi-Ju Li, G. Klintworth, N. Afshari, S. Gregory, J. Gottsch, N. Katsanis, N. Katsanis (2010)
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.American journal of human genetics, 86 1
Graefes Arch Clin Exp Ophthalmol (2017) 255:1621–1631 DOI 10.1007/s00417-017-3697-7 GENETICS CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs’ dystrophy 1 1 1 2 Sabine Foja & Mirjam Luther & Katrin Hoffmann & Andreas Rupprecht & Claudia Gruenauer-Kloevekorn Received: 6 December 2016 /Revised: 28 April 2017 /Accepted: 15 May 2017 /Published online: 12 June 2017 Springer-Verlag Berlin Heidelberg 2017 Abstract cells, expression of CDH2 (N-cadherin) was detected in Purpose It was the aim of this investigation to elucidate the FECD-affected endothelium and in our controls. functional effects of CTG18.1 trinucleotide repeat expansion Conclusions The CTG18.1 repeat expansion may reduce and the polymorphism rs613872 in the transcription factor 4 gene expression of TCF4 and ZEB1, suggesting that a mech- (TCF4) in corneas of patients affected by Fuchs’ endothelial anism triggering a loss of function may contribute to FECD. corneal dystrophy (FECD). The correlation of CTG18.1 repeat expansion from blood and Methods Sixty-one unrelated German patients with FECD the cornea may represent the first step toward investigating the and 113 unaffected controls were investigated and genotyped potential relevance of testing the blood of cornea donors to for the CTG18.1 locus by triplet primed
Graefe's Archive for Clinical and Experimental Ophthalmology – Springer Journals
Published: Jun 12, 2017
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