Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

Autor: Megan Ulmer Carnes, Yangfan P Liu, R Rand Allingham, Benjamin T Whigham, Shane Havens, Melanie E Garrett, Chunyan Qiao, NEIGHBORHOOD Consortium Investigators, Nicholas Katsanis, Janey L Wiggs, Louis R Pasquale, Allison Ashley-Koch, Edwin C Oh, Michael A Hauser

Publikováno v: PLoS Genetics, Vol 10, Iss 5, p e1004372 (2014)

Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association

Externí odkaz: https://doaj.org/article/09a059fa35e943d39c6a161436730c9a

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The Genomic Basis of Postponed Senescence in Drosophila melanogaster.

Autor: Carnes, Megan Ulmer¹, Campbell, Terry¹, Huang, Wen^1,2, Butler, Daniel G.¹, Carbone, Mary Anna^1,2,3, Duncan, Laura H.¹, Harbajan, Sasha V.¹, King, Edward M.¹, Peterson, Kara R.¹, Weitzel, Alexander¹, Zhou, Shanshan^1,2,3, Mackay, Trudy F. C.^1,2,3 trudy_mackay@ncsu.edu

Publikováno v: PLoS ONE. 9/17/2015, Vol. 10 Issue 9, p1-22. 22p.

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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Autor: Ananth C. Viswanathan, Jian Yang, Ozren Polasek, Paul Mitchell, James F. Wilson, Caroline Hayward, Unnur Thorsteinsdottir, Colin E. Willoughby, Kathryn P. Burdon, Grant W. Montgomery, Wishal D. Ramdas, Jie Jin Wang, Ching-Yu Cheng, Michael G. Anderson, Richard A. Mills, Roger C. W. Wolfs, Veronique Vitart, Jae H. Kang, Jianjun Liu, Alireza Mirshahi, David A. Mackey, Brian W Fleck, Terri L. Young, Yaron S. Rabinowitz, Eranga N. Vithana, Jamie E Craig, Kent D. Taylor, Zoran Vatavuk, Jenny Mountain, Clement C Y Tham, Caroline C W Klaver, Tin Aung, Allison E. Ashley-Koch, Alan F. Wright, Alex MacLeod, Tanja Zeller, Sarah Ennis, Nicholas G. Martin, David S. Siscovick, Sayoko E. Moroi, Li J. Chen, David P. Dimasi, Yelena Bykhovskaya, Kari Stefansson, Yi Lu, Seyhan Yazar, Pirro G. Hysi, Angela J. Cree, Louis R. Pasquale, Wei Ang, Ayse Bilge Ozel, Megan Ulmer, Stuart MacGregor, Janey L. Wiggs, Dexter Y L Leung, Harry Campbell, Jonathan L. Haines, Cornelia M. van Duijn, Igor Rudan, Tim D. Spector, René Hoehn, E. Shyong Tai, Wan Ting Tay, Michael A. Hauser, Jun Li, Craig E. Pennell, Henriët Springelkamp, Karl J. Lackner, Tien Yin Wong, Jane Gibson, Norbert Pfeiffer, Seang-Mei Saw, Virginie J. M. Verhoeven, Gudmar Thorleifsson, R. Rand Allingham, Julia E. Richards, Jia Nee Foo, Raphaële Castagné, Christopher J Hammond, Fridbert Jonasson, Belinda K. Cornes, Andrew J. Lotery, Brian L. Yaspan, Franz H. Grus, Chi P. Pang, Chiea Chuen Khor, Jerome I. Rotter, Xiaohui Li, Demelza Koehn, Alex W. Hewitt

Publikováno v: Lu, Y, Vitart, V, Burdon, K P, Khor, C C, Bykhovskaya, Y, Mirshahi, A, Hewitt, A W, Koehn, D, Hysi, P G, Ramdas, W D, Zeller, T, Vithana, E N, Cornes, B K, Tay, W-T, Tai, E S, Cheng, C-Y, Liu, J, Foo, J-N, Saw, S M, Thorleifsson, G, Stefansson, K, Dimasi, D P, Mills, R A, Mountain, J, Ang, W, Hoehn, R, Verhoeven, V J M, Grus, F, Wolfs, R, Castagne, R, Lackner, K J, Springelkamp, H, Yang, J, Jonasson, F, Leung, D Y L, Chen, L J, Tham, C C Y, Rudan, I, Vatavuk, Z, Hayward, C, Gibson, J, Cree, A J, Macleod, A, Ennis, S, Polasek, O, Campbell, H, Wilson, J F, Viswanathan, A C & Fleck, B & Wright, A F 2013, ' Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus ', Nature Genetics, vol. 45, no. 2, pp. 155-163 . https://doi.org/10.1038/ng.2506
Nature Genetics, 45(2), 155-163. Nature Publishing Group

The author manuscript of this article is open access and is freely available online at PubMed Central
Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea8747a7955b4dfc558416424570a97d
https://www.pure.ed.ac.uk/ws/files/14425060/Genome_wide_association_analyses_identify_multiple_loci_associated_with_central_corneal_thickness_and_keratoconus.pdf