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Results: 20
Lysosome positioning and mTOR activity in Lowe syndrome.
Lowe syndrome is a rare, developmental disorder caused by mutations in the phosphatase, OCRL. A study in this issue of EMBO Reports shows that OCRL is required for microtubule nucleation and that mutations in this protein lead...
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Autophagy impairment in Parkinson's disease.
Parkinson's disease (PD) is a debilitating movement disorder typically associated with the accumulation of intracytoplasmic aggregate prone protein deposits. Over recent years, increasing evidence has led to the suggestion that...
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The Effect of Using Digital Stories in Teaching English as a Second Language
The purpose of this study is to analyze the effect of using digital storytelling on motivation and learning strategies in foreign language teaching. This study was conducted with 20 students enrolled in the preparatory class to...
Multimodal Integration and Vividness in the Angular Gyrus During Episodic Encoding and Retrieval.
Much evidence suggests that the angular gyrus (AnG) is involved in episodic memory, but its precise role has yet to be determined. We examined two possible accounts within the same experimental paradigm: the "cortical binding of...
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Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We...
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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in...
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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In...
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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Qiao Fan, Alfred Pozarickij, Nicholas Y. Q. Tan, Xiaobo Guo, Virginie J. M. Verhoeven, Veronique Vitart, Jeremy A. Guggenheim, Masahiro Miyake, J. Willem L. Tideman, Anthony P. Khawaja, Liang Zhang, Stuart MacGregor, René Höhn, Peng Chen, Ginevra Biino, Juho Wedenoja, Seyed Ehsan Saffari, Milly S. Tedja, Jing Xie, Carla Lanca, Ya Xing Wang, Srujana Sahebjada, Johanna Mazur, Alireza Mirshahi, Nicholas G. Martin, Seyhan Yazar, Craig E. Pennell, Maurice Yap, Annechien E. G. Haarman, Clair A. Enthoven, JanRoelof Polling, Alex W. Hewitt, Vincent W. V. Jaddoe, Cornelia M. van Duijn, Caroline Hayward, Ozren Polasek, E-Shyong Tai, Hosoda Yoshikatsu, Pirro G. Hysi, Terri L. Young, Akitaka Tsujikawa, Jie Jing Wang, Paul Mitchell, Norbert Pfeiffer, Olavi Pärssinen, Paul J. Foster, Maurizio Fossarello, Shea Ping Yip, Cathy Williams, Christopher J. Hammond, Jost B. Jonas, Mingguang He, David A. Mackey, Tien-Yin Wong, Caroline C. W. Klaver, Seang-Mei Saw, Paul N. Baird, Ching-Yu Cheng, Joan E. Bailey-Wilson, Amutha Barathi Veluchamy, Kathryn P. Burdon, Harry Campbell, Li Jia Chen, Emily Y. Chew, Jamie E. Craig, Phillippa M. Cumberland, Margaret M. Deangelis, Cécile Delcourt, Xiaohu Ding, David M. Evans, Puya Gharahkhani, Adriana I. Iglesias, Toomas Haller, Xikun Han, Quan Hoang, Robert P., Jr. Igo, Sudha K. Iyengar, Mika Kähönen, Jaakko Kaprio, Barbara E. Klein, Ronald Klein, Jonathan H. Lass, Kris Lee, Terho Lehtimäki, Deyana D. Lewis, Qing Li, Shi-Ming Li, Leo-Pekka Lyytikäinen, Akira Meguro, Andres Metspalu, Candace D. Middlebrooks, Nobuhisa Mizuki, Anthony M. Musolf, Stefan Nickels, Konrad Oexle, Chi Pui Pang, Andrew D. Paterson, Jugnoo S. Rahi, Olli Raitakari, Igor Rudan, Dwight Stambolian, Claire L. Simpson, Ningli Wang, Wen Bin Wei, Katie M. Williams, James F. Wilson, Robert Wojciechowski, Kenji Yamashiro, Jason C. S. Yam, Xiangtian Zhou, Tariq Aslam, Sarah A. Barman, Jenny H. Barrett, Paul Bishop, Peter Blows, Catey Bunce, Roxana O. Carare, Usha Chakravarthy, Michelle Chan, Sharon Y. L. Chua, David P. Crabb, Philippa M. Cumberland, Alexander Day, Parul Desai, Bal Dhillon, Andrew D. Dick, Cathy Egan, Sarah Ennis, Marcus Fruttiger, John E. J. Gallacher, David F. Garway-Heath, Jane Gibson, Dan Gore, Alison Hardcastle, Simon P. Harding, Ruth E. Hogg, Pearse A. Keane, Sir Peng T. Khaw, Gerassimos Lascaratos, Andrew J. Lotery, Tom Macgillivray, Sarah Mackie, Keith Martin, Michelle McGaughey, Bernadette McGuinness, Gareth J. McKay, Martin McKibbin, Danny Mitry, Tony Moore, James E. Morgan, Zaynah A. Muthy, Eoin O’Sullivan, Chris G. Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Alicja R. Rudnikca, Jay Self, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Stephen A. Vernon, Ananth C. Viswanathan, Katie Williams, Jayne V. Woodside, Max M. Yates, Jennifer Yip, Yalin Zheng
Feb 17, 2021
Abstract: Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature...
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