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Results: 90927
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.
Pirro G Hysi, Hélène Choquet, Anthony P Khawaja, Robert Wojciechowski, Milly S Tedja, Jie Yin, Mark J Simcoe, Karina Patasova, Omar A Mahroo, Khanh K Thai, Phillippa M Cumberland, Ronald B Melles, Virginie JM Verhoeven, Veronique Vitart, Ayellet Segre, Richard A Stone, Nick Wareham, Alex W Hewitt, David A Mackey, Caroline CW Klaver, Stuart MacGregor, Consortium for Refractive Error and Myopia, Peng T Khaw, Paul J Foster, UK Eye and Vision Consortium, Jeremy A Guggenheim, 23andMe Inc., Jugnoo S Rahi, Eric Jorgenson, Christopher J Hammond
Jan 14, 2021
Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired...
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Anthony M Musolf, Annechien EG Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, Consortium for Refractive Error and Myopia (CREAM), Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M van Duijn, Virginie JM Verhoeven, Caroline CW Klaver, Joan E Bailey-Wilson
Feb 09, 2023
Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or...
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia
Qiao Fan, Xiaobo Guo, J Willem L Tideman, Katie M Williams, Seyhan Yazar, S Mohsen Hosseini, Laura D Howe, Beaté St Pourcain, David M Evans, Nicholas J Timpson, George McMahon, Pirro G Hysi, Eva Krapohl, Ya Xing Wang, Jost B Jonas, Paul Nigel Baird, Jie Jin Wang, Ching-Yu Cheng, Yik-Ying Teo, Tien-Yin Wong, Xiaohu Ding, Robert Wojciechowski, Terri L Young, Olavi Pärssinen, Konrad Oexle, Norbert Pfeiffer, Joan E Bailey-Wilson, Andrew D Paterson, Caroline CW Klaver, Robert Plomin, Christopher J Hammond, David A Mackey, Mingguang He, Seang-Mei Saw, Cathy Williams, Jeremy A Guggenheim, CREAM Consortium
Aug 03, 2018
Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here...
Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.
Previous studies have suggested that naturally occurring genetic variation contributes to the risk of astigmatism. The purpose of this investigation was to identify genetic markers associated with corneal and refractive...
Astigmatism Biological Specimen Banks Cornea Corneal Diseases Female Genetic Predisposition to Disease Genome-Wide Association Study Guanine Nucleotide Exchange Factors Humans Male Middle Aged Myopia Nuclear Proteins Polymorphism Single Nucleotide Ubiquitin-Protein Ligases United Kingdom White People
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 YQ Tan, Xiaobo Guo, Virginie JM 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 EG Haarman, Clair A Enthoven, JanRoelof Polling, Consortium for Refractive Error and Myopia (CREAM), UK Biobank Eye and Vision Consortium, Alex W Hewitt, Vincent WV 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 CW Klaver, Seang-Mei Saw, Paul N Baird, Ching-Yu Cheng
Mar 19, 2021
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...
Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia
Abstract: Background: Population studies suggest that genetic factors play an important role in refractive error development; however, the precise role of genetic background and the composition of the signaling pathways...
Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia.
BACKGROUND: Population studies suggest that genetic factors play an important role in refractive error development; however, the precise role of genetic background and the composition of the signaling pathways underlying...
Evolutionary conservation of pathways Gene-based genome-wide association analysis Genetic networks genetic variation Myopia RNA-seq Refractive eye development Signaling pathways Animals Chromosomes Human Collaborative Cross Mice Eye Gene Regulatory Networks Genetic Predisposition to Disease Humans Mice Myopia Refraction Ocular Retina Signal Transduction
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Milly S Tedja, Robert Wojciechowski, Pirro G Hysi, Nicholas Eriksson, Nicholas A Furlotte, Virginie JM Verhoeven, Adriana I Iglesias, Magda A Meester-Smoor, Stuart W Tompson, Qiao Fan, Anthony P Khawaja, Ching-Yu Cheng, René Höhn, Kenji Yamashiro, Adam Wenocur, Clare Grazal, Toomas Haller, Andres Metspalu, Juho Wedenoja, Jost B Jonas, Ya Xing Wang, Jing Xie, Paul Mitchell, Paul J Foster, Barbara EK Klein, Ronald Klein, Andrew D Paterson, S Mohsen Hosseini, Rupal L Shah, Cathy Williams, Yik Ying Teo, Yih Chung Tham, Preeti Gupta, Wanting Zhao, Yuan Shi, Woei-Yuh Saw, E-Shyong Tai, Xue Ling Sim, Jennifer E Huffman, Ozren Polašek, Caroline Hayward, Goran Bencic, Igor Rudan, James F Wilson, CREAM Consortium, 23andMe Research Team, UK Biobank Eye and Vision Consortium, Peter K Joshi, Akitaka Tsujikawa, Fumihiko Matsuda, Kristina N Whisenhunt, Tanja Zeller, Peter J van der Spek, Roxanna Haak, Hanne Meijers-Heijboer, Elisabeth M van Leeuwen, Sudha K Iyengar, Jonathan H Lass, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Johannes R Vingerling, Terho Lehtimäki, Olli T Raitakari, Ginevra Biino, Maria Pina Concas, Tae-Hwi Schwantes-An, Robert P Igo, Gabriel Cuellar-Partida, Nicholas G Martin, Jamie E Craig, Puya Gharahkhani, Katie M Williams, Abhishek Nag, Jugnoo S Rahi, Phillippa M Cumberland, Cécile Delcourt, Céline Bellenguez, Janina S Ried, Arthur A Bergen, Thomas Meitinger, Christian Gieger, Tien Yin Wong, Alex W Hewitt, David A Mackey, Claire L Simpson, Norbert Pfeiffer, Olavi Pärssinen, Paul N Baird, Veronique Vitart, Najaf Amin, Cornelia M van Duijn, Joan E Bailey-Wilson, Terri L Young, Seang-Mei Saw, Dwight Stambolian, Stuart MacGregor, Jeremy A Guggenheim, Joyce Y Tung, Christopher J Hammond, Caroline CW Klaver
Jul 29, 2019
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505...
Relation of Axial Length with Corneal Curvature of the eye in adult subjects with refractive error
Jyoti Arora, Prachi Saffar Aneja, Pankaj Mehta, Anil Kumar, Vijay Kumar Roy, Baljit Kaur Randhawa, K.D. Singh, Avnish Kumar
Jul 07, 2015
BACKGROUND: The second most common reason for blindness worldwide is refractive error. Not only is the global burden of refractive error very high, but also increasing day by day. A number of associated serious complications and...
Published by: IJHS Medical Association
Relation of Axial Length with Corneal Curvature of the eye in adult subjects with refractive error
Jyoti Arora, Prachi Saffar Aneja, Pankaj Mehta, Anil Kumar, Vijay Kumar Roy, Baljit Kaur Randhawa, K.D. Singh, Avnish Kumar
Jul 07, 2015
BACKGROUND: The second most common reason for blindness worldwide is refractive error. Not only is the global burden of refractive error very high, but also increasing day by day. A number of associated serious complications and...
Published by: IJHS Medical Association
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Anthony M Musolf, Annechien EG Haarman, Robert N Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D Lewis, Milly S Tedja, Adriana I Iglesias, Hengtong Li, Cameron S Cowan, Consortium for Refractive Error and Myopia (CREAM), Ginevra Biino, Alison P Klein, Priya Duggal, David A Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G Hysi, Anthony P Khawaja, Veronique Vitart, Christopher J Hammond, Cornelia M van Duijn, Virginie JM Verhoeven, Caroline CW Klaver, Joan E Bailey-Wilson
Jan 04, 2023
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
Myopia disease mouse models
Katarzyna I Szczerkowska, Silvia Petrezselyova, Jiri Lindovsky, Marcela Palkova, Jan Dvorak, Peter Makovicky, Mingyan Fang, Chongyi Jiang, Lingyan Chen, Mingming Shi, Xiao Liu, Jianguo Zhang, Agnieszka Kubik-Zahorodna, Bjoern Schuster, Inken M Beck, Vendula Novosadova, Jan Prochazka, Radislav Sedlacek
Feb 24, 2020
Zinc finger 644 (Zfp644 in mouse, ZNF644 in human) gene is a transcription factor whose mutation S672G is considered a potential genetic factor of inherited high myopia. ZNF644 interacts with G9a/GLP complex, which functions as...
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
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...
Restoration of visual acuity with “ISOTINE” eye drops -an Ayurvedic formulation
Approximately 8 million to 2.3 million people worldwide have impaired vision due to uncorrected refractive error and cataract1. Hence the World Health Organization (WHO) has initiated Vision 2020 global program – “The right to...
Published by: IJHS Medical Association
Big data from electronic health records for early and late translational cardiovascular research
Harry Hemingway, Folkert W Asselbergs, John Danesh, Richard Dobson, Nikolaos Maniadakis, Aldo Maggioni, Ghislaine JM van Thiel, Maureen Cronin, Gunnar Brobert, Panos Vardas, Stefan D Anker, Diederick E Grobbee, Spiros Denaxas, Big Data for Better Outcomes, BigData@Heart Consortium of 20 academic and industry partners including ESC Innovative Medicines Initiative 2nd programme
Jul 30, 2018
AIMS: Cohorts of millions of people's health records, whole genome sequencing, imaging, sensor, societal and publicly available data present a rapidly expanding digital trace of health. We aimed to critically review, for the...
Restoration of visual acuity with “ISOTINE” eye drops -an Ayurvedic formulation
Approximately 8 million to 2.3 million people worldwide have impaired vision due to uncorrected refractive error and cataract1. Hence the World Health Organization (WHO) has initiated Vision 2020 global program – “The right to...
Published by: IJHS Medical Association
Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Keiji Fukuda, Direk Limmathurotsakul, Iruka N Okeke, Nandini Shetty, Rogier van Doorn, Nicholas A Feasey, Francesca Chiara, Ghada Zoubiane, Tim Jinks, Julian Parkhill, Jean Patel, Stuart WJ Reid, Alison H Holmes, Sharon J Peacock, Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Nov 05, 2018
In recognition of the central importance of surveillance and epidemiology in the control of antimicrobial resistance and the need to strengthen surveillance at all levels, Wellcome has brought together a new international expert...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Proposing a Library Consortium Model for National Development in Zimbabwe
Collence Chisita
Jul 01, 2021
Globally library cooperation and collaboration is transforming the scholarship landscape as academic libraries battle to survive amidst escalating costs of subscriptions. Zimbabwe is no exception to this phenomenon as evidenced...
Published by: IGI Global Scientific Publishing
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