Zobrazeno 1 - 10
of 128
pro vyhledávání: '"John R.W. Yates"'
Autor:
Fiona McEwen, Charlotte Tye, Holan Liang, Emma Woodhouse, Lisa Underwood, Elizabeth Shephard, Edward D. Barker, Fintan Sheerin, Juul W. Steenbruggen, John R.W. Yates, Patrick F. Bolton
Background: Tuberous Sclerosis Complex (TSC) is a single gene disorder carrying high risk of autism spectrum disorder (ASD). Various neurological complications increase the risk of ASD but the way risk factors operate together is unclear. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c223d96fdd5d72c01b6601c94d4d047c
https://doi.org/10.31234/osf.io/crjpy
https://doi.org/10.31234/osf.io/crjpy
Autor:
Panagiotis I. Sergouniotis, Simon J. Clark, Paul N. Bishop, Valentina Cipriani, John R.W. Yates, Verena Zuber, Richard D. Unwin, Anthony T. Moore, John R. Griffiths, Anna Tierney
Publikováno v:
American journal of human genetics, vol 108, iss 8
American Journal of Human Genetics
Cipriani, V, Tierney, A, Griffiths, J, Zuber, V, Sergouniotis, P, Yates, J R W, Moore, A T, Bishop, P, Clark, S & Unwin, R 2021, ' Beyond factor H : The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations ', American Journal of Human Genetics, vol. 108, no. 8, pp. 1385-1400 . https://doi.org/10.1016/j.ajhg.2021.05.015
American Journal of Human Genetics
Cipriani, V, Tierney, A, Griffiths, J, Zuber, V, Sergouniotis, P, Yates, J R W, Moore, A T, Bishop, P, Clark, S & Unwin, R 2021, ' Beyond factor H : The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations ', American Journal of Human Genetics, vol. 108, no. 8, pp. 1385-1400 . https://doi.org/10.1016/j.ajhg.2021.05.015
Age-related macular degeneration (AMD) is a leading cause of vision loss; there is strong genetic susceptibility at the complement factor H (CFH) locus. This locus encodes a series of complement regulators: factor H (FH), a splice variant factor-H-li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1548436db7eff43afd77a888e4434a14
https://escholarship.org/uc/item/8kn58586
https://escholarship.org/uc/item/8kn58586
Autor:
Itay Chowers, Stacy M Meuer, R. Theodore Smith, Bamini Gopinath, Brendan J Vote, Thierry Léveillard, David A Mackey, Dwight Stambolian, Jamie E Craig, José-Alain Sahel, David J Hunter, Michael L Klein, Jane Romm, Robyn H Guymer, Mingyao Li, J. L. Haines, Emily L. Moore, J Allie McGrath, Chloe M. Stanton, Danni Lin, Jessica N Cooke Bailey, Anton Orlin, Anita Agarwal, Frank G Holz, Debra A Schaumberg, Valerie Kuan, Christine A. Curcio, Ken Flagg, Sudha K Iyengar, Sebanti Sengupta, Bal Dhillon, Joanna E. Merriam, Janette Hall, Bernhard H F Weber, Caroline Brandl, Donald Zack, Eric Souied, Yara T. E. Lechanteur, Christina A Rennie, Mathias Gorski, Murray H Brilliant, Denise J. Morgan, Barbara Truitt, Daniel E Weeks, Thomas Langmann, Aroon D. Hingorani, Gerald Liew, Andrea J Richardson, Neal S Peachey, John Blangero, Alasdair Warwick, Humma Shahid, Eiko K de Jong, Kari E Branham, S. V. Goverdhan, Paul Mitchell, Angela J Cree, Margaux A. Morrison, Rebecca J Sardell, Ian J Constable, Michael A. Hauser, Zhenglin Yang, Reneé Laux, G. Rudolph, David Cho, Jie Jin Wang, Albert Caramoy, Jaclyn L Kovach, Alexander Brucker, Frédéric Blond, Hongrong Luo, Michael B Gorin, Robert P Igo, Caroline C W Klaver, Lebriz Ersoy, Timothy Isaacs, Adnan Tufail, Gabriëlle H.S. Buitendijk, Nicholas Katsanis, Stephen Burgess, Carel B Hoyng, Reecha Sofat, Ivana K Kim, Mohammad Othman, Ian L McAllister, Giuliana Silvestri, Helena Hai Liang, Margaret DeAngelis, Matthew P Johnson, Ava G Tan, Felix Grassmann, Lindsay A Farrer, Alex W Hewitt, Hong Ouyang, Cindy Wen, Henry Ferreyra, Milam A Brantley, Melinda Cain, Caroline Hayward, Kristine E. Lee, Linn Gieser, Isabelle Audo, Evangelia E Tsironi, Nicole T.M. Saksens, Hendrik P N Scholl, Stephen G Schwartz, Matthias Olden, Saddek Mohand-Said, Scott J Hebbring, Joshua D Hoffman, Shira Hagbi-Levi, Anthony T Moore, Mustapha Benchaboune, Lars G Fritsche, Margaret A Pericak-Vance, Iris M Heid, Kyu Hyung Park, Jennifer L Bragg-Gresham, Hélène Blanché, Alexis Boleda, Rando Allikmets, John R Heckenlively, Kathryn P Burdon, Elisa Bala, Rinki Ratnapriya, Kimberly F Doheny, Xiaowei Zhan, Sascha Fauser, Claudia N von Strachwitz, Ronald Klein, Johanna R. Foerster, Wilmar Igl, Andrew J Lotery, Klaus Stark, Matthew Brooks, Jane C Khan, Emily Y Chew, Paul N Baird, Cornelia M Van Duijn, Chelsea E. Myers, Anneke I den Hollander, Monique D Courtenay, Zhiguang Su, Yingda Jiang, William K Scott, Tammy M Martin, Armin Wolf, Jeeyun Ahn, John C. Merriam, Eric A Postel, Guanping Mao, Emmanuelle Souzeau, Barbara E K Klein, Terrie Kitchner, Stewart Lake, Anand Swaroop, Valentina Cipriani, Tina Schick, Stephanie A. Hagstrom, Alan M. Kwong, Daniel Chen, Gonçalo R. Abecasis, Matthew Schu, Michelle Grunin, John R.W. Yates, Peter Campochiaro, Kang Zhang, Jean-François Deleuze
Publikováno v:
JAMA Ophthalmology. 139:1299
Importance Advanced age-related macular degeneration (AMD) is a leading cause of blindness in Western countries. Causal, modifiable risk factors need to be identified to develop preventive measures for advanced AMD. Objective To assess whether smokin
Autor:
Fan He, Eiko K. de Jong, Laura Lorés-Motta, John R.W. Yates, Sascha Fauser, Anthony T. Moore, B. Paul Morgan, Nadhim Bayatti, Selina McHarg, Ilhan Erkin Acar, Simon J. Clark, Anneke I. den Hollander, Carel B. Hoyng, Paul N. Bishop, Valentina Cipriani, Dina Fathalla, Viranga Tilakaratna
Publikováno v:
Nature Communications
Nature Communications, 11
Cipriani, V, Lores-Motta, L, He, F, Fathalla, D, Tilakaratna, V, Mcharg, S, Bayatti, N, Acar, I E, Hyong, C B, Fauser, S, Moore, A T, Yates, J R W, de Jong, E K, Morgan, B P, den Hollander, A I, Bishop, P & Clark, S 2020, ' Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration ', Nature Communications, vol. 11, no. 1, 778, pp. 778 . https://doi.org/10.1038/s41467-020-14499-3
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature communications, vol 11, iss 1
Nature Communications, 11, 1
Nature Communications, 11
Cipriani, V, Lores-Motta, L, He, F, Fathalla, D, Tilakaratna, V, Mcharg, S, Bayatti, N, Acar, I E, Hyong, C B, Fauser, S, Moore, A T, Yates, J R W, de Jong, E K, Morgan, B P, den Hollander, A I, Bishop, P & Clark, S 2020, ' Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration ', Nature Communications, vol. 11, no. 1, 778, pp. 778 . https://doi.org/10.1038/s41467-020-14499-3
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature communications, vol 11, iss 1
Nature Communications, 11, 1
Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic variants at the chromosome 1q31.3 encompassing the complement factor H (CFH, FH) and CFH related genes (CFHR1-5) are major determinants of AMD susceptibility, but their m
Autor:
Fiona McEwen, John R.W. Yates, Emma Woodhouse, Patrick Bolton, Holan Liang, Lisa Underwood, Fintan Sheerin, Charlotte Tye, Edward D. Barker
Publikováno v:
Tye, C, McEwen, F, Liang, H-L, Underwood, L, Woodhouse, E, Barker, E, Sheerin, F, Higgins, N, Steenbruggen, J, Yates, J R W, Bolton, P F 2019, ' Long-term cognitive outcomes in tuberous sclerosis complex ', Developmental Medicine and Child Neurology . https://doi.org/10.1111/dmcn.14356
Aim: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC). Method: The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::995aac2555c66284b80f4ecf0a9d16fa
https://kclpure.kcl.ac.uk/en/publications/bf265803-76f0-4728-8b97-5d1c024fa218
https://kclpure.kcl.ac.uk/en/publications/bf265803-76f0-4728-8b97-5d1c024fa218
Autor:
Ruth E Hogg, John R.W. Yates, Anthony T. Moore, Valentina Cipriani, Astrid E. Fletcher, Andrew R. Webster, Reecha Sofat
Publikováno v:
JAMA Ophthalmol
European Eye (EUREYE) Study Group. 2017, ' Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration. ', JAMA Ophthalmology, vol. 135, no. 9, pp. 909-916 . https://doi.org/10.1001/jamaophthalmol.2017.2191
European Eye (EUREYE) Study Group. 2017, ' Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration. ', JAMA Ophthalmology, vol. 135, no. 9, pp. 909-916 . https://doi.org/10.1001/jamaophthalmol.2017.2191
Importance:C-reactive protein (CRP) is a circulating inflammatory marker associated with late age-related macular degeneration (AMD). It remains uncertain whether the association between CRP concentrations and AMD is causal.Objective:To assess whethe
Publikováno v:
KONA Powder and Particle Journal, Vol 20, Iss 0, Pp 133-143 (2014)
The attenuation of a beam of X-rays as it passes through a body has been used for over 100 years in diagnostic medicine. A more recent application of the technique has been in the study of industrial-type units such as gas-solid fluidized beds, and t
Autor:
Paul Mitchell, Lindsay A. Farrer, Ming Zhang, Mohammad Othman, Michiaki Kubo, André G. Uitterlinden, Anton Orlin, Kyu Hyung Park, Simon P. Harding, Yusuke Nakamura, Eric H Souied, William K. Scott, Gregory S. Hageman, Anita Agarwal, G. Rudolph, Henry Ferreyra, Yutaka Kiyohara, Humma Shahid, Yukinori Okada, Gregory Hannum, Hendrik P. N. Scholl, Christian Gieger, Clara Lee, H.-Erich Wichmann, Andrew R. Webster, Margaret A. Pericak-Vance, Brian L. Yaspan, Bernhard H. F. Weber, Gyungah Jun, Gabriëlle H.S. Buitendijk, Ching-Yu Cheng, Igor Kozak, Ana Maria Armbrecht, Gaetano R. Barile, Valentina Cipriani, Stephanie A. Hagstrom, Paul N. Baird, Margaret M. DeAngelis, Ronald Klein, Itay Chowers, Matthew Brooks, Mark J. Daly, Kimberly A Chin, Wei Chen, Thierry Léveillard, Cornelia M. van Duijn, Barbara E.K. Klein, Tien Yin Wong, Olivier Poch, Yi Yu, Peter Lichtner, Michael L. Klein, Lars G. Fritsche, Daniel E. Weeks, Radu Cojocaru, Gayle J.T. Pauer, Jaclyn L. Kovach, John R. Heckenlively, Jonathan L. Haines, Andrew J. Lotery, Nicholas Katsanis, Caroline C W Klaver, Stephan Ripke, Unnur Thorsteinsdottir, M. Carolina Ortube, Rando Allikmets, Nirubol Tosakulwong, Barbara Truitt, Robert P. Igo, Johanna M. Seddon, Kristine E. Lee, Emily Y. Chew, Kang Zhang, Debra A. Schaumberg, David Clayton, Frank G. Holz, Robyn Reynolds, Matthew Schu, Neal S. Peachey, Neel Gupta, Tatsuro Ishibashi, William Cade, Melinda Cain, Gwen M. Sturgill-Short, Jane C. Khan, Asbjorg Geirsdottir, Atsushi Takahashi, Thomas Meitinger, Belinda K. Cornes, Xueling Sim, Raymond Ripp, Evangelos Evangelou, Saddek Mohand-Said, Albert O. Edwards, Theru A. Sivakumaran, John P. A. Ioannidis, Kari Branham, Peronne Joseph, Jie Jin Wang, Chelsea E. Myers, Thomas W. Winkler, Johannes R. Vingerling, Robyn H. Guymer, Anthony T. Moore, Christos Haritoglou, Peter A. Campochiaro, Ronnie George, Chi-Chao Chan, Sudha K. Iyengar, Lucia Sobrin, Eranga N. Vithana, Haraldur Sigurdsson, James S. Friedman, Guy Hughes, Baljean Dhillon, Lingam Vijaya, Alan F. Wright, José-Alain Sahel, Rinki Ratna Priya, Tin Aung, R. Theodore Smith, Isabelle Audo, Satoshi Arakawa, Alexander J. Brucker, Gonçalo R. Abecasis, Evangelia E. Tsironi, Anand Swaroop, Mark Lathrop, Mustapha Benchaboune, Diana Zelenika, Joanna E. Merriam, Iris M. Heid, Denise J. Morgan, Michael B. Gorin, Donald J. Zack, Ling Zhao, Hreinn Stefansson, Andrea J. Richardson, Yvette P. Conley, Kari Stefansson, Giuliana Silvestri, Yoichiro Kamatani, Ivana K. Kim, Gudmar Thorleifsson, Stephen G. Schwartz, Alan C. Bird, Claudia N. Keilhauer, Euijung Ryu, Margaux A. Morrison, Chris Pappas, Dwight Stambolian, John R.W. Yates, Paul N. Bishop, Jesen Fagerness, Adam C. Naj, Peter J. Francis
Publikováno v:
Nature genetics
Fritsche, L G, Chen, W, Schu, M, Yaspan, B L, Yu, Y, Thorleifsson, G, Zack, D J, Arakawa, S, Cipriani, V, Ripke, S, Igo, R P, Buitendijk, G H S, Sim, X, Weeks, D E, Guymer, R H, Merriam, J E, Francis, P J, Hannum, G, Agarwal, A, Armbrecht, A M, Audo, I, Aung, T, Barile, G R, Benchaboune, M, Bird, A C, Bishop, P N, Branham, K E, Brooks, M, Brucker, A J, Cade, W H, Cain, M S, Campochiaro, P A, Chan, C-C, Cheng, C-Y, Chew, E Y, Chin, K A, Chowers, I, Clayton, D G, Cojocaru, R, Conley, Y P, Cornes, B K, Daly, M J, Dhillon, B, Edwards, A O, Evangelou, E, Fagerness, J, Ferreyra, H A, Friedman, J S & Geirsdottir, A & Wright, A F 2013, ' Seven new loci associated with age-related macular degeneration ', Nature Genetics, vol. 45, no. 4, pp. 433-439 . https://doi.org/10.1038/ng.2578
Nature Genetics, 45(4), 433-439. Nature Publishing Group
Fritsche, L G, Chen, W, Schu, M, Yaspan, B L, Yu, Y, Thorleifsson, G, Zack, D J, Arakawa, S, Cipriani, V, Ripke, S, Igo, R P, Buitendijk, G H S, Sim, X, Weeks, D E, Guymer, R H, Merriam, J E, Francis, P J, Hannum, G, Agarwal, A, Armbrecht, A M, Audo, I, Aung, T, Barile, G R, Benchaboune, M, Bird, A C, Bishop, P N, Branham, K E, Brooks, M, Brucker, A J, Cade, W H, Cain, M S, Campochiaro, P A, Chan, C-C, Cheng, C-Y, Chew, E Y, Chin, K A, Chowers, I, Clayton, D G, Cojocaru, R, Conley, Y P, Cornes, B K, Daly, M J, Dhillon, B, Edwards, A O, Evangelou, E, Fagerness, J, Ferreyra, H A, Friedman, J S & Geirsdottir, A & Wright, A F 2013, ' Seven new loci associated with age-related macular degeneration ', Nature Genetics, vol. 45, no. 4, pp. 433-439 . https://doi.org/10.1038/ng.2578
Nature Genetics, 45(4), 433-439. Nature Publishing Group
Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 adv
Autor:
Jane C. Khan, Alan C. Bird, Humma Shahid, T. Sepp, John R.W. Yates, D A Thurlby, David Clayton, Anthony T. Moore
PURPOSE: The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with susceptibility to age-related macular degeneration (AMD). The purpose of this study was to confirm this association in a U.K. population, to determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18c52baf5c6370c362765d926c5ab2ff
https://ora.ox.ac.uk/objects/uuid:57adc63b-29db-41f8-954b-453f43edac4c
https://ora.ox.ac.uk/objects/uuid:57adc63b-29db-41f8-954b-453f43edac4c
Autor:
Anthony T. Moore, John R.W. Yates, Humma Shahid, Jane C. Khan, Shamik Polley, Edward J. Hollox, Valentina Cipriani
Publikováno v:
BMC Medical Genetics
BMC medical genetics, vol 17, iss 1
BMC medical genetics, vol 17, iss 1
Background DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway. It lies next to the ARMS2/HTRA1 genes in a region of