Zobrazeno 1 - 10
of 199
pro vyhledávání: '"Terri L. Young"'
Autor:
Benjamin R. Thomson, Pan Liu, Tuncer Onay, Jing Du, Stuart W. Tompson, Sol Misener, Raj R. Purohit, Terri L. Young, Jing Jin, Susan E. Quaggin
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Primary congenital glaucoma (PCG) is characterised by increased intraocular pressure, and variants in ANGPT1, or SVEP1 have been identified as risk alleles. Here, the authors show that deletion of these genes induces glaucoma in mice, and that activa
Externí odkaz:
https://doaj.org/article/e73581bed66f4521bb3bfb4be3144e09
Autor:
Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk l
Externí odkaz:
https://doaj.org/article/ea46188f0f2c4f0cae58f959caf971a2
Autor:
Qiao Fan, Virginie J. M. Verhoeven, Robert Wojciechowski, Veluchamy A. Barathi, Pirro G. Hysi, Jeremy A. Guggenheim, René Höhn, Veronique Vitart, Anthony P. Khawaja, Kenji Yamashiro, S Mohsen Hosseini, Terho Lehtimäki, Yi Lu, Toomas Haller, Jing Xie, Cécile Delcourt, Mario Pirastu, Juho Wedenoja, Puya Gharahkhani, Cristina Venturini, Masahiro Miyake, Alex W. Hewitt, Xiaobo Guo, Johanna Mazur, Jenifer E. Huffman, Katie M. Williams, Ozren Polasek, Harry Campbell, Igor Rudan, Zoran Vatavuk, James F. Wilson, Peter K. Joshi, George McMahon, Beate St Pourcain, David M. Evans, Claire L. Simpson, Tae-Hwi Schwantes-An, Robert P. Igo, Alireza Mirshahi, Audrey Cougnard-Gregoire, Céline Bellenguez, Maria Blettner, Olli Raitakari, Mika Kähönen, Ilkka Seppälä, Tanja Zeller, Thomas Meitinger, Janina S. Ried, Christian Gieger, Laura Portas, Elisabeth M. van Leeuwen, Najaf Amin, André G. Uitterlinden, Fernando Rivadeneira, Albert Hofman, Johannes R. Vingerling, Ya Xing Wang, Xu Wang, Eileen Tai-Hui Boh, M. Kamran Ikram, Charumathi Sabanayagam, Preeti Gupta, Vincent Tan, Lei Zhou, Candice E. H. Ho, Wan’e Lim, Roger W. Beuerman, Rosalynn Siantar, E-Shyong Tai, Eranga Vithana, Evelin Mihailov, Chiea-Chuen Khor, Caroline Hayward, Robert N. Luben, Paul J. Foster, Barbara E. K. Klein, Ronald Klein, Hoi-Suen Wong, Paul Mitchell, Andres Metspalu, Tin Aung, Terri L. Young, Mingguang He, Olavi Pärssinen, Cornelia M. van Duijn, Jie Jin Wang, Cathy Williams, Jost B. Jonas, Yik-Ying Teo, David A. Mackey, Konrad Oexle, Nagahisa Yoshimura, Andrew D. Paterson, Norbert Pfeiffer, Tien-Yin Wong, Paul N. Baird, Dwight Stambolian, Joan E. Bailey Wilson, Ching-Yu Cheng, Christopher J. Hammond, Caroline C. W. Klaver, Seang-Mei Saw, Consortium for Refractive Error and Myopia (CREAM)
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
This report by the Consortium for Refractive Error and Myopia uses gene-environment-wide interaction study (GEWIS) to identify genetic loci that affect environmental influence in myopia development, and identifies ethnic specific genetic loci that at
Externí odkaz:
https://doaj.org/article/b0563139c510416e9a4da61510e1f5d4
Autor:
Sudha Nallasamy, Stefanie L. Davidson, Lori J. Howell, Holly Hedrick, Alan W. Flake, Timothy M. Crombleholme, N. Scott Adzick, Terri L. Young
Publikováno v:
Ophthalmology and Eye Diseases, Vol 2009, Iss 1, Pp 13-19 (2009)
Background: Fetal surgery is selectively offered for severe or life-threatening fetal malformations. These infants are often born prematurely and are thus at risk for retinopathy of prematurity (ROP). It is not known whether fetal surgery confers an
Externí odkaz:
https://doaj.org/article/23066328940b48fb9adec7eae0b76fdf
Autor:
M. Kamran Ikram, Xueling Sim, Richard A. Jensen, Mary Frances Cotch, Alex W. Hewitt, M. Arfan Ikram, Jie Jin Wang, Ronald Klein, Barbara E. K. Klein, Monique M. B. Breteler, Ning Cheung, Gerald Liew, Paul Mitchell, Andre G. Uitterlinden, Fernando Rivadeneira, Albert Hofman, Paulus T. V. M. de Jong, Cornelia M. van Duijn, Linda Kao, Ching-Yu Cheng, Albert Vernon Smith, Nicole L. Glazer, Thomas Lumley, Barbara McKnight, Bruce M. Psaty, Fridbert Jonasson, Gudny Eiriksdottir, Thor Aspelund, Tamara B. Harris, Lenore J. Launer, Kent D. Taylor, Xiaohui Li, Sudha K. Iyengar, Quansheng Xi, Theru A. Sivakumaran, David A. Mackey, Stuart MacGregor, Nicholas G. Martin, Terri L. Young, Josh C. Bis, Kerri L. Wiggins, Susan R. Heckbert, Christopher J. Hammond, Toby Andrew, Samantha Fahy, John Attia, Elizabeth G. Holliday, Rodney J. Scott, F. M. Amirul Islam, Jerome I. Rotter, Annie K. McAuley, Eric Boerwinkle, E. Shyong Tai, Vilmundur Gudnason, David S. Siscovick, Johannes R. Vingerling, Tien Y. Wong
Publikováno v:
PLoS Genetics, Vol 6, Iss 11 (2010)
Externí odkaz:
https://doaj.org/article/2624e0fb7fc34e118559de4e261be917
Autor:
Rosie Clark, Samantha Sze-Yee Lee, Ran Du, Yining Wang, Sander C.M. Kneepkens, Jason Charng, Yu Huang, Michael L. Hunter, Chen Jiang, J.Willem L. Tideman, Ronald B. Melles, Caroline C.W. Klaver, David A. Mackey, Cathy Williams, Hélène Choquet, Kyoko Ohno-Matsui, Jeremy A. Guggenheim, Joan E. Bailey-Wilson, Paul N. Baird, Veluchamy A. Barathi, Ginevra Biino, Kathryn P. Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y. Chew, Jamie E. Craig, Margaret M. Deangelis, Cécile Delcourt, Xiaohu Ding, Qiao Fan, Maurizio Fossarello, Paul J. Foster, Puya Gharahkhani, Xiaobo Guo, Annechien E.G. Haarman, Toomas Haller, Christopher J. Hammond, Xikun Han, Caroline Hayward, Mingguang He, Alex W. Hewitt, Quan Hoang, Pirro G. Hysi, Adriana I. Iglesias, Robert P. Igo, Sudha K. Iyengar, Jost B. Jonas, Mika Kähönen, Jaakko Kaprio, Anthony P. Khawaja, Barbara E. Klein, Jonathan H. Lass, Kris Lee, Terho Lehtimäki, Deyana Lewis, Qing Li, Shi-Ming Li, Leo-Pekka Lyytikäinen, Stuart MacGregor, Nicholas G. Martin, Akira Meguro, Andres Metspalu, Candace Middlebrooks, Masahiro Miyake, Nobuhisa Mizuki, Anthony Musolf, Stefan Nickels, Konrad Oexle, Chi Pui Pang, Olavi Pärssinen, Andrew D. Paterson, Norbert Pfeiffer, Ozren Polasek, Jugnoo S. Rahi, Olli Raitakari, Igor Rudan, Srujana Sahebjada, Seang-Mei Saw, Claire L. Simpson, Dwight Stambolian, E-Shyong Tai, Milly S. Tedja, J. Willem L. Tideman, Akitaka Tsujikawa, Cornelia M. van Duijn, Virginie J.M. Verhoeven, Veronique Vitart, Ningli Wang, Ya Xing Wang, Juho Wedenoja, Wen Bin Wei, Katie M. Williams, James F. Wilson, Robert Wojciechowski, Jason C.S. Yam, Kenji Yamashiro, Maurice K.H. Yap, Seyhan Yazar, Shea Ping Yip, Terri L. Young, Xiangtian Zhou, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Catey Bunce, Roxana Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, Valentina Cipriani, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Alexander Doney, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John Gallacher, David Garway-Heath, Jane Gibson, Dan Gore, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Pearse A. Keane, Peng Tee Khaw, Anthony Khawaja, Gerassimos Lascaratos, Thomas Littlejohns, Andrew Lotery, Phil Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth McKay, Martin McKibbin, Danny Mitry, Tony Moore, James Morgan, Zaynah Muthy, Eoin O'Sullivan, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Nikolas Pontikos, Jugnoo Rahi, Alicja Rudnicka, Jay Self, Panagiotis Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Robyn Tapp, Caroline Thaung, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Stephen Vernon, Ananth Viswanathan, Katie Williams, Jayne Woodside, Max Yates, Jennifer Yip, Yalin Zheng
Publikováno v:
Ebiomedicine, 91
EBioMedicine, 91:104551. Elsevier BV
EBioMedicine, 91:104551. Elsevier
CREAM Consortium & UK Biobank Eye and Vision Consortium 2023, ' A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration ', EBioMedicine, vol. 91, 104551 . https://doi.org/10.1016/j.ebiom.2023.104551
EBioMedicine, 91:104551. Elsevier BV
EBioMedicine, 91:104551. Elsevier
CREAM Consortium & UK Biobank Eye and Vision Consortium 2023, ' A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration ', EBioMedicine, vol. 91, 104551 . https://doi.org/10.1016/j.ebiom.2023.104551
Contains fulltext : 292919.pdf (Publisher’s version ) (Open Access) BACKGROUND: High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degene
Autor:
Ta C, Chang, Linda, Celestin, Elizabeth A, Hodapp, Alana L, Grajewski, Anna, Junk, Adam L, Rothman, Eric R H, Duerr, Swarup S, Swaminathan, Steven J, Gedde, Terri L, Young, Janey, Wiggs, Mildred M G, Olivier, Raquel, Quintanilla, Esdras, Arrieta, Eleonore J, Savatovsky, Elizabeth A, Vanner, Richard K, Parrish
Publikováno v:
Journal of Glaucoma. 31:584-589
Glaucoma cascade screening in first-degree relatives (FDRs) of young Haitian glaucoma patients had high yield for diagnosing manifest and suspected glaucoma in 30.8% of those screened despite modest participation.To evaluate the outcomes of glaucoma
Autor:
Suma P. Shankar, Terri L. Young, Reshmitha Fallurin, Tonya Watson, Deborah Orel-Bixler, Katherine A. Rauen, Prabhu Rv Shankar
Publikováno v:
Ophthalmic Genetics. 43:48-57
Costello syndrome (CS) is a multisystem developmental disorder caused by germline pathogenic variants inVisual function, ocular features and genotype/phenotype correlations were evaluated in CS individuals harboringFifty-six molecularly diagnosed CS
Autor:
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Publikováno v:
Human mutationREFERENCES. 43(12)
The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and
Autor:
UK Biobank Eye, Olavi Pärssinen, Cathy Williams, Juho Wedenoja, Jugnoo S Rahi, Jeremy A. Guggenheim, Annechien E. G. Haarman, Ching-Yu Cheng, Terho Lehtimäki, Joan E. Bailey-Wilson, Myopia (Cream), Mika Kähönen, Xiaohu Ding, Anthony P Khawaja, Jost B. Jonas, Terri L. Young, Mingguang He, Ginevra Biino, Katie M Williams, David A. Mackey, Olli T. Raitakari, J. Willem L. Tideman
Publikováno v:
JAMA Ophthalmol
JAMA Ophthalmology, 139(6), 601-609. American Medical Association
JAMA Ophthalmology, 139(6), 601-609. American Medical Association
Importance: Uncertainty currently exists about whether the same genetic variants are associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and hyperopia. Addressing this question is fundamental to understanding the gene