Zobrazeno 1 - 10
of 11 798
pro vyhledávání: '"Pirro"'
Autor:
Santiago Diaz-Torres, Weixiong He, Regina Yu, IGGC International Glaucoma Genetics Consortium, Anthony P. Khawaja, Christopher J. Hammond, Pirro G. Hysi, Louis R. Pasquale, Yeda Wu, Michiaki Kubo, Masato Akiyama, Tin Aung, Ching-Yu Cheng, Chiea Chuen Khor, Peter Kraft, Jae H. Kang, Alex W. Hewitt, David A. Mackey, Jamie E. Craig, Janey L. Wiggs, Jue-Sheng Ong, Stuart MacGregor, Puya Gharahkhani
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-9 (2024)
Abstract Primary open-angle glaucoma typically presents as two subtypes. This study aimed to elucidate the shared and distinct genetic architectures of normal-tension (NTG) and high-tension glaucoma (HTG), motivated by the need to develop intraocular
Externí odkaz:
https://doaj.org/article/922ae413070b45558acecb577bd65aed
Autor:
Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry, Mafalda Bourbon, Tim D. Spector, Pirro G. Hysi, Khalid A. Fakhro, Mario Falchi
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-6 (2024)
Abstract Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholestero
Externí odkaz:
https://doaj.org/article/e527c5cc1efa4f1c83a245ba65311592
Autor:
Bryan R. Gorman, Michael Francis, Cari L. Nealon, Christopher W. Halladay, Nalvi Duro, Kyriacos Markianos, Giulio Genovese, Pirro G. Hysi, Hélène Choquet, Natalie A. Afshari, Yi-Ju Li, VA Million Veteran Program, J. Michael Gaziano, Adriana M. Hung, Wen-Chih Wu, Paul B. Greenberg, Saiju Pyarajan, Jonathan H. Lass, Neal S. Peachey, Sudha K. Iyengar
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-12 (2024)
Abstract Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular etiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program
Externí odkaz:
https://doaj.org/article/0fe539b9cc3448d380d23ca144eee0cb
Autor:
Rebecca Lelievre, Mohan Rakesh, Pirro G. Hysi, Julian Little, Ellen E. Freeman, Marie-Hélène Roy-Gagnon
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Introduction: Vitamin C is an essential nutrient. Sex differences in serum vitamin C concentrations have been observed but are not fully known. Investigation of levels of metabolites may help shed light on how dietary and other environmental exposure
Externí odkaz:
https://doaj.org/article/bcb1fcbda2dc4c87bf5d6fe2281c5529
Autor:
Ashley Budu-Aggrey, Anna Kilanowski, Maria K. Sobczyk, andMe Research Team, Suyash S. Shringarpure, Ruth Mitchell, Kadri Reis, Anu Reigo, Estonian Biobank Research Team, Reedik Mägi, Mari Nelis, Nao Tanaka, Ben M. Brumpton, Laurent F. Thomas, Pol Sole-Navais, Christopher Flatley, Antonio Espuela-Ortiz, Esther Herrera-Luis, Jesus V. T. Lominchar, Jette Bork-Jensen, Ingo Marenholz, Aleix Arnau-Soler, Ayoung Jeong, Katherine A. Fawcett, Hansjorg Baurecht, Elke Rodriguez, Alexessander Couto Alves, Ashish Kumar, Patrick M. Sleiman, Xiao Chang, Carolina Medina-Gomez, Chen Hu, Cheng-jian Xu, Cancan Qi, Sarah El-Heis, Philip Titcombe, Elie Antoun, João Fadista, Carol A. Wang, Elisabeth Thiering, Baojun Wu, Sara Kress, Dilini M. Kothalawala, Latha Kadalayil, Jiasong Duan, Hongmei Zhang, Sabelo Hadebe, Thomas Hoffmann, Eric Jorgenson, Hélène Choquet, Neil Risch, Pål Njølstad, Ole A. Andreassen, Stefan Johansson, Catarina Almqvist, Tong Gong, Vilhelmina Ullemar, Robert Karlsson, Patrik K. E. Magnusson, Agnieszka Szwajda, Esteban G. Burchard, Jacob P. Thyssen, Torben Hansen, Line L. Kårhus, Thomas M. Dantoft, Alexander C.S.N. Jeanrenaud, Ahla Ghauri, Andreas Arnold, Georg Homuth, Susanne Lau, Markus M. Nöthen, Norbert Hübner, Medea Imboden, Alessia Visconti, Mario Falchi, Veronique Bataille, Pirro Hysi, Natalia Ballardini, Dorret I. Boomsma, Jouke J. Hottenga, Martina Müller-Nurasyid, Tarunveer S. Ahluwalia, Jakob Stokholm, Bo Chawes, Ann-Marie M. Schoos, Ana Esplugues, Mariona Bustamante, Benjamin Raby, Syed Arshad, Chris German, Tõnu Esko, Lili A. Milani, Andres Metspalu, Chikashi Terao, Katrina Abuabara, Mari Løset, Kristian Hveem, Bo Jacobsson, Maria Pino-Yanes, David P. Strachan, Niels Grarup, Allan Linneberg, Young-Ae Lee, Nicole Probst-Hensch, Stephan Weidinger, Marjo-Riitta Jarvelin, Erik Melén, Hakon Hakonarson, Alan D. Irvine, Deborah Jarvis, Tamar Nijsten, Liesbeth Duijts, Judith M. Vonk, Gerard H. Koppelmann, Keith M. Godfrey, Sheila J. Barton, Bjarke Feenstra, Craig E. Pennell, Peter D. Sly, Patrick G. Holt, L. Keoki Williams, Hans Bisgaard, Klaus Bønnelykke, John Curtin, Angela Simpson, Clare Murray, Tamara Schikowski, Supinda Bunyavanich, Scott T. Weiss, John W. Holloway, Josine L. Min, Sara J. Brown, Marie Standl, Lavinia Paternoster
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, repli
Externí odkaz:
https://doaj.org/article/0be31a11c21947239dd707b702139765
Autor:
Wendy W. Liu, Tyler G. Kinzy, Jessica N. Cooke Bailey, Zihe Xu, Pirro Hysi, Janey L. Wiggs, NEIGHBORHOOD Consortium
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Although glaucoma is a disease modulated by eye pressure, the mechanisms of pressure sensing in the eye are not well understood. Here, we investigated associations between mechanosensitive ion channel gene variants and primary open-angle gla
Externí odkaz:
https://doaj.org/article/71e99a7591124c8bbe41fc3b922d5713
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Necessity driven organisational change in the post-pandemic landscape has seen health care providers adopting innovations to manage and process health data. These include the use of ‘real-world’ datasets of routinely collected clinical i
Externí odkaz:
https://doaj.org/article/57985557f5c6498dbbc6375035800b42
Autor:
Oana A. Zeleznik, Jae H. Kang, Jessica Lasky-Su, A. Heather Eliassen, Lisa Frueh, Clary B. Clish, Bernard A. Rosner, Tobias Elze, Pirro Hysi, Anthony Khawaja, Janey L. Wiggs, Louis R. Pasquale, UK Biobank Eye and Vision Consortium
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
Abstract Glaucoma is a progressive optic neuropathy and a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma is the most common form, and yet the etiology of this multifactorial disease is poorly understood. We aimed to id
Externí odkaz:
https://doaj.org/article/036821c4b5e24ab5a64ae72665362fa8
Autor:
Anthony M. Musolf, Annechien E. G. 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 J. M. Verhoeven, Caroline C. W. Klaver, Joan E. Bailey-Wilson
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-17 (2023)
A multi-ethnic meta-analysis of exome array data from over 27,000 participants identifies several rare variants that could contribute to risk of ocular refractive error.
Externí odkaz:
https://doaj.org/article/bd8c4caa72a641eab1075fd26afb62da
Autor:
Martin McKibbin, Tariq Aslam, Sarah Barman, Jenny Barrett, Paul Bishop, Roxana Carare, Usha Chakravarthy, Michelle Chan, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John Gallacher, Jane Gibson, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Anthony Khawaja, Gerassimos Lascaratos, Andrew Lotery, Phil Luthert, Tom Macgillivray, Sarah Mackie, Bernadette Mcguinness, Gareth Mckay, Tony Moore, James Morgan, Eoin O’sullivan, Chris Owen, Praveen Patel, Euan Paterson, Axel Petzold, Alicja Rudnicka, Paul J Foster, Naomi Allen, Peng Tee Khaw, Praveen J Patel, Konstantinos Balaskas, Richard Oram, Robert Luben, Tasanee Braithwaite, Graeme Black, Christopher G Owen, Zihan Sun, David Garway-Heath, Thomas Littlejohns, Simon Sheard, Sharon Chua, Pearse Keane, Denize Atan, Savita Madhusudhan, Alexander Doney
Publikováno v:
BMJ Open, Vol 13, Iss 6 (2023)
Purpose The retina provides biomarkers of neuronal and vascular health that offer promising insights into cognitive ageing, mild cognitive impairment and dementia. This article described the rationale and methodology of eye and vision assessments wit
Externí odkaz:
https://doaj.org/article/7aa3818d8e5e4fc3b026f8c7a9faa59c