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Articles, 55 records found
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A saturated map of common genetic variants associated with human height / Yengo, Loic (The University of Queensland) ; Vedantam, Sailaja (Program in Medical and Population Genetics. Broad Institute of MIT and Harvard) ; Marouli, Eirini (William Harvey Research Institute. Barts and the London School of Medicine and Dentistry. Queen Mary University of London) ; Sidorenko, Julia (Institute for Molecular Bioscience. The University of Queensland) ; Bartell, Eric (Harvard Medical School) ; Sakaue, Saori (Divisions of Genetics and Rheumatology. Brigham and Women's Hospital and Department of Medicine. Harvard Medical School) ; Graff, Marielisa (Gillings School of Global Public Health. University of North Carolina at Chapel Hill) ; Eliasen, Anders U. (Section for Bioinformatics. Department of Health Technology. Technical University of Denmark) ; Jiang, Yunxuan (23andMe) ; Raghavan, Sridharan (Division of Biomedical Informatics and Personalized Medicine) ; Miao, Jenkai (Broad Institute of MIT and Harvard) ; Arias, Joshua D. (National Cancer Institute) ; Graham, Sarah E. (University of Michigan) ; Mukamel, Ronen E. (Harvard Medical School) ; Spracklen, Cassandra N. (University of Massachusetts) ; Yin, Xianyong (University of Michigan School of Public Health) ; Chen, Shyh-Huei (Wake Forest School of Medicine) ; Ferreira, Teresa (University of Oxford) ; Highland, Heather H. (University of North Carolina at Chapel Hill) ; Ji, Yingjie (University of Exeter) ; Karaderi, Tugce (University of Oxford) ; Lin, Kuang (Nuffield University of Oxford) ; Lüll, Kreete (University of Tartu) ; Malden, Deborah (University of Oxford) ; Medina-Gomez, Carolina (University Medical Center Rotterdam) ; Machado, Moara (National Cancer Institute) ; Moore, Amy (RTI International) ; Rüeger, Sina (Swiss Institute of Bioinformatics) ; Sim, Xueling (National University of Singapore) ; Vrieze, Scott (University of Minnesota) ; Ahluwalia, Tarunveer Singh (University of Copenhagen) ; Akiyama, Masato (Kyushu University) ; Allison, Matthew A. (University of California (San Diego, Estats Units)) ; Álvarez, Marcus (David Geffen School of Medicine) ; Andersen, Mette korre (University of Copenhagen) ; Ani, Alireza (Isfahan University of Medical Sciences) ; Appadurai, Vivek (Copenhagen University Hospital) ; Arbeeva, Liubov (University of North Carolina) ; Bhaskar, Seema (CSIR-Centre for Cellular and Molecular Biology) ; Bielak, Lawrence F. (University of Michigan School of Public Health) ; Bollepalli, Sailalitha (University of Helsinki) ; Bonnycastle, Lori L. (National Institutes of Health) ; Bork-Jensen, Jette (University of Copenhagen) ; Bradfield, J.P. (Quantinuum Research) ; Bradford, Y. (University of Pennsylvania) ; Braund, P.S. (Glenfield Hospital) ; Brody, J.A. (University of Washington) ; Burgdorf, K.S. (Copenhagen University) ; Cade, B.E. (Brigham and Women's Hospital) ; Cai, H. (Vanderbilt University Medical Center) ; Cai, Q. (Vanderbilt University Medical Center) ; Campbell, A. (University of Edinburgh) ; Cañadas-Garre, M. (Queen's University of Belfast) ; Catamo, E. (Burlo Garofolo) ; Chai, J.F. (National University of Singapore and National University Health System) ; Chai, X. (National University of Singapore and National University Health System) ; Chang, L.C. (Academia Sinica) ; Chang, Y.C. (National Taiwan University Hospital) ; Chen, C.H. (Academia Sinica) ; Chesi, A. (Children's Hospital of Philadelphia) ; Choi, S.H. (Broad Institute of MIT and Harvard) ; Chung, R.H. (National Health Research Institutes) ; Cocca, M. (Burlo Garofolo) ; Concas, M.P. (Burlo Garofolo) ; Couture, C. (Université Laval) ; Cuellar-Partida, Gabriel (University of Queensland Diamantina Institute) ; Danning, R. (Brigham and Women's Hospital) ; Daw, E.W. (Washington University School of Medicine) ; Degenhard, F. (Christian-Albrechts University of Kiel) ; Delgado, G.E. (Heidelberg University) ; Delitala, A. (Università degli Studi di Sassari) ; Demirkan, A. (University of Surrey) ; Deng, X. (Boston University School of Public Health) ; Devineni, P. (VA Boston Healthcare System) ; Dietl, A. (University Hospital Regensburg) ; Dimitriou, M. (Harokopio University of Athens) ; Dimitrov, L. (Medical Center Boulevard) ; Dorajoo, R. (Duke-NUS Medical School) ; Ekici, A.B. (Friedrich-Alexander-Universität Erlangen-Nürnberg) ; Engmann, J.E. (University College London) ; Fairhurst-Hunter, Z. (University of Oxford) ; Farmaki, A.E. (Harokopio University of Athens) ; Faul, J.D. (University of Michigan) ; Fernandez-Lopez, J.C. (National Institute of Genomic Medicine) ; Forer, L. (Medical University of Innsbruck) ; Francescatto, M. (University of Trieste) ; Freitag-Wolf, S. (Kiel University) ; Fuchsberger, C. (Affiliated Institute of the University of Lübeck) ; Galesloot, T.E. (Radboud University Medical Center) ; Gao, Y. (University of Mississippi) ; Gao, Z. (Helmholtz Zentrum München Research Center for Environmental Health) ; Geller, F. (Statens Serum Institut) ; Giannakopoulou, O. (Queen Mary University of London) ; Giulianini, F. (Brigham and Women's Hospital) ; Gjesing, A.P. (University of Copenhagen) ; Goel, A. (University of Oxford) ; Gordon, S.D. (QIMR Berghofer Medical Research Institute) ; Gorski, M. (University of Regensburg) ; Grove, J. (Aarhus University) ; Guo, X. (Harbor-UCLA Medical Center) ; Gustafsson, S. (Uppsala University) ; Haessler, J. (Fred Hutchinson Cancer Research Center) ; Hansen, T.F. (Copenhagen University Hospital) ; Havulinna, A.S. (Finnish Institute for Health and Welfare) ; Haworth, S.J. (University of Bristol) ; He, J. (Vanderbilt University Medical Center) ; Heard-Costa, N. (Framingham Heart Study) ; Hebbar, P. (Dasman Diabetes Institute) ; Hindy, G. (Lund University) ; Ho, Y.L.A. (Veterans Affairs Boston Healthcare System) ; Hofer, E. (Medical University of Graz) ; Holliday, E. (University of Newcastle) ; Horn, K. (University of Leipzig) ; Hornsby, W.E. (University of Michigan) ; Hottenga, J.J. (Vrije Universiteit Amsterdam) ; Huang, H. (Chan School of Public Health) ; Huang, J. (Peking University) ; Huerta-Chagoya, A. (Instituto Nacional de Ciencias Médicas y Nutrición) ; Huffman, J.E. (Veterans Affairs Boston Healthcare System) ; Hung, Y.J. (Tri-Service General Hospital Songshan Branch) ; Huo, S. (Chinese Academy of Sciences) ; Hwang, M.Y. (National Institute of Health) ; Iha, H. (Otsuka Pharmaceutical Co.) ; Ikeda, D.D. (Otsuka Pharmaceutical Co.) ; Isono, M. (National Center for Global Health and Medicine) ; Jackson, A.U. (University of Michigan School of Public Health) ; Jäger, S. (German Center for Diabetes Research (DZD)) ; Jansen, I.E. (Vrije Universiteit Medical Center) ; Johansson, I. (Umeå University) ; Jonas, J.B. (Capital Medical University) ; Jonsson, A. (University of Copenhagen) ; Jørgensen, T. (University of Copenhagen) ; Kalafati, I.P. (Harokopio University of Athens) ; Kanai, M. (Osaka University Graduate School of Medicine) ; Kanoni, S. (Queen Mary University of London) ; Kårhus, L.L. (Copenhagen University Hospital) ; Kasturiratne, A. (University of Kelaniya) ; Katsuya, T. (Osaka University Graduate School of Medicine) ; Kawaguchi, T. (Kyoto University Graduate School of Medicine) ; Kember, R.L. (University of Pennsylvania) ; Kentistou, K.A. (University of Edinburgh) ; Kim, H.N. (Sungkyunkwan University) ; Kim, Y.J. (National Institute of Health) ; Kleber, M.E. (SYNLAB MVZ Humangenetik Mannheim) ; Knol, M.J. (University Medical Center Rotterdam) ; Kurbasic, A. (Lund University) ; Lauzon, M. (Harbor-UCLA Medical Center) ; Le, P. (University of Toronto at Mississauga) ; Lea, R. (Queensland University of Technology) ; Lee, J.Y. (Soonchunhyang Mirai Medical Center) ; Leonard, H.L. (Data Tecnica International) ; Li, S.A. (Leidos Biomedical Research) ; Li, X. (St Cloud State University) ; Liang, J. (Case Western Reserve University) ; Lin, H. (University of Massachusetts Chan Medical School) ; Lin, S.Y. (Taichung Veterans General Hospital) ; Liu, J. (Genome Institute of Singapore) ; Liu, X. (Statens Serum Institut) ; Lo, K.S. (Montreal Heart Institute) ; Long, J. (Vanderbilt University Medical Center) ; Lores-Motta, L. (Radboud University Nijmegen Medical Center) ; Luan, J. (University of Cambridge School of Clinical Medicine) ; Lyssenko, V. (Lund University Diabetes Centre) ; Lyytikäinen, L.P. (Tampere University Hospital) ; Mahajan, A. (RIKEN Center for Integrative Medical Sciences) ; Mamakou, V. (National and Kapodistrian University of Athens) ; Mangino, M. (Guy's and St Thomas' Foundation Trust) ; Manichaikul, A. (University of Virginia School of Medicine) ; Marten, J. (University of Edinburgh) ; Mattheisen, M. (University Hospital) ; Mavarani, L. (University Hospital Essen) ; McDaid, A.F. (Swiss Institute of Bioinformatics) ; Meidtner, K. (German Center for Diabetes Research) ; Melendez, T.L. (University of Michigan) ; Mercader, J.M. (Massachusetts General Hospital) ; Milaneschi, Y. (Amsterdam UMC and Vrije Universiteit) ; Miller, J.E. (University of Pennsylvania) ; Millwood, I.Y. (University of Oxford) ; Mishra, P.P. (Tampere University) ; Mitchell, R.E. (University of Bristol) ; Møllehave, L.T. (Copenhagen University Hospital) ; Morgan, A. (Burlo Garofolo) ; Mucha, S. (University of Lübeck) ; Munz, M. (University of Lübeck) ; Nakatochi, M. (Nagoya University Graduate School of Medicine) ; Nelson, C.P. (Glenfield Hospital) ; Nethander, M. (University of Gothenburg) ; Nho, C.W. (Gangneung Institute of Natural Products) ; Nielsen, A.A. (Lillebaelt Hospital) ; Nolte, I.M. (University Medical Center Groningen) ; Nongmaithem, S.S. (Wellcome Sanger Institute) ; Noordam, R. (Leiden University Medical Center) ; Ntalla, I. (Queen Mary University of London) ; Nutile, T. (Institute of Genetics and Biophysics A. Buzzati-Traverso) ; Pandit, A. (University of Michigan School of Public Health) ; Christofidou, P. (King's College London) ; Pärna, K. (University Medical Center Groningen) ; Pauper, M. (Radboud University Nijmegen Medical Center) ; Petersen, E.R.B. (Hospital of Southern Jutland) ; Petersen, L.V. (University of Aarhus) ; Pitkänen, N. (University of Turku) ; Polašek, O. (Algebra University College) ; Poveda, A. (Lund University) ; Preuss, M.H. (Icahn School of Medicine at Mount Sinai) ; Pyarajan, S. (VA Boston Healthcare System) ; Raffield, L.M. (University of North Carolina at Chapel Hill) ; Rakugi, H. (Osaka University Graduate School of Medicine) ; Ramirez, J. (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Rasheed, A. (Center for Non-Communicable Diseases) ; Raven, D. (University of Groningen) ; Rayner, N.W. (University of Oxford. Churchill Hospital) ; Riveros, C. (The University of Newcastle) ; Rohde, R. (University of North Carolina at Chapel Hill) ; Ruggiero, D. (IRCCS Neuromed) ; Ruotsalainen, S.E. (University of Helsinki) ; Ryan, K.A. (University of Maryland School of Medicine) ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; Saxena, R. (Massachusetts General Hospital) ; Scholz, M. (University of Leipzig) ; Sendamarai, A. (VA Boston Healthcare System) ; Shen, B. (National Institutes of Health) ; Shi, J. (23andMe) ; Shin, J.H. (Hallym University) ; Sidore, C. (Consiglio Nazionale delle Ricerche (CNR)) ; Sitlani, C.M. (University of Washington) ; Slieker, R.C. (Amsterdam Cardiovascular Sciences) ; Smit, R.A.J. (Leiden University Medical Center) ; Smith, A.V. (Icelandic Heart Association) ; Smith, J.A. (University of Michigan) ; Smyth, L.J. (Queen's University of Belfast) ; Southam, L. (Wellcome Trust Sanger Institute (Regne Unit)) ; Steinthorsdottir, V. (deCODE Genetics/Amgen) ; Sun, L. (University of Chinese Academy of Sciences) ; Takeuchi, F. (National Center for Global Health and Medicine) ; Tallapragada, D.S.P. (University of Bergen) ; Taylor, K.D. (Harbor-UCLA Medical Center) ; Tayo, B.O. (Loyola University Chicago) ; Tcheandjieu, C. (Stanford University School of Medicine) ; Terzikhan, N. (University Medical Center Rotterdam) ; Tesolin, P. (University of Trieste) ; Teumer, A. (DZHK (German Centre for Cardiovascular Research)) ; Theusch, E. (University of California) ; Thompson, D.J. (University of Cambridge) ; Thorleifsson, G. (deCODE Genetics/Amgen) ; Timmers, P.R.H.J. (Western General Hospital) ; Trompet, S. (Leiden University Medical Center) ; Turman, C. (Chan School of Public Health) ; Vaccargiu, S. (Consiglio Nazionale delle Ricerche) ; van der Laan, S.W. (Utrecht University) ; van der Most, P.J. (University Medical Center Groningen) ; van Klinken, J.B. (University of Amsterdam) ; van Setten, J. (Utrecht University) ; Verma, S.S. (University of Pennsylvania) ; Verweij, N. (University Medical Center Groningen) ; Veturi, Y. (University of Pennsylvania) ; Wang, C.A. (The University of Newcastle) ; Wang, C. (Huazhong University of Science and Technology) ; Wang, L. (Washington University School of Medicine) ; Wang, Z. (Icahn School of Medicine at Mount Sinai) ; Warren, H.R. (Queen Mary University of London) ; Bin Wei, W. (Capital Medical University) ; Wickremasinghe, A.R. (University of Kelaniya) ; Wielscher, M. (Medical University of Vienna) ; Wiggins, K.L. (University of Washington) ; Winsvold, B.S. (Oslo University Hospital) ; Wong, A. (University College London) ; Wu, Y. (The University of Queensland) ; Wuttke, M. (University of Freiburg) ; Xia, R. (University of Texas Health Science Center at Houston) ; Xie, T. (University Medical Center Groningen) ; Yamamoto, K. (Kurume University School of Medicine) ; Yang, J. (Westlake Laboratory of Life Sciences and Biomedicine) ; Yao, J. (Harbor-UCLA Medical Center) ; Young, H. (University of Minnesota) ; Yousri, N.A. (Alexandria University) ; Yu, L. (Rush University Medical Center) ; Zeng, L. (Technical University Munich) ; Zhang, W. (Imperial College London) ; Zhang, X. (University of Pennsylvania) ; Zhao, J.H. (University of Cambridge) ; Zhao, W. (University of Michigan School of Public Health) ; Zhou, W. (Broad Institute of MIT and Harvard) ; Zimmermann, M.E. (University of Regensburg) ; Zoledziewska, M. (Consiglio Nazionale delle Ricerche) ; Adair, L.S. (University of North Carolina at Chapel Hill) ; Adams, H.H.H. (Universidad Adolfo Ibáñez) ; Aguilar-Salinas, C.A. (Escuela de Medicina y Ciencias de la Salud) ; Al-Mulla, F. (Dasman Diabetes Institute) ; Arnett, D.K. (University of Kentucky) ; Asselbergs, F.W. (University College London) ; Åsvold, B.O. (Trondheim University Hospital) ; Attia, J. (University of Newcastle) ; Banas, B. (University Hospital Regensburg) ; Bandinelli, S. (Azienda Toscana Centro) ; Bennett, D.A. (Rush University Medical Center) ; Bergler, T. (University Hospital Regensburg) ; Bharadwaj, D. (Jawaharlal Nehru University) ; Biino, G. (National Research Council of Italy) ; Bisgaard, H. (University of Copenhagen) ; Boerwinkle, E. (University of Texas Health Science Center at Houston) ; Böger, C.A. (KfH Kidney Center Traunstein) ; Bønnelykke, K. (University of Copenhagen) ; Boomsma, D.I. (Vrije Universiteit Amsterdam) ; Børglum, A.D. (Aarhus University) ; Borja, J.B. (University of San Carlos) ; Bouchard, C. (Pennington Biomedical Research Center) ; Bowden, D.W. (Medical Center Boulevard) ; Brandslund, I. (University of Southern Denmark) ; Brumpton, B. (Trondheim University Hospital) ; Buring, J.E. (Brigham and Women's Hospital) ; Caulfield, M.J. (Queen Mary University of London) ; Chambers, J.C. (Imperial College London) ; Chandak, G.R. (JSS (Deemed to be) University) ; Chanock, Stephen J. (National Cancer Institute) ; Chaturvedi, N. (University College London) ; Chen, Y.D.I. (Harbor-UCLA Medical Center) ; Chen, Z. (University of Oxford) ; Cheng, C.Y. (Duke-NUS Medical School) ; Christophersen, I.E. (Vestre Viken Hospital Trust) ; Ciullo, M. (IRCCS Neuromed) ; Cole, J.W. (Baltimore Veterans Affairs Medical Center) ; Collins, F.S. (National Institutes of Health) ; Cooper, R.S. (Loyola University Chicago) ; Cruz, M. (Instituto Mexicano del Seguro Social) ; Cucca, F. (Università degli Studi di Sassari) ; Cupples, L.A. (Framingham Heart Study) ; Cutler, M.J. (Intermountain Medical Center) ; Damrauer, S.M. (Crescenz VA Medical Center) ; Dantoft, T.M. (Copenhagen University Hospital - Bispebjerg and Frederiksberg) ; de Borst, G.J. (University of Utrecht) ; de Groot, L.C.P.G.M. (Department of Human Nutrition. Wageningen University) ; De Jager, P.L. (Columbia University Medical Center) ; de Kleijn, D.P.V. (University of Utrecht) ; Janaka de Silva, H. (University of Kelaniya) ; Dedoussis, G.V. (Harokopio University of Athens) ; den Hollander, A.I. (Radboud University Nijmegen Medical Center) ; Du, S. (University of North Carolina at Chapel Hill) ; Easton, D.F. (Department of Oncology. University of Cambridge) ; Elders, P.J.M. (Amsterdam UMC) ; Eliassen, A.H. (Chan School of Public Health) ; Ellinor, P.T. (Massachusetts General Hospital) ; Elmståhl, S. (Lund University) ; Erdmann, J. (University Heart Center Lübeck) ; Evans, M.K. (National Institutes of Health) ; Fatkin, D. (UNSW Sydney) ; Feenstra, B. (Statens Serum Institut) ; Feitosa, M.F. (Washington University School of Medicine) ; Ferrucci, L. (National Institutes of Health) ; Ford, I. (University of Glasgow) ; Fornage, M. (University of Texas Health Science Center at Houston) ; Franke, A. (Christian-Albrechts University of Kiel) ; Franks, P.W. (Umeå University) ; Freedman, B.I. (Medical Center Boulevard) ; Gasparini, P. (University of Trieste) ; Gieger, C. (German Center for Diabetes Research) ; Girotto, G. (University of Trieste) ; Goddard, M.E. (Precincts and Regions) ; Golightly, Y.M. (University of North Carolina at Chapel Hill) ; Gonzalez-Villalpando, C. (Centro de Estudios en Diabetes) ; Gordon-Larsen, P. (University of North Carolina at Chapel Hill) ; Grallert, H. (German Center for Diabetes Research) ; Grant, S.F.A. (Children's Hospital of Philadelphia) ; Grarup, N. (University of Copenhagen) ; Griffiths, L. (Queensland University of Technology) ; Gudnason, V. (University of Iceland) ; Haiman, C. (Keck School of Medicine of USC) ; Hakonarson, H. (Children's Hospital of Philadelphia) ; Hansen, T. (University of Copenhagen) ; Hartman, C.A. (University Medical Center Groningen) ; Hattersley, A.T. (University of Exeter Medical School) ; Hayward, C. (University of Edinburgh) ; Heckbert, S.R. (University of Washington) ; Heng, C.K. (National University Health System) ; Hengstenberg, C. (Medical University of Vienna) ; Hewitt, A.W. (University of Western Australia) ; Hishigaki, H. (Otsuka Pharmaceutical Co.) ; Hoyng, C.B. (Radboud University Nijmegen Medical Center) ; Huang, P.L. (Massachusetts General Hospital) ; Huang, W. (Shanghai Industrial Technology Institute) ; Hunt, S.C. (University of Utah) ; Hveem, K. (Norwegian University of Science and Technology) ; Hyppönen, E. (South Australian Health and Medical Research Institute) ; Iacono, W.G. (University of Minnesota) ; Ichihara, S. (Jichi Medical University School of Medicine) ; Ikram, M.A. (University Medical Center Rotterdam) ; Isasi, C.R. (Albert Einstein College of Medicine) ; Jackson, R.D. (Ohio State University) ; Jarvelin, M.R. (Brunel University London) ; Jin, Z.B. (Wenzhou Medical University) ; Jöckel, K.H. (University Hospital Essen) ; Joshi, P.K. (University of Edinburgh) ; Jousilahti, P. (Finnish Institute for Health and Welfare) ; Jukema, J.W. (Netherlands Heart Institute) ; Kähönen, M. (Tampere University) ; Kamatani, Y. (The University of Tokyo) ; Kang, K.D. (The Catholic University of Korea Incheon St. Mary's Hospital) ; Kaprio, J. (University of Helsinki) ; Kardia, S.L.R. (University of Michigan School of Public Health) ; Karpe, F. (Churchill Hospital) ; Kato, N. (National Center for Global Health and Medicine) ; Kee, F. (Queen's University of Belfast) ; Kessler, T. (German Centre for Cardiovascular Research) ; Khera, A.V. (Massachusetts General Hospital) ; Khor, C.C. (Genome Institute of Singapore) ; Kiemeney, L.A.L.M. (Radboud University Medical Center) ; Kim, B.J. (National Institute of Health) ; Kim, E.K. (Saevit Eye Hospital) ; Kim, H.L. (Ewha Womans University) ; Kirchhof, P. (Atrial Fibrillation NETwork) ; Kivimaki, M. (University College London) ; Koh, W.P. (National University of Singapore) ; Koistinen, H.A. (Minerva Foundation Institute for Medical Research) ; Kolovou, G.D. (Metropolitan Hospital) ; Kooner, J.S. (Imperial College London) ; Kooperberg, C. (Fred Hutchinson Cancer Research Center) ; Köttgen, A. (University of Freiburg) ; Kovacs, P. (University of Leipzig Medical Center) ; Kraaijeveld, A. (Utrecht University) ; Kraft, P. (Chan School of Public Health) ; Krauss, R.M. (University of California) ; Kumari, M. (University of Essex) ; Kutalik, Z. (Swiss Institute of Bioinformatics) ; Laakso, M. (Kuopio University Hospital) ; Lange, L.A. (University of Colorado at Denver) ; Langenberg, C. (Charité - Universitätsmedizin Berlin) ; Launer, L.J. (National Institutes of Health) ; Le Marchand, L. (University of Hawaii Cancer Center) ; Lee, H. (Ewha Womans University School of Medicine) ; Lee, N.R. (University of San Carlos) ; Lehtimäki, T. (Tampere University) ; Li, H. (University of Chinese Academy of Sciences) ; Li, L. (Peking University Center for Public Health) ; Lieb, W. (Kiel University) ; Lin, X. (University of Chinese Academy of Sciences) ; Lind, L. (Uppsala University) ; Linneberg, A. (University of Copenhagen) ; Liu, C.T. (Boston University School of Public Health) ; Liu, J. (Genome Institute of Singapore) ; Loeffler, M. (University of Leipzig) ; London, B. (University of Iowa Hospitals and Clinics) ; Lubitz, S.A. (Massachusetts General Hospital) ; Lye, S.J. (Sinai Health System) ; Mackey, D.A. (University of Western Australia) ; Mägi, R. (University of Tartu) ; Magnusson, P.K.E. (Karolinska Institutet) ; Marcus, G.M. (University of California) ; Vidal, P.M. (University of Lausanne) ; Martin, N.G. (QIMR Berghofer Medical Research Institute) ; März, W. (Medical University of Graz) ; Matsuda, F. (Kyoto University Graduate School of Medicine) ; McGarrah, R.W. (Duke University School of Medicine) ; McGue, M. (University of Minnesota) ; McKnight, A.J. (Queen's University of Belfast) ; Medland, S.E. (QIMR Berghofer Medical Research Institute) ; Mellström, D. (University of Gothenburg) ; Metspalu, A. (University of Tartu) ; Mitchell, B.D. (Baltimore Veterans Administration Medical Center) ; Mitchell, P. (University of Sydney) ; Mook-Kanamori, D.O. (Leiden University Medical Center) ; Morris, A.D. (University of Edinburgh) ; Mucci, L.A. (Chan School of Public Health) ; Munroe, P.B. (Queen Mary University of London) ; Nalls, M.A. (Data Tecnica International) ; Nazarian, S. (University of Pennsylvania) ; Nelson, A.E. (University of North Carolina at Chapel Hill) ; Neville, M.J. (Churchill Hospital) ; Newton-Cheh, C. (Massachusetts General Hospital) ; Nielsen, C.S. (Oslo University Hospital) ; Nöthen, M.M. (University Hospital Bonn) ; Ohlsson, C. (Sahlgrenska University Hospital) ; Oldehinkel, A.J. (University of Groningen) ; Orozco, L. (Instituto Nacional de Medicina Genómica) ; Pahkala, K. (University of Turku) ; Pajukanta, P. (David Geffen School of Medicine at UCLA) ; Palmer, C.N.A. (University of Dundee) ; Parra, E.J. (University of Toronto at Mississauga) ; Pattaro, C. (University of Lübeck) ; Pedersen, O. (University of Copenhagen) ; Pennell, C.E. (University of Newcastle) ; Penninx, B.W.J.H. (Amsterdam UMC and Vrije Universiteit) ; Perusse, L. (Université Laval) ; Peters, A. (IBE. LMU Munich) ; Peyser, P.A. (University of Michigan School of Public Health) ; Porteous, D.J. (University of Edinburgh) ; Posthuma, D. (Vrije Universiteit Amsterdam) ; Power, C. (UCL Great Ormond Street Hospital Institute of Child Health) ; Pramstaller, P.P. (University of Lübeck) ; Province, M.A. (Washington University School of Medicine) ; Qi, Q. (Albert Einstein College of Medicine) ; Qu, J. (Wenzhou Medical University) ; Rader, D.J. (University of Pennsylvania) ; Raitakari, O.T. (Turku University Hospital) ; Ralhan, S. (Dyanand Medical College) ; Rallidis, L.S. (University General Hospital Attikon) ; Rao, D.C. (Washington University School of Medicine) ; Redline, S. (Brigham and Women's Hospital) ; Reilly, D.F. (Genetics. Merck Sharp & Dohme) ; Reiner, A.P. (University of Washington) ; Rhee, S.Y. (Kyung Hee University School of Medicine) ; Ridker, P.M. (Brigham and Women's Hospital) ; Rienstra, M. (University Medical Center Groningen) ; Ripatti, S. (University of Helsinki) ; Ritchie, M.D. (University of Pennsylvania) ; Roden, D.M. (Vanderbilt University Medical Center) ; Rosendaal, F.R. (Leiden University Medical Center) ; Rotter, J.I. (Harbor-UCLA Medical Center) ; Rudan, I. (University of Edinburgh) ; Rutters, F. (Amsterdam Public Health Institute) ; Sabanayagam, C. (Duke-NUS Medical School) ; Saleheen, D. (Columbia University) ; Salomaa, V. (Finnish Institute for Health and Welfare) ; Samani, N.J. (Glenfield Hospital) ; Sanghera, D.K. (University of Oklahoma Health Sciences Center) ; Sattar, N. (University of Glasgow) ; Schmidt, B. (University Hospital Essen) ; Schmidt, H. (Medical University of Graz) ; Schmidt, R. (Medical University of Graz) ; Schulze, M.B. (University of Potsdam) ; Schunkert, H. (Technische Universität München) ; Scott, L.J. (University of Michigan School of Public Health) ; Scott, R.J. (University of Newcastle) ; Sever, P. (Imperial College London) ; Shiroma, E.J. (National Institutes of Health) ; Shoemaker, M.B. (Vanderbilt University Medical Center) ; Shu, X.O. (Vanderbilt University Medical Center) ; Simonsick, E.M. (National Institutes of Health) ; Sims, M. (University of Mississippi) ; Singh, J.R. (Central University of Punjab) ; Singleton, A. B. (National Institute on Aging) ; Sinner, M.F. (LMU Munich) ; Smith, J.G. (Lund University) ; Snieder, H. (University Medical Center Groningen) ; Spector, T.D. (King's College London) ; Stampfer, M.J. (Chan School of Public Health) ; Stark, K.J. (University of Regensburg) ; Strachan, D.P. (University of London) ; 't Hart, L.M. (Leiden University Medical Center) ; Tabara, Y. (Kyoto University Graduate School of Medicine) ; Tang, H. (Stanford University School of Medicine) ; Tardif, J.C. (Université de Montréal) ; Thanaraj, T.A. (Department of Genetics and Bioinformatics) ; Timpson, N.J. (University of Bristol) ; Tönjes, A. (University of Leipzig Medical Center) ; Tremblay, A. (Université Laval) ; Tuomi, T. (Folkhälsan Research Center) ; Tuomilehto, J. (King Abdulaziz University) ; Tusié-Luna, M.T. (Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán) ; Uitterlinden, A.G. (University Medical Center Rotterdam) ; van Dam, R.M. (The George Washington University) ; van der Harst, P. (University of Groningen) ; Van der Velde, N. (Amsterdam Public Health) ; van Duijn, C.M. (University Medical Center Rotterdam) ; van Schoor, N.M. (Amsterdam UMC) ; Vitart, V. (University of Edinburgh) ; Völker, U. (University Medicine Greifswald) ; Vollenweider, P. (University of Lausanne) ; Völzke, H. (DZHK (German Centre for Cardiovascular Research)) ; Wacher-Rodarte, N.H. (Centro Médico Nacional Siglo XXI) ; Walker, M. (Newcastle University) ; Wang, Y.X. (Capital Medical University) ; Wareham, N.J. (University of Cambridge School of Clinical Medicine) ; Watanabe, R.M. (Keck School of Medicine of USC) ; Watkins, Hugh (University of Oxford) ; Weir, D.R. (University of Michigan) ; Werge, T.M. (University of Copenhagen) ; Widen, E. (University of Helsinki) ; Wilkens, Lynne R. (University of Hawaii Cancer Center) ; Willemsen, Gonneke (Vrije Universiteit Amsterdam) ; Willett, Walter C. (Chan School of Public Health) ; Wilson, James F. (Western General Hospital) ; Wong, Tien-Yin (Duke-NUS Medical School) ; Woo, Jeong-Taek (Kyung Hee University School of Medicine) ; Wright, Alan F. (University of Edinburgh) ; Wu, Jer-Yuarn (China Medical University) ; Xu, Huichun (University of Maryland School of Medicine) ; Yajnik, Chittaranjan S. (King Edward Memorial Hospital and Research Centre) ; Yokota, Mitsuhiro (Kurume University School of Medicine (Kurume, Japó)) ; Yuan, Jian-Min (University of Pittsburgh) ; Zeggini, Eleftheria (Technical University of Munich) ; Zemel, Babette S. (University of Pennsylvania) ; Zheng, Wei (Vanderbilt University Medical Center) ; Zhu, Xiaofeng (Case Western Reserve University) ; Zmuda, Joseph M. (University of Pittsburgh) ; Zonderman, Alan B. (National Institutes of Health) ; Zwart, John-Anker (University of Oslo) ; Croteau-Chonka, Damien (Brigham and Women's Hospital) ; Vonk, Judith M. (University Medical Center Groningen) ; Le Marchand, Loic (University of Hawaii Cancer Center) ; Chasman, Daniel I. (Brigham and Women's Hospital) ; Cho, Yoon Shin (Hallym University (Chuncheon, Corea del Sud)) ; Heid, Iris M. (University of Regensburg) ; McCarthy, Mark I. (Genentech (South San Francisco, Estats Units)) ; Ng, Maggie C. Y. (Vanderbilt University Medical Center) ; O'Donnell, Christopher J. (Veterans Affairs Boston Healthcare System) ; Rivadeneira, Fernando (Erasmus Medical Center Rotterdam) ; Thorsteinsdottir, Unnur (University of Iceland) ; Sun, Yan V. (Atlanta VA Health Care System) ; Tai, E. Shyong (National University Health System (Singapur)) ; Boehnke, Michael (University of Michigan School of Public Health) ; Deloukas, Panos (King Abdulaziz University (Jeddah, Aràbia Saudita)) ; Justice, Anne E. (Department of Population Health Sciences Geisinger (Danville, Estats Units)) ; Lindgren, Cecilia M. (University of Oxford) ; Loos, Ruth J. F. (Icahn School of Medicine at Mount Sinai (New York, Estats Units)) ; Mohlke, Karen L. (University of North Carolina at Chapel Hill) ; North, Kari E. (University of North Carolina at Chapel Hill) ; Stefansson, Kari (University of Iceland) ; Walters, Robin G. (University of Oxford (Oxford, Regne Unit))) ; Winkler, Thomas W. (University of Regensburg (Regensburg, Alemanya)) ; Young, Kristin L. (University of North Carolina at Chapel Hill) ; Loh, Po-Ru (Harvard Medical School (Boston, Estats Units)) ; Yang, Jian (Westlake Laboratory of Life Sciences and Biomedicine (Hangzhou, Xina)) ; Esko, Tõnu (University of Tartu) ; Assimes, Themistocles (Stanford University School of Medicine) ; Auton, Adam (23andMe (Sunnyvale, Estats Units)) ; Abecasis, Goncalo R. (University of Michigan School of Public Health) ; Willer, Cristen J. (University of Michigan) ; Locke, Adam E. (Washington University School of Medicine) ; Berndt, Sonja I. (National Cancer Institute (Rocville, Estats Units)) ; Lettre, Guillaume (Université de Montréal) ; Frayling, Timothy M. (University of Exeter (Devon, Anglaterra)) ; Okada, Yukinori (The University of Tokyo) ; Wood, Andrew R. (University of Exeter) ; Visscher, PM. (University of Queensland) ; Hirschhorn, Joel N. (Harvard Medical School (Boston, Estats Units)) ; Universitat Autònoma de Barcelona
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. [...]
2022 - 10.1038/s41586-022-05275-y
Nature, Vol. 610 Núm. 7933 (27 2022) , p. 704-712  
2.
12 p, 3.3 MB Spanish cohort of VEXAS syndrome : clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism / Mascaro, Jose Manuel (Hospital Clínic i Provincial de Barcelona) ; Rodriguez-Pinto, Ignasi (Hospital Universitari MútuaTerrassa) ; Poza, Gabriela (Hospital Universitario Virgen de la Arrixaca) ; Mensa-Vilaro, Anna (Hospital Clínic i Provincial de Barcelona) ; Fernández-Martín, Julián (Hospital Álvaro Cunqueiro) ; Caminal-Montero, Luis (Instituto de Investigación Sanitaria del Principado de Asturias) ; Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona) ; Hernández Rodríguez, José (Hospital Clínic i Provincial de Barcelona) ; Diaz, Marina (Hospital Clínic i Provincial de Barcelona) ; Rita-Marques, Joana (Hospital Universitari Vall d'Hebron) ; Sanmartí, Raimon (Hospital Clínic i Provincial de Barcelona) ; Castañeda, Santos (Universidad Autónoma de Madrid) ; Colunga, Dolores (Hospital Universitario Central de Asturias) ; Coto-Hernández, Rubén (Instituto de Investigación Sanitaria del Principado de Asturias) ; Fanlo, Patricia (Hospital Universitario de Navarra) ; Elejalde, Jose Ignacio (Hospital Universitario de Navarra) ; Segundo, Bujan (Hospital Universitari Vall d'Hebron) ; Figueras, Ignasi (Hospital Universitari de Bellvitge) ; Marco, Francisco Manuel (Hospital General Universitario de Alicante Dr Balmis) ; Andrés, Mariano (Universidad Miguel Hernandez de Elche) ; Suárez, Silvia (Hospital Valle del Nalón) ; Gonzalez-Garcia, Andres (Hospital Universitario Ramón y Cajal) ; Fustà-Novell, Xavier (Fundació Althaia de Manresa) ; Garcia-Belando, Clara (Hospital Universitario Virgen de la Arrixaca) ; Granados-Maturano, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Fernandez Figueras, Maria Teresa (Hospital Universitari General de Catalunya) ; Quilis, Neus (Hospital Universitari de Vinalopo) ; Orriols-Caba, Maria (Hospital comarcal Alt Penedès) ; Gómez de la Torre, Ricardo (Hospital Universitario Central de Asturias) ; Cid, María Cinta (Hospital Clínic i Provincial de Barcelona) ; Espígol-Frigolé, Georgina (Hospital Clínic i Provincial de Barcelona) ; Alvarez-Abella, Alba (Hospital Universitari MútuaTerrassa) ; Labrador, Eztizen (Hospital San Pedro) ; Rozman, Maria (Hospital Clínic i Provincial de Barcelona) ; Lopez-Guerra, Monica (Hospital Clínic i Provincial de Barcelona) ; Castillo, Paola (Hospital Clínic i Provincial de Barcelona) ; Alamo-Moreno, Jose R (Hospital Clínic i Provincial de Barcelona) ; Gonzalez-Roca, Eva (Hospital Clínic i Provincial de Barcelona) ; Plaza, Susana (Hospital Clínic i Provincial de Barcelona) ; Fabregat, Virginia (Hospital Clínic i Provincial de Barcelona) ; Lara, Rocio (Hospital Clínic i Provincial de Barcelona) ; Vicente-Rabaneda, Esther F (Universidad Autónoma de Madrid) ; Tejedor Vaquero, Sonia (Institut Hospital del Mar d'Investigacions Mèdiques) ; Magri, Giuliana (Institut Hospital del Mar d'Investigacions Mèdiques) ; Bonet, Nuria (Universitat Pompeu Fabra) ; Solis-Moruno, Manuel (Universitat Pompeu Fabra) ; Cerutti, Andrea (Institut Hospital del Mar d'Investigacions Mèdiques) ; Fornas, Òscar (Universitat Pompeu Fabra) ; Casals, Ferran (Universitat de Barcelona) ; Yagüe, Jordi (Hospital Clínic i Provincial de Barcelona) ; Aróstegui, Juan Ignacio (Hospital Clínic i Provincial de Barcelonaa) ; Universitat Autònoma de Barcelona
The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants. To investigate the presence of VEXAS syndrome among patients with adult-onset undiagnosed AID. [...]
2023 - 10.1136/ard-2023-224460
Annals of the rheumatic diseases, Vol. 82 (september 2023) , p. 1594-1605  
3.
12 p, 1.3 MB Gene-level association analysis of systemic sclerosis : A comparison of African-Americans and White populations / Gorlova, Olga Y. (Dartmouth College) ; Li, Yafang (Dartmouth College) ; Gorlov, Ivan (Dartmouth College) ; Ying, Jun (University of Texas McGovern Medical School) ; Chen, Wei V. (UT MD Anderson Cancer Center) ; Assassi, Shervin (University of Texas McGovern Medical School) ; Reveille, John D. (University of Texas McGovern Medical School) ; Arnett, Frank C. (University of Texas McGovern Medical School) ; Zhou, Xiaodong (University of Texas McGovern Medical School) ; Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ; Lopez-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ; Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ; Gregersen, Peter K. (Feinstein Institute for Medical Research) ; Lee, Annette T. (Robert S. Feinstein Institute for Medical Research) ; Steen, Virginia D. (Georgetown University Medical Center) ; Fessler, Barri J. (University of Alabama-Birmingham) ; Khanna, Dinesh (University of Michigan) ; Schiopu, Elena (University of Michigan) ; Silver, Richard M. (Medical University of South Carolina) ; Molitor, Jerry A. (University of Minnesota) ; Furst, Daniel E. (University of Florence) ; Kafaja, Suzanne (University of California-Los Angeles) ; Simms, Robert W. (Boston University) ; Lafyatis, Robert A. (University of Pittsburgh) ; Carreira, Patricia E (Hospital Universitario de Madrid) ; Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ; Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ; Beltran, Emma (Hospital Universitari i Politècnic La Fe (València)) ; Ortego, Norberto (University Hospital San Cecilio) ; Amos, Christopher I. (Dartmouth College) ; Martin, Javier (Institute of Parasitology and Biomedicine López-Neyra. IPBLN-CSIC) ; Mayes, Maureen D. (University of Texas McGovern Medical School) ; Universitat Autònoma de Barcelona
Gene-level analysis of ImmunoChip or genome-wide association studies (GWAS) data has not been previously reported for systemic sclerosis (SSc, scleroderma). The objective of this study was to analyze genetic susceptibility loci in SSc at the gene level and to determine if the detected associations were shared in African-American and White populations, using data from ImmunoChip and GWAS genotyping studies. [...]
2018 - 10.1371/journal.pone.0189498
PloS one, Vol. 13 Núm. 1 (january 2018) , p. e0189498  
4.
10 p, 1.2 MB Association of candidate gene polymorphisms with chronic kidney disease : Results of a case-control analysis in the NEFRONA cohort / Valls, Joan (Instituto de Salud Carlos III) ; Cambray, Serafí (Instituto de Salud Carlos III) ; Pérez-Guallar, Carles (Instituto de Salud Carlos III) ; Bozic, Milica (Instituto de Salud Carlos III) ; Bermúdez-López, Marcelino (Instituto de Salud Carlos III) ; Fernández, Elvira (Instituto de Salud Carlos III) ; Betriu, Àngels (Instituto de Salud Carlos III) ; Rodríguez, Isabel (Instituto de Salud Carlos III) ; Valdivielso, José M. (Instituto de Salud Carlos III) ; Aladrén Regidor, Mª José (Hospital Comarcal Ernest Lluch) ; Almirall Daly, Jaume (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ponz, Esther (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Arteaga Coloma, Jesús (Complejo Hospitalario de Navarra) ; Bajo Rubio, Mª Auxiliadora (Raquel Hospital la Paz) ; Díaz, Raquel (Raquel Hospital la Paz) ; Belart Rodríguez, Montserrat (Sistemes Renals) ; Gascón, Antonio (Hospital Obispo Polanco) ; Bover, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Bronsoms Artero, Josep (Clínica Girona) ; Cabezuelo Romero, Juan B. (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Muray Cases, Salomé (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Calviño Varela, Jesús (Hospital Universitario Lucus Augusti (Lugo)) ; Caro Acevedo, Pilar (Clínica Ruber) ; Carreras Bassa, Jordi (Diaverum Baix Llobregat) ; Cases Amenós, Aleix (Hospital Clínic i Provincial de Barcelona) ; Massó Jiménez, Elisabet (Hospital Clínic i Provincial de Barcelona) ; Moreno López, Rosario (Hospital de la Defensa) ; Cigarrán Guldris, Secundino (Hospital da Costa) ; López Prieto, Saray (Hospital da Costa) ; Comas Mongay, Lourdes (Hospital General de Vic) ; Comerma, Isabel (Hospital General de Manresa) ; Compte Jové, MªTeresa (Hospital de la Santa Creu de Jesús) ; Cuberes Izquierdo, Marta (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; De Álvaro, Fernando (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; Hevia Ojanguren, Covadonga (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ; De Arriba De La Fuente, Gabriel (Hospital Universitario de Guadalajara) ; Del Pino Y Pino, Mª Dolores (Complejo Hospitalario Torrecardenas de Almeria) ; Diaz-Tejeiro Izquierdo, Rafael (Francisco Hospital Virgen de la Salud) ; Hormigos, Ahijado (Francisco Hospital Virgen de la Salud) ; Dotori, Marta (USP Marbella) ; Duarte, Verónica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Estupiñan Torres, Sara (Hospital Universitario de Canarias (La Laguna)) ; Fernández Reyes, MªJosé (Hospital de Segovia) ; Fernández Rodríguez, Mª Loreto (Hospital Príncipe de Asturias) ; Fernández, Guilermina (Clínica Santa Isabel) ; Galán Serrano, Antonio (Hospital General Universitari de València) ; García Cantón, Cesar (Hospital Universitario Insular de Gran Canaria) ; García Herrera, Antonio L. (Hospital Universitario Puerto Real (Cadis)) ; García Mena, Mercedes (Hospital San Juan de Dios) ; Gil Sacaluga, Luis (Hospital Virgen Del Rocío) ; Aguilar, Maria (Hospital Virgen Del Rocío) ; Górriz, José Luis (Hospital Universitari Doctor Peset (València)) ; Huarte Loza, Emma (Hospital San Pedro de Alcántara) ; Lerma, José Luis (Hospital Universitario de Salamanca) ; Liebana Cañada, Antonio (Hospital de Jaén) ; Marín Álvarez, Jesús Pedro. (Hospital San Pedro de Alcántara) ; Martín Alemany, Nadia (Hospital Universitari de Girona Doctor Josep Trueta) ; Martín García, Jesús (Hospital Nuestra Señora de Sonsoles (Àvila)) ; Martínez Castelao, Alberto (Hospital Universitari de Bellvitge) ; Martínez Villaescusa, María (Complejo Hospitalario Universitario de Albacete) ; Martínez, Isabel (Hospital Galdakao) ; Moina Eguren, Iñigo (Hospital Basurto) ; Moreno Los Huertos, Silvia (Hospital Santa Bárbara) ; Mouzo Mirco, Ricardo (Hospital El Bierzo Ponferrada) ; Munar Vila, Antonia (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Muñoz Díaz, Ana Beatriz (Hospital Vithas Nisa Virgen Del Consuelo) ; Navarro González, Juan F. (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Nieto, Javier (Hospital General Universitario de Ciudad Real) ; Carreño, Agustín (Hospital General Universitario de Ciudad Real) ; Novoa Fernández, Enrique (Complexo Hospitalario de Ourense) ; Ortiz, Alberto (Fundacion Jimenez Diaz) ; Fernandez, Beatriz (Fundacion Jimenez Diaz) ; Paraíso, Vicente (Hospital Universitario del Henares (Madrid)) ; Pérez Fontán, Miguel (Complejo Hospitalario Universitario de A Coruña) ; Peris Domingo, Ana (Hospital Francesc de Borja) ; Piñera Haces, Celestino (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Prados Garrido, Mª Dolores (Hospital Universitario San Cecilio (Granada)) ; Prieto Velasco, Mario (Hospital Universitario de León) ; Puig Marí, Carmina (Hospital D'Igualada) ; Rivera Gorrín, Maite (Hospital Universitario Ramón y Cajal (Madrid)) ; Rubio, Esther (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Ruiz, Pilar (Hospital de Sant Joan Despí Moisès Broggi) ; Salgueira Lazo, Mercedes (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Martínez Puerto, Ana Isabel (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Sánchez Tomero, José Antonio (Hospital Universitario de la Princesa (Madrid)) ; Sánchez, José Emilio (Hospital Universitario Central de Asturias) ; Sans Lorman, Ramon (Hospital de Figueres) ; Saracho, Ramon (Hospital de Santiago) ; Sarrias, Maria (Hospital Universitari Vall d'Hebron) ; Seron, Daniel (Hospital Universitari Vall d'Hebron) ; Soler, María José (Hospital del Mar (Barcelona, Catalunya)) ; Barrios, Clara (Hospital del Mar (Barcelona, Catalunya)) ; Sousa, Fernando (Hospital Rio Carrión) ; Toran, Daniel (Hospital General de Jerez) ; Tornero Molina, Fernando (Hospital Universitario Del Sureste) ; Usón Carrasco, José Javier (Hospital Virgen de La Luz (Cuenca)) ; Valera Cortes, Iidefonso (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Vilaprinyo del Perugia, Mª Merce (Institut Catala d'Urologia i Nefrologia) ; Virto Ruiz, Rafael C. (Hospital San Jorge) ; Carratalá, Vicente Pallarés (Clinica MEDEFIS) ; Altozano, Carlos Santos (CS Azuqueca de Henares) ; Ródenas, Miguel Artigao (CS Zona III) ; Gil, Inés Gil (Área Básica Sanitaria de Arán) ; Gil, Francisco Adan (CS Alfaro) ; Criado, Emilio García (Centro de Salud Del Carpio) ; Belinchón, Rafael Durá (CS Godella) ; Ma Fernández Toro, Jose (CS Zona Centro) ; Antonio Divisón Garrote, Juan (Consultorio de Fuentealbilla) ; Universitat Autònoma de Barcelona
Chronic kidney disease (CKD) is a major risk factor for end-stage renal disease, cardiovascular disease and premature death. Despite classical clinical risk factors for CKD and some genetic risk factors have been identified, the residual risk observed in prediction models is still high. [...]
2019 - 10.3389/fgene.2019.00118
Frontiers in genetics, Vol. 10 Núm. FEB (2019) , p. 118  
5.
12 p, 3.0 MB Epitope characterization of a monoclonal antibody that selectively recognizes allotypes / Falco, Michela (IRCCS Istituto Giannina Gaslini) ; Meazza, Raffaella (IRCCS Ospedale Policlinico San Martino) ; Alicata, Claudia (IRCCS Ospedale Pediatrico Bambino Gesù) ; Canevali, Paolo (IRCCS Ospedale Policlinico San Martino) ; Muntasell i Castellví, Aura 1972- (Institut Hospital del Mar d'Investigacions Mèdiques) ; Bottino, Cristina (DIMES, University of Genoa) ; Moretta, Lorenzo (IRCCS Ospedale Pediatrico Bambino Gesù) ; Pende, Daniela (IRCCS Ospedale Policlinico San Martino) ; Lopez-Botet, Miguel (Institut Hospital del Mar d'Investigacions Mèdiques) ; Universitat Autònoma de Barcelona
Killer immunoglobulin-like receptor (KIR) genes code for a family of inhibitory and activating receptors, finely tuning NK cell function. Numerous studies reported the relevance of KIR allelic polymorphism on KIR expression, ligand affinity, and strength in signal transduction. [...]
2022 - 10.1111/tan.14630
Hla, Vol. 100 (june 2022) , p. 107-118  
6.
16 p, 1.1 MB Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference / Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg) ; Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest) ; Halbritter, Jan (Charité - Universitätsmedizin Berlin) ; Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance) ; Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto) ; Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard) ; Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center) ; Antignac, Corinne (Department of Genetics. Necker Hospital. APHP) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg) ; Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine) ; Bockenhauer, Detlef (Department of Renal Medicine. University College London) ; Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich) ; Florez, Jose C. (Department of Medicine. Harvard Medical School) ; Fowler, Kevin J. (The Voice of the Patient. Inc.) ; Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina) ; Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine) ; Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry) ; Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center) ; Goldstein, David B. (Department of Genetics and Development. Columbia University) ; Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine) ; Greka, Anna (Department of Medicine. Brigham and Women's Hospital. Harvard Medical School) ; Gross, Oliver (University Medical Center Göttingen) ; Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System) ; Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic) ; Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ; Hung, Adriana M. (VA Tennessee Valley Healthcare System. Division of Nephrology and Hypertension. Department of Medicine. Vanderbilt Center for Kidney Disease. Vanderbilt Precision Nephrology Program. Vanderbilt University Medical Center) ; Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen) ; Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH)) ; Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan) ; Lanktree, Matthew B. (Department of Medicine. McMaster University) ; Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk) ; Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne) ; Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine) ; Ojo, Akinlolu (University of Kansas School of Medicine) ; Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine) ; Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck)) ; Pei, York (Division of Nephrology. University Health Network) ; Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School) ; Rhee, Eugene P. (Massachusetts General Hospital) ; Sanna-Cherchi, Simone (Columbia University) ; Savige, Judy (The University of Melbourne) ; Sayer, John (NIHR Newcastle Biomedical Research Centre) ; Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia) ; Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics) ; Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System) ; Somlo, Stefan (Yale University. Department of Genetics) ; Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine) ; Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics) ; Weinstock, André (Alport Syndrome Foundation) ; Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute) ; Wuttke, Matthias (University of Freiburg) ; Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease) ; King, Jennifer M. (August Editorial) ; Cheung, Michael (KDIGO) ; Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc) ; Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health) ; Gharavi, Ali G. (Columbia University Irving Medical Center) ; Universitat Autònoma de Barcelona
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. [...]
2022 - 10.1016/j.kint.2022.03.019
Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141  
7.
17 p, 1.5 MB Multi-ancestry genome-wide association study of asthma exacerbations / Herrera-Luis, Esther (Universidad de La Laguna. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Ortega, Victor E. (División de Medicina Respiratoria. Departamento de Medicina Interna. Mayo Clinic) ; Ampleford, Elizabeth J. (Department of Internal Medicine. Center for Precision Medicine. Wake Forest School of Medicine) ; Sio, Yang Yie (Department of Biological Sciences. National University of Singapore) ; Granell, Raquel (MRC Integrative Epidemiology Unit (IEU). Population Health Sciences. Bristol Medical School. University of Bristol) ; de Roos, Emmely (Department of Respiratory Medicine. Ghent University Hospital) ; Terzikhan, Natalie (Department of Respiratory Medicine. Ghent University Hospital) ; Vergara, Ernesto Elorduy (Institute of Computation Biology. Helmholtz Zentrum München. German Research Center for Environmental Health) ; Hernandez-Pacheco, Natalia (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Perez-Garcia, Javier (Universidad de La Laguna. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Martin-Gonzalez, Elena (Universidad de La Laguna. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Lorenzo-Diaz, Fabian (Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias. Universidad de La Laguna) ; Hashimoto, Simone (Department of Respiratory Medicine. Amsterdam University Medical Center. University of Amsterdam) ; Brinkman, Paul (Department of Respiratory Medicine. Amsterdam University Medical Center. University of Amsterdam) ; Jorgensen, Andrea L. (Department of Health Data Science. Institute of Population Health. University of Liverpool) ; Yan, Qi (Department of Obstetrics and Gynecology. Columbia University Irving Medical Center) ; Forno, Erick (Division of Pediatric Pulmonary Medicine. UPMC Children's Hospital of Pittsburgh. University of Pittsburgh) ; Vijverberg, Susanne J. (Department of Paediatric Respiratory Medicine and Allergy. Emma's Children Hospital. Amsterdam UMC. University of Amsterdam) ; Lethem, Ryan (MRC Integrative Epidemiology Unit (IEU). Population Health Sciences. Bristol Medical School. University of Bristol) ; Espuela-Ortiz, Antonio (Universidad de La Laguna. Departamento de Bioquímica, Microbiología, Biología Celular y Genética) ; Gorenjak, Mario (Center for Human Molecular Genetics and Pharmacogenomics. Faculty of Medicine. University of Maribor) ; Eng, Celeste (Department of Medicine. University of California San Francisco) ; González-Pérez, Ruperto (Unidad de Asma Grave. Servicio de Alergología. Hospital Universitario de Canarias.) ; Hernández-Pérez, José M. (Hospital General de La Palma. Servicio de Neumología) ; Poza-Guedes, Paloma (Hospital Universitario de Canarias. Unidad de Asma Grave. Servicio de Alergología) ; Sardón, Olaia (Universidad del País Vasco. Departamento de Pediatría) ; Corcuera, Paula (Hospital Universitario Donostia. Division of Pediatric Respiratory Medicine) ; Hawkins, Greg A. (Department of Biochemistry. Wake Forest School of Medicine) ; Marsico, Annalisa (Computational Health Center. Helmholtz Zentrum München. German Research Center for Environmental Health) ; Bahmer, Thomas (Airway Research Center North (ARCN). Members of the Germany Center for Lung Research (DZL)) ; Rabe, Klaus F. (Airway Research Center North (ARCN). Members of the Germany Center for Lung Research (DZL)) ; Hansen, Gesine (Department of Pediatric Pneumology. Allergology and Neonatology. Hannover Medical School) ; Kopp, Matthias V. (Department of Paediatric Respiratory Medicine. Inselspital. University Children's Hospital of Bern. University of Bern) ; Rios, Raimon (Programa de Pós Graduação em Imunologia (PPGIm). Instituto de Ciências da Saúde. Universidade Federal da Bahia (UFBA)) ; Cruz, Maria Jesús (Hospital Universitari Vall d'Hebron) ; González-Barcala, Francisco Javier (Complejo Hospitalario Universitario de Santiago de Compostela. Servicio de Neumología) ; Olaguibel, José María (Complejo Hospitalario de Navarra) ; Plaza, Vicente (Institut d'Investigació Biomèdica Sant Pau) ; Quirce Gancedo, Santiago (Hospital Universitario La Paz. Instituto de Investigación Hospital Universitario La Paz. Servicio de Alergología) ; Canino, Glorisa (Behavioral Sciences Research Institute. University of Puerto Rico) ; Cloutier, Michelle (Department of Pediatrics. University of Connecticut) ; Del Pozo, Victoria (Instituto de Investigación Sanitaria Hospital Universitario Fundación Jiménez Díaz. Servicio de Inmunología) ; Rodriguez-Santana, Jose R. (Centro de Neumología Pediátrica) ; Korta-Murua, Javier (Universidad del País Vasco. Departamento de Pediatría) ; Villar, Jesús (Hospital Universitario de Gran Canaria Doctor Negrín. Multidisciplinary Organ Dysfunction Evaluation Research Network. Research Unit) ; Potočnik, Uros (Laboratory for Biochemistry. Molecular Biology and Genomics. Faculty for Chemistry and Chemical Engineering. University of Maribor) ; Figueiredo, Camila (Instituto de Ciências da Saúde. Universidade Federal da Bahia) ; Kabesch, Michael (Department of Paediatric Pneumology and Allergy. University Children's Hospital Regensburg (KUNO)) ; Mukhopadhyay, Somnath (Population Pharmacogenetics Group. Biomedical Research Institute. Ninewells Hospital and Medical School. University of Dundee) ; Pirmohamed, Munir (Department of Pharmacology and Therapeutics. Institute of Systems. Molecular and Integrative Biology. University of Liverpool) ; Hawcutt, Daniel (NIHR Alder Hey Clinical Research Facility. Alder Hey Children's Hospital) ; Melén, Erik (Sachs' Children's Hospital. South General Hospital) ; Palmer, Colin (Population Pharmacogenetics Group. Biomedical Research Institute. Ninewells Hospital and Medical School. University of Dundee) ; Turner, Steve (Child Health. University of Aberdeen) ; Maitland-van der Zee, Anke H. (Department of Paediatric Respiratory Medicine and Allergy. Emma's Children Hospital. Amsterdam UMC. University of Amsterdam) ; von Mutius, Erika (Comprehensive Pneumology Center Munich (CPC-M). Member of the German Center for Lung Research) ; Celedón, Juan C. (Division of Pediatric Pulmonary Medicine. UPMC Children's Hospital of Pittsburgh. University of Pittsburgh) ; Brusselle, Guy (Department of Respiratory Medicine. Erasmus University Medical Center) ; Chew, Fook Tim (Department of Biological Sciences. National University of Singapore) ; Bleecker, Eugene (Division of Genetics. Genomics. and Precision Medicine. Department of Internal Medicine. University of Arizona College of Medicine) ; Meyers, Deborah (Division of Genetics. Genomics. and Precision Medicine. Department of Internal Medicine. University of Arizona College of Medicine) ; Burchard, Esteban G. (Department of Bioengineering and Therapeutic Sciences. University of California San Francisco) ; Pino-Yanes, Maria (Universidad de la Laguna. Instituto de Tecnologías Biomédicas)
Background: Asthma exacerbations are a serious public health concern due to high healthcare resource utilization, work/school productivity loss, impact on quality of life, and risk of mortality. The genetic basis of asthma exacerbations has been studied in several populations, but no prior study has performed a multi-ancestry meta-analysis of genome-wide association studies (meta-GWAS) for this trait. [...]
2022 - 10.1111/pai.13802
Pediatric Allergy and Immunology, Vol. 33 Núm. 6 (june 2022) , p. e13802  
8.
11 p, 1.6 MB Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia / Guardiola-Ripoll, Maria (Centro de Investigación Biomédica en Red de Salud Mental) ; Sotero-Moreno, Alejandro (FIDMAG Germanes Hospitalàries Research Foundation) ; Almodóvar-Payá, Carmen (Centro de Investigación Biomédica en Red de Salud Mental) ; Hostalet, Noemí (FIDMAG Germanes Hospitalàries Research Foundation) ; Guerrero-Pedraza, Amalia (Benito Menni, Complejo Asistencial en Salud Mental) ; Ramiro, Núria (Hospital San Rafael (Barcelona, Catalunya)) ; Ortiz-Gil, Jordi (Hospital General de Granollers. Unitat de Psicologia) ; Arias, Barbara (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals) ; Madre Rull, Mercè (Institut d'Investigació Biomèdica Sant Pau) ; Soler-Vidal, Joan (Benito Menni, Complejo Asistencial en Salud Mental) ; Salvador, Raymond (Centro de Investigación Biomédica en Red de Salud Mental) ; McKenna, Peter J. (Centro de Investigación Biomédica en Red de Salud Mental) ; Pomarol-Clotet, Edith (Centro de Investigación Biomédica en Red de Salud Mental) ; Fatjó-Vilas, Mar (Universitat de Barcelona. Departament de Biologia Evolutiva, Ecologia i Ciències Ambientals)
The DISC1 gene is one of the most relevant susceptibility genes for psychosis. However, the complex genetic landscape of this locus, which includes protective and risk variants in interaction, may have hindered consistent conclusions on how DISC1 contributes to schizophrenia (SZ) liability. [...]
2022 - 10.1038/s41598-022-10660-8
Scientific reports, Vol. 12 Núm. 1 (december 2022) , p. 7351  
9.
11 p, 1.2 MB Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients / Gil-Gómez, Antonio (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Rojas, Ángela (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; García-Lozano, María R. (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Muñoz-Hernández, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Gallego-Durán, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Maya-Miles, Douglas (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Montero-Vallejo, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Gato, Sheila (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Gallego, Javier (Instituto de Biomedicina de Sevilla) ; Francés, Rubén (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Soriano, German (Institut d'Investigació Biomèdica Sant Pau) ; Ampuero, Javier (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Romero-Gómez, Manuel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
A common splice variant in HSD17B13 (rs72613567:TA) was recently found to be associated with a reduced risk of developing chronic liver disease in NAFLD patients and a reduced risk of progression to advanced fibrosis and cirrhosis. [...]
2022 - 10.3390/ijms231911840
International journal of molecular sciences, Vol. 23 Núm. 19 (october 2022) , p. 11840  
10.
14 p, 2.7 MB Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome / Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ; Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada) ; Guzmán-Jimenez, Andrea (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ; Rivera-Egea, Rocío (Instituto de Investigación Sanitaria La Fe) ; Garrido, Nicolás (Instituto de Investigación Sanitaria La Fe) ; Luján, Saturnino (Instituto de Investigación Sanitaria La Fe) ; Romeu, Gema (Instituto de Investigación Sanitaria La Fe) ; Santos-Ribeiro, Samuel (Department of Obstetrics and Gynecology. Faculty of Medicine. University of Lisbon) ; Castilla, José Antonio (CEIFER-GAMETIA Biobank) ; Gonzalvo, M. Carmen (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Clavero, Ana (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ; Vicente, F. Javier (UGC de Urología. HU Virgen de las Nieves) ; Maldonado, Vicente (UGC de Obstetricia y Ginecología. Complejo Hospitalario de Jaén) ; González-Muñoz, Sara (Departamento de Genética e Instituto de Biotecnología. Centro de Investigación Biomédica. Universidad de Granada) ; Rodríguez-Martín, Inmaculada (Instituto de Parasitología y Biomedicina "López-Neyra") ; Burgos, Miguel (Universidad de Granada. Departamento de Genética) ; Jiménez, Rafael (Universidad de Granada. Departamento de Genética) ; Pinto, Maria Graça (Centro Hospitalar Universitário de Lisboa Central) ; Pereira, Isabel (Centro Hospitalar Universitário de Lisboa Norte) ; Nunes, Joaquim (Departamento de Obstetrícia. Ginecologia e Medicina da Reprodução. Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte) ; Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ; López-Rodrigo, Olga (Laboratory of Seminology and Embryology. Andrology Service-Fundació Puigvert) ; Pereira-Caetano, Iris (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ; Marques, Patricia Isabel (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Carvalho, Filipa (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ; Barros, Alberto (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina da Universidade do Porto) ; Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ; Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Gonçalves, João (ToxOmics-Centro de Toxicogenómica e Saúde Humana. Nova Medical School) ; Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ; Lopes, AlexandraM. (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ; Carmona, F. David (Instituto de Investigación Sanitaria de Granada) ; Palomino-Morales, Rogelio J. (Universidad de Granada. Departamento de Bioquímica y Biología Molecular)
We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood-testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). [...]
2022 - 10.3390/jpm12060932
Journal of personalized medicine, Vol. 12 Núm. 6 (june 2022) , p. 932  

Articles : 55 records found   1 - 10nextend  jump to record:
Research literature 1 records found  
1.
1 p, 1.7 MB MDM4 polymorphisms associated with and increased risk of acute lymphoblastic leukaekmia [i.e. leukemia] in Caucasian populations / Fuentes Palacios, Diego ; Armengol Rosell, Gemma, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
Acute lymphoblastic leukemia (ALL) is a well-known malignant disorder affecting both children and adults. Althouhg the therapeutic limits have been maximized and optimized greatly, a better understanding of ALL is required for further improvements as prognostic value and cancer risk, to name a few. [...]
2015
Grau en Genètica [833]  

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