Results 131 to 140 of about 8,942,317 (309)
Quantifying risk modifiers of hereditary hemochromatosis using genomic and electronic health record data
JHEP ReportsBackground & Aims: Hereditary hemochromatosis is an autosomal recessive disorder of excessive iron accumulation. Early diagnosis enables treatment before organ damage. The C282Y variant in the HFE gene is the main cause, but its penetrance of only 20%Jarkko Toivonen, Jonna Clancy, Fredrik Åberg, Jarmo Ritari, Mikko Arvas, Aarno Palotie, Mark Daly, Bridget Riley-Gills, Howard Jacob, Coralie Viollet, Slavé Petrovski, Alix Berton, Santha Ramakrishnan, Ellen Tsai, Zhihao Ding, Emily Holzinger, Robert Plenge, Joseph Maranville, Mark McCarthy, Rion Pendergrass, Jonathan Davitte, Chia-Yen Chen, Melis Atalar Aksit, Anna Vlahiotis, Katherine Klinger, Clement Chatelain, Jorg Blankenstein, Karol Estrada, Robert Graham, Dawn Waterworth, Chris O´Donnell, Nicole Renaud, Tomi P. Mäkelä, Jaakko Kaprio, Minna Ruddock, Lila Kallio, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Taneli Raivio, Eero Punkka, Teija Kekonen, Raisa Serpi, Kati Kristiansson, Sanna Siltanen, Veli-Matti Kosma, Arto Mannermaa, Jari Laukkanen, Tiina Jokela, Mervi Ahlroth, Johanna Mäkelä, Outi Tuovila, Jeffrey Waring, Bridget Riley-Gillis, Fedik Rahimov, Ioanna Tachmazidou, Slavé Petrovski, Alix Berton, Santha Ramakrishnan, Ellen Tsai, Zhihao Ding, Marc Jung, Hanati Tuoken, Shameek Biswas, Benjamin Sun, Rion Pendergrass, Jonathan Davitte, Neha Raghavan, Jae-Hoon Sul, Melis Atalar Aksit, Xinli Hu, Katherine Klinger, Robert Graham, Dawn Waterworth, Nicole Renaud, Ma´en Obeidat, Jonathan Chung, Jonas Zierer, Mari Niemi, Samuli Ripatti, Johanna Schleutker, Markus Perola, Tiina Wahlfors, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Arto Mannermaa, Katriina Aalto-Setälä, Mika Kähönen, Jari Laukkanen, Johanna Mäkelä, Hanna Kujala, Triin Laisk, Natalia Pujol, Mika Kähönen, Veikko Salomaa, Jaana Suvisaari, Satu Koskela, Jouni Lauronen, Kristiina Aittomäki, Pirkko Pussinen, Tuomo Meretoja, Heikki Joensuu, Peeter Karihtala, Emma Juuri, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Fredrik Åberg, Daniel Gordin, Patrik Finne, Joni A. Turunen, Minna Raivio, Pentti Tienari, Martti Färkkilä, Jukka Koskela, Sampsa Pikkarainen, Kari Eklund, Paula Kauppi, Daniel Gordin, Juha Sinisalo, Marja-Riitta Taskinen, Tiinamaija Tuomi, Timo Hiltunen, Johanna Mattson, Eveliina Salminen, Terhi Ollila, Katariina Hannula-Jouppi, Oskari Heikinheimo, Ilkka Kalliala, Lauri Aaltonen, Erkki Isometsä, Antti Aarnisalo, Ilkka Immonen, Salla Ranta, Filip Scheperjans, Felix Vaura, Nina Mars, Esa Pitkänen, Hannele Laivuori, Katja Kivinen, Elisabeth Widen, Taru Tukiainen, Hanna Ollila, Elmo Saarentaus, Anne Kerola, Eero Vuoksimaa, Joni Lindbohm, Zhiyu Yang, Matthew Sampson, Adrian Banerji, Michelle McNulty, Aoxing Liu, Joel Rämö, Austin Argentieri, Amanda Elliott, Elisa Rahikkala, Kirsi Sipilä, Valtteri Julkunen, Ville Leinonen, Sanna Toppila-Salmi, Mikko Hiltunen, Eino Solje, Hannu Kankaanranta, Antti Mäkitie, Iiris Hovatta, Niko Välimäki, Minttu Marttila, Anne Portaankorva, Eija Laakkonen, Heidi Silven, Eeva Sliz, Riikka Arffman, Susanna Savukoski, Riitta Kaarteenaho, Jaakko Tyrmi, Laura Kuusalo, Laura Pirilä, Tapio Hellman, Matti Vuori, Teemu Niiranen, Timo Blomster, Johanna Huhtakangas, Terttu Harju, Kaisa Tasanen, Laura Huilaja, Vuokko Anttonen, Marja Vääräsmäki, Outi Uimari, Laure Morin-Papunen, Maarit Niinimäki, Terhi Piltonen, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Mikko Kiviniemi, Oili Kaipiainen-Seppänen, Margit Pelkonen, Päivi Auvinen, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Kai Kaarniranta, Jukka Peltola, Airi Jussila, Katri Kaukinen, Pia Isomäki, Jussi Hernesniemi, Annika Auranen, Hannu Uusitalo, Teea Salmi, Venla Kurra, Laura Kotaniemi-Talonen, Argyro Bizaki-Vallaskangas, Juha Rinne, Roosa Kallionpää, Markku Voutilainen, Antti Palomäki, Laura Pirilä, Riitta Lahesmaa, Kaj Metsärinne, Jenni Aittokallio, Klaus Elenius, Sirkku Peltonen, Leena Koulu, Ulvi Gursoy, Varpu Jokimaa, Tytti Willberg, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Apinya Lertratanakul, Relja Popovic, Mengzhen Liu, Anneke Den Hollander, Jan Freudenberg, Britney Milkovich, Andrew Blumenfeld, Tushar Kumar, Dirk Paul, Bram Prins, Eleanor Wheeler, Kousik Kundu, Santosh Atanur, Andrew Lowe, Thomas Spargo, Oliver Burren, Margarete Fabre, Fabio Baschiera, Hans van Leeuwen, Himanshu Manchanda, Karl Heilbron, Martin Rao, Nicole Schmidt, Samu Kurki, Johanna Mielke, Juho Immonen, Thomas Battram, Tobias Hogrebe, Susan Eaton, Ketian Yu, Stephanie Loomis, Coro Paisan-Ruiz, Elke Markert, Frank Li, Yao Hu, Christoph Ogris, Eric Simon, Julio Cesar Bolivar Lopez, Monika Frysz, Marla Hochfeld, Cara Carty, Michael Turchin, Neelakshi Jog, Corneliu Bodea, Janie Shelton, Chen Li, Kritika Singh, Peng Jiang, Stephanie Loomis, Elena Sanchez, Lilith Moss, Zijie Zhao, Anna Podgornaia, Natalie Bowers, Edmond Teng, Tim Lu, Hubert Chen, Jennifer Schutzman, Erich Strauss, Hao Chen, David Choy, Rion Pendergrass, Brian Yaspan, Cameron Adams, Mark McCarthy, Michael Rothenberg, Rion Pendergrass, Sergio Dellepiane, Anubha Mahajan, Michael Holmes, Anubha Mahajan, Diana Chang, Tushar Bhangale, Fanli Xu, Laura Addis, John Eicher, Linda McCarthy, Jorge Esparza Gordillo, Joanna Betts, Rajashree Mishra, Audrey Chu, Diptee Kulkarni, Janet Kumar, Charli Harlow, Lea Sarow-Blat, Diana L. Cousminer, Jagtar Nijjar, Jessica Chao, Michal Magid, Shashank Jariwala, Chris Floyd, Dan Swerdlow, Erding Hu, Prerak Desai, Stephen Haddad, Damien Croteau-Chonka, Billy Fahy, Paola Bronson, Kirsi Auro, David Pulford, Sauli Vuoti, Dermot Reilly, Karen He, Ekaterina Khramtsova, Amy Hart, Meijian Guan, Alessandro Porello, P. Dunnmon, Sara Gale, Brice Keyes, John Kwon, Jonathan Sherlock, Matt Loza, Chris Whelan, W. Galpern, Yanfei Zhang, Mona Selej, Abolfazl Doostparast Torshizi, Qingqin S. Li, Sahar Mozzafari, Christopher Deboever, Jason Miller, Fabiana Farias, Andrey Loboda, Jorge Del-aguila, Elisabeth Vollmann, Jozsef Karman, Julie Fiore, Rajesh Kamath, Andrei Popescu, Delphine Fagegaltier, Travis Barr, Aristide Merola, Oliver Freeman, Simonne Longerich, Enrico Ferrero, Nikos Patsopoulos, Nancy Finkel, Sabina Pfister, Shola Richards, Katherine Mccauley, Xiaobo Xia, Mike Mendelson, Majd Mouded, Debby Ngo, Kirsi Kalpala, Melissa Miller, Nan Bing, Jaakko Parkkinen, Heli Lehtonen, Stefan McDonough, Ying Wu, Erin Macdonald-Dunlop, Jessica Chung, Michael McLean, Joshua Chiou, Hye In Kim, Sivakumar Pitchumani, Sumedha Jassal, Madhurima Saxena, Catherine O’Riordan, Samuel Lessard, Suzanne Jacobs, Hamid Mattoo, David Habiel, Guanling Huan, Lila Kallio, Tiina Wahlfors, Jukka Partanen, Eero Punkka, Raisa Serpi, Sanna Siltanen, Veli-Matti Kosma, Tiina Jokela, Anu Jalanko, Risto Kajanne, Mervi Aavikko, Helen Cooper, Denise Öller, Tarja Laitinen, Sofia Kuitunen, Auli Toivola, Rodos Rodosthenous, Mitja Kurki, Juha Karjalainen, Pietro Della Briotta Parolo, Arto Lehisto, Juha Mehtonen, Reza Jabal, Mutaamba Maasha, Sanni Ruotsalainen, Samuel Jones, Raymond Walters, Paavo Häppölä, L. Elisa Lahtela, Johanna Paltta, Juulia Partanen, Mari Kaunisto, Elina Kilpeläinen, Tianduanyi Wang, Timo P. Sipilä, Oluwaseun Alexander Dada, Awaisa Ghazal, Rigbe Weldatsadik, Jaska Uimonen, Kati Donner, Anu Loukola, Päivi Laiho, Susanna Lemmelä, Teemu Paajanen, Arto Pietilä, Aki Havulinna, Mary Pat Reeve, Shanmukha Sampath Padmanabhuni, Harri Siirtola, Javier Gracia-Tabuenca, Marika Kaakinen, Shuang Luo, Vincent Llorens, Dawit Yohannes, Iina Laak, Mervi Ahlroth, Johanna Mäkelä, Pauli Wihuri, Tom Southerington, Meri Lähteenmäki +460 moredoaj +1 more sourceFrom mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato +2 morewiley +1 more sourceDesign and analysis strategies for robust microbiome ageing research
FEBS Letters, EarlyView.The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş +5 morewiley +1 more sourceGermline HLA heterozygosity is associated with decreased lung cancer risk
HGG AdvancesSummary: Heterozygosity at human leukocyte antigen (HLA) loci may improve lung cancer immunosurveillance by increasing recognition of the tumor by the immune system.Taotao Tan, Vikram R. Shaw, Jinyoung Byun, Hyun-Sung Lee, Younghun Han, Yafang Li, Rayjean J. Hung, David C. Christiani, Xin-An Wang, Mattias Johansson, Xiangjun Xiao, David Zaridze, Stig Egil Bojesen, Sanjay Shete, Demetrios Albanes, Melinda C. Aldrich, Adonina Tardon, Guillermo Fernandez-Tardon, Loïc Le Marchand, Gad Rennert, Heike Bickeböller, H.-Erich Wichmann, Angela Risch, John K. Field, Michael Davies, Penella Woll, Lambertus A. Kiemeney, Aage Haugen, Shanbeh Zienolddiny, Stephen Lam, Mikael Johansson, Kjell Grankvist, Matthew B. Schabath, Angeline Andrew, Philip Lazarus, Susanne M. Arnold, Dakai Zhu, Maria Teresa Landi, James McKay, Christopher Amos, Chao Cheng +40 moredoaj +1 more sourcePrinciples in genetic risk assessment
Therapeutics and Clinical Risk Management, 2005 Risk assessment constitutes an essential component of genetic counseling and testing, and the genetic risk should be estimated as accurately as possible for individual and family decision making. All relevant information retrieved from population studies and pedigree and genetic testing enhances the accuracy of the assessment of an individual's genetic openaire +3 more sourcesReconstructing enzyme evolution by protein engineering
FEBS Letters, EarlyView.Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...Lukas Drexler, Markus R. Busch, Reinhard Sterner +2 morewiley +1 more sourcePathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants
, 2014 Sergi Sayols-Baixeras, Carla Lluís-Ganella, Gavin Lucas, Roberto ElosuaCardiovascular Epidemiology and Genetics Research Group, Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, SpainAbstract: Coronary artery disease (CAD) Lucas G, Sayols-Baixeras S, Lluís-Ganella C, Elosua R +3 morecore
