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Artigo Revisado por pares

Sinikka Pöllänen, Laura Voutilainen,

The purpose of this study was to explore the meanings of and intentions behind craft-based leisure activities among stay-at-home mothers. The study attempts to shed light on the meanings of craft in relation to the participants' and their families' well-being. This qualitative study was based on the written narratives of 34 stay-at-home mothers, ages 23–40. The meanings of craft-making was described by home centeredness, items as personal fingerprints, mental resources, personal growth and identity, ...

Tópico(s): Crafts, Textile, and Design

2017 - Taylor & Francis | Leisure Sciences

Artigo Acesso aberto Revisado por pares

Erika Lindh, Hanna Lounela, Niina Ikonen, Tuija Kantala, Carita Savolainen‐Kopra, Ari Kauppinen, Pamela Österlund, Lauri Kareinen, Anna B. Katz, Tiina Nokireki, Jari Jalava, Laura London, Marjaana Pitkäpaasi, Jaana Vuolle, Anna-Liisa Punto-Luoma, Riikka Kaarto, Liina Voutilainen, Riikka Holopainen, Laura Kalin-Mänttäri, Terhi Laaksonen, Hannu Kiviranta, Aino Pennanen, Otto Helve, Ilona Laamanen, Merit Melin, Niina Tammiranta, Ruska Rimhanen‐Finne, Tuija Gadd, Mika Salminen,

Since mid-July 2023, an outbreak caused by highly pathogenic avian influenza A(H5N1) virus clade 2.3.4.4b genotype BB is ongoing among farmed animals in South and Central Ostrobothnia, Finland. Infections in foxes, American minks and raccoon dogs have been confirmed on 20 farms. Genetic analysis suggests introductions from wild birds scavenging for food in farm areas. Investigations point to direct transmission between animals. While no human infections have been detected, control measures are being ...

Tópico(s): Animal Disease Management and Epidemiology

2023 - European Centre for Disease Prevention and Control | Eurosurveillance

Artigo Revisado por pares

Petra Waris, Pekka Tani, Nina Lindberg, Jari Lipsanen, Kirsi Kettunen, Riittakerttu Kaltiala‐Heino, Leena-Kaisa Saarimaa, Outi Reinvall, A Voutilainen, Laura Hokkanen,

Schizophrenia (SCH) and pervasive developmental disorders (PDDs) belong to different diagnostic categories. There is, however, overlap between these 2 diagnostic groups. The aim of this preliminary study was to evaluate some aspects of neurocognitions and social cognitions in adolescents with SCH (n = 10, 2 boys and 8 girls; age range = 13.3–17.7 years), a PDD (n = 15, 7 boys and 8 girls; age range = 13.3–18.0 years), or both disorders (n = 8, 5 boys and 3 girls; age range = 13.5–18 years). Eight subtests (Information, ...

Tópico(s): Language Development and Disorders

2016 - Taylor & Francis | Applied Neuropsychology Child

Artigo Revisado por pares

Susanna Leivonen, A Voutilainen, Susanna Hinkka‐Yli‐Salomäki, Laura Timonen‐Soivio, Roshan Chudal, Mika Gissler, Jukka Huttunen, André Sourander,

Abstract Aim The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register. Methods Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the ...

Tópico(s): Syphilis Diagnosis and Treatment

2014 - Wiley | Acta Paediatrica

Artigo Acesso aberto Revisado por pares

Lien Nguyen, Lauren A. Laboissonniere, Shu Guo, Federica Pilotto, Olivier Scheidegger, A Oestmann, Jennetta W. Hammond, Herman Li, Anu Hyysalo, Roosa Peltola, Amrutha Pattamatta, Tao Zu, Merja H. Voutilainen, Harris A. Gelbard, Smita Saxena, Laura P.W. Ranum,

Mordes et al., 2020Mordes D. Morrison B.M. Ament X.H. Cantrell C. Mok J. Eggan P. Xue C. Wang J.Y. Eggan K. Rothstein J.D. Absence of survival and motor deficits in 500 repeat C9ORF72 BAC mice.Neuron. 2020; 108: 775-783Abstract Full Text Full Text PDF PubMed Scopus (12) Google Scholar did not detect the survival or motor phenotypes in C9orf72 BAC transgenic mice originally described by Liu et al., 2016Liu Y. Pattamatta A. Zu T. Reid T. Bardhi O. Borchelt D.R. Yachnis A.T. Ranum L.P. C9orf72 BAC Mouse ...

Tópico(s): Neurogenetic and Muscular Disorders Research

2020 - Cell Press | Neuron

Artigo Acesso aberto Revisado por pares

Maria Voutilainen, Päivi H. Lindfors, Sylvie Lefebvre, Laura Ahtiainen, Ingrid Fliniaux, Elisa Rysti, Marja Murtoniemi, Pascal Schneider, Ruth Schmidt‐Ullrich, Marja L. Mikkola,

Ductal growth of the mammary gland occurs in two distinct stages. The first round of branching morphogenesis occurs during embryogenesis, and the second round commences at the onset of puberty. Currently, relatively little is known about the genetic networks that control the initial phases of ductal expansion, which, unlike pubertal development, proceeds independent of hormonal input in female mice. Here we identify NF-κB downstream of the TNF-like ligand ectodysplasin (Eda) as a unique regulator ...

Tópico(s): Developmental Biology and Gene Regulation

2012 - National Academy of Sciences | Proceedings of the National Academy of Sciences

Artigo

Hanna M. Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong, Aditya Ambati, Selina Yogeshwar, Ryan P. Hillary, Otto Jolanki, Juliette Faraco, Mali Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, Jun Zhang, Seung‐Chul Hong, Tae Won Kim, Yves Dauvilliers, Lucie Barateau, Gert Jan Lammers, Rolf Fronczek, Geert Mayer, Joan Santamaría, Isabelle Arnulf, Stine Knudsen, May Kristin Lyamouri Bredahl, Per Medbøe Thorsby, Giuseppe Plazzi, Fabio Pizza, Monica Moresco, Catherine Crowe, Stephen K. Van Den Eeden, Michel Lecendreux, Patrice Bourgin, Takashi Kanbayashi, F Martínez-Orozco, Rosa Peraita‐Adrados, Antonio Benetó, Jacques Montplaisir, Alex Désautels, Yu‐Shu Huang, Thomas D. Als, Adam Ziemann, Ali Abbasi, Anne Lehtonen, Apinya Lertratanakul, Bridget Riley‐Gillis, Fedik Rahimov, Howard J. Jacob, Jeffrey F. Waring, Mengzhen Liu, Nizar Smaoui, Relja Popovic, Adam Platt, Athena Matakidou, Benjamin Challis, Dirk S. Paul, Glenda Lassi, Ioanna Tachmazidou, Antti Hakanen, Johanna Schleutker, Nina Pitkänen, Perttu Terho, Petri Virolainen, Arto Mannermaa, Veli‐Matti Kosma, Chia‐Yen Chen, Heiko Runz, Sally John, Sanni Lahdenperä, Stephanie Loomis, Susan Eaton, George Okafo, Heli Salminen‐Mankonen, Marc Jung, Nathan Lawless, Zhihao Ding, Joseph Maranville, Marla Hochfeld, Robert Plenge, Shameek Biswas, Masahiro Kanai, Mutaamba Maasha, Wei Zhou, Outi Tuovila, Raimo Pakkanen, Jari A. Laukkanen, Teijo Kuopio, Kristiina Aittomäki, Antti Mäkitie, Natalia Pujol, Triin Laisk, Katriina Aalto‐Setälä, Johanna Mäkelä, Marco Hautalahti, Sarah Smith, Tom Southerington, Eeva Kangasniemi, Henna Palin, Mika Kähönen, Sanna Siltanen, Tarja Laitinen, Felix Vaura, Jaana Suvisaari, Teemu Niiranen, Veikko Salomaa, Jukka Partanen, Mikko Arvas, Jarmo Ritari, Kati Hyvärinen, David F. Choy, Edmond Teng, Erich C. Strauss, Hao Chen, Hubert Chen, Jennifer L. Schutzman, Julie Hunkapiller, Mark I. McCarthy, Natalie Bowers, Rion Pendergrass, Tim Lu, Audrey Y. Chu, Diptee Kulkarni, Fanli Xu, Joanna Betts, John D. Eicher, Jorge Esparza Gordillo, Laura Addis, Linda McCarthy, Rajashree Mishra, Janet Kumar, Margaret G. Ehm, Kirsi Auro, David Pulford, Anne Pitkäranta, Anu Loukola, Eero Punkka, Malla-Maria Linna, Olli Carpén, Taneli Raivio, Joni A. Turunen, Tomi P. Mäkelä, Aino Salminen, Antti A. Aarnisalo, Daniel Gordin, David Rice, Erkki Isometsä, Eveliina Salminen, Heikki Joensuu, Ilkka Kalliala, Johanna Mattson, Juha Sinisalo, Jukka Koskela, Kari K. Eklund, Katariina Hannula-Jouppi, Lauri A. Aaltonen, Marja‐Riitta Taskinen, Martti Färkkilâ, Minna Raivio, Oskari Heikinheimo, Dirk S. Paul, Pekka Nieminen, Pentti Tienari, Pirkko J. Pussinen, Sampsa Pikkarainen, Terhi Ollila, Jaakko Tuomilehto, Timo P. Hiltunen, Tuomo J Meretoja, Tuula Salo, Ulla Palotie, Antti Palomäki, Jenni Aittokallio, Juha O. Rinne, Kaj Metsärinne, Klaus Elenius, Laura Pirilä, Leena Koulu, Markku Voutilainen, Riitta Lahesmaa, Roosa Kallionpää, Sirkku Peltonen, Tytti Willberg, Ulvi Kahraman Gürsoy, Varpu Jokimaa, Aarno Palotie, Anastasia Kytölä, Andrea Ganna, Anu Jalanko, Aoxing Liu, Arto Lehistö, Awaisa Ghazal, Elina Kilpeläinen, Elisabeth Widén, Elmo Saarentaus, Esa Pitkänen, Hanna M. Ollila, Hannele Laivuori, Henrike Heyne, Huei-Yi Shen, Jaakko Kaprio, Joel Rämö, Juha Karjalainen, Juha Mehtonen, Jyrki Pitkänen, Kalle Pärn, Kati Donner, Katja Kivinen, L. Elisa Lahtela, Mari Niemi, Mari Kaunisto, Mart Kals, Mary Pat Reeve, Mervi Aavikko, Nina Mars, Oluwaseun Alexander Dada, Pietro Della Briotta Parolo, Priit Palta, Rigbe Weldatsadik, Risto Kajanne, Rodos Rodosthenous, Samuli Ripatti, Sanni Ruotsalainen, Satu Strausz, Shabbeer Hassan, Shanmukha Sampath Padmanabhuni, Shuang Luo, Susanna Lemmelä, Taru Tukiainen, Timo P. Sipilä, Tuomo Kiiskinen, Vincent Llorens, Mark J. Daly, Jiwoo Lee, Kristin Tsuo, Mitja Kurki, Amanda Elliott, Aki S. Havulinna, Juulia Partanen, Robert Yang, Dermot F. Reilly, Alessandro Porello, Amy Hart, Dawn Waterworth, Ekaterina Khramtsova, Karen He, Meijian Guan, Qingqin S. Li, Sauli Vuoti, Eric Green, Robert Graham, Sahar V. Mozaffari, Adriana Huertas‐Vázquez, Andrey Loboda, Caroline S. Fox, Fabiana H.G. Farias, Jae-Hoon Sul, Jason Miller, Neha Raghavan, Simonne Longerich, Johannes Kettunen, Raisa Serpi, Reetta Hinttala, Tuomo Mantere, Anne M. Remes, Elisa Rahikkala, Johanna Huhtakangas, Kaisa Tasanen, Laura Huilaja, Laure Morin‐Papunen, Maarit Niinimäki, Marja Vääräsmäki, Outi Uimari, Peeter Karihtala, Terhi Piltonen, Terttu Harju, Timo Blomster, Vuokko Anttonen, Hilkka Soininen, Kai Kaarniranta, Liisa Suominen, Margit Pelkonen, Maria Siponen, Mikko Kiviniemi, Oili Kaipiainen‐Seppänen, Päivi Auvinen, Päivi Mäntylä, Reetta Kälviäinen, Valtteri Julkunen, Chris O’Donnell, Ma ́en Obeidat, Nicole Renaud, Debby Ngo, Majd Mouded,

Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals ...

Nature Portfolio

Revisão

Puya Gharahkhani, Eric Jorgenson, Pirro G. Hysi, Anthony P. Khawaja, Sarah A. Pendergrass, Xikun Han, Jue‐Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Hélène Choquet, Ayub Qassim, Navya Shilpa Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana I. Iglesias, Owen M. Siggs, Terri L. Young, Véronique 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, René Höhn, Alicia Poplawski, Li Jia Chen, Shi Song Rong, Tin Aung, Eranga N. Vithana, R. Rand Allingham, Murray H. Brilliant, Donald L. Budenz, Jessica N. Cooke Bailey, John H. Fingert, Douglas Gaasterland, Teresa Gaasterland, Jonathan L. Haines, Michael A. Hauser, Richard K. Lee, Paul R. Lichter, Yutao Liu, Sayoko E. Moroi, Jonathan S. Myers, Margaret A. Pericak‐Vance, Anthony Realini, Doug Rhee, Julia E. Richards, Robert Ritch, Joel S. Schuman, William K. Scott, Kuldev Singh, Arthur J. Sit, Douglas Vollrath, Robert N. Weinreb, Gadi Wollstein, Donald J. Zack, Shiwani Sharma, Sarah Martin, Tiger Zhou, Emmanuelle Souzeau, John E. Landers, Jude Fitzgerald, Richard Mills, Jamie E. Craig, Kathryn P. Burdon, Stuart L. Graham, Robert J. Casson, Ivan Goldberg, Andrew White, Paul R. Healey, David A. Mackey, Alex W. Hewitt, Masaki Shiono, Kazuo Misumi, Reiji Kaieda, Hiromasa Harada, Shiro Minami, Mitsuru Emi, Naoya Emoto, Hiroyuki Daida, Katsumi Miyauchi, Akira Murakami, Satoshi Asai, Mitsuhiko Moriyama, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Hideki Ito, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Ken Kodama, Hiromu Kutsumi, Yoshihisa Sugimoto, Yukihiro Koretsune, Hideo Kusuoka, Hideki Yanaiag, Akiko Nagai, Makoto Hirata, Yoichiro Kamatani, Kaori Muto, Koichi Matsuda, Yutaka Kiyohara, Toshiharu Ninomiya, Akiko Tamakoshi, Zentaro Yamagata, Taisei Mushiroda, Yoshinori Murakami, Koichiro Yuji, Yoichi Furukawa, Hitoshi Zembutsu, Toshihiro Tanaka, Yozo Ohnishi, Yusuke Nakamura, Anu Jalanko, Jaakko Kaprio, Kati Donner, Mari Kaunisto, Nina Mars, Alexander Dada, Anastasia Shcherban, Andrea Ganna, Arto Lehistö, Elina Kilpeläinen, Georg Brein, Awaisa Ghazal, Jarmo Harju, Kalle Pärn, Pietro Della Briotta Parolo, Risto Kajanne, Susanna Lemmelä, Timo P. Sipilä, Tuomas Sipilä, Ulrike Lyhs, Vincent Llorens, Teemu Niiranen, Kati Kristiansson, Lotta Männikkö, Manuel González Jiménez, Markus Perola, Regis Wong, Terhi Kilpi, Tero Hiekkalinna, Elina Järvensivu, Essi Kaiharju, Hannele Mattsson, Markku Laukkanen, Päivi Laiho, Sini Lähteenmäki, Tuuli Sistonen, Sirpa Soini, Adam Ziemann, Anne Lehtonen, Apinya Lertratanakul, Bob Georgantas, Bridget Riley‐Gillis, Danjuma Quarless, Fedik Rahimov, Graham Heap, Howard J. Jacob, Jeffrey F. Waring, J. Wade Davis, Nizar Smaoui, Relja Popovic, Sahar Esmaeeli, Jeff Waring, Athena Matakidou, Ben Challis, David A. Close, Slavé Petrovski, Antti Karlsson, Johanna Schleutker, Kari Pulkki, Petri Virolainen, Lila Kallio, Arto Mannermaa, Sami Heikkinen, Veli‐Matti Kosma, Chia‐Yen Chen, Heiko Runz, Jiang Liu, Paola G. Bronson, Sally John, Sanni Lahdenperä, Susan Eaton, Wei Zhou, Minna Hendolin, Outi Tuovila, Raimo Pakkanen, Joseph Maranville, Keith Usiskin, Marla Hochfeld, Robert Plenge, Robert Yang, Shameek Biswas, Steven M. Greenberg, Eija K. Laakkonen, Juha Kononen, Juha Paloneva, Urho M. Kujala, Teijo Kuopio, Jari A. Laukkanen, Eeva Kangasniemi, Kimmo Savinainen, Reijo Laaksonen, Mikko Arvas, Jarmo Ritari, Jukka Partanen, Kati Hyvärinen, Tiina Wahlfors, Andrew S. Peterson, Danny Oh, Diana Chang, Edmond Teng, Erich C. Strauss, Geoff Kerchner, Hao Chen, Hubert Chen, Jennifer L. Schutzman, John A. Michon, Julie Hunkapiller, Mark I. McCarthy, Natalie Bowers, Tim Lu, Tushar Bhangale, David Pulford, Dawn Waterworth, Diptee Kulkarni, Fanli Xu, Jo Betts, Jorge Esparza Gordillo, Joshua Hoffman, Kirsi Auro, Linda McCarthy, Soumitra Ghosh, Meg Ehm, Kimmo Pitkänen, Tomi P. Mäkelä, Anu Loukola, Heikki Joensuu, Juha Sinisalo, Kari K. Eklund, Lauri A. Aaltonen, Martti Färkkilâ, Olli Carpén, Dirk S. Paul, Pentti Tienari, Terhi Ollila, Jaakko Tuomilehto, Tuomo J Meretoja, Anne Pitkäranta, Joni A. Turunen, Katariina Hannula-Jouppi, Sampsa Pikkarainen, Sanna Seitsonen, Miika Koskinen, Antti Palomäki, Juha O. Rinne, Kaj Metsärinne, Klaus Elenius, Laura Pirilä, Leena Koulu, Markku Voutilainen, Markus Juonala, Sirkku Peltonen, Vesa Aaltonen, Andrey Loboda, Anna Podgornaia, Aparna Chhibber, Audrey Y. Chu, Caroline S. Fox, Dorothée Diogo, Emily Holzinger, John D. Eicher, Padhraig Gormley, Vinay Mehta, Xulong Wang, Johannes Kettunen, Katri Pylkäs, Marita Kalaoja, Minna K. Karjalainen, Reetta Hinttala, Riitta Kaarteenaho, Seppo Vainio, Tuomo Mantere, Anne M. Remes,

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for ...

Nature Portfolio

Artigo Revisado por pares

Tero Varimo, Hanna Huopio, Laura Kariola, Sirpa Tenhola, Raimo Voutilainen, Jorma Toppari, Sanna Toiviainen‐Salo, Esa Hämäläinen, Mari‐Anne Pulkkinen, Mitja Lääperi, Annika Tarkkanen, Kirsi Vaaralahti, Päivi J. Miettinen, Matti Hero, Taneli Raivio,

Background The treatment of constitutional delay of growth and puberty (CDGP) is an underinvestigated area in adolescent medicine. We tested the hypothesis that peroral aromatase inhibition with letrozole is more efficacious than intramuscular injection of low-dose testosterone in inducing puberty in boys with CDGP. Methods We did a randomised, controlled, open-label trial at four paediatric centres in Finland. Boys aged at least 14 years with CDGP who wanted medical intervention and exhibited the ...

Tópico(s): Growth Hormone and Insulin-like Growth Factors

2019 - Elsevier BV | The Lancet Child & Adolescent Health

Artigo Acesso aberto Revisado por pares

Rubina Tabassum, Joel Rämö, Pietari Ripatti, Jukka Koskela, Mitja Kurki, Juha Karjalainen, Priit Palta, Shabbeer Hassan, Javier Núñez-Fontarnau, Tuomo Kiiskinen, Sanni Söderlund, Niina Matikainen, Mathias J. Gerl, Michał A. Surma, Christian Klose, Nathan O. Stitziel, Hannele Laivuori, Aki S. Havulinna, Susan K. Service, Veikko Salomaa, Matti Pirinen, Anu Jalanko, Jaakko Kaprio, Kati Donner, Mari Kaunisto, Nina Mars, Alexander Dada, Anastasia Shcherban, Andrea Ganna, Arto Lehistö, Elina Kilpeläinen, Georg Brein, Awaisa Ghazal, Jarmo Harju, Kalle Pärn, Pietro Della Briotta Parolo, Risto Kajanne, Susanna Lemmelä, Timo P. Sipilä, Tuomas Sipilä, Ulrike Lyhs, Vincent Llorens, Teemu Niiranen, Kati Kristiansson, Lotta Männikkö, Manuel González Jiménez, Markus Perola, Regis Wong, Terhi Kilpi, Tero Hiekkalinna, Elina Järvensivu, Essi Kaiharju, Hannele Mattsson, Markku Laukkanen, Päivi Laiho, Sini Lähteenmäki, Tuuli Sistonen, Sirpa Soini, Adam Ziemann, Anne Lehtonen, Apinya Lertratanakul, Bob Georgantas, Bridget Riley‐Gillis, Danjuma Quarless, Fedik Rahimov, Graham Heap, Howard J. Jacob, Jeffrey F. Waring, J. Wade Davis, Nizar Smaoui, Relja Popovic, Sahar Esmaeeli, Jeff Waring, Athena Matakidou, Ben Challis, David A. Close, Slavé Petrovski, Antti Karlsson, Johanna Schleutker, Kari Pulkki, Petri Virolainen, Lila Kallio, Graham J. Mann, Sami Heikkinen, Veli‐Matti Kosma, Chia‐Yen Chen, Heiko Runz, Jiang Liu, Paola G. Bronson, Sally John, Sanni Lahdenperä, Susan Eaton, Wei Zhou, Minna Hendolin, Outi Tuovila, Raimo Pakkanen, Joseph Maranville, Keith Usiskin, Marla Hochfeld, Robert Plenge, Robert Yang, Shameek Biswas, Steven M. Greenberg, Eija K. Laakkonen, Juha Kononen, Juha Paloneva, Urho M. Kujala, Teijo Kuopio, Jari A. Laukkanen, Eeva Kangasniemi, Kimmo Savinainen, Reijo Laaksonen, Mikko Arvas, Jarmo Ritari, Jukka Partanen, Kati Hyvärinen, Tiina Wahlfors, Andrew S. Peterson, Danny Oh, Diana Chang, Edmond Teng, Erich C. Strauss, Geoff Kerchner, Hao Chen, Hubert Chen, Jennifer L. Schutzman, John A. Michon, Julie Hunkapiller, Mark I. McCarthy, Natalie Bowers, Tim Lu, Tushar Bhangale, David Pulford, Dawn Waterworth, Diptee Kulkarni, Fanli Xu, Jo Betts, Jorge Esparza Gordillo, Joshua Hoffman, Kirsi Auro, Linda McCarthy, Soumitra Ghosh, Meg Ehm, Kimmo Pitkänen, Tomi P. Mäkelä, Anu Loukola, Heikki Joensuu, Juha Sinisalo, Kari K. Eklund, Lauri A. Aaltonen, Martti Färkkilâ, Olli Carpén, Dirk S. Paul, Pentti Tienari, Terhi Ollila, Jaakko Tuomilehto, Tuomo J Meretoja, Anne Pitkäranta, Joni A. Turunen, Katariina Hannula-Jouppi, Sampsa Pikkarainen, Sanna Seitsonen, Miika Koskinen, Antti Palomäki, Juha O. Rinne, Kaj Metsärinne, Klaus Elenius, Laura Pirilä, Leena Koulu, Markku Voutilainen, Markus Juonala, Sirkku Peltonen, Vesa Aaltonen, Andrey Loboda, Anna Podgornaia, Aparna Chhibber, Audrey Y. Chu, Caroline S. Fox, Dorothée Diogo, Emily Holzinger, John D. Eicher, Padhraig Gormley, Vinay Mehta, Xulong Wang, Johannes Kettunen, Katri Pylkäs, Marita Kalaoja, Minna K. Karjalainen, Reetta Hinttala, Riitta Kaarteenaho, Seppo Vainio, Tuomo Mantere, Seppo Vainio, Anne M. Remes, Johanna Huhtakangas, Juhani Junttila, Kaisa Tasanen, Laura Huilaja, Marja Luodonpää, Nina Hautala, Peeter Karihtala, Saila Kauppila, Terttu Harju, Timo Blomster, Hilkka Soininen, Ilkka T. Harvima, Jussi Pihlajamäki, Kai Kaarniranta, Margit Pelkonen, Markku Laakso, Mikko Hiltunen, Mikko Kiviniemi, Oili Kaipiainen‐Seppänen, Päivi Auvinen, Reetta Kälviäinen, Valtteri Julkunen, Anders Mälarstig, Åsa K. Hedman, Catherine Marshall, Christopher D. Whelan, Heli Lehtonen, Jaakko Parkkinen, Kari Linden, Kirsi Kalpala, Melissa R. Miller, Nan Bing, Stefan McDonough, Xing Chen, Xinli Hu, Ying Wu, Annika Auranen, Airi Jussila, Hannele Uusitalo‐Järvinen, Hannu Kankaanranta, Hannu Uusitalo, Jukka Peltola, Mika Kähönen, Pia Isomäki, Tarja Laitinen, Teea Salmi, Anthony J. Muslin, Clarence Wang, Clément Chatelain, Ethan Xu, Franck Augé, Kathy Call, Kathy Klinger, Marika Crohns, Matthias Gossel, Kimmo Palin, Manuel A. Rivas, Harri Siirtola, Javier Gracia‐Tabuenca, Matti Jauhiainen, Mark J. Daly, Nelson B. Freimer, Aarno Palotie, Marja‐Riitta Taskinen, Kai Simons, Samuli Ripatti,

Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10 −8 ), 10 of which associate with CVD risk including five new loci- COL5A1 , GLTPD2 , SPTLC3 , MBOAT7 and GALNT16 (false ...

Tópico(s): Diabetes, Cardiovascular Risks, and Lipoproteins

2019 - Nature Portfolio | Nature Communications

Artigo Acesso aberto Revisado por pares

Laura Lahti, Maarja Haugas, Laura Tikker, Mikko Airavaara, Merja H. Voutilainen, Jenni E. Anttila, Suman Kumar, Caisa Inkinen, Marjo Salminen, Juha Partanen,

Local inhibitory GABAergic and excitatory glutamatergic neurons are important for midbrain dopaminergic and hindbrain serotonergic pathways controlling motivation, mood, and voluntary movements. Such neurons reside both within the dopaminergic nuclei, and in adjacent brain structures, including the rostromedial and laterodorsal tegmental nuclei. Compared to the monoaminergic neurons, the development, heterogeneity, and molecular characteristics of these regulatory neurons are poorly understood. ...

Tópico(s): Zebrafish Biomedical Research Applications

2015 - The Company of Biologists | Development

Artigo Acesso aberto Revisado por pares

Maged N. Kamel Boulos,

... Van Kessel Australia Jean-Francois Viel France Ari Voutilainen Finland John Vulule Kenya Edward Walker USA Neng Wan USA Fahui Wang USA Tai-Chi Wang Taiwan Hannah Weir USA Laura White USA Michael Widener Canada F Williams USA ...

Tópico(s): Academic Writing and Publishing

2016 - BioMed Central | International Journal of Health Geographics

Artigo

Jaakko Tyrmi, Tea Kaartokallio, A. Inkeri Lokki, Tiina Jääskeläinen, Eija Kortelainen, Sanni Ruotsalainen, Juha Karjalainen, Samuli Ripatti, Anna Kivioja, Triin Laisk, Johannes Kettunen, Anneli Pouta, Katja Kivinen, Eero Kajantie, Seppo Heinonen, Juha Kere, Hannele Laivuori, Eeva Ekholm, Reija Hietala-Koivu, Leea Keski‐Nisula, Kaarin Mäkikallio, Jukka Uotila, Susanna Sainio, Terhi Saisto, Marja Vääräsmäki, Tia Aalto-Viljakainen, Leena Georgiadis, Jenni Heikkinen‐Eloranta, Miira M. Klemetti, Sanna Suomalainen‐König, Satu Wedenoja, Satu Leminen, Aija Lähdesmäki, Susanna Mehtälä, Christina Salmén, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard J. Jacob, Dirk S. Paul, Athena Matakidou, Adam Platt, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Robert M. Plenge, Joseph Maranville, Mark I. McCarthy, Julie Hunkapiller, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Caroline S. Fox, Anders Mälarstig, K. Klinger, Deepak Raipal, Eric Green, Robert Graham, Robert Yang, Chris O ́Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Juhani Junttila, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari A. Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey F. Waring, Bridget Riley‐Gillis, Fedik Rahimov, Ioanna Tachmazidou, Chia‐Yen Chen, Zhihao Ding, Marc Jung, Shameek Biswas, Rion Pendergrass, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Xinli Hu, Sahar V. Mozaffari, Dawn Waterworth, Nicole Renaud, Ma ́en Obeidat, Johanna Schleutker, Mikko Arvas, Olli Carpén, Reetta Hinttala, Graham J. Mann, Katriina Aalto‐Setälä, Mika Kähönen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha O. Rinne, Roosa Kallionpää, Juulia Partanen, Ali Abbasi, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Sanni Lahdenperä, Natalie Bowers, Edmond Teng, Fanli Xu, Laura Addis, John D. Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Tim Lu, Linda McCarthy, Amy Hart, Meijian Guan, Jason E. Miller, Kirsi Kalpala, Melissa R. Miller, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Apinya Lertratanakul, David A. Close, Marla Hochfeld, Jorge Esparza Gordillo, Fabiana H.G. Farias, Nan Bing, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Alex Mackay, Glenda Lassi, Hubert Chen, Joanna Betts, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Jussi Hernesniemi, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Timo P. Hiltunen, Amanda Elliott, Mary Pat Reeve, Benjamin Challis, Audrey Y. Chu, Dermot F. Reilly, Mike Mendelson, Jaakko Parkkinen, Tuomo J Meretoja, Heikki Joensuu, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Esa Pitkänen, Relja Popovic, Jennifer L. Schutzman, Diptee Kulkarni, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, Sauli Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Mengzhen Liu, Stephanie Loomis, Erich C. Strauss, Hao Chen, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, David F. Choy, Ying Wu, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri A. Aaltonen, Varpu Jokimaa, Johannes Kettunen, Outi Uimari, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Elisabeth Widén, Taru Tukiainen, Niko Välimäki, Eija K. Laakkonen, Heidi Silven, Eeva Sliz, Riikka K. Arffman, Susanna Savukoski, Natalia Pujol, Janet Kumar, Iiris Hovatta, Erkki Isometsä, Kumar Veerapen, Hanna M. Ollila, Jaana Suvisaari, Thomas D. Als, Antti Mäkitie, Argyro Bizaki-Vallaskangas, Sanna Toppila‐Salmi, Tytti Willberg, Elmo Saarentaus, Antti A. Aarnisalo, Elisa Rahikkala, Kristiina Aittomäki, Fredrik Åberg, Mitja Kurki, Samuli Ripatti, Juha Karjalainen, Aki S. Havulinna, Juha Mehtonen, Priit Palta, Shabbeer Hassan, Pietro Della Briotta Parolo, Wei Zhou, Mutaamba Maasha, Susanna Lemmelä, Manuel A. Rivas, Mari Niemi, Aoxing Liu, Arto Lehistö, Andrea Ganna, Vincent Llorens, Henrike Heyne, Joel Rämö, Rodos Rodosthenous, Satu Strausz, Tuula Palotie, Kimmo Palin, Javier Gracia‐Tabuenca, Harri Siirtola, Tuomo Kiiskinen, Jiwoo Lee, Kristin Tsuo, Kati Kristiansson,

A genetic contribution to preeclampsia susceptibility has been established but is still incompletely understood.To disentangle the underlying genetic architecture of preeclampsia and preeclampsia or other maternal hypertension during pregnancy with a genome-wide association study (GWAS) of hypertensive disorders of pregnancy.This GWAS included meta-analyses in maternal preeclampsia and a combination phenotype encompassing maternal preeclampsia and preeclampsia or other maternal hypertensive disorders. ...

American Medical Association

Artigo

Eeva Sliz, Jaakko Tyrmi, Nilüfer Rahmioğlu, Krina T. Zondervan, Christian M. Becker, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard Jacob, Dirk S. Paul, Athena Matakidou, Adam Platt, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Heli Salminen‐Mankonen, Robert Plenge, Joseph Maranville, Mark I. McCarthy, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Caroline S. Fox, Anders Mälarstig, K. Klinger, Clément Chatelain, Matthias Gossel, Karol Estrada, Robert Graham, Robert Yang, Chris O ́Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Taneli Raivio, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari A. Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey F. Waring, Bridget Riley‐Gillis, Fedik Rahimov, Ioanna Tachmazidou, Chia‐Yen Chen, Zhihao Ding, Marc Jung, Shameek Biswas, Rion Pendergrass, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Xinli Hu, Åsa K. Hedman, Manuel A. Rivas, Dawn Waterworth, Nicole Renaud, Ma ́en Obeidat, Samuli Ripatti, Johanna Schleutker, Mikko Arvas, Olli Carpén, Reetta Hinttala, Arto Mannermaa, Katriina Aalto‐Setälä, Mika Kähönen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha O. Rinne, Roosa Kallionpää, Juulia Partanen, Ali Abbasi, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Sanni Lahdenperä, Natalie Bowers, Edmond Teng, Fanli Xu, Laura Addis, John D. Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Tim Lu, Linda McCarthy, Amy Hart, Meijian Guan, Jason Miller, Kirsi Kalpala, Melissa R. Miller, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Apinya Lertratanakul, Marla Hochfeld, Jorge Esparza Gordillo, Fabiana H.G. Farias, Nan Bing, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Glenda Lassi, Hubert Chen, Joanna Betts, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Jussi Hernesniemi, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Timo P. Hiltunen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Benjamin Challis, Audrey Y. Chu, Dermot F. Reilly, Mike Mendelson, Jaakko Parkkinen, Tuomo J Meretoja, Heikki Joensuu, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Esa Pitkänen, Relja Popovic, Jennifer L. Schutzman, Diptee Kulkarni, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, Sauli Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Mengzhen Liu, Stephanie Loomis, Erich C. Strauss, Hao Chen, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, David F. Choy, Ying Wu, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Hannele Laivuori, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri A. Aaltonen, Varpu Jokimaa, Marja Vääräsmäki, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Katja Kivinen, Elisabeth Widén, Taru Tukiainen, Niko Välimäki, Eija K. Laakkonen, Heidi Silven, Riikka K. Arffman, Susanna Savukoski, Triin Laisk, Natalia Pujol, Janet Kumar, Iiris Hovatta, Erkki Isometsä, Hanna M. Ollila, Jaana Suvisaari, Thomas D. Als, Antti Mäkitie, Argyro Bizaki-Vallaskangas, Sanna Toppila‐Salmi, Tytti Willberg, Elmo Saarentaus, Antti A. Aarnisalo, Elisa Rahikkala, Kristiina Aittomäki, Fredrik Åberg, Mitja Kurki, Aki S. Havulinna, Juha Mehtonen, Priit Palta, Shabbeer Hassan, Pietro Della Briotta Parolo, Wei Zhou, Mutaamba Maasha, Susanna Lemmelä, Aoxing Liu, Arto Lehistö, Andrea Ganna, Vincent Llorens, Henrike Heyne, Joel Rämö, Rodos Rodosthenous, Satu Strausz, Tuula Palotie, Kimmo Palin, Javier Gracia‐Tabuenca, Harri Siirtola, Tuomo Kiiskinen, Jiwoo Lee, Kristin Tsuo, Kati Kristiansson, Kati Hyvärinen, Jarmo Ritari, Katri Pylkäs, Minna K. Karjalainen, Tuomo Mantere, Eeva Kangasniemi, Sami Heikkinen, Nina Pitkänen, Samuel Lessard, Clément Chatelain, Perttu Terho, Tiina Wahlfors, Eero Punkka, Sanna Siltanen, Teijo Kuopio, Anu Jalanko, Huei-Yi Shen, Risto Kajanne, Mervi Aavikko, Henna Palin, Malla-Maria Linna, Masahiro Kanai, Zhili Zheng, L. Elisa Lahtela, Mari Kaunisto, Elina Kilpeläinen, Timo P. Sipilä, Oluwaseun Alexander Dada, Awaisa Ghazal, Anastasia Kytölä, Rigbe Weldatsadik,

Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated ...

Nature Portfolio

Artigo

Max Tamlander, Nina Mars, Matti Pirinen, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard J. Jacob, Dirk S. Paul, Heiko Runz, Sally John, Robert M. Plenge, Joseph Maranville, George Okafo, Nathan Lawless, Heli Salminen‐Mankonen, Mark I. McCarthy, Julie Hunkapiller, Meg Ehm, Kirsi Auro, Simonne Longerich, Caroline S. Fox, Anders Mälarstig, Katherine Klinger, Deepak Raipal, Eric Green, Robert Graham, Robert Yang, Chris O’Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Juhani Junttila, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Arto Mannermaa, Jari Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey Waring, Ioanna Tachmazidou, Chia-Yen Chen, Shameek Biswas, Zhihao Ding, Marc Jung, Rion Pendergrass, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Xinli Hu, Sahar V. Mozaffari, Dawn Waterworth, Nicole Renaud, Ma ́en Obeidat, Samuli Ripatti, Johanna Schleutker, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Katriina Aalto‐Setälä, Mika Kähönen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Pentti J. Tienari, Juha O. Rinne, Roosa Kallionpää, Ali Abbasi, Adam Ziemann, Sahar Esmaeeli, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Sanni Lahdenperä, Janet van Adelsberg, Natalie Bowers, Edmond Teng, Sarah A. Pendergrass, Onuralp Söylemez, Kari Linden, Fanli Xu, Laura Addis, John D. Eicher, Minna Raivio, Beryl B. Cummings, Juulia Partanen, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Graham Heap, Fedik Rahimov, Keith Usiskin, Tim Lu, Danny Oh, Kirsi Kalpala, Melissa R. Miller, Linda McCarthy, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Apinya Lertratanakul, David A. Close, Marla Hochfeld, Nan Bing, Jorge Esparza Gordillo, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Alex Mackay, Glenda Lassi, Steven M. Greenberg, Hubert Chen, Joanna Betts, Soumitra Ghosh, Rajashree Mishra, Sina Rüeger, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Markus Juonala, Kaj Metsärinne, Mika Kähönen, Juhani Junttila, Markku Laakso, Jussi Pihlajamäki, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Jari Laukkanen, Benjamin Challis, Jaakko Parkkinen, Russell Miller, Audrey Y. Chu, Amanda Elliott, Joel Rämö, Mary Pat Reeve, Sanni Ruotsalainen, Tuomo J Meretoja, Heikki Joensuu, Olli Carpén, Lauri A. Aaltonen, Johanna Mattson, Annika Auranen, Peeter Karihtala, Saila Kauppila, Päivi Auvinen, Klaus Elenius, Johanna Schleutker, Relja Popovic, Bridget Riley-Gillis, Jennifer L. Schutzman, Andrey Loboda, Aparna Chhibber, Heli Lehtonen, Stefan McDonough, Marika Crohns, Sauli Vuoti, Diptee Kulkarni, Esa Pitkänen, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Sanna Seitsonen, Hannu Uusitalo, Vesa Aaltonen, Hannele Uusitalo‐Järvinen, Marja Luodonpää, Nina Hautala, Mengzhen Liu, Stephanie Loomis, Erich C. Strauss, Hao Chen, Anna Podgornaia, Juha Karjalainen, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Ying Wu, David F. Choy, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Hannele Laivuori, Venla Kurra, Oskari Heikinheimo, Ilkka Kalliala, Laura Kotaniemi‐Talonen, Kari Nieminen, Päivi Polo, Kaarin Mäkikallio, Eeva Ekholm, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Marjo Tuppurainen, Katja Kivinen, Elisabeth Widén, Taru Tukiainen, Aoxing Liu, Eija K. Laakkonen, Niko Välimäki, Johannes Kettunen, Mikko Arvas, Janet Kumar, Andrea Ganna, J. Wade Davis, Danjuma Quarless, Slavé Petrovski, Eleonor Wigmore, Adele A. Mitchell, Benjamin B. Sun, Ellen Tsai, Denis Baird, Paola G. Bronson, Ruoyu Tian, Yunfeng Huang, Elmutaz Shaikho Elhaj Mohammed, Samir Wadhawan, Erika Kvikstad, Minal Çalışkan, Diana Chang, Tushar Bhangale, Kirill Shkura, Victor Neduva, Xing Chen, Åsa K. Hedman, Karen S. King, Padhraig Gormley, Jiang Liu, Clarence Wang, Ethan Xu, Franck Augé, Clément Chatelain, Deepak K. Rajpal, Dongyu Liu, Katherine M. Call, Tai-he Xia, Matt Brauer, Huilei Xu, Amy L. Cole, Jonathan Chung, Jaison Jacob, Katrina de Lange, Jonas Zierer, Mitja Kurki, Aki S. Havulinna, Juha Mehtonen, Priit Palta, Shabbeer Hassan, Pietro Della Briotta Parolo, Wei Zhou, Mutaamba Maasha, Susanna Lemmelä, Manuel A. Rivas, Arto Lehisto, Vincent Llorens, Mari Niemi, Henrike Heyne, Kimmo Palin, Javier Gracia‐Tabuenca,

Abstract Large-scale biobank initiatives and commercial repositories store genomic data collected from millions of individuals, and tools to leverage the rapidly growing pool of health and genomic data in disease prevention are needed. Here, we describe the derivation and validation of genomics-enhanced risk tools for two common cardiometabolic diseases, coronary heart disease and type 2 diabetes. Data used for our analyses include the FinnGen study (N = 309,154) and the UK Biobank project (N = 343,672). ...

Nature Portfolio

Revisão

Sanni Ruotsalainen, Ida Surakka, Nina Mars, Juha Karjalainen, Mitja Kurki, Masahiro Kanai, Kristi Krebs, Sarah E. Graham, Pashupati P. Mishra, Binisha H. Mishra, Juha Sinisalo, Priit Palta, Terho Lehtimäki, Olli T. Raitakari, Tõnu Esko, Andres Metspalu, Reedik Mägi, Mari Nelis, Lili Milani, Koichi Matsuda, Yuji Yamanashi, Yoichi Furukawa, Takayuki Morisaki, Yoshinori Murakami, Yoichiro Kamatani, Kaori Muto, Akiko Nagai, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Sinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune, Yukinori Okada, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard Jacob, Dirk S. Paul, Heiko Runz, Sally John, Robert M. Plenge, Mark I. McCarthy, Julie Hunkapiller, Meg Ehm, Kirsi Auro, Caroline S. Fox, Anders Mälarstig, K. Klinger, Deepak Raipal, Timothy E.J. Behrens, Robert Yang, Richard W. Siegel, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Juhani Junttila, Raisa Serpi, Tarja Laitinen, Johanna Mäkelä, Veli‐Matti Kosma, Urho M. Kujala, Outi Tuovila, Raimo Pakkanen, Jeffrey F. Waring, Ali Abbasi, Mengzhen Liu, Ioanna Tachmazidou, Chia‐Yen Chen, Shameek Biswas, Neha Raghavan, Adriana Huertas‐Vázquez, Xinli Hu, Matthias Gossel, Robert Graham, Beryl B. Cummings, Wilco Fleuren, Dawn Waterworth, Nicole Renaud, Ma ́en Obeidat, Samuli Ripatti, Johanna Schleutker, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Graham J. Mann, Jari A. Laukkanen, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Pentti Tienari, Juha O. Rinne, Roosa Kallionpää, Adam Ziemann, Sahar Esmaeeli, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Sanni Lahdenperä, Janet van Adelsberg, Natalie Bowers, Edmond Teng, Sarah A. Pendergrass, Onuralp Söylemez, Kari Linden, Fanli Xu, David Pulford, Laura Addis, John D. Eicher, Minna Raivio, Juulia Partanen, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Graham Heap, Fedik Rahimov, Keith Usiskin, Tim Lu, Danny Oh, Kirsi Kalpala, Melissa R. Miller, Linda McCarthy, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Apinya Lertratanakul, David A. Close, Marla Hochfeld, Nan Bing, Jorge Esparza Gordillo, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Alex Mackay, Glenda Lassi, Steven M. Greenberg, Hubert Chen, Joanna Betts, Soumitra Ghosh, Rajashree Mishra, Sina Rüeger, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Markus Juonala, Kaj Metsärinne, Mika Kähönen, Juhani Junttila, Markku Laakso, Jussi Pihlajamäki, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Jari A. Laukkanen, Benjamin Challis, Jaakko Parkkinen, Russell Miller, Audrey Y. Chu, Amanda Elliott, Joel Rämö, Mary Pat Reeve, Sanni Ruotsalainen, Tuomo J Meretoja, Heikki Joensuu, Olli Carpén, Lauri A. Aaltonen, Johanna Mattson, Annika Auranen, Peeter Karihtala, Saila Kauppila, Päivi Auvinen, Klaus Elenius, Johanna Schleutker, Relja Popovic, Bridget Riley‐Gillis, Jennifer L. Schutzman, Andrey Loboda, Aparna Chhibber, Heli Lehtonen, Stefan McDonough, Marika Crohns, Sauli Vuoti, Diptee Kulkarni, Esa Pitkänen, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Sanna Seitsonen, Hannu Uusitalo, Vesa Aaltonen, Hannele Uusitalo‐Järvinen, Marja Luodonpää, Nina Hautala, Stephanie Loomis, Erich C. Strauss, Hao Chen, Anna Podgornaia, Juha Karjalainen, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Ying Wu, David F. Choy, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Hannele Laivuori, Venla Kurra, Oskari Heikinheimo, Ilkka Kalliala, Laura Kotaniemi‐Talonen, Kari Nieminen, Päivi Polo, Kaarin Mäkikallio, Eeva Ekholm, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Marjo Tuppurainen, Katja Kivinen, Taru Tukiainen, Aoxing Liu, Eija K. Laakkonen, Niko Välimäki, Johannes Kettunen, Mikko Arvas, Janet Kumar, Andrea Ganna, J. Wade Davis, Danjuma Quarless, Slavé Petrovski, Eleonor Wigmore, Adele A. Mitchell, Benjamin B. Sun, Ellen Tsai, Denis Baird, Paola G. Bronson, Ruoyu Tian, Yunfeng Huang, Joseph Maranville, Elmutaz Shaikho Elhaj Mohammed, Samir Wadhawan, Erika Kvikstad, Minal Çalışkan, Diana Chang, Tushar Bhangale, Kirill Shkura, Victor Neduva, Xing Chen, Åsa K. Hedman, Karen S. King, Padhraig Gormley, Jimmy Z. Liu,

Cardiovascular diseases are the leading cause of premature death and disability worldwide, with both genetic and environmental determinants. While genome-wide association studies have identified multiple genetic loci associated with cardiovascular diseases, exact genes driving these associations remain mostly uncovered. Due to Finland's population history, many deleterious and high-impact variants are enriched in the Finnish population giving a possibility to find genetic associations for protein- ...

Nature Portfolio

Artigo

Eliza C. Miller, Anni Kauko, Sarah E. Tom, Hannele Laivuori, Teemu Niiranen, Natalie A. Bello, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard J. Jacob, Dirk S. Paul, Athena Matakidou, Adam Platt, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Heli Salminen‐Mankonen, Robert Plenge, Joseph Maranville, Mark I. McCarthy, Julie Hunkapiller, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Caroline S. Fox, Anders Mälarstig, K. Klinger, Deepak Raipal, Eric Green, Robert Graham, Robert Yang, Chris O ́Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Taneli Raivio, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari A. Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey F. Waring, Bridget Riley‐Gillis, Fedik Rahimov, Ioanna Tachmazidou, Chia-Yen Chen, Heiko Runz, Zhihao Ding, Marc Jung, Shameek Biswas, Rion Pendergrass, Julie Hunkapiller, Margaret G. Ehm, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Anders Mälarstig, Xinli Hu, K. Klinger, Robert Graham, Eric Green, Sahar V. Mozaffari, Dawn Waterworth, Nicole Renaud, Ma ́en Obeidat, Samuli Ripatti, Johanna Schleutker, Markus Perola, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Graham J. Mann, Katriina Aalto‐Setälä, Mika Kähönen, Jari A. Laukkanen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti J. Tienari, Juha O. Rinne, Roosa Kallionpää, Juulia Partanen, Ali Abbasi, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Heiko Runz, Sanni Lahdenperä, Shameek Biswas, Julie Hunkapiller, Natalie Bowers, Edmond Teng, Rion Pendergrass, Fanli Xu, David Pulford, Kirsi Auro, Laura Addis, John D. Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Neha Raghavan, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Mark J. Daly, Ali Abbasi, Jeffrey F. Waring, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, Tim Lu, Natalie Bowers, Rion Pendergrass, Linda McCarthy, Amy Hart, Meijian Guan, Jason Miller, Kirsi Kalpala, Melissa R. Miller, Xinli Hu, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Ali Abbasi, Jeffrey F. Waring, Fedik Rahimov, Apinya Lertratanakul, Nizar Smaoui, Anne Lehtonen, Marla Hochfeld, Natalie Bowers, Rion Pendergrass, Jorge Esparza Gordillo, Kirsi Auro, Dawn Waterworth, Fabiana H.G. Farias, Kirsi Kalpala, Nan Bing, Xinli Hu, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Nizar Smaoui, Glenda Lassi, Susan Eaton, Hubert Chen, Rion Pendergrass, Natalie Bowers, Joanna Betts, Kirsi Auro, Rajashree Mishra, Majd Mouded, Debby Ngo, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Mika Kähönen, Jussi Hernesniemi, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Timo P. Hiltunen, Jari A. Laukkanen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Benjamin Challis, Dirk S. Paul, Julie Hunkapiller, Natalie Bowers, Rion Pendergrass, Audrey Y. Chu, Kirsi Auro, Dermot F. Reilly, Mike Mendelson, Jaakko Parkkinen, Melissa R. Miller, Tuomo J Meretoja, Heikki Joensuu, Olli Carpén, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen Klaus Elenius, Johanna Schleutker, Esa Pitkänen, Nina Mars, Mark J. Daly, Relja Popovic, Jeffrey F. Waring, Bridget Riley‐Gillis, Anne Lehtonen, Jennifer L. Schutzman, Julie Hunkapiller, Natalie Bowers, Rion Pendergrass, Diptee Kulkarni, Kirsi Auro, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, S. Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Esa Pitkänen, Mengzhen Liu, Heiko Runz, Stephanie Loomis, Erich C. Strauss, Natalie Bowers, Hao Chen, Rion Pendergrass, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, David F. Choy, Rion Pendergrass, Dawn Waterworth, Kirsi Kalpala, Ying Wu, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Rion Pendergrass, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri A. Aaltonen, Varpu Jokimaa, Johannes Kettunen, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Katja Kivinen, Elisabeth Widén, Taru Tukiainen, Mary Pat Reeve, Mark Daly, Niko Välimäki, Eija K. Laakkonen, Jaakko Tyrmi, Heidi Silven,

BACKGROUND: Adverse pregnancy outcomes (APO) contribute to higher risk of maternal cerebrovascular disease, but longitudinal data that include APO and stroke timing are lacking. We hypothesized that APO are associated with younger age at first stroke, with a stronger relationship in those with >1 pregnancy with APO. METHODS: We analyzed longitudinal Finnish nationwide health registry data from the FinnGen Study. We included women who gave birth after 1969 when the hospital discharge registry was established. ...

Lippincott Williams & Wilkins

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Céline Bellenguez, Fahri Küçükali, Iris E. Jansen, Luca Kleineidam, Sonia Moreno‐Grau, Najaf Amin, Adam C. Naj, Rafael Campos‐Martin, Benjamin Grenier‐Boley, Víctor Andrade, Peter Holmans, Anne Boland, Vincent Damotte, Sven J. van der Lee, Marcos R. Costa, Teemu Kuulasmaa, Qiong Yang, Itziar de Rojas, Joshua C. Bis, Amber Yaqub, Ivana Nedeljković, Julien Chapuis, Shahzad Ahmad, Vilmantas Giedraitis, Dag Aarsland, Pablo García‐González, Carla Abdelnour, Emilio Alarcón‐Martín, Daniel Alcolea, Montserrat Alegret, Ignacio Álvarez, Victoria Álvarez, Nicola J. Armstrong, Anthoula Tsolaki, Carmen Antúnez, Ildebrando Appollonio, Marina Arcaro, Silvana Archetti, Alfonso Arias Pastor, Beatrice Arosio, Lavinia Athanasiu, Henri Bailly, Nerisa Banaj, Miquel Baquero, Sandra Barral, Alexa Beiser, Ana Belén Pastor, Jennifer E. Below, Penelope Benchek, Luisa Benussi, Claudine Berr, Céline Besse, Valentina Bessi, Giuliano Binetti, Alessandra Bizarro, Rafael Blesa, Merçé Boada, Eric Boerwinkle, Barbara Borroni, Silvia Boschi, Paola Bossù, Geir Bråthen, Jan Bressler, Catherine Bresner, Henry Brodaty, Keeley J. Brookes, Luis I. Brusco, Dolores Buiza‐Rueda, Katharina Bürger, Vanessa Burholt, William S. Bush, Miguel Calero, Laura B. Cantwell, Geneviève Chêne, Jaeyoon Chung, Michael L. Cuccaro, Ángel Carracedo, Roberta Cecchetti, Laura Cervera‐Carles, Camille Charbonnier, Hung‐Hsin Chen, Caterina Chillotti, Simona Ciccone, Jurgen A.H.R. Claassen, Christopher Clark, Elisa Conti, Anaïs Corma‐Gómez, Emanuele Maria Costantini, Carlo Custodero, Delphine Daian, Carolina Dalmasso, Antonio Daniele, Efthimios Dardiotis, Jean‐François Dartigues, Peter Paul De Deyn, Kátia de Paiva Lopes, Lot D. de Witte, Stéphanie Debette, Jürgen Deckert, Teodoro del Ser, Nicola Denning, Anita L. DeStefano, Martin Dichgans, Janine Diehl‐Schmid, Mónica Díez-Fairén, Paolo Rossi, Srdjan Djurovic, Emmanuelle Duron, Emrah Düzel, Carole Dufouil, Gudny Eiriksdottir, Sebastiaan Engelborghs, Valentina Escott‐Price, Ana Espinosa, Michael Ewers, Kelley M. Faber, Fabrizio Tagliavini, Yan V. Sun, David W. Fardo, Lucia Farotti, Chiara Fenoglio, Marta Fernández‐Fuertes, Raffaele Ferrari, Catarina B. Ferreira, Evelyn Ferri, Bertrand Fin, Peter Fischer, Tormod Fladby, Klaus Fließbach, Bernard Fongang, Myriam Fornage, Juan Fortea, Tatiana M. Foroud, Silvia Fostinelli, Nick C. Fox, Emlio Franco-Macías, María J. Bullido, Ana Frank, Lutz Froelich, Brian Fulton‐Howard, Daniela Galimberti, José María García‐Alberca, Pablo García‐González, Sebastián García‐Madrona, Guillermo García‐Ribas, Roberta Ghidoni, Ina Giegling, Giaccone Giorgio, Alison Goate, Oliver Goldhardt, Duber Gomez-Fonseca, Antonio González‐Pérez, Caroline Graff, Giulia Grande, Emma Green, Timo Grimmer, Edna Grünblatt, Michelle Grunin, Vilmundur Guðnason, Tamar Guetta-Baranés, Annakaisa Haapasalo, Georgios M. Hadjigeorgiou, Jonathan L. Haines, Kara L. Hamilton‐Nelson, Harald Hampel, Olivier Hanon, John Hardy, Annette M. Hartmann, Lucrezia Hausner, Janet Harwood, Stefanie Heilmann‐Heimbach, Seppo Helisalmi, Michael T. Heneka, Isabel Hernández, Martin J. Herrmann, Per Hoffmann, Clive Holmes, Henne Holstege, Raquel Huerto Vilas, Marc Hulsman, Jack Humphrey, Geert Jan Biessels, Xueqiu Jian, Charlotte Johansson, Gyungah Jun, Yuriko Kastumata, John Kauwe, Patrick G. Kehoe, Lena Kilander, Anne Kinhult Ståhlbom, Miia Kivipelto, Anne Koivisto, Johannes Kornhuber, Mary H. Kosmidis, Walter A. Kukull, Pavel P. Kuksa, Brian W. Kunkle, Amanda Kuzma, Carmen Lage, Erika J. Laukka, Lenore J. Launer, Alessandra Lauria, Chien‐Yueh Lee, Jenni Lehtisalo, Ondřej Lerch, Alberto Lleó, W.T. Longstreth, Oscar L. López, Adolfo López de Munain, Seth Love, Malin Löwemark, Lauren Luckcuck, Kathryn L. Lunetta, Yiyi Ma, Juan Macías, Catherine Macleod, Wolfgang Maier, Francesca Mangialasche, Marco Spallazzi, Marta Marquié, Iain Marshall, Eden R. Martin, Ángel Martín Montes, Carmen Martínez Rodríguez, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Miguel Medina, Alun Meggy, Shima Mehrabian, Silvia Mendoza, Manuel Menéndez‐González, Pablo Mir, Susanne Moebus, Merel O. Mol, Laura Molina‐Porcel, Laura Montrreal, Laura Morelli, Fermín Moreno, Kevin Morgan, Sonia Thomas, Markus M. Nöthen, Carolina Muchnik, Shubhabrata Mukherjee, Benedetta Nacmias, Tiia Ngandu, Gaël Nicolas, Børge G. Nordestgaard, Robert Olaso, Adelina Orellana, Michela Orsini, Gemma Ortega, Alessandro Padovani, Paolo Caffarra, Goran Papenberg, Lucilla Parnetti, Florence Pasquier, Pau Pástor, Gina M. Peloso, Alba Pérez‐Cordón, Jordi Pérez‐Tur, Pierre Péricard, Oliver Peters, Yolande A.L. Pijnenburg, Juan A. Pineda, Gerard Piñol-Ripoll, Claudia Pisanu, Thomas Polak, Julius Popp, Daniëlle Posthuma, Josef Priller, Raquel Puerta, Olivier Quenez, Inés Quintela, Jesper Qvist Thomassen, Alberto Rábano, Innocenzo Rainero, Farid Rajabli, Inez Ramakers, Luís Miguel Real, Marcel J. T. Reinders, Christiane Reitz, Dolly Reyes‐Dumeyer, Perry Ridge, Steffi G. Riedel‐Heller, Peter Riederer, Natalia Roberto, Eloy Rodríguez‐Rodríguez, Arvid Rongve, Irene Rosas Allende, Maitée Rosende-Roca, José Luís Royo, Elisa Rubino, Dan Rujescu, María Eugenia Sáez,

Abstract Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted ...

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Nina Mars, Sini Kerminen, Max Tamlander, Matti Pirinen, Eveliina Jakkula, Kirsimari Aaltonen, Tuomo J Meretoja, Sirpa Heinävaara, Elisabeth Widén, Samuli Ripatti, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard Jacob, Dirk S. Paul, Athena Matakidou, Adam Platt, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Robert M. Plenge, Joseph Maranville, Mark I. McCarthy, Julie Hunkapiller, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Caroline S. Fox, Anders Mälarstig, K. Klinger, Deepak Raipal, Eric Green, Robert Graham, Robert Yang, Chris O’Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Juhani Junttila, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari A. Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey F. Waring, Bridget Riley‐Gillis, Fedik Rahimov, Ioanna Tachmazidou, Chia‐Yen Chen, Heiko Runz, Zhihao Ding, Marc Jung, Shameek Biswas, Rion Pendergrass, Julie Hunkapiller, Margaret G. Ehm, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Anders Mälarstig, Xinli Hu, K. Klinger, Robert Graham, Eric Green, Sahar V. Mozaffari, Dawn Waterworth, Nicole Renaud, Ma’en Obeidat, Samuli Ripatti, Johanna Schleutker, Markus Perola, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Graham J. Mann, Katriina Aalto‐Setälä, Mika Kähönen, Jari A. Laukkanen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha O. Rinne, Roosa Kallionpää, Juulia Partanen, Ali Abbasi, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Heiko Runz, Sanni Lahdenperä, Shameek Biswas, Julie Hunkapiller, Natalie Bowers, Edmond Teng, Rion Pendergrass, Fanli Xu, David Pulford, Kirsi Auro, Laura Addis, John D. Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Neha Raghavan, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Mark J. Daly, Ali Abbasi, Jeffrey F. Waring, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, Tim Lu, Natalie Bowers, Rion Pendergrass, Linda McCarthy, Amy Hart, Meijian Guan, Jason E. Miller, Kirsi Kalpala, Melissa R. Miller, Xinli Hu, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Ali Abbasi, Jeffrey F. Waring, Fedik Rahimov, Apinya Lertratanakul, Nizar Smaoui, Anne Lehtonen, David A. Close, Marla Hochfeld, Natalie Bowers, Rion Pendergrass, Jorge Esparza Gordillo, Kirsi Auro, Dawn Waterworth, Fabiana H.G. Farias, Kirsi Kalpala, Nan Bing, Xinli Hu, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Nizar Smaoui, Alex Mackay, Glenda Lassi, Susan Eaton, Hubert Chen, Rion Pendergrass, Natalie Bowers, Joanna Betts, Kirsi Auro, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Mika Kähönen, Jussi Hernesniemi, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Timo P. Hiltunen, Jari A. Laukkanen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Benjamin Challis, Dirk S. Paul, Julie Hunkapiller, Natalie Bowers, Rion Pendergrass, Audrey Y. Chu, Kirsi Auro, Dermot F. Reilly, Mike Mendelson, Jaakko Parkkinen, Melissa R. Miller, Tuomo J Meretoja, Heikki Joensuu, Olli Carpén, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Johanna Schleutker, Esa Pitkänen, Nina Mars, Mark J. Daly, Relja Popovic, Jeffrey F. Waring, Bridget Riley‐Gillis, Anne Lehtonen, Jennifer L. Schutzman, Julie Hunkapiller, Natalie Bowers, Rion Pendergrass, Diptee Kulkarni, Kirsi Auro, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, Sauli Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Esa Pitkänen, Mengzhen Liu, Heiko Runz, Stephanie Loomis, Erich C. Strauss, Natalie Bowers, Hao Chen, Rion Pendergrass, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, David F. Choy, Rion Pendergrass, Dawn Waterworth, Kirsi Kalpala, Ying Wu, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Rion Pendergrass, Hannele Laivuori, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri A. Aaltonen, Varpu Jokimaa, Johannes Kettunen, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Katja Kivinen,

PURPOSE Family history (FH) and pathogenic variants (PVs) are used for guiding risk surveillance in selected high-risk women but little is known about their impact for breast cancer screening on population level. In addition, polygenic risk scores (PRSs) have been shown to efficiently stratify breast cancer risk through combining information about common genetic factors into one measure. METHODS In longitudinal real-life data, we evaluate PRS, FH, and PVs for stratified screening. Using FinnGen (N = 117, ...

Lippincott Williams & Wilkins

Artigo

Pradeep Natarajan, Akhil Pampana, Sarah E. Graham, Sanni Ruotsalainen, James A. Perry, Paul S. de Vries, Jai Broome, James P. Pirruccello, Michael C. Honigberg, Krishna G. Aragam, Brooke N. Wolford, Jennifer A. Brody, Lucinda Antonacci-Fulton, Arden Moscati, Stella Aslibekyan, Themistocles L. Assimes, Christie M. Ballantyne, Lawrence F. Bielak, Joshua C. Bis, Brian E. Cade, Ron Do, HarshaVardhan Doddapaneni, Leslie Emery, Yi‐Jen Hung, Marguerite R. Irvin, Alyna Khan, Leslie A. Lange, Jiwon Lee, Rozenn N. Lemaître, Lisa W. Martin, Ginger Metcalf, May E. Montasser, Jee‐Young Moon, Donna M. Muzny, Jeffrey R. O’Connell, Nicholette D. Palmer, Juan M. Peralta, Patricia A. Peyser, Adrienne M. Stilp, Michael Y. Tsai, Fei Fei Wang, Daniel E. Weeks, Lisa R. Yanek, James G. Wilson, Gonçalo R. Abecasis, Donna K. Arnett, Lewis C. Becker, John Blangero, Eric Boerwinkle, Donald W. Bowden, Yi–Cheng Chang, Yii‐Der I. Chen, Won Jung Choi, Adolfo Correa, Joanne E. Curran, Mark J. Daly, Susan K. Dutcher, Patrick T. Ellinor, Myriam Fornage, Barry I. Freedman, Stacey Gabriel, Søren Germer, Richard A. Gibbs, Jiang He, Kristian Hveem, Gail P. Jarvik, Robert C. Kaplan, Sharon L. R. Kardia, Eimear E. Kenny, Ryan W. Kim, Charles Kooperberg, Cathy C. Laurie, Seonwook Lee, Donald M. Lloyd‐Jones, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Karine A. Viaud Martinez, Stephen T. McGarvey, Braxton D. Mitchell, Deborah A. Nickerson, Kari E. North, Aarno Palotie, Cheol Joo Park, Bruce M. Psaty, D. C. Rao, Susan Redline, Alexander P. Reiner, Daekwan Seo, Jeong‐Sun Seo, Albert V. Smith, Russell P. Tracy, Ramachandran S. Vasan, Sekar Kathiresan, L. Adrienne Cupples, Jerome I. Rotter, Alanna C. Morrison, Stephen S. Rich, Samuli Ripatti, Cristen J. Willer, Namiko Abe, Christine M. Albert, Laura Almasy, Álvaro Alonso, Seth A. Ament, Peter Anderson, Pramod Anugu, Deborah Applebaum‐Bowden, Dan E. Arking, Allison E. Ashley‐Koch, Paul L. Auer, Dimitrios Avramopoulos, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Terri H. Beaty, Diane M. Becker, Rebecca Beer, Ferdouse Begum, Amber L. Beitelshees, Emelia J. Benjamin, Marcos Bezerra, Larry Bielak, Thomas W. Blackwell, Russell P. Bowler, Ulrich Broeckel, Karen Bunting, Esteban G. Burchard, Erin Buth, Jonathan Cardwell, Cara L. Carty, Richard Casaburi, James F. Casella, Mark Chaffin, Christy Chang, Daniel I. Chasman, Sameer Chavan, Bo‐Juen Chen, Wei‐Min Chen, Michael Cho, Seung Hoan Choi, Lee‐Ming Chuang, Mina K. Chung, Matthew P. Conomos, Elaine Cornell, Carolyn Crandall, James D. Crapo, Jeffrey L. Curtis, Brian Custer, Coleen Damcott, Dawood Darbar, Sayantan Das, Sean P. David, Colleen Davis, Michelle Daya, Mariza de Andrade, Michael R. DeBaun, Ranjan Deka, Dawn L. DeMeo, Scott E. Devine, Qing Duan, Ravi Duggirala, Jon Peter Durda, Susan K. Dutcher, Charles B. Eaton, Lynette Ekunwe, Charles R. Farber, Leanna Farnam, Tasha E. Fingerlin, Matthew Flickinger, Nora Franceschini, Mao Fu, Stephanie M. Fullerton, Lucinda Fulton, Weiniu Gan, Yan Gao, Margery Gass, Bruce D. Gelb, Xiaoqi Geng, Chris Gignoux, Mark T. Gladwin, David C. Glahn, Stephanie M. Gogarten, Da‐Wei Gong, Harald H.H. Göring, C. Charles Gu, Yue Guan, Xiuqing Guo, Jeff Haessler, Michael E. Hall, Daniel Harris, Nicola L. Hawley, Ben Heavner, Susan R. Heckbert, Ryan D. Hernandez, David M. Herrington, Craig P. Hersh, Bertha Hidalgo, James E. Hixson, John E. Hokanson, Elliott Hong, Karin F. Hoth, Chao A. Hsiung, Haley Huston, Chii Min Hwu, Rebecca D. Jackson, Deepti Jain, Cashell E. Jaquish, Min A. Jhun, Jill M. Johnsen, Andrew D. Johnson, Craig Johnson, Rich Johnston, Kimberly Jones, Hyun Min Kang, Laura J. Kaufman, Shannon Kelly, Michael D. Kessler, Gregory L. Kinney, Barbara A. Konkle, Holly Kramer, Stephanie Krauter, Christoph Lange, Ethan M. Lange, Cecelia Laurie, Meryl S. LeBoff, Seunggeun Shawn Lee, Wen‐Jane Lee, Jonathon LeFaive, David Levine, Daniel Levy, Joshua P. Lewis, Yun Li, Honghuang Lin, Keng Han Lin, Xihong Lin, Simin Liu, Yongmei Liu, Kathryn L. Lunetta, James Luo, Michael C. Mahaney, Barry J. Make, Ani Manichaikul, JoAnn E. Manson, Lauren Margolin, Susan K. Mathai, Patrick F. McArdle, Merry‐Lynn McDonald, Sean McFarland, Caitlin McHugh, Hao Mei, Deborah A. Meyers, Julie Mikulla, Yuan‐I Min, Mollie Minear, Ryan L. Minster, Solomon K. Musani, Stanford Mwasongwe, Josyf C. Mychaleckyj, Girish N. Nadkarni, Rakhi P. Naik, Take Naseri, Sergeï Nekhai, Sarah C. Nelson, Deborah A. Nickerson, Jeff O’Connell, Tim O’Connor, Heather M. Ochs‐Balcom, James S. Pankow, George Papanicolaou, Margaret M. Parker, Afshin Parsa, Sara Penchev, Marco Perez, Ulrike Peters, Lawrence S. Phillips, Sam Phillips, Toni I. Pollin, Wendy S. Post, Julia Powers Becker, Meher Preethi Boorgula, Michael Preuß, Dmitry Prokopenko, Pankaj Qasba, Dandi Qiao, Zhaohui Qin, Nicholas Rafaels, Laura M. Raffield, Laura J. Rasmussen‐Torvik, Aakrosh Ratan, Robert M. Reed, Elizabeth A. Regan, Muagututi‘a Sefuiva Reupena, Kenneth Rice, Dan M. Roden,

Abstract Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, ...

Nature Portfolio

Artigo

Samuel E. Jones, Fahrisa I. Maisha, Satu Strausz, Vilma Lammi, Brian E. Cade, Anniina Tervi, Viola Helaakoski, Martin Broberg, Aarno Palotie, Mark Daly, Bridget Riley-Gills, Howard Jacob, Dirk S. Paul, Slavé Petrovski, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Heli Salminen‐Mankonen, Robert Plenge, Joseph Maranville, Mark I. McCarthy, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Anders Mälarstig, Katherine Klinger, Clément Chatelain, Matthias Gossel, Karol Estrada, Robert Graham, Robert Yang, Chris O ́Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Taneli Raivio, Jani T. Tikkanen, Raisa Serpi, Tarja Laitinen, Veli-Matti Kosma, Jari Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey Waring, Bridget Riley-Gillis, Fedik Rahimov, Ioanna Tachmazidou, Chia-Yen Chen, Heiko Runz, Zhihao Ding, Marc Jung, Shameek Biswas, Rion Pendergrass, Margaret G. Ehm, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Anders Mälarstig, Xinli Hu, Åsa K. Hedman, Katherine Klinger, Robert Graham, Manuel Rivas, Dawn Waterworth, Nicole Renaud, Ma ́en Obeidat, Samuli Ripatti, Johanna Schleutker, Markus Perola, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Arto Mannermaa, Katriina Aalto‐Setälä, Mika Kähönen, Jari Laukkanen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha O. Rinne, Roosa Kallionpää, Juulia Partanen, Ali Abbasi, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Heiko Runz, Sanni Lahdenperä, Shameek Biswas, Natalie Bowers, Edmond Teng, Rion Pendergrass, Fanli Xu, David Pulford, Kirsi Auro, Laura Addis, John D. Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Neha Raghavan, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Mark Daly, Ali Abbasi, Jeffrey Waring, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, Tim Lu, Natalie Bowers, Rion Pendergrass, Linda McCarthy, Amy Hart, Meijian Guan, Jason Miller, Kirsi Kalpala, Melissa Miller, Xinli Hu, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Ali Abbasi, Jeffrey Waring, Fedik Rahimov, Apinya Lertratanakul, Nizar Smaoui, Anne Lehtonen, Coralie Viollet, Marla Hochfeld, Natalie Bowers, Rion Pendergrass, Jorge Esparza Gordillo, Kirsi Auro, Dawn Waterworth, Fabiana H.G. Farias, Kirsi Kalpala, Nan Bing, Xinli Hu, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Nizar Smaoui, Coralie Viollet, Susan Eaton, Hubert Chen, Rion Pendergrass, Natalie Bowers, Joanna Betts, Kirsi Auro, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Mika Kähönen, Jussi Hernesniemi, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Timo P. Hiltunen, Jari Laukkanen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Dirk S. Paul, Natalie Bowers, Rion Pendergrass, Audrey Y. Chu, Kirsi Auro, Dermot F. Reilly, Mike Mendelson, Jaakko Parkkinen, Melissa Miller, Tuomo J Meretoja, Heikki Joensuu, Olli Carpén, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Johanna Schleutker, Esa Pitkänen, Nina Mars, Mark Daly, Relja Popovic, Jeffrey Waring, Bridget Riley-Gillis, Anne Lehtonen, Margarete A. Fabre, Jennifer L. Schutzman, Natalie Bowers, Rion Pendergrass, Diptee Kulkarni, Kirsi Auro, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, S. Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Esa Pitkänen, Mengzhen Liu, Heiko Runz, Stephanie Loomis, Erich C. Strauss, Natalie Bowers, Hao Chen, Rion Pendergrass, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, David F. Choy, Rion Pendergrass, Dawn Waterworth, Kirsi Kalpala, Ying Wu, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Rion Pendergrass, Hannele Laivuori, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri A. Aaltonen, Varpu Jokimaa, Johannes Kettunen, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Katja Kivinen, Elisabeth Widén, Taru Tukiainen, Mary Pat Reeve, Mark Daly, Niko Välimäki, Eija Laakkonen, Jaakko Tyrmi,

BackgroundPoor sleep is associated with an increased risk of infections and all-cause mortality but the causal direction between poor sleep and respiratory infections has remained unclear. We examined if poor sleep contributes as a causal risk factor to respiratory infections.MethodsWe used data on insomnia, influenza and upper respiratory infections (URIs) from primary care and hospital records in the UK Biobank (N ≈ 231,000) and FinnGen (N ≈ 392,000). We computed logistic regression to assess association ...

Elsevier BV

Artigo Acesso aberto Revisado por pares

Miriana Scordino, Polina Stepanova, Vignesh Srinivasan, Dan Duc Pham, Ove Eriksson, Maciej Łałowski, Giuseppa Mudò, Valentina Di Liberto, Laura Korhonen, Merja H. Voutilainen, Dan Lindholm,

Canopy Homolog 2 (CNPY2) is an endoplasmic reticulum (ER) localized protein belonging to the CNPY gene family. We show here that CNPY2 is protective against ER stress induced by tunicamycin in neuronal cells. Overexpression of CNPY2 enhanced, while downregulation of CNPY2 using shRNA expression, reduced the viability of neuroblastoma cells after tunicamycin. Likewise, recombinant CNPY2 increased survival of cortical neurons in culture after ER stress. CNPY2 reduced the activating transcription factor ...

Tópico(s): Mitochondrial Function and Pathology

2024 - Frontiers Media | Frontiers in Molecular Neuroscience

Artigo Acesso aberto Revisado por pares

Nina Mars, Elisabeth Widén, Sini Kerminen, Tuomo J Meretoja, Matti Pirinen, Pietro Della Briotta Parolo, Priit Palta, Aki Havulinna, Amanda Elliott, Anastasia Shcherban, Andrea Ganna, Anu Jalanko, Arto Lehisto, Elina Kilpeläinen, Georg Brein, Awaisa Ghazal, Hannele Laivuori, Henrike Heyne, Jarmo Harju, Jiwoo Lee, Juha Karjalainen, Jukka Koskela, Kalle Pärn, Kati Donner, Kristin Tsuo, Manuel González Jiménez, Mari Kaunisto, Mari Niemi, Mary Pat Reeve, Mervi Aavikko, Mitja Kurki, Oluwaseun Alexander Dada, Pietro Della Briotta Parolo, Risto Kajanne, Sina Rüeger, Susanna Lemmelä, Taru Tukiainen, Jaakko Tuomilehto, Timo P. Sipilä, Tuomo Kiiskinen, Vincent Llorens, Adam Ziemann, Anne Lehtonen, Apinya Lertratanakul, Bob Georgantas, Bridget Riley‐Gillis, Danjuma Quarless, Fedik Rahimov, Howard Jacob, Jeffrey F. Waring, J. Wade Davis, Nizar Smaoui, Relja Popovic, Sahar Esmaeeli, Athena Matakidou, Ben Challis, David A. Close, Eleonor Wigmore, Slavé Petrovski, Chia‐Yen Chen, Ellen Tsai, Heiko Runz, Jimmy Z. Liu, Paola G. Bronson, Sally John, Sanni Lahdenperä, Stephanie Loomis, Susan Eaton, Yunfeng Huang, Erika Kvikstad, Minal Çalışkan, Samir Wadhawan, Elmutaz Shaikho Elhaj Mohammed, Janet van Adelsberg, Joseph Maranville, Marla Hochfeld, Robert Plenge, Shameek Biswas, Steven M. Greenberg, Andrew S. Peterson, David F. Choy, Diana Chang, Edmond Teng, Erich C. Strauss, Geoff Kerchner, Hao Chen, Hubert Chen, Jennifer L. Schutzman, John A. Michon, Julie Hunkapiller, Mark I. McCarthy, Natalie Bowers, Sarah A. Pendergrass, Tushar Bhangale, David Pulford, Dawn Waterworth, Diptee Kulkarni, Fanli Xu, Jo Betts, Jorge Esparza Gordillo, Joshua Hoffman, Karen S. King, Meg Ehm, Soumitra Ghosh, Patrick Loerch, Wilco Fleuren, Beryl B. Cummings, Matt Brauer, Robert Graham, Tim Behrens, Andrey Loboda, Anna Podgornaia, Aparna Chhibber, Audrey Y. Chu, Caroline S. Fox, Dorothée Diogo, Emily Holzinger, John D. Eicher, Padhraig Gormley, Vinay Mehta, Anders Mälarstig, Åsa K. Hedman, Catherine Marshall, Christopher D. Whelan, Heli Lehtonen, Jaakko Parkkinen, Kari Linden, Kirsi Kalpala, Melissa R. Miller, Nan Bing, Stefan McDonough, Xing Chen, Xinli Hu, Ying Wu, Anthony J. Muslin, Clarence Wang, Clément Chatelain, Deepak K. Rajpal, Dongyu Liu, Ethan Xu, Franck Augé, Katherine M. Call, Kathy Klinger, Marika Crohns, Matthias Gossel, Tai-he Xia, Minna Hendolin, Outi Tuovila, Outi Tuovila, Raimo Pakkanen, Antti Karlsson, Kari Pulkki, Lila Kallio, Petri Virolainen, Arto Mannermaa, Sami Heikkinen, Veli‐Matti Kosma, Eija K. Laakkonen, Jari Laukkanen, Teijo Kuopio, Urho M. Kujala, Eeva Kangasniemi, Johanna Mäkelä, Jarmo Ritari, Jukka Partanen, Kati Hyvärinen, Mikko Arvas, Anne Pitkäranta, Anu Loukola, Eero Punkka, Miika Koskinen, Olli Carpén, Aino Salminen, David Rice, Johanna Mattson, Joni A. Turunen, Juha Sinisalo, Katariina Hannula-Jouppi, Lauri A. Aaltonen, Marja‐Riitta Taskinen, Martti Färkkilâ, Dirk S. Paul, Pekka Nieminen, Pentti Tienari, Pirkko J. Pussinen, Sampsa Pikkarainen, Sanna Seitsonen, Terhi Ollila, Jaakko Tuomilehto, Tuula Salo, Ulla Palotie, Juha O. Rinne, Kaj Metsärinne, Klaus Elenius, Leena Koulu, Markku Voutilainen, Markus Juonala, Sirkku Peltonen, Ulvi Kahraman Gürsoy, Vesa Aaltonen, Johannes Kettunen, Katri Pylkäs, Marita Kalaoja, Miia Turpeinen, Minna K. Karjalainen, Raisa Serpi, Reetta Hinttala, Riitta Kaarteenaho, Seppo Vainio, Tuomo Mantere, Anne M. Remes, Juhani Junttila, Kaisa Tasanen, Kirsi Sipilä, Laura Huilaja, Marja Luodonpää, Nina Hautala, Peeter Karihtala, Saila Kauppila, Terttu Harju, Timo Blomster, Vuokko Anttonen, Hilkka Soininen, Ilkka T. Harvima, Jussi Pihlajamäki, Kai Kaarniranta, Liisa Suominen, Margit Pelkonen, Maria Siponen, Markku Laakso, Mikko Hiltunen, Mikko Kiviniemi, Päivi Auvinen, Päivi Mäntylä, Reetta Kälviäinen, Valtteri Julkunen, Annika Auranen, Airi Jussila, Hannele Uusitalo‐Järvinen, Hannu Kankaanranta, Hannu Uusitalo, Jukka Peltola, Mika Kähönen, Tarja Laitinen, Teea Salmi, Elina Järvensivu, Essi Kaiharju, Hannele Mattsson, Kati Kristiansson, Lotta Männikkö, Markku Laukkanen, Markus Perola, Päivi Laiho, Regis Wong, Sini Lähteenmäki, Sirpa Soini, Teemu Niiranen, Teemu Paajanen, Terhi Kilpi, Tero Hiekkalinna, Tuuli Sistonen, Veikko Salomaa, Masahiro Kanai, Wei Zhou, Tomi P. Mäkelä, Manuel Rivas, Kimmo Palin, Harri Siirtola, Javier Gracia‐Tabuenca, Csilla Sipeky, Dhanaprakash Jambulingam, Johanna Schleutker, Samuel Heron, Venkat Subramaniam Rathinakannan, Aarno Palotie, Jaakko Kaprio, Heikki Joensuu, Mark J. Daly, Samuli Ripatti,

Abstract Polygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women in the FinnGen study with 8401 breast cancer cases, the PRS modifies the breast cancer risk of two high-impact frameshift risk variants. Similarly, we show that after the breast cancer diagnosis, individuals with elevated PRS have an elevated risk of developing contralateral breast ...

Nature Portfolio | Nature Communications

Artigo

Essi Viippola, Sara Kuitunen, Rodosthenis S. Rodosthenous, Andrius Vabalas, Tuomo Hartonen, Pekka Vartiainen, Joanne Demmler, Anna‐Leena Vuorinen, Aoxing Liu, Aki S. Havulinna, Vincent Llorens, Kira E Detrois, Feiyi Wang, Matteo Ferro, Antti Karvanen, J German, Sakari Jukarainen, Javier Gracia‐Tabuenca, Tero Hiekkalinna, Sami Koskelainen, Tuomo Kiiskinen, Elisa Lahtela, Susanna Lemmelä, Teemu Paajanen, Harri Siirtola, Mary Pat Reeve, Kati Kristiansson, Minna Brunfeldt, Mervi Aavikko, Finn Gen, Markus Perola, Andrea Ganna, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard Jacob, Dirk S. Paul, Athena Matakidou, Adam Platt, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Heli Salminen‐Mankonen, Robert M. Plenge, Joseph Maranville, Mark I. McCarthy, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Caroline S. Fox, Anders Mälarstig, K. Klinger, Clément Chatelain, Matthias Gossel, Karol Estrada, Robert Graham, Robert Yang, Chris O’Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Jukka Partanen, Anne Pitkäranta, Taneli Raivio, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari A. Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey F. Waring, Bridget Riley‐Gillis, Fedik Rahimov, Ioanna Tachmazidou, Chia‐Yen Chen, Heiko Runz, Zhihao Ding, Marc Jung, Shameek Biswas, Rion Pendergrass, Margaret G. Ehm, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Anders Mälarstig, Xinli Hu, Åsa K. Hedman, K. Klinger, Robert Graham, Manuel A. Rivas, Dawn Waterworth, Nicole Renaud, Ma’en Obeidat, Samuli Ripatti, Johanna Schleutker, Markus Perola, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Graham J. Mann, Katriina Aalto‐Setälä, Mika Kähönen, Jari A. Laukkanen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha O. Rinne, Roosa Kallionpää, Juulia Partanen, Ali Abbasi, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Heiko Runz, Sanni Lahdenperä, Shameek Biswas, Natalie Bowers, Edmond Teng, Rion Pendergrass, Fanli Xu, David Pulford, Kirsi Auro, Laura Addis, John D. Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Neha Raghavan, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Mark J. Daly, Ali Abbasi, Jeffrey F. Waring, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, Tim Lu, Natalie Bowers, Rion Pendergrass, Linda McCarthy, Amy Hart, Meijian Guan, Jason Miller, Kirsi Kalpala, Melissa R. Miller, Xinli Hu, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Ali Abbasi, Jeffrey F. Waring, Fedik Rahimov, Apinya Lertratanakul, Nizar Smaoui, Anne Lehtonen, Marla Hochfeld, Natalie Bowers, Rion Pendergrass, Jorge Esparza Gordillo, Kirsi Auro, Dawn Waterworth, Fabiana H.G. Farias, Kirsi Kalpala, Nan Bing, Xinli Hu, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Nizar Smaoui, Glenda Lassi, Susan Eaton, Hubert Chen, Rion Pendergrass, Natalie Bowers, Joanna Betts, Kirsi Auro, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Mika Kähönen, Jussi Hernesniemi, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Timo P. Hiltunen, Jari A. Laukkanen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Benjamin Challis, Dirk S. Paul, Natalie Bowers, Rion Pendergrass, Audrey Y. Chu, Kirsi Auro, Dermot F. Reilly, Mike Mendelson, Jaakko Parkkinen, Melissa R. Miller, Tuomo J Meretoja, Heikki Joensuu, Olli Carpén, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Johanna Schleutker, Esa Pitkänen, Nina Mars, Mark J. Daly, Relja Popovic, Jeffrey F. Waring, Bridget Riley‐Gillis, Anne Lehtonen, Jennifer L. Schutzman, Natalie Bowers, Rion Pendergrass, Diptee Kulkarni, Kirsi Auro, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, Sauli Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Esa Pitkänen, Mengzhen Liu, Heiko Runz, Stephanie Loomis, Erich C. Strauss, Natalie Bowers, Hao Chen, Rion Pendergrass, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, David F. Choy, Rion Pendergrass, Dawn Waterworth, Kirsi Kalpala, Ying Wu, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen,

Oxford University Press

Artigo

Valtteri Julkunen, Claudia Schwarz, Juho Kalapudas, Merja Hallikainen, Aino‐Kaisa Piironen, Graham J. Mann, Hanna Kujala, T. Laitinen, Veli‐Matti Kosma, Teemu Paajanen, Reetta Kälviäinen, Mikko Hiltunen, Sanna‐Kaisa Herukka, Sari Kärkkäinen, Tarja Kokkola, Mia Urjansson, Hilkka Soininen, Sami Heikkinen, Tomi P. Mäkelä, Anastasia Kytölä, Andrea Ganna, Anu Jalanko, Aoxing Liu, Arto Lehistö, Awaisa Ghazal, Elina Kilpeläinen, Elisabeth Widén, Elmo Saarentaus, Esa Pitkänen, Hanna M. Ollila, Hannele Laivuori, Henrike Heyne, Huei-Yi Shen, Joel Rämö, Juha Karjalainen, Juha Mehtonen, Jyrki Pitkänen, Kalle Pärn, Katja Kivinen, Elisa Lahtela, Mari Niemi, Mari Kaunisto, Mart Kals, Mary Pat Reeve, Mervi Aavikko, Nina Mars, Oluwaseun Alexander Dada, Pietro Della Briotta Parolo, Priit Palta, Rigbe Weldatsadik, Risto Kajanne, Rodos Rodosthenous, Samuli Ripatti, Sanni Ruotsalainen, Satu Strausz, Shabbeer Hassan, Shanmukha Sampath Padmanabhuni, Shuang Luo, Susanna Lemmelä, Taru Tukiainen, Timo P. Sipilä, Tuomo Kiiskinen, Vincent Llorens, Juulia Partanen, Aki S. Havulinna, Ji-Woo Lee, Kristin Tsuo, Mitja Kurki, Felix Vaura, Jaana Suvisaari, Teemu Niiranen, Veikko Salomaa, Chia‐Yen Chen, Sally John, Sanni Lahdenperä, Stephanie Loomis, Susan Eaton, Adam Ziemann, Ali Abbasi, Anne Lehtonen, Apinya Lertratanakul, Bridget Riley‐Gillis, Fedik Rahimov, Howard Jacob, Jeffrey F. Waring, Mengzhen Liu, Nizar Smaoui, Relja Popovic, Athena Matakidou, Benjamin Challis, Dirk S. Paul, Glenda Lassi, Ioanna Tachmazidou, Adam Platt, George Okafo, Heli Salminen‐Mankonen, Marc Jung, Nathan Lawless, Zhihao Ding, Joseph Maranville, Marla Hochfeld, Robert M. Plenge, Shameek Biswas, David F. Choy, Edmond Teng, Erich C. Strauss, Hao Chen, Hubert Chen, Jennifer L. Schutzman, Julie Hunkapiller, Mark I. McCarthy, Natalie Bowers, Rion Pendergrass, Tim Lu, Janet Kumar, Margaret G. Ehm, David Pulford, Adriana Huertas‐Vázquez, Caroline S. Fox, Jae-Hoon Sul, Neha Raghavan, Simonne Longerich, Anders Mälarstig, Heli Lehtonen, Jaakko Parkkinen, Kirsi Kalpala, Melissa R. Miller, Nan Bing, Stefan McDonough, Xinli Hu, Ying Wu, Clément Chatelain, Deepak Raipal, K. Klinger, Samuel Lessard, Eric Green, Robert Graham, Sahar V. Mozaffari, Robert Yang, Alessandro Porello, Amy Hart, Dawn Waterworth, Ekaterina Khramtsova, Karen He, Meijian Guan, Qingqin S. Li, Chris O’Donnell, Ma’en Obeidat, Nicole Renaud, Johanna Schleutker, Antti Hakanen, Nina Pitkänen, Perttu Terho, Petri Virolainen, Auli Toivola, Elina Järvensivu, Essi Kaiharju, Hannele Mattsson, Kati Kristiansson, Lotta Männikkö, Markku Laukkanen, Minna Brunfeldt, Päivi Laiho, Regis Wong, Sami Koskelainen, Sini Lähteenmäki, Sirpa Soini, Terhi Kilpi, Tero Hiekkalinna, Tuuli Sistonen, Jukka Partanen, Mikko Arvas, Anne Pitkäranta, Anu Loukola, Eero Punkka, Malla-Maria Linna, Olli Carpén, Taneli Raivio, Johannes Kettunen, Raisa Serpi, Reetta Hinttala, Tuomo Mantere, Eeva Kangasniemi, Henna Palin, Mika Kähönen, Sanna Siltanen, Tarja Laitinen, Jari A. Laukkanen, Teijo Kuopio, Johanna Mäkelä, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Katriina Aalto‐Setälä, Mark J. Daly, Amanda Elliott, Thomas D. Als, Masahiro Kanai, Mutaamba Maasha, Wei Zhou, Kristiina Aittomäki, Antti Mäkitie, Natalia Pujol, Triin Laisk, Jarmo Ritari, Kati Hyvärinen, Audrey Y. Chu, Diptee Kulkarni, Fanli Xu, Joanna Betts, John D. Eicher, Jorge Esparza Gordillo, Laura Addis, Linda McCarthy, Rajashree Mishra, Kirsi Auro, Joni A. Turunen, Aino Salminen, Antti A. Aarnisalo, Daniel Gordin, David Rice, Erkki Isometsä, Eveliina Salminen, Heikki Joensuu, Ilkka Kalliala, Johanna Mattson, Juha Sinisalo, Jukka Koskela, Kari K. Eklund, Katariina Hannula-Jouppi, Lauri A. Aaltonen, Marja‐Riitta Taskinen, Martti Färkkilâ, Minna Raivio, Oskari Heikinheimo, Dirk S. Paul, Pekka Nieminen, Pentti Tienari, Pirkko J. Pussinen, Sampsa Pikkarainen, Terhi Ollila, Jaakko Tuomilehto, Timo P. Hiltunen, Tuomo J Meretoja, Tuula Salo, Ulla Palotie, Antti Palomäki, Jenni Aittokallio, Juha O. Rinne, Kaj Metsärinne, Klaus Elenius, Laura Pirilä, Leena Koulu, Markku Voutilainen, Riitta Lahesmaa, Roosa Kallionpää, Sirkku Peltonen, Tytti Willberg, Ulvi Kahraman Gürsoy, Varpu Jokimaa, Kati Donner, Dermot F. Reilly, Sauli Vuoti, Andrey Loboda, Fabiana H.G. Farias, Jason E. Miller, Anne M. Remes, Elisa Rahikkala, Johanna Huhtakangas, Kaisa Tasanen, Laura Huilaja, Laure Morin‐Papunen, Maarit Niinimäki, Marja Vääräsmäki, Outi Uimari, Peeter Karihtala, Terhi Piltonen, Terttu Harju, Timo Blomster, Vuokko Anttonen, Kai Kaarniranta, Liisa Suominen, Margit Pelkonen, Maria Siponen, Mikko Kiviniemi, Oili Kaipiainen‐Seppänen, Päivi Auvinen, Päivi Mäntylä, Debby Ngo, Majd Mouded, Mike Mendelson, Annika Auranen, Airi Jussila, Argyro Bizaki-Vallaskangas, Hannu Uusitalo, Jukka Peltola,

Abstract Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks with comprehensive health and genetic data from large numbers of individuals hold promise to facilitate identification of trial participants, particularly when interventions need to start while symptoms are still mild, such as for Alzheimer’s disease (AD). This study describes a process for clinical recall studies from ...

Nature Portfolio

Artigo Acesso aberto Revisado por pares

Perttu J. Liuska, Susanna Lemmelä, Aki S. Havulinna, Kai Kaarniranta, Hannu Uusitalo, Hannele Laivuori, Tuomo Kiiskinen, Mark J. Daly, Aarno Palotie, Joni A. Turunen, Howard J. Jacob, Athena Matakidou, Heiko Runz, Sally John, Robert Plenge, Julie Hunkapiller, Meg Ehm, Dawn Waterworth, Caroline S. Fox, Anders Mälarstig, Kathy Klinger, Kathy Call, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Kari Pulkki, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Riitta Kaarteenaho, Seppo Vainio, Kimmo Savinainen, Veli‐Matti Kosma, Urho M. Kujala, Jeff Waring, Bridget Riley‐Gillis, Jiang Liu, Shameek Biswas, J. M. Hoffman, Dorothée Diogo, Catherine Marshall, Xinli Hu, Samuli Ripatti, Johanna Schleutker, Tiina Wahlfors, Olli Carpén, Johanna Myllyharju, Johannes Kettunen, Reijo Laaksonen, Arto Mannermaa, Juha Paloneva, Hilkka Soininen, Valtteri Julkunen, Anne M. Remes, Reetta Kälviäinen, Mikko Hiltunen, Jukka Peltola, Pentti Tienari, Juha O. Rinne, Adam Ziemann, Jeffrey F. Waring, Sahar Esmaeeli, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Sanni Lahdenperä, Janet van Adelsberg, John A. Michon, Geoff Kerchner, Natalie Bowers, Edmond Teng, John D. Eicher, Vinay Mehta, Padhraig Gormley, Kari Linden, Christopher D. Whelan, Fanli Xu, David Pulford, Martti Färkkilâ, Sampsa Pikkarainen, Airi Jussila, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Bob Georgantas, Graham Heap, Fedik Rahimov, Keith Usiskin, Tim Lu, Danny Oh, Dermot F. Reilly, Kirsi Kalpala, Melissa R. Miller, Linda McCarthy, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Apinya Lertratanakul, David A. Close, Marla Hochfeld, Nan Bing, Jorge Esparza Gordillo, Nina Mars, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Steven Greenberg, Hubert Chen, Jo Betts, Soumitra Ghosh, Veikko Salomaa, Teemu Niiranen, Markus Juonala, Kaj Metsärinne, Mika Kähönen, Juhani Junttila, Markku Laakso, Jussi Pihlajamäki, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Jari A. Laukkanen, Ben Challis, Andrew S. Peterson, Audrey Y. Chu, Jaakko Parkkinen, Anthony J. Muslin, Heikki Joensuu, Tuomo J Meretoja, Lauri A. Aaltonen, Annika Auranen, Peeter Karihtala, Saila Kauppila, Päivi Auvinen, Klaus Elenius, Relja Popovic, Jennifer L. Schutzman, Andrey Loboda, Aparna Chhibber, Heli Lehtonen, Stefan McDonough, Marika Crohns, Diptee Kulkarni, Terhi Ollila, Sanna Seitsonen, Vesa Aaltonen, Hannele Uusitalo‐Järvinen, Marja Luodonpää, Nina Hautala, Erich C. Strauss, Hao Chen, Anna Podgornaia, Joshua Hoffman, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Ilkka T. Harvima, Ying Wu, David F. Choy, Anu Jalanko, Risto Kajanne, Ulrike Lyhs, Mari Kaunisto, J. Wade Davis, Danjuma Quarless, Slavé Petrovski, Chia‐Yen Chen, Paola G. Bronson, Robert Yang, Joseph Maranville, Diana Chang, Tushar Bhangale, Emily Holzinger, Xulong Wang, Xing Chen, Åsa K. Hedman, Clarence Wang, Ethan Xu, Franck Augé, Clément Chatelain, Mitja Kurki, Juha Karjalainen, Kimmo Palin, Priit Palta, Pietro Della Briotta Parolo, Wei Zhou, Manuel A. Rivas, Jarmo Harju, Arto Lehistö, Andrea Ganna, Vincent Llorens, Antti Karlsson, Kati Kristiansson, Mikko Arvas, Kati Hyvärinen, Jarmo Ritari, Miika Koskinen, Katri Pylkäs, Marita Kalaoja, Minna K. Karjalainen, Tuomo Mantere, Eeva Kangasniemi, Sami Heikkinen, Eija K. Laakkonen, Juha Kononen, Anu Loukola, Päivi Laiho, Tuuli Sistonen, Essi Kaiharju, Markku Laukkanen, Elina Järvensivu, Sini Lähteenmäki, Lotta Männikkö, Regis Wong, Hannele Mattsson, Tero Hiekkalinna, Manuel González Jiménez, Kati Donner, Kalle Pärn, Javier Núñez-Fontarnau, Elina Kilpeläinen, Timo P. Sipilä, Georg Brein, Alexander Dada, Anastasia Shcherban, Tuomas Sipilä, Harri Siirtola, Javier Gracia‐Tabuenca, Lila Kallio, Sirpa Soini, Kimmo Pitkänen, Teijo Kuopio,

The c.1102C>T, p.(Gln368Ter) variant in the myocilin (MYOC) gene is a known risk allele for glaucoma. It is the most common MYOC risk variant for glaucoma among individuals of European ancestry, and its prevalence is highest in Finland. Furthermore, exfoliation syndrome has high prevalence in Scandinavia, making the Finnish population ideal to study the association of the variant with different types of glaucoma.To examine the association and penetrance of MYOC p.(Gln368Ter) (rs74315329) variant with ...

Tópico(s): Proteoglycans and glycosaminoglycans research

2021 - American Medical Association | JAMA Ophthalmology

Artigo

Richard Ågren, Snehal Patil, Xiang Zhou, Aarno Palotie, Mark J. Daly, Bridget Riley-Gills, Howard Jacob, Dirk S. Paul, Athena Matakidou, Adam Platt, Heiko Runz, Sally John, George Okafo, Nathan Lawless, Robert Plenge, Joseph Maranville, Mark I. McCarthy, Julie Hunkapiller, Margaret G. Ehm, Kirsi Auro, Simonne Longerich, Caroline S. Fox, Anders Mälarstig, K. Klinger, Deepak Raipal, Eric Green, Robert Graham, Robert Yang, Chris O’Donnell, Tomi P. Mäkelä, Jaakko Kaprio, Petri Virolainen, Antti Hakanen, Terhi Kilpi, Markus Perola, Jukka Partanen, Anne Pitkäranta, Juhani Junttila, Raisa Serpi, Tarja Laitinen, Veli‐Matti Kosma, Jari A. Laukkanen, Marco Hautalahti, Outi Tuovila, Raimo Pakkanen, Jeffrey F. Waring, Bridget Riley‐Gillis, Fedik Rahimov, Ioanna Tachmazidou, Chia‐Yen Chen, Heiko Runz, Zhihao Ding, Marc Jung, Shameek Biswas, Rion Pendergrass, Julie Hunkapiller, Margaret G. Ehm, David Pulford, Neha Raghavan, Adriana Huertas‐Vázquez, Jae-Hoon Sul, Anders Mälarstig, Xinli Hu, K. Klinger, Robert Graham, Eric Green, Sahar V. Mozaffari, Dawn Waterworth, Nicole Renaud, Ma’en Obeidat, Samuli Ripatti, Johanna Schleutker, Markus Perola, Mikko Arvas, Olli Carpén, Reetta Hinttala, Johannes Kettunen, Graham J. Mann, Katriina Aalto‐Setälä, Mika Kähönen, Jari A. Laukkanen, Johanna Mäkelä, Reetta Kälviäinen, Valtteri Julkunen, Hilkka Soininen, Anne M. Remes, Mikko Hiltunen, Jukka Peltola, Minna Raivio, Pentti Tienari, Juha O. Rinne, Roosa Kallionpää, Juulia Partanen, Ali Abbasi, Adam Ziemann, Nizar Smaoui, Anne Lehtonen, Susan Eaton, Heiko Runz, Sanni Lahdenperä, Shameek Biswas, Julie Hunkapiller, Natalie Bowers, Edmond Teng, Rion Pendergrass, Fanli Xu, David Pulford, Kirsi Auro, Laura Addis, John D. Eicher, Qingqin S. Li, Karen He, Ekaterina Khramtsova, Neha Raghavan, Martti Färkkilâ, Jukka Koskela, Sampsa Pikkarainen, Airi Jussila, Katri Kaukinen, Timo Blomster, Mikko Kiviniemi, Markku Voutilainen, Mark J. Daly, Ali Abbasi, Jeffrey F. Waring, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, Tim Lu, Natalie Bowers, Rion Pendergrass, Linda McCarthy, Amy Hart, Meijian Guan, Jason Miller, Kirsi Kalpala, Melissa R. Miller, Xinli Hu, Kari K. Eklund, Antti Palomäki, Pia Isomäki, Laura Pirilä, Oili Kaipiainen‐Seppänen, Johanna Huhtakangas, Nina Mars, Ali Abbasi, Jeffrey F. Waring, Fedik Rahimov, Apinya Lertratanakul, Nizar Smaoui, Anne Lehtonen, David A. Close, Marla Hochfeld, Natalie Bowers, Rion Pendergrass, Jorge Esparza Gordillo, Kirsi Auro, Dawn Waterworth, Fabiana H.G. Farias, Kirsi Kalpala, Nan Bing, Xinli Hu, Tarja Laitinen, Margit Pelkonen, Dirk S. Paul, Hannu Kankaanranta, Terttu Harju, Riitta Lahesmaa, Nizar Smaoui, Alex Mackay, Glenda Lassi, Susan Eaton, Hubert Chen, Rion Pendergrass, Natalie Bowers, Joanna Betts, Kirsi Auro, Rajashree Mishra, Majd Mouded, Debby Ngo, Teemu Niiranen, Felix Vaura, Veikko Salomaa, Kaj Metsärinne, Jenni Aittokallio, Mika Kähönen, Jussi Hernesniemi, Daniel Gordin, Juha Sinisalo, Marja‐Riitta Taskinen, Jaakko Tuomilehto, Timo P. Hiltunen, Jari A. Laukkanen, Amanda Elliott, Mary Pat Reeve, Sanni Ruotsalainen, Benjamin Challis, Dirk S. Paul, Julie Hunkapiller, Natalie Bowers, Rion Pendergrass, Audrey Y. Chu, Kirsi Auro, Dermot F. Reilly, Mike Mendelson, Jaakko Parkkinen, Melissa R. Miller, Tuomo J Meretoja, Heikki Joensuu, Olli Carpén, Johanna Mattson, Eveliina Salminen, Annika Auranen, Peeter Karihtala, Päivi Auvinen, Klaus Elenius, Johanna Schleutker, Esa Pitkänen, Nina Mars, Mark J. Daly, Relja Popovic, Jeffrey F. Waring, Bridget Riley‐Gillis, Anne Lehtonen, Jennifer L. Schutzman, Julie Hunkapiller, Natalie Bowers, Rion Pendergrass, Diptee Kulkarni, Kirsi Auro, Alessandro Porello, Andrey Loboda, Heli Lehtonen, Stefan McDonough, Sauli Vuoti, Kai Kaarniranta, Joni A. Turunen, Terhi Ollila, Hannu Uusitalo, Juha Karjalainen, Esa Pitkänen, Mengzhen Liu, Heiko Runz, Stephanie Loomis, Erich C. Strauss, Natalie Bowers, Hao Chen, Rion Pendergrass, Kaisa Tasanen, Laura Huilaja, Katariina Hannula-Jouppi, Teea Salmi, Sirkku Peltonen, Leena Koulu, Nizar Smaoui, Fedik Rahimov, Anne Lehtonen, David F. Choy, Rion Pendergrass, Dawn Waterworth, Kirsi Kalpala, Ying Wu, Pirkko J. Pussinen, Aino Salminen, Tuula Salo, David Rice, Pekka Nieminen, Ulla Palotie, Maria Siponen, Liisa Suominen, Päivi Mäntylä, Ulvi Kahraman Gürsoy, Vuokko Anttonen, Kirsi Sipilä, Rion Pendergrass, Hannele Laivuori, Venla Kurra, Laura Kotaniemi‐Talonen, Oskari Heikinheimo, Ilkka Kalliala, Lauri A. Aaltonen, Varpu Jokimaa, Johannes Kettunen, Marja Vääräsmäki, Outi Uimari, Laure Morin‐Papunen, Maarit Niinimäki, Terhi Piltonen, Katja Kivinen, Elisabeth Widén, Taru Tukiainen, Mary Pat Reeve, Mark J. Daly, Niko Välimäki, Eija K. Laakkonen, Jaakko Tyrmi,

Abstract Dupuytren's disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted by Dupuytren's disease, up to ∼30% of men over 60 years suffer from this condition in northern Europe. Here, we meta-analyze 3 biobanks comprising 7,871 cases and 645,880 controls and find 61 genome-wide significant variants associated with Dupuytren's disease. We show that 3 of the 61 loci harbor alleles of Neandertal origin, including the ...

Oxford University Press

Artigo Acesso aberto Revisado por pares

Jessica S Hayes, Marta Barreto, Laura Kalin-Mänttäri, Ricardo Mexía, Máire A Connolly, Liina Voutilainen,

Abstract Background In collaboration with six European public health agencies as part of the PANDEM-2 consortium, we have developed and validated a self-assessment tool that captures the workforce capacities and capabilities needed at the institutional level within National Public Health Institutes (NPHIs) to deal with public health emergencies. Methods The work carried out in this study included (i) a review of existing tools for workforce assessment, (ii) focus group discussions and interviews to ...

Tópico(s): Delphi Technique in Research

2024 - Oxford University Press | European Journal of Public Health

Artigo

Andrea Rodriguez‐Martinez, Bin Zhou, Marisa K. Sophiea, James Bentham, Christopher Paciorek, Maria LC Iurilli, Rodrigo M. Carrillo‐Larco, James E Bennett, Mariachiara Di Cesare, Cristina Taddei, Honor Bixby, Gretchen A Stevens, Leanne M Riley, Melanie Cowan, Stefan Savin, Goodarz Danaei, Adela Chiriţă-Emandi, André Pascal Kengne, Young-Ho Khang, Avula Laxmaiah, Reza Malekzadeh, J Jaime Miranda, Jin Soo Moon, Stevo Popovic, Thorkild IA Sørensen, Maroje Soric, Gregor Starc, Ahmad Ali Zainuddin, Edward W. Gregg, Zulfiqar A Bhutta, Robert E. Black, Leandra Abarca-Gómez, Ziad Abdeen, Shynar Abdrakhmanova, Suhaila Abdul Ghaffar, Hanan F Abdul Rahim, Niveen Abu-Rmeileh, Jamila Abubakar Garba, Benjamín Acosta-Cázares, Robert J Adams, Wichai Aekplakorn, Kaosar Afsana, Shoaib Afzal, Imelda Angeles‐Agdeppa, Javad Aghazadeh-Attari, Carlos A Aguilar-Salinas, Charles Agyemang, Mohamad Hasnan Ahmad, Noor Ani Ahmad, Ali Ahmadi, Naser Ahmadi, Soheir H. Ahmed, Wolfgang Ahrens, Gulmira Aitmurzaeva, Kamel Ajlouni, Hazzaa M Al-Hazzaa, Amani Al‐Othman, Rajaa Al‐Raddadi, Monira Alarouj, Fadia AlBuhairan, Shahla AlDhukair, Mohamed M Ali, Abdullah Alkandari, Ala'a Alkerwi, Kristine H. Allin, Mar Álvarez‐Pedrerol, Eman Aly, Deepak Amarapurkar, Parisa Amiri, Norbert Amougou, Philippe Amouyel, Lars Bo Andersen, Sigmund A. Anderssen, Lars Ängquist, Ranjit Mohan Anjana, Alireza Ansari-Moghaddam, Hajer Aounallah-Skhiri, Joana Araújo, Inger Ariansen, Tahir Aris, Raphael E. Arku, Nimmathota Arlappa, Kavumpurathu Raman Thankappan, Thor Aspelund, Félix Assah, Maria Cecília F Assunção, May Soe Aung, Juha Auvinen, Mária Avdičová, Ana Azevedo, Mohsen Azimi-Nezhad, Fereidoun Azizi, Mehrdad Azmin, Bontha V. Babu, Maja Bæksgaard Jørgensen, Azli Baharudin, Suhad Bahijri, Jennifer L. Baker, Nagalla Balakrishna, Mohamed Bamoshmoosh, Maciej Banach, Piotr Bandosz, José R Banegas, Joanna Baran, Carlo M Barbagallo, Alberto Barceló, Amina Barkat, Aluisio JD Barros, Mauro Virgílio Gomes Barros, Abdul Basit, Joao Luiz D Bastos, Iqbal Bata, Anwar Batieha, Rosângela Fernandes Lucena Batista, Zhamilya Battakova, Assembekov Batyrbek, Louise A. Baur, R Beaglehole, Silvia Bel‐Serrat, Belavendra Antonisamy, Habiba Ben Romdhane, Judith Benedics, Mikhail Benet Rodríguez, James E Bennett, Salim Berkinbayev, Antonio Bernabé‐Ortiz, Gailutė Bernotienė, Heloísa Bettiol, Jorge Bezerra, Aroor Bhagyalaxmi, Sumit Bharadwaj, Santosh K. Bhargava, Zulfiqar A Bhutta, Hongsheng Bi, Yufang Bi, Daniel Bia, Elysée Claude Bika Lele, Mukharram M Bikbov, Bihungum Bista, Duško Bjelica, Peter Bjerregaard, Espen Bjertness, Marius B Bjertness, Cecilia Björkelund, Kátia Vergetti Bloch, Anneke Blokstra, Simona Bo, Martin Bobák, Lynne M. Boddy, Bernhard O Boehm, Heiner Boeing, Jose G Boggia, Elena Bogova, Carlos P Boissonnet, Stig E Bojesen, Marialaura Bonaccio, Vanina Bongard, Alice Bonilla-Vargas, Matthias Bopp, Herman Borghs, Pascal Bovet, Lien Braeckevelt, Lutgart Braeckman, Marjolijn CE Bragt, Imperia Brajkovich, Francesco Branca, Juergen Breckenkamp, João Breda, Hermann Brenner, Lizzy M. Brewster, Garry Brian, Lăcrămioara Aurelia Brîndușe, Sinèad Brophy, Graziella Bruno, H. Bas Bueno-de-Mesquita, Anna Bugge, Marta Buoncristiano, Genc Burazeri, Con Burns, Antonio Cabrera de León, Joseph Cacciottolo, Hui Cai, Tilema Cama, Christine Cameron, José Camolas, Günay Can, Ana Paula Carlos Cândido, Felicia Cañete, Mario V. Capanzana, Naděžda Čapková, Eduardo Capuano, Vincenzo Capuano, Marloes Cardol, Viviane C Cardoso, Axel C. Carlsson, Estéban Carmuega, Joana Carvalho, José A. Casajús, Felipe F. Casanueva, Ertugrul Celikcan, Laura Censi, Marvin Cervantes–Loaiza, Juraci A. César, Snehalatha Chamukuttan, Angelique Chan, Queenie Chan, Himanshu K Chaturvedi, Nish Chaturvedi, Norsyamlina Che Abdul Rahim, Chien‐Jen Chen, Fangfang Chen, Huashuai Chen, Shuohua Chen, Zhengming Chen, Ching-Yu Cheng, Bahman Cheraghian, Angela Chetrit, Ekaterina Chikova‐Iscener, Arnaud Chioléro, Shu-Ti Chiou, Adela Chiriţă-Emandi, María-Dolores Chirlaque, Belong Cho, Kaare Christensen, Diego Giulliano Destro Christófaro, Jerzy Chudek, Renata Cifkova, Michelle Cilia, Eliza Cinteza, Frank Claessens, Janine Clarke, Els Clays, Emmanuel Cohen, Hans Concin, Susana C Confortin, Cyrus Cooper, Tara Coppinger, Eva Corpeleijn, Simona Costanzo, Dominique Cottel, Chris Cowell, Cora L. Craig, Amelia C. Crampin, Ana B. Crujeiras, Semánová Csilla, Alexandra M Cucu, Liufu Cui, Felipe Vogt Cureau, Graziella D’Arrigo, Eleonora d’Orsi, Liliana Dacica, María Ángeles Dal Re Saavedra, Jean Dallongeville, Albertino Damasceno, Camilla T. Damsgaard, Goodarz Danaei, Rachel Dankner, Thomas Meinertz Dantoft, Parasmani Dasgupta, Saeed Dastgiri, Luc Dauchet, Kairat Davletov, Guy De Backer, Dirk De Bacquer, Giovanni de Gaetano, Stefaan De Henauw, Paula Duarte de Oliveira, David De Ridder, Karin De Ridder, Susanne R. de Rooij, Delphine De Smedt, Mohan Deepa, А. Д. Деев, Vincent Jr DeGennaro, Abbas Dehghan, Hélène Delisle, Francis Delpeuch, Stefaan Demarest, Elaine Dennison, Katarzyna Dereń, Valérie Deschamps, Klodian Dhana, Meghnath Dhimal, Augusto Di Castelnuovo, Juvenal Soares Dias da Costa, María Elena Díaz Sánchez, Alejandro Díaz, Živka Dika, Shirin Djalalinia, Visnja Djordjic, Ha TP, Annette J. Dobson, Maria Benedetta Donati, Chiara Donfrancesco, Silvana P Donoso, Angela Döring,

BackgroundComparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents.MethodsFor this pooled analysis, we used a database of cardiometabolic risk factors collated by the Non-Communicable Disease Risk Factor Collaboration. We applied a Bayesian hierarchical ...

Elsevier BV