Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Taru, Tukiainen"'
Autor:
Veikko Salomaa, Shabbeer Hassan, Matti Pirinen, Taru Tukiainen, Priit Palta, Marja-Riitta Taskinen, Aarno Palotie, Samuli Ripatti, Ida Surakka, Maija Wessman
Publikováno v:
European Journal of Human Genetics
Recombination is an essential part of meiosis as it facilitates novel combinations of homologous chromosomes, following their successive segregation in offspring. Founder population size, demographic changes (eg. population bottlenecks or rapid expan
Autor:
Christopher Hartl, Katherine Tooley, Laura Riba, David Torrents, Ulises Alvirde, Olimpia Arellano-Campos, Ralph A. DeFronzo, Taru Tukiainen, Geoffrey A. Walford, Noël P. Burtt, Donna M. Lehman, Amy L. Williams, Alicia Huerta-Chagoya, Pierre Fontanillas, Richa Saxena, Stacey Gabriel, Michael Boehnke, Carlos A. Aguilar-Salinas, Stephan Ripke, Yayoi Segura-Kato, Steven A. McCarroll, Jacqueline M. Lane, Brian E. Henderson, Ravindranath Duggirala, Sobha Puppala, Ignasi Moran, Humberto García-Ortiz, Lizz Caulkins, María Elena González-Villalpando, Vineeta Agarwala, Maria L. Cortes, Jorge Ferrer, Cristina Revilla-Monsalve, Graeme I. Bell, Jason Flannick, Francisco Barajas-Olmos, María Luisa Ordóñez-Sánchez, Angélica Martínez-Hernández, Robert L. Hanson, Jose C. Florez, Broad Genomics Platform, Clicerio González-Villalpando, Ivette Cruz-Bautista, Rosario Rodríguez-Guillén, Sílvia Bonàs-Guarch, Rachel G. Liao, Lorena Orozco, Kathleen A. Jablonski, Daniel G. MacArthur, Elvia Mendoza-Caamal, Emilio J. Cordova, Karol Estrada, Hortensia Moreno-Macías, Leslie J. Baier, Avery Davis Bell, Hanna E. Abboud, Suzanne B.R. Jacobs, Maribel Rodriguez-Torres, Xavier Soberón, William C. Knowler, David Altshuler, Zachary Dymek, Christopher A. Haiman, Josep M. Mercader, Donaji V. Gómez-Velasco, Liliana Muñoz-Hernandez, Joanne E. Curran, Loic Le Marchand, Maegan Harden, Lynne R. Wilkens, John Blangero, Teresa Tusié-Luna, Federico Centeno-Cruz, Ling Chen, Craig L. Hanis, Carlos Zerrweck, Sergio Islas-Andrade, Cecilia Contreras-Cubas, Christopher P. Jenkinson
Publikováno v:
Diabetes. 66:2903-2914
Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue to rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed and replicated g
Autor:
Fleur C. Garton, Jane T. Seto, Taru Tukiainen, Nan Yang, Stewart I. Head, Peter J. Houweling, Daniel G. MacArthur, Kate G. R. Quinlan, Marshall W. Hogarth, Monkol Lek, Kathryn N. North
Publikováno v:
Human Molecular Genetics. 25:866-877
A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ∼ 18% of the global population. There is no associated disease phenotype, but α-actinin-3 deficiency is detrimental to sprint and power performance in both elite athlete
Autor:
Stefan Blankenberg, Johannes Kettunen, Terho Lehtimäki, Mika Kähönen, Tanja Zeller, Kati Kristiansson, Aki S. Havulinna, Antti Jula, Taru Tukiainen, Veikko Salomaa, Markus Perola, Perttu Salo, Johan G. Eriksson, Minna Männikkö, Olli T. Raitakari
Publikováno v:
Circulation. Cardiovascular Genetics
Supplemental Digital Content is available in the text.
Background— Cardiomyocytes secrete atrial natriuretic peptide (ANP) and B-type natriuretic peptide (BNP) in response to mechanical stretching, making them useful clinical biomarkers of car
Background— Cardiomyocytes secrete atrial natriuretic peptide (ANP) and B-type natriuretic peptide (BNP) in response to mechanical stretching, making them useful clinical biomarkers of car
Autor:
Richard H. Duerr, Dalin Li, Ming-Hsi Wang, Tariq Ahmad, John D. Rioux, Patrick Sulem, Daniel B. Graham, Steven R. Brant, Severine Vermeire, Mark Tremelling, James Lee, Leena Halme, K. de Lane, Miguel Regueiro, M Parkes, David C. Wilson, Alain Bitton, R. Milgrom, Daniel G. MacArthur, Marijn C. Visschedijk, Sören Mucha, Kenneth Croitoru, Alison Simmons, Mark S. Silverberg, Rinse K. Weersma, Jonas Halfvarson, Daniel L. Rice, J. M. Stempak, Christopher J. Hawkey, Mauro D'Amato, Christopher G. Mathew, Philippe Goyette, Frauke Degenhardt, Daniel F. Gudbjartsson, Mark J. Daly, Kari Stefansson, Beryl B. Cummings, Maarit Lappalainen, Päivi Saavalainen, Paulina Paavola-Sakki, P. Fleshner, Talin Haritunians, Joshua C. Randall, Elaine R. Nimmo, Taru Tukiainen, Christine Stevens, Subra Kugathasan, Monkol Lek, Andre Franke, Kimmo Kontula, Unnur Thorsteinsdottir, Andrew Hart, Martin O. Pollard, Gabrielle Boucher, Natalie J. Prescott, Benjamin M. Neale, Holm H. Uhlig, Carl A. Anderson, Ashwin N. Ananthakrishnan, Luke Jostins, C. Mowatt, Judy H. Cho, B. Newman, A. Nicole Desch, Yang Luo, Dermot P.B. McGovern, Clara Abraham, Ingileif Jonsdottir, Jeffrey C. Barrett, John C. Mansfield, Jean-Paul Achkar, Charlie W. Lees, Martti Färkkilä, Ramnik J. Xavier, S. R. Targan, Manuel A. Rivas, Deborah D. Proctor, Johan Van Limbergen, Nicholas A. Kennedy, Christopher A. Lamb, Jürgen Glas, Vito Annese, Yashoda Sharma, Phil Schumm, Graham A. Heap, Cathryn Edwards, Lotta L. E. Koskinen, Jack Satsangi, Mitja I. Kurki, Aarno Palotie
Publikováno v:
Rivas, M A, Graham, D, Sulem, P, Stevens, C, Desch, A N, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, Mucha, S, Kurki, M I, Li, D, D'Amato, M, Annese, V, Vermeire, S, Weersma, R K, Halfvarson, J, Paavola-Sakki, P, Lappalainen, M, Lek, M, Cummings, B, Tukiainen, T, Haritunians, T, Halme, L, Koskinen, L L E, Ananthakrishnan, A N, Luo, Y, Heap, G A, Visschedijk, M C, MacArthur, D G, Neale, B M, Ahmad, T, Anderson, C A, Brant, S R, Duerr, R H, Silverberg, M S, Cho, J H, Palotie, A, Saavalainen, P, Kontula, K, Färkkilä, M, McGovern, D P B, Franke, A, Stefansson, K, Rioux, J D, Xavier, R J, Daly, M J, Barrett, J, De Lane, K, Edwards, C, Hart, A, Hawkey, C, Jostins, L, Kennedy, N, Lamb, C, Lee, J, Lees, C, Mansfield, J, Mathew, C, Mowatt, C, Newman, B, Nimmo, E, Parkes, M, Pollard, M, Prescott, N, Randall, J, Rice, D, Satsangi, J, Simmons, A, Tremelling, M, Uhlig, H, Wilson, D, Abraham, C, Achkar, J P, Bitton, A, Boucher, G, Croitoru, K, Fleshner, P, Glas, J, Kugathasan, S, Limbergen, J V, Milgrom, R, Proctor, D, Regueiro, M, Schumm, P L, Sharma, Y, Stempak, J M, Targan, S R & Wang, M H 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Rivas, M A, Graham, D, Sulem, P, Stevens, C, Desch, A N, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, Mucha, S, Kurki, M I, Li, D, D'Amato, M, Annese, V, Vermeire, S, Weersma, R K, Halfvarson, J, Paavola-Sakki, P, Lappalainen, M, Lek, M, Cummings, B, Tukiainen, T, Haritunians, T, Halme, L, Koskinen, L L E, Ananthakrishnan, A N, Luo, Y, Heap, G A, Visschedijk, M C, MacArthur, D G, Ahmad, T, Anderson, C A, Brant, S R, Duerr, R H, Silverberg, M S, Cho, J H, Palotie, A, Saavalainen, P, Kontula, K, Färkkilä, M, McGovern, D P B, Franke, A, Stefansson, K, Rioux, J D, Xavier, R J, Daly, M J, Hawkey, C, Mathew, C, Prescott, N 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
UK IBD Genetics Consortium & Newman, W 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
Nature Communications, 7:12342. Nature Publishing Group
Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Rivas, M A, Graham, D, Sulem, P, Stevens, C, Desch, A N, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, Mucha, S, Kurki, M I, Li, D, D'Amato, M, Annese, V, Vermeire, S, Weersma, R K, Halfvarson, J, Paavola-Sakki, P, Lappalainen, M, Lek, M, Cummings, B, Tukiainen, T, Haritunians, T, Halme, L, Koskinen, L L E, Ananthakrishnan, A N, Luo, Y, Heap, G A, Visschedijk, M C, MacArthur, D G, Ahmad, T, Anderson, C A, Brant, S R, Duerr, R H, Silverberg, M S, Cho, J H, Palotie, A, Saavalainen, P, Kontula, K, Färkkilä, M, McGovern, D P B, Franke, A, Stefansson, K, Rioux, J D, Xavier, R J, Daly, M J, Hawkey, C, Mathew, C, Prescott, N 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
UK IBD Genetics Consortium & Newman, W 2016, ' A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis ', Nature Communications, vol. 7, 12342 . https://doi.org/10.1038/ncomms12342
Nature Communications, 7:12342. Nature Publishing Group
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Protein-truncating variants protective agains
Autor:
Pasi Soininen, Emmi Tikkanen, Anneli Pouta, Antti Jula, Taru Tukiainen, Antti-Pekka Sarin, Veikko Salomaa, Antti J. Kangas, Matti Jauhiainen, Jorma Viikari, Johan G. Eriksson, Kimmo Kaski, Aarno Palotie, Olli T. Raitakari, Marjo-Riitta Järvelin, Leo-Pekka Lyytikäinen, Mika Ala-Korpela, Johannes Kettunen, Markus Perola, Paul F. O'Reilly, Markku J. Savolainen, Terho Lehtimäki, Marja-Riitta Taskinen, Samuli Ripatti, Mika Kähönen
Publikováno v:
Human Molecular Genetics; Vol 21
Almost 100 genetic loci are known to affect serum cholesterol and triglyceride levels. For many of these loci, the biological function and causal variants remain unknown. We performed an association analysis of the reported 95 lipid loci against 216
Autor:
Domenico Girelli, Svati H. Shah, Seppo Koskinen, Mark I. McCarthy, Reedik Mägi, Yingleong Chan, Joel N. Hirschhorn, Aarno Palotie, Muredach P. Reilly, G K Hovingh, Hugh Watkins, Taru Tukiainen, Claes Ladenvall, Jason Flannick, Eija Hämäläinen, Suzannah Bumpstead, Markus Perola, Mark J. Daly, Leif Groop, Diego Ardissino, Aki S. Havulinna, Stacey Gabriel, Veikko Salomaa, Priit Palta, Michael Boehnke, Xueling Sim, Jeffrey C. Barrett, Rany M. Salem, Peter Würtz, Alexander P. Reiner, Ruth McPherson, Tõnu Esko, Monkol Lek, Andres Metspalu, Sekar Kathiresan, Karola Rehnström, Cecilia M. Lindgren, Sirpa Jalkanen, Stefan Blankenberg, Nathan O. Stitziel, Benjamin D. Horne, Nelson B. Freimer, Anuj Goel, Mikael Maksimow, Michael Inouye, Daniel G. MacArthur, Olli T. Raitakari, Richard Durbin, Martin Farrall, Terho Lehtimäki, Kristiina Aalto, Tanja Zeller, Tuuli Lappalainen, David Altshuler, Markku Laakso, Samuli Ripatti, Marko Salmi, Elaine T. Lim, Alisa K. Manning, Jaakko Kaprio
Publikováno v:
Lim, ET; Würtz, P; Havulinna, AS; Palta, P; Tukiainen, T; Rehnström, K; et al.(2014). Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. PLoS Genetics, 10(7). doi: 10.1371/journal.pgen.1004494. UCLA: Retrieved from: http://www.escholarship.org/uc/item/41x607qf
PLoS Genetics, Vol 10, Iss 7, p e1004494 (2014)
PLoS genetics, vol 10, iss 7
PLoS Genetics
Public Library of Science
PLoS genetics, 10(7). Public Library of Science
PLoS Genetics, Vol 10, Iss 7, p e1004494 (2014)
PLoS genetics, vol 10, iss 7
PLoS Genetics
Public Library of Science
PLoS genetics, 10(7). Public Library of Science
Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically releva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dde4079b8bb245de50c8ea6b591250b
http://hdl.handle.net/10138/162501
http://hdl.handle.net/10138/162501
Autor:
Johannes Kettunen, Samuli Ripatti, Claes Ladenvall, Marjo-Riitta Järvelin, Marja-Liisa Lokki, Antti-Pekka Sarin, Juha Sinisalo, Veikko Salomaa, Efthymia Vlachopoulou, Leif Groop, Johan G. Eriksson, Olli T. Raitakari, Terho Lehtimäki, Antti Jula, Taru Tukiainen, Markus Perola, Matti Pirinen
Publikováno v:
PLoS Genetics; Vol 10
PLoS Genetics
Europe PubMed Central
PLoS Genetics; 10(2), no e1004127 (2014)
PLoS Genetics, Vol 10, Iss 2, p e1004127 (2014)
PLoS Genetics
Europe PubMed Central
PLoS Genetics; 10(2), no e1004127 (2014)
PLoS Genetics, Vol 10, Iss 2, p e1004127 (2014)
The X chromosome (chrX) represents one potential source for the “missing heritability” for complex phenotypes, which thus far has remained underanalyzed in genome-wide association studies (GWAS). Here we demonstrate the benefits of including chrX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48ea701161a2177138c772cb110126d
http://hdl.handle.net/10138/158609
http://hdl.handle.net/10138/158609
Autor:
Nelson B. Freimer, Mika Kähönen, Kirsi H. Pietiläinen, Aarno Palotie, Johannes Kettunen, Richard J. Rose, Markku J. Savolainen, Kaisa Silander, Jorma Viikari, Alfredo Ortega-Alonso, Emmi Tikkanen, Peter Würtz, Jaakko Kaprio, Leena Peltonen, Danielle M. Dick, Marjo-Riitta Järvelin, Mika Ala-Korpela, Leo-Pekka Lyytikäinen, Samuli Ripatti, Antti J. Kangas, Terho Lehtimäki, Michael Inouye, Markus Perola, Pasi Soininen, Johan G. Eriksson, Antti-Pekka Sarin, Veikko Salomaa, Olli T. Raitakari, Antti Jula, Taru Tukiainen, Mark I. McCarthy
Publikováno v:
Nature Genetics; Vol 44
Nature Genetics
Nature Genetics
Nuclear magnetic resonance assays allow for measurement of a wide range of metabolic phenotypes. We report here the results of a GWAS on 8,330 Finnish individuals genotyped and imputed at 7.7 million SNPs for a range of 216 serum metabolic phenotypes
Autor:
Beatriz Valcarcel, Taru Tukiainen, Pasi Soininen, Timothy M. D. Ebbels, Peter Würtz, Maria De Iorio, Antti J. Kangas, Marjo-Riitta Järvelin, Mika Ala-Korpela, Nafisa-Katrin Seich al Basatena
Publikováno v:
PLoS ONE; Vol 6
PLoS ONE, Vol 6, Iss 9, p e24702 (2011)
PLoS ONE
Europe PubMed Central
PLoS ONE, Vol 6, Iss 9, p e24702 (2011)
PLoS ONE
Europe PubMed Central
Background: Variations in the pattern of molecular associations are observed during disease development. The comprehensive analysis of molecular association patterns and their changes in relation to different physiological conditions can yield insigh