A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Autor: Solveig Gretarsdottir, Hannes Helgason, Anna Helgadottir, Asgeir Sigurdsson, Gudmar Thorleifsson, Audur Magnusdottir, Asmundur Oddsson, Valgerdur Steinthorsdottir, Thorunn Rafnar, Jacqueline de Graaf, Maryam S Daneshpour, Mehdi Hedayati, Fereidoun Azizi, Niels Grarup, Torben Jørgensen, Henrik Vestergaard, Torben Hansen, Gudmundur Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Lambertus A Kiemeney, Oluf Pedersen, Patrick Sulem, Gudmundur Thorgeirsson, Daniel F Gudbjartsson, Hilma Holm, Unnur Thorsteinsdottir, Kari Stefansson

Publikováno v: PLoS Genetics, Vol 11, Iss 9, p e1005379 (2015)

Through high coverage whole-genome sequencing and imputation of the identified variants into a large fraction of the Icelandic population, we found four independent signals in the low density lipoprotein receptor gene (LDLR) that associate with level

Externí odkaz: https://doaj.org/article/81b9ef6551104a6ab752c4a90d98d40b

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

Autor: Geir Selbæk, Daniel F. Gudbjartsson, Ina S. Almdahl, John Loughlin, Patrick Sulem, Asmundur Oddson, Unnur Thorsteinsdottir, Gudmundur L. Norddahl, Gisli Masson, Maryam S. Daneshpour, Jose I. Mayordomo, Helgi Jonsson, Lambertus A. Kiemeney, Thorunn Rafnar, Peter S. Braund, Solveig Gretarsdottir, Amanda Villalvilla, Jung Min Koh, Farhad Hosseinpanah, Anne Brækhus, Hannes Helgason, Nilesh J. Samani, Augustine Kong, Asgeir Sigurdsson, Unnur Styrkarsdottir, Hrefna Johannsdottir, Tormod Fladby, Louise N. Reynard, Hreinn Stefansson, Olafur Th Magnusson, Agnar Helgason, Gisli H. Halldorsson, Nelson L.S. Tang, Audur Magnusdottir, Florian Zink, Thorvaldur Ingvarsson, L. Stefan Lohmander, Gardar Sveinbjornsson, Arna B Agustsdottir, Ingileif Jonsdottir, Kari Stefansson, Anna Helgadottir, Aslaug Jonasdottir, Gerald Sulem, Corrine K. Welt, Claus Christiansen, Fereidoun Azizi, Ole A. Andreassen

Publikováno v: Nature Genetics, 49, 5, pp. 801-805
Nature Genetics, 49, 801-805

Contains fulltext : 174179.pdf (Publisher’s version ) (Closed access) We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::715fac7365dcc01cc68c7e08974826f0
https://doi.org/10.1038/ng.3816

A rare missense mutation inMYH6confers high risk of coarctation of the aorta

Autor: Daniel F. Gudbjartsson, Engilbert Sigurdsson, Gardar Sveinbjornsson, Gudmundur L. Norddahl, Solveig Gretarsdottir, Tomas Gudbjartsson, Thorsteinn Bjornsson, Unnur Thorsteinsdottir, David O Arnar, Ingileif Jonsdottir, Berglind Adalsteinsdottir, Kari Stefansson, Patrick Sulem, Hrodmar Helgason, Audur Magnusdottir, Rosa B. Thorolfsdottir, Anna Helgadottir, Ragnar Danielsen, Hilma Holm, Sverrir I. Gunnarsson

Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and carries substantial morbidity despite treatment1. We performed a genome-wide association study (GWAS) of CoA among 120 Icelandic cases and 355,166 controls and fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e53748360189952a1133b2d894427bc2
https://doi.org/10.1101/180794

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

Autor: Daniel F. Gudbjartsson, Gisli Masson, Riyaz S. Patel, Nilesh J. Samani, Alistair S. Hall, Torben Hansen, Andre M. van Rij, Christopher P. Nelson, Svati H. Shah, William E. Kraus, Isleifur Olafsson, Audur Magnusdottir, Mogens Fenger, Gregory T. Jones, Arna B Agustsdottir, Paul Nioi, Gudmundur I. Eyjolfsson, Asgeir Sigurdsson, Ulrik Abildgaard, Thorunn Rafnar, Peter Riis Hansen, Daniel J. Rader, Hannes Helgason, Gudmundur L. Norddahl, Dorine W. Swinkels, Patrick Sulem, Tessel E. Galesloot, Torsten Lauritzen, Unnur Thorsteinsdottir, Kari Stefansson, Henrik Vestergaard, Hilma Holm, Muredach P. Reilly, Anna Helgadottir, Lambertus A. Kiemeney, Olof Sigurdardottir, Allan Linneberg, Nele Friedrich, Arshed A. Quyyumi, Peter S. Braund, Allan I Levey, Aslaug Jonasdottir, Michael J.A. Williams, Niels Grarup, Gudmundur Thorgeirsson, Valgerdur Steinthorsdottir, Torben Jørgensen, Nikolaj T. Krarup, Oluf Pedersen, Gudmar Thorleifsson, Salim S. Hayek, Solveig Gretarsdottir, Ingileif Jonsdottir, Anders Galløe

Publikováno v: The New England Journal of Medicine, 374, 22, pp. 2131-41
The New England Journal of Medicine, 374, 2131-41
Nioi, P, Sigurdsson, A, Thorleifsson, G, Helgason, H, Agustsdottir, A B, Norddahl, G L, Helgadottir, A, Magnusdottir, A, Jonasdottir, A, Grétarsdóttir, S, Jonsdottir, I, Steinthorsdottir, V, Rafnar, T, Swinkels, D W, Galesloot, T E, Grarup, N, Jørgensen, T, Vestergaard, H, Hansen, T, Lauritzen, T, Linneberg, A, Friedrich, N, Krarup, N T, Fenger, M, Abildgaard, U, Hansen, P R, Galløe, A M, Braund, P S, Nelson, C P, Hall, A S, Williams, M J A, van Rij, A M, Jones, G T, Patel, S R, Levey, A I, Hayek, S, Shah, S H, Reilly, M, Eyjolfsson, G I, Sigurdardottir, O, Olafsson, I, Kiemeney, L A, Quyyumi, A A, Rader, D J, Kraus, W E, Samani, N J, Pedersen, O, Thorgeirsson, G, Masson, G, Holm, H, Gudbjartsson, D F, Sulem, P, Thorsteinsdottir, U & Stefansson, K 2016, ' Variant ASGR1 associated with a reduced risk of coronary artery disease ', The New England Journal of Medicine, vol. 374, no. 22, pp. 2131-2141 . https://doi.org/10.1056/NEJMoa1508419
Nioi, P, Sigurdsson, A S, Thorleifsson, G, Helgason, H, Agustsdottir, A B, Norddahl, G L, Helgadottir, A, Magnúsdóttir, A, Jonasdottir, A, Grétarsdóttir, S, Jónsdóttir, I S, Steinthorsdottir, V, Rafnar, T, Swinkels, D W, Galesloot, T E, Grarup, N, Jorgensen, T, Vestergaard, H, Hansen, T, Lauritzen, T, Linneberg, A, Friedrich, N, Krarup, N T, Fenger, M, Abildgaard, U, Hansen, P R, Galloe, A M, Braund, P S, Nelson, C P, Hall, A S, Williams, M J A, van Rij, A M, Jones, G T, Patel, S R, Levey, A I, Hayek, S, Shah, S H, Reilly, M M, Eyjolfsson, G I, Sigurdardottir, O, Olafsson, I, Kiemeney, L A, Quyyumi, A A, Rader, D J, Kraus, W E, Samani, N J, Pedersen, O, Thorgeirsson, G, Masson, G, Holm, H, Gudbjartsson, D F, Sulem, P, Thorsteinsdottir, U & Stefansson, K 2016, ' Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease ', The New England Journal of Medicine, vol. 374, no. 22, pp. 2131-2141 . https://doi.org/10.1056/NEJMoa1508419
Nioi, P, Sigurdsson, A, Thorleifsson, G, Helgason, H, Agustsdottir, A B, Norddahl, G L, Helgadottir, A, Magnusdottir, A, Jonasdottir, A, Gretarsdottir, S, Jonsdottir, I, Steinthorsdottir, V, Rafnar, T, Swinkels, D W, Galesloot, T E, Grarup, N, Jørgensen, T, Vestergaard, H, Hansen, T, Lauritzen, T, Linneberg, A, Friedrich, N, Krarup, N T, Fenger, M, Abildgaard, U, Hansen, P R, Galløe, A M, Braund, P S, Nelson, C P, Hall, A S, Williams, M J A, van Rij, A M, Jones, G T, Patel, R S, Levey, A I, Hayek, S, Shah, S H, Reilly, M, Eyjolfsson, G I, Sigurdardottir, O, Olafsson, I, Kiemeney, L A, Quyyumi, A A, Rader, D J, Kraus, W E, Samani, N J, Pedersen, O, Thorgeirsson, G, Masson, G, Holm, H, Gudbjartsson, D, Sulem, P, Thorsteinsdottir, U & Stefansson, K 2016, ' Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease ', The New England Journal of Medicine, vol. 374, no. 22, pp. 2131-2141 . https://doi.org/10.1056/NEJMoa1508419

BACKGROUNDSeveral sequence variants are known to have effects on serum levels of non-high-density lipoprotein (HDL) cholesterol that alter the risk of coronary artery disease.METHODSWe sequenced the genomes of 2636 Icelanders and found variants that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8477856a4eaec7734e261bdbd7c19eed
https://hdl.handle.net/2066/171918

The structure of the PP2A regulatory subunit B56γ: The remaining piece of the PP2A jigsaw puzzle

Autor: T. Kotenyova, Pär Nordlund, Tomas Nyman, Pål Stenmark, Audur Magnusdottir, Susanne Gräslund, D. Ogg, Susanne Flodin

Publikováno v: Proteins: Structure, Function, and Bioinformatics. 74:212-221

The PP2A serine/threonine phosphatase regulates a plethora of cellular processes. In the cell the predominant form of the enzyme is a heterotrimer, formed by a core dimer composed of a catalytic and a scaffolding subunit, which assemble together with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::542610454974dba1e615912c9198e5cf
https://doi.org/10.1002/prot.22150