Sökning: onr:"swepub:oai:gup.ub.gu.se/214196" > Genetic association...
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000 | 14285naa a2203589 4500 | |
001 | oai:gup.ub.gu.se/214196 | |
003 | SwePub | |
008 | 240528s2014 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:ea57a208-834a-4116-8857-b3189095e062 | |
009 | oai:DiVA.org:uu-230151 | |
009 | oai:prod.swepub.kib.ki.se:129508646 | |
009 | oai:DiVA.org:du-21327 | |
024 | 7 | a https://gup.ub.gu.se/publication/2141962 URI |
024 | 7 | a https://doi.org/10.1038/ng.30142 DOI |
024 | 7 | a https://lup.lub.lu.se/record/45271382 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2301512 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1295086462 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:du-213272 URI |
040 | a (SwePub)gud (SwePub)lud (SwePub)uud (SwePub)kid (SwePub)du | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Arking, D. E.4 aut |
245 | 1 0 | a Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization |
264 | c 2014-06-22 | |
264 | 1 | b Nature Publishing Group,c 2014 |
520 | a The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼ 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD. © 2014 Nature America, Inc. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kardiologi0 (SwePub)302062 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cardiac and Cardiovascular Systems0 (SwePub)302062 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng |
653 | a calcium | |
653 | a protein | |
653 | a adult | |
653 | a article | |
653 | a calcium signaling | |
653 | a cardiovascular risk | |
653 | a controlled study | |
653 | a female | |
653 | a gene expression | |
653 | a genetic association | |
653 | a genetic variability | |
653 | a genotype | |
653 | a heart electrophysiology | |
653 | a heart repolarization | |
653 | a heart ventricle arrhythmia | |
653 | a human | |
653 | a long QT syndrome | |
653 | a major clinical study | |
653 | a male | |
653 | a mutational analysis | |
653 | a phenotype | |
653 | a priority journal | |
653 | a protein protein interaction | |
653 | a QT interval | |
653 | a QT prolongation | |
653 | a replication study | |
653 | a single nucleotide polymorphism | |
653 | a sudden cardiac death | |
653 | a Hälsa och välfärd | |
700 | 1 | a Lind, Larsu Uppsala universitet,Kardiovaskulär epidemiologi4 aut0 (Swepub:uu)larslind |
700 | 1 | a Crotti, L.4 aut |
700 | 1 | a van der Harst, P.4 aut |
700 | 1 | a Munroe, P. B.4 aut |
700 | 1 | a Koopmann, T. T.4 aut |
700 | 1 | a Sotoodehnia, N.4 aut |
700 | 1 | a Rossin, E. J.4 aut |
700 | 1 | a Morley, M.u Uppsala universitet,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Wang, X.4 aut |
700 | 1 | a Johnson, A. D.4 aut |
700 | 1 | a Lundby, A.4 aut |
700 | 1 | a Gudbjartsson, D. F.4 aut |
700 | 1 | a Noseworthy, P. A.4 aut |
700 | 1 | a Eijgelsheim, M.4 aut |
700 | 1 | a Bradford, Y.4 aut |
700 | 1 | a Tarasov, K. V.4 aut |
700 | 1 | a Dörr, M.4 aut |
700 | 1 | a Müller-Nurasyid, M.4 aut |
700 | 1 | a Lahtinen, A. M.4 aut |
700 | 1 | a Nolte, I. M.4 aut |
700 | 1 | a Smith, A. V.4 aut |
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700 | 1 | a Waggott, D.4 aut |
700 | 1 | a Lyytikäinen, L. P.4 aut |
700 | 1 | a Hicks, A. A.4 aut |
700 | 1 | a Eisele, L.4 aut |
700 | 1 | a Ellinghaus, D.4 aut |
700 | 1 | a Hayward, C.4 aut |
700 | 1 | a Navarro, P.4 aut |
700 | 1 | a Ulivi, S.4 aut |
700 | 1 | a Tanaka, T.4 aut |
700 | 1 | a Tester, D. J.4 aut |
700 | 1 | a Chatel, S.4 aut |
700 | 1 | a Gustafsson, Stefanu Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)stegu732 |
700 | 1 | a Kumari, M.4 aut |
700 | 1 | a Morris, R. W.4 aut |
700 | 1 | a Torinsson Naluai, Åsa,d 1968u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics4 aut0 (Swepub:gu)xnalas |
700 | 1 | a Padmanabhan, S.4 aut |
700 | 1 | a Kluttig, A.4 aut |
700 | 1 | a Strohmer, B.u Uppsala universitet,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Panayiotou, A. G.4 aut |
700 | 1 | a Torres, M.4 aut |
700 | 1 | a Knoflach, M.4 aut |
700 | 1 | a Ärnlöv, Johanu Högskolan Dalarna,Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab,Medicinsk vetenskap4 aut0 (Swepub:du)jan |
700 | 1 | a Slowikowski, K.4 aut |
700 | 1 | a Raychaudhuri, S.4 aut |
700 | 1 | a Kumar, R. D.4 aut |
700 | 1 | a Harris, T. B.4 aut |
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700 | 1 | a Alonso, A.4 aut |
700 | 1 | a Bader, J. S.4 aut |
700 | 1 | a Ehret, G.4 aut |
700 | 1 | a Huang, H.u Uppsala universitet,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Kao, W. H. L.4 aut |
700 | 1 | a Strait, J. B.4 aut |
700 | 1 | a Macfarlane, P. W.4 aut |
700 | 1 | a Brown, M.4 aut |
700 | 1 | a Caulfield, M. J.4 aut |
700 | 1 | a Samani, N. J.4 aut |
700 | 1 | a Kronenberg, F.4 aut |
700 | 1 | a Willeit, J.4 aut |
700 | 1 | a Smith, Gustavu Lund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-gvs |
700 | 1 | a Greiser, K. H.4 aut |
700 | 1 | a Zu Schwabedissen, H. M.4 aut |
700 | 1 | a Werdan, K.4 aut |
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700 | 1 | a D'Adamo, A. P.4 aut |
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700 | 1 | a Sinagra, G.4 aut |
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700 | 1 | a Marjamaa, A.4 aut |
700 | 1 | a Oikarinen, L.4 aut |
700 | 1 | a Perola, M.4 aut |
700 | 1 | a Porthan, K.u Uppsala universitet,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Erbel, R.4 aut |
700 | 1 | a Hoffmann, P.4 aut |
700 | 1 | a Jöckel, K. H.4 aut |
700 | 1 | a Kälsch, H.4 aut |
700 | 1 | a Nöthen, M. M.4 aut |
700 | 1 | a Den Hoed, M.4 aut |
700 | 1 | a Loos, R. J. F.4 aut |
700 | 1 | a Thelle, Dag,d 1942u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa,Institute of Medicine, School of Public Health and Community Medicine4 aut0 (Swepub:gu)xtheda |
700 | 1 | a Gieger, C.4 aut |
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700 | 1 | a Perz, S.4 aut |
700 | 1 | a Peters, A.4 aut |
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700 | 1 | a Waldenberger, M.4 aut |
700 | 1 | a de Boer, R. A.4 aut |
700 | 1 | a Franke, L.4 aut |
700 | 1 | a Van Der Vleuten, P. A.4 aut |
700 | 1 | a Beckmann, B. M.4 aut |
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700 | 1 | a Probst, V.4 aut |
700 | 1 | a Ghidoni, A.u Uppsala universitet,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Insolia, R.4 aut |
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700 | 1 | a Kellis, M.4 aut |
700 | 1 | a Krijthe, B. P.4 aut |
700 | 1 | a Franco, O. H.4 aut |
700 | 1 | a Hofman, A.u Uppsala universitet,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Kors, J. A.4 aut |
700 | 1 | a Uitterlinden, A. G.4 aut |
700 | 1 | a Witteman, J. C. M.4 aut |
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700 | 1 | a Whincup, P. H.4 aut |
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700 | 1 | a de Bakker, P. I. W.4 aut |
700 | 1 | a Newton-Cheh, C.4 aut |
700 | 1 | a Fabiola, NN4 aut |
710 | 2 | a Uppsala universitetb Kardiovaskulär epidemiologi4 org |
773 | 0 | t Nature Geneticsd : Nature Publishing Groupg 46:8, s. 826-836q 46:8<826-836x 1061-4036x 1546-1718 |
856 | 4 | u https://europepmc.org/articles/pmc4124521?pdf=render |
856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/24952745?dopt=Abstracty FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1038/ng.3014y FULLTEXT |
856 | 4 8 | u https://gup.ub.gu.se/publication/214196 |
856 | 4 8 | u https://doi.org/10.1038/ng.3014 |
856 | 4 8 | u https://lup.lub.lu.se/record/4527138 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-230151 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:129508646 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:du-21327 |
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