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Träfflista för sökning "WFRF:(Carracedo A) "

Search: WFRF:(Carracedo A)

  • Result 1-10 of 93
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1.
  • Kanai, M, et al. (author)
  • 2023
  • swepub:Mat__t
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2.
  • Niemi, MEK, et al. (author)
  • 2021
  • swepub:Mat__t
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3.
  • de Rojas, I., et al. (author)
  • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
  • 2021
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
  • Journal article (peer-reviewed)abstract
    • Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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5.
  • Arking, D. E., et al. (author)
  • Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
  • 2014
  • In: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:8, s. 826-836
  • Journal article (peer-reviewed)abstract
    • 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.
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  • Result 1-10 of 93
Type of publication
journal article (85)
conference paper (4)
other publication (1)
book chapter (1)
Type of content
peer-reviewed (82)
other academic/artistic (9)
Author/Editor
Carracedo, A (35)
Sagués Carracedo, An ... (12)
Carracedo, M (12)
Carracedo, J.C. (12)
Giles, GG (11)
Back, M (11)
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Lindblom, A (10)
Southey, MC (10)
Troll, Valentin (10)
Brenner, H (9)
Castellvi-Bel, S (9)
Bulla, Mattia (9)
Nothen, MM (9)
Cox, A (9)
Kool, Erik C. (8)
Sollerman, Jesper (8)
Hoffmann, P (8)
Tomlinson, I (8)
Dunning, AM (8)
Nordestgaard, BG (8)
Chang-Claude, J (8)
Ramirez, A (8)
Franco-Cereceda, A (8)
Lleó, A. (8)
Carracedo, Angel (8)
de Rojas, I (8)
Marshall, R. (7)
Ruiz, A. (7)
Djurovic, S (7)
Dennis, J (7)
Boada, M. (7)
Wang, Q. (7)
Hall, P (7)
Czene, K (7)
Castells, A (7)
Peterlongo, P (7)
Ruiz-Ponte, C (7)
Bolla, MK (7)
Hopper, JL (7)
Shah, M (7)
Beckmann, MW (7)
Chanock, SJ (7)
Easton, DF (7)
Campbell, H (7)
Gago-Dominguez, M. (7)
Gill, M. (7)
Buxbaum, JD (7)
Scarpini, E (7)
Perez-Torrado, F.J. (7)
Castelao, JE (7)
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University
Karolinska Institutet (51)
Uppsala University (33)
Stockholm University (21)
Lund University (9)
Royal Institute of Technology (6)
University of Gothenburg (4)
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Umeå University (2)
Mälardalen University (1)
Jönköping University (1)
Högskolan Dalarna (1)
Swedish University of Agricultural Sciences (1)
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Language
English (91)
Spanish (2)
Research subject (UKÄ/SCB)
Natural sciences (36)
Medical and Health Sciences (22)
Engineering and Technology (1)

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