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Träfflista för sökning "WFRF:(Majid A) srt2:(2010-2014)"

Search: WFRF:(Majid A) > (2010-2014)

  • Result 1-10 of 42
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  • Crosby, Jacy, et al. (author)
  • Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
  • 2014
  • In: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 371:1, s. 22-31
  • Journal article (peer-reviewed)abstract
    • Background Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype. Methods We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the Exome Sequencing Project. We conducted tests to determine whether rare mutations in coding sequence, individually or in aggregate within a gene, were associated with plasma triglyceride levels. For mutations associated with triglyceride levels, we subsequently evaluated their association with the risk of coronary heart disease in 110,970 persons. Results An aggregate of rare mutations in the gene encoding apolipoprotein C3 (APOC3) was associated with lower plasma triglyceride levels. Among the four mutations that drove this result, three were loss-of-function mutations: a nonsense mutation (R19X) and two splice-site mutations (IVS2+1G -> A and IVS3+1G -> T). The fourth was a missense mutation (A43T). Approximately 1 in 150 persons in the study was a heterozygous carrier of at least one of these four mutations. Triglyceride levels in the carriers were 39% lower than levels in noncarriers (P<1x10(-20)), and circulating levels of APOC3 in carriers were 46% lower than levels in noncarriers (P = 8x10(-10)). The risk of coronary heart disease among 498 carriers of any rare APOC3 mutation was 40% lower than the risk among 110,472 noncarriers (odds ratio, 0.60; 95% confidence interval, 0.47 to 0.75; P = 4x10(-6)). Conclusions Rare mutations that disrupt APOC3 function were associated with lower levels of plasma triglycerides and APOC3. Carriers of these mutations were found to have a reduced risk of coronary heart disease. (Funded by the National Heart, Lung, and Blood Institute and others.)
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  • Mohseni, Seyed Majid, et al. (author)
  • Spin Torque-Generated Magnetic Droplet Solitons
  • 2013
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 339:6125, s. 1295-1298
  • Journal article (peer-reviewed)abstract
    • Dissipative solitons have been reported in a wide range of nonlinear systems, but the observation of their magnetic analog has been experimentally challenging. Using spin transfer torque underneath a nanocontact on a magnetic thin film with perpendicular magnetic anisotropy (PMA), we have observed the generation of dissipative magnetic droplet solitons and report on their rich dynamical properties. Micromagnetic simulations identify a wide range of automodulation frequencies, including droplet oscillatory motion, droplet "spinning," and droplet "breather" states. The droplet can be controlled by using both current and magnetic fields and is expected to have applications in spintronics, magnonics, and PMA-based domain-wall devices.
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  • Stitziel, Nathan O, et al. (author)
  • Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.
  • 2013
  • In: Arteriosclerosis, Thrombosis and Vascular Biology. - 1524-4636. ; 33:12, s. 2909-2914
  • Journal article (peer-reviewed)abstract
    • Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.
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  • Result 1-10 of 42
Type of publication
journal article (32)
conference paper (8)
doctoral thesis (1)
patent (1)
Type of content
peer-reviewed (39)
other academic/artistic (2)
pop. science, debate, etc. (1)
Author/Editor
Crespo, Gaston A., 1 ... (16)
Bakker, Eric (16)
Afshar, Majid Ghahra ... (14)
Zheng, Li-Rong (6)
Baghaei Nejad, Majid (6)
Dumas, Randy K. (5)
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Mohseni, Seyed Majid (4)
Xie, Xiaojiang (3)
Dorokhin, Denis (3)
Farzadfar, Farshad (3)
Åkerman, Johan, 1970 (3)
Iacocca, Ezio, 1986 (3)
Zou, Zhuo (3)
Jarolimova, Zdenka (3)
Chung, Sunjae (3)
Danaei, Goodarz (3)
Ezzati, Majid (3)
Redjai Sani, Sohrab (3)
Persson, J. (2)
Melander, Olle (2)
Eklund, A (2)
Neel, Bastien (2)
Auer, Paul L. (2)
Orho-Melander, Marju (2)
Åkerman, Johan (2)
Samani, Nilesh J. (2)
Vandenbosch, Guy A. ... (2)
Farrall, Martin (2)
Kooperberg, Charles (2)
Peloso, Gina M. (2)
Skoglund, Mikael (2)
Altshuler, David (2)
Kathiresan, Sekar (2)
Lange, Leslie A. (2)
Schunkert, Heribert (2)
Watkins, Hugh (2)
Erdmann, Jeanette (2)
Martinelli, Nicola (2)
Duga, Stefano (2)
Girelli, Domenico (2)
Radiom, Soheil (2)
Cuartero, Maria (2)
Ardissino, Diego (2)
Goel, Anuj (2)
Stevens, Gretchen A. (2)
Lu, Yuan (2)
Zaidi, Ali A. (2)
Muduli Kishor, Prana ... (2)
Stitziel, Nathan O. (2)
Pogoryelov, Yevgen, ... (2)
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University
Royal Institute of Technology (34)
University of Gothenburg (6)
Karolinska Institutet (4)
Uppsala University (3)
Chalmers University of Technology (3)
Lund University (2)
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Umeå University (1)
Luleå University of Technology (1)
Högskolan Dalarna (1)
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Language
English (42)
Research subject (UKÄ/SCB)
Natural sciences (25)
Engineering and Technology (10)
Medical and Health Sciences (3)

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