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Sökning: WFRF:(Uda Manuela)

  • Resultat 21-22 av 22
  • Föregående 12[3]
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21.
  • van der Harst, Pim, et al. (författare)
  • Seventy-five genetic loci influencing the human red blood cell
  • 2012
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836. ; 492:7429, s. 369-375
  • Tidskriftsartikel (refereegranskat)abstract
    • Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
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22.
  • Willer, Cristen J., et al. (författare)
  • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
  • 2009
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1546-1718. ; 41:1, s. 25-34
  • Tidskriftsartikel (refereegranskat)abstract
    • Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 x 10(-8)): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
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  • Resultat 21-22 av 22
  • Föregående 12[3]
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tidskriftsartikel (22)
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refereegranskat (22)
Författare/redaktör
Abecasis, Goncalo R. (22)
Loos, Ruth J F (22)
Uda, Manuela (22)
Wareham, Nicholas J (21)
Mohlke, Karen L (19)
Sanna, Serena (19)
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Jackson, Anne U. (19)
Collins, Francis S. (19)
Wichmann, H. Erich (18)
Schlessinger, David (18)
Stringham, Heather M ... (18)
Soranzo, Nicole (17)
Van Duijn, Cornelia ... (17)
McCarthy, Mark I (17)
Samani, Nilesh J. (17)
Barroso, Ines (17)
Groop, Leif (16)
Salomaa, Veikko (16)
Gieger, Christian (16)
Peltonen, Leena (16)
Wright, Alan F. (16)
Wilson, James F. (16)
Voight, Benjamin F. (16)
Bonnycastle, Lori L. (16)
Waeber, Gerard (16)
Boomsma, Dorret I. (15)
Uitterlinden, Andre ... (15)
Strachan, David P (15)
Vollenweider, Peter (15)
Hu, Frank B. (15)
Boehnke, Michael (15)
Shuldiner, Alan R. (15)
Jarvelin, Marjo-Riit ... (15)
Caulfield, Mark J. (15)
Zhao, Jing Hua (15)
Elliott, Paul (15)
Willer, Cristen J. (15)
Mooser, Vincent (15)
Ferrucci, Luigi (14)
Hofman, Albert (14)
Tuomilehto, Jaakko (14)
Mangino, Massimo (14)
Spector, Timothy D (14)
Munroe, Patricia B. (14)
Uda, M. (14)
McArdle, Wendy L (14)
Johnson, Toby (14)
Lindgren, Cecilia M. (14)
Weedon, Michael N (14)
Frayling, Timothy M (14)
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