Opin vísindi

Browsing by Subject "Phenotype"

Browsing by Subject "Phenotype"

Sort by: Order: Results:

  • Icon
    Characteristics of white blood cell count in acute lymphoblastic leukemia : A COST LEGEND phenotype-genotype study 
    Helenius, Marianne; Vaitkeviciene, Goda; Abrahamsson, Jonas; Jónsson, Ólafur Gisli; Lund, Bendik; Harila-Saari, Arja; Vettenranta, Kim; Mikkel, Sirje; Stanulla, Martin; Lopez-Lopez, Elixabet; Waanders, Esmé; Madsen, Hans O; Marquart, Hanne Vibeke; Modvig, Signe; Gupta, Ramneek; Schmiegelow, Kjeld; Nielsen, Rikke Linnemann (2022-03-22)
    Background: White blood cell count (WBC) as a measure of extramedullary leukemic cell survival is a well-known prognostic factor in acute lymphoblastic leukemia (ALL), but its biology, including impact of host genome variants, is poorly understood. ...
  • Icon
    Endothelial Cell Phenotypes Demonstrate Different Metabolic Patterns and Predict Mortality in Trauma Patients 
    Henriksen, Hanne H.; Marín de Mas, Igor; Nielsen, Lars K.; Krocker, Joseph; Stensballe, Jakob; Karvelsson, Sigurður T.; Secher, Niels H.; Rolfsson, Óttar; Wade, Charles E.; Johansson, Pär I. (2023-01-23)
    In trauma patients, shock-induced endotheliopathy (SHINE) is associated with a poor prognosis. We have previously identified four metabolic phenotypes in a small cohort of trauma patients (N = 20) and displayed the intracellular metabolic profile of ...
  • Icon
    Factor D Inhibition Blocks Complement Activation Induced by Mutant Factor B Associated With Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis 
    Aradottir, Sigridur Sunna; Kristoffersson, Ann Charlotte; Roumenina, Lubka T.; Bjerre, Anna; Kashioulis, Pavlos; Pálsson, Runólfur; Karpman, Diana (2021-06-10)
    Complement factor B (FB) mutant variants are associated with excessive complement activation in kidney diseases such as atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy and membranoproliferative glomerulonephritis (MPGN). Patients with aHUS ...
  • Icon
    A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome 
    DBDS Genetic Consortium (2022-03-24)
    Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy and has a largely unknown underlying biology. In a genome-wide association study of CTS (48,843 cases and 1,190,837 controls), we found 53 sequence variants at 50 loci associated ...
  • Icon
    A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis 
    DBDS Genomic Consortium; Thorsteinsdottir, Unnur (2021-02-03)
    Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = ...
  • Icon
    Large-scale plasma proteomics comparisons through genetics and disease associations 
    Eldjarn, Grimur Hjorleifsson; Ferkingstad, Egil; Lund, Sigrun H.; Helgason, Hannes; Magnusson, Olafur Th; Gunnarsdottir, Kristbjorg; Olafsdottir, Thorunn A.; Halldorsson, Bjarni V.; Olason, Pall I.; Zink, Florian; Gudjonsson, Sigurjon A.; Sveinbjornsson, Gardar; Magnusson, Magnus I.; Helgason, Agnar; Oddsson, Asmundur; Halldorsson, Gisli H.; Magnusson, Magnus K.; Sævarsdóttir, Sædís; Eiriksdottir, Thjodbjorg; Masson, Gisli; Stefansson, Hreinn; Jonsdottir, Ingileif; Holm, Hilma; Rafnar, Thorunn; Melsted, Pall; Saemundsdottir, Jona; Norddahl, Gudmundur L.; Thorleifsson, Gudmar; Ulfarsson, Magnus O.; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2023-10-04)
    High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olink Explore ...
  • Icon
    Phenotypic and genotypic variation in the subtidal gastropod Buccinum undatum 
    Magnúsdóttir, Hildur (Háskóli Íslands, 2020-10)
    Variation in morphology of shelled marine gastropods across small spatial scales may reflect restricted population connectivity, resulting in evolutionary or plastic responses to environmental heterogeneity. Species delimitation of shelled gastropods ...
  • Icon
    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Árnadóttir, Guðný Anna; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Ásmundsson, Jurate; Steffensen, Þóra Steinunn; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...
  • Icon
    Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura 
    Bjornsdottir, Gyda; Chalmer, Mona A.; Stefánsdóttir, Lilja; Skuladottir, Astros Th; Einarsson, Gudmundur; Andrésdóttir, Margrét; Beyter, Doruk; Ferkingstad, Egil; Gretarsdottir, Solveig; Halldórsson, Bjarni Vilhjálmur; Halldórsson, Gísli Hreinn; Helgadottir, Anna; Helgason, Hannes; Hjorleifsson Eldjarn, Grimur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Jónsdóttir, Ingileif; Knowlton, Kirk U.; Nadauld, Lincoln D.; Lund, Sigrún Helga; Magnusson, Olafur Th; Melsted, Páll; Moore, Kristjan H.S.; Oddsson, Asmundur; Olason, Pall I.; Sigurdsson, Asgeir; Stefansson, Olafur A.; Saemundsdottir, Jona; Sveinbjornsson, Gardar; Tragante, Vinicius; Unnsteinsdottir, Unnur; Walters, Guðmundur Bragi; Zink, Florian; Rødevand, Linn; Andreassen, Ole A.; Igland, Jannicke; Lie, Rolv T.; Haavik, Jan; Banasik, Karina; Brunak, Søren; Didriksen, Maria; T. Bruun, Mie; Erikstrup, Christian; Kogelman, Lisette J.A.; Nielsen, Kaspar R.; Sørensen, Erik; Pedersen, Ole B.; Ullum, Henrik; Bay, Jakob; Boldsen, Jens K.; Brodersen, Thorsten; Burgdorf, Kristoffer; Dinh, Khoa M.; Dowsett, Joseph; Feenstra, Bjarke; Geller, Frank; Hindhede, Lotte; Hjalgrim, Henrik; Jacobsen, Rikke L.; Jemec, Gregor; Kaspersen, Katrine; Kjerulf, Bertram D.; Larsen, Margit A.H.; Louloudis, Ioannis; Lundgaard, Agnete; Mikkelsen, Susan; Mikkelsen, Christina; Nissen, Ioanna; Nyegaard, Mette; Henriksen, Alexander P.; Rohde, Palle D.; Rostgaard, Klaus; Swinn, Michael; Thørner, Lise W.; Bruun, Mie T.; Werge, Thomas; Westergaard, David; Masson, Gisli; Þorsteinsdóttir, Unnur; Olesen, Jes; Ludvigsson, Petur; Thorarensen, Ólafur; Bjornsdottir, Anna; Sigurdardottir, Gudrun R.; Sveinsson, Ólafur Árni; Ostrowski, Sisse R.; Holm, Hilma; Gudbjartsson, Daniel F.; Thorleifsson, Gudmar; Sulem, Patrick; Stefansson, Hreinn; Thorgeirsson, Thorgeir E.; Hansen, Thomas F.; Stefánsson, Kári (2023-11)
    Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine ...
  • Icon
    A shared genetic contribution to breast cancer and schizophrenia 
    Lu, Donghao; Song, Jie; Lu, Yi; Fall, Katja; Chen, Xu; Fang, Fang; Landén, Mikael; Hultman, Christina M.; Czene, Kamila; Sullivan, Patrick; Tamimi, Rulla M.; Valdimarsdottir, Unnur (Springer Science and Business Media LLC, 2020-09-15)
    An association between schizophrenia and subsequent breast cancer has been suggested; however the risk of schizophrenia following a breast cancer is unknown. Moreover, the driving forces of the link are largely unclear. Here, we report the phenotypic ...
  • Icon
    A way forward with eco evo devo: an extended theory of resource polymorphism with postglacial fishes as model systems 
    Skúlason, Skúli; Parsons, Kevin J.; Svanbäck, Richard; Räsänen, Katja; Ferguson, Moira M.; Adams, Colin E.; Amundsen, Per‐Arne; Bartels, Pia; Bean, Colin W.; Boughman, Janette W.; Englund, Göran; Guðbrandsson, Jóhannes; Hooker, Oliver E.; Hudson, Alan G.; Kahilainen, Kimmo K.; Knudsen, Rune; Kristjánsson, Bjarni K.; Leblanc, Camille; Jónsson, Zophonías Oddur; Öhlund, Gunnar; Smith, Carl; Snorrason, Sigurður S. (Wiley, 2019-06-19)
    A major goal of evolutionary science is to understand how biological diversity is generated and altered. Despite considerable advances, we still have limited insight into how phenotypic variation arises and is sorted by natural selection. Here we argue ...