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Browsing by Subject "Lífefna- og sameindalíffræði"

Browsing by Subject "Lífefna- og sameindalíffræði"

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  • Hernandes, Vinicius Verri; Dordevic, Nikola; Hantikainen, Essi Marjatta; Sigurðsson, Baldur Bragi; Smárason, Sigurður Vidir; Garcia-Larsen, Vanessa; Gögele, Martin; Caprioli, Giulia; Bozzolan, Ilaria; Pramstaller, Peter P.; Rainer, Johannes (2022-03)
    Metabolomics in human serum samples provide a snapshot of the current metabolic state of an individuum. Metabolite concentrations are influenced by both genetic and environmental factors. Concentrations of certain metabolites can further depend on age, ...
  • Högnason, Hákon Björn; Stefánsdóttir, Vigdís Fjóla; Þórólfsdóttir, Eirný Þöll; Jónsson, Jón Jóhannes; Björnsson, Hans Tómas (2022-01)
    INNGANGUR Formleg erfðaráðgjafareining hefur verið starfrækt á Landspítala við Hringbraut frá árinu 2006. Samhliða hefur áhugi og þörf á erfðalæknisfræði í almennri heilbrigðisþjónustu aukist til muna. Í þessari grein er starfsemi og útkoma erfðarannsókna ...
  • Long, Þórir Einarsson; Indridason, Ólafur Skúli; Pálsson, Runólfur; Rögnvaldsson, Sæmundur; Löve, Þorvarður Jón; Thorsteinsdóttir, Sigrún; Sverrisdottir, Ingigerdur; Vidarsson, Brynjar; Önundarson, Páll Torfi; Agnarsson, Bjarni Agnar; Sigurðardóttir, Margrét; Thorsteinsdottir, Ingunn; Ólafsson, Ísleifur; Thordardottir, Asdis Rosa; Eythorsson, E.; Jónsson, Ásbjörn; Gíslason, Gauti Kjartan; Ólafsson, Andri; Steingrímsdóttir, Hlíf; Hultcrantz, Malin; Durie, Brian G.M.; Harding, Stephen; Landgren, Ola; Kristinsson, Sigurður Yngvi (2022-09-14)
    Serum free light chain (FLC) concentration is greatly affected by kidney function. Using a large prospective population-based cohort, we aimed to establish a reference interval for FLCs in persons with chronic kidney disease (CKD). A total of 75422 ...
  • Lifelines Cohort Study; DiscovEHR/MyCode study; VA Million Veteran Program (2022-12)
    Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based ...
  • Agnarsdóttir, Dagbjört; Sigurjónsdóttir, Vaka Kristín; Emilsdóttir, Arna Rut; Petersen, Erna; Sigfússon, Gunnlaugur; Rögnvaldsson, Ingólfur; Franzson, Leifur; Vernon, Hilary; Bjornsson, Hans Tomas (2022-07)
    Background: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder ...
  • Oskarsson, Gudjon R.; Magnusson, Magnus K.; Oddsson, Asmundur; Jensson, Brynjar O.; Fridriksdottir, Run; Arnadottir, Gudny A.; Katrinardottir, Hildigunnur; Rognvaldsson, Solvi; Halldorsson, Gisli H.; Sveinbjornsson, Gardar; Ivarsdottir, Erna V.; Stefansdottir, Lilja; Ferkingstad, Egil; Norland, Kristjan; Tragante, Vinicius; Saemundsdottir, Jona; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Sigurjonsdottir, Svanhvit; Petursdottir, Karen O.; Davidsson, Olafur B.; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Vidarsson, Brynjar; Sigurdardottir, Olof; Masson, Gisli; Gudbjartsson, Daniel F.; Jonsdottir, Ingileif; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2022-06)
    The characteristic lobulated nuclear morphology of granulocytes is partially determined by composition of nuclear envelope proteins. Abnormal nuclear morphology is primarily observed as an increased number of hypolobulated immature neutrophils, called ...
  • Olafsdottir, Thorunn A; Bjarnadottir, Kristbjorg; Norddahl, Gudmundur L.; Halldórsson, Gísli Hreinn; Melsted, Páll; Gunnarsdottir, Kristbjorg; Ivarsdottir, Erna; Olafsdottir, Thorhildur; Arnthorsson, Asgeir O; Theodors, Fannar; Eyþórsson, Elías Sæbjörn; Helgason, Dadi; Eggertsson, Hannes P.; Masson, Gisli; Bjarnadottir, Solveig; Sævarsdóttir, Sædís; Runólfsdóttir, Hrafnhildur L.; Ólafsson, Ísleifur; Saemundsdottir, Jona; Sigurdsson, Martin I; Ingvarsson, Ragnar Freyr; Pálsson, Runólfur; Thorgeirsson, Gudmundur; Halldórsson, Bjarni Vilhjálmur; Holm, Hilma; Kristjánsson, Már; Sulem, Patrick; Þorsteinsdóttir, Unnur; Jónsdóttir, Ingileif; Gudbjartsson, Daniel F; Stefansson, Kari (2022-12)
    Memory T-cell responses following SARS-CoV-2 infection have been extensively investigated but many studies have been small with a limited range of disease severity. Here we analyze SARS-CoV-2 reactive T-cell responses in 768 convalescent SARS-CoV-2-infected ...
  • López García de Lomana, Adrián; Vilhjálmsson, Arnar Ingi; McGarrity, Sarah; Sigurðardóttir, Rósa; Anuforo, Ósk; Viktorsdóttir, Alexía Rós; Kotronoulas, Aris; Bergmann, Andreas; Franzson, Leifur; Halldórsson, Haraldur; Henriksen, Hanne H.; Wade, Charles E.; Johansson, Pär Ingemar; Rolfsson, Óttar (2022-03)
    Disruption to endothelial cell homeostasis results in an extensive variety of human pathologies that are particularly relevant to major trauma. Circulating catecholamines, such as adrenaline and noradrenaline, activate endothelial adrenergic receptors ...
  • Reynisdottir, Tinna; Anderson, Kimberley Jade; Boukas, Leandros; Bjornsson, Hans Tomas (2022-06-21)
    Wiedemann-Steiner syndrome (WDSTS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WDSTS, we examined the spatial ...
  • Arnadottir, Gudny A.; 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.; Asmundsson, Jurate; Steffensen, Thora; 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.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (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 ...
  • DBDS Genetic Consortium (2022-07-28)
    Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relationship ...
  • Zheng, Shijie C.; Stein-O’Brien, Genevieve; Augustin, Jonathan J.; Slosberg, Jared; Carosso, Giovanni A.; Winer, Briana; Shin, Gloria; Bjornsson, Hans T.; Goff, Loyal A.; Hansen, Kasper D. (2022-01)
    Background: The cell cycle is a highly conserved, continuous process which controls faithful replication and division of cells. Single-cell technologies have enabled increasingly precise measurements of the cell cycle both as a biological process of ...