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Browsing by Subject "Genetics"

Browsing by Subject "Genetics"

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  • Runólfsdóttir, Hrafnhildur L.; Sayer, John A.; Indridason, Olafur S.; Eðvarðsson, Viðar Örn; Jensson, Brynjar O.; Arnadottir, Gudny A.; Gudjonsson, Sigurjon A.; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari; Pálsson, Runólfur (2021-03-11)
    Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, ...
  • Palsson, Arnar; Gibson, Greg (Genetics Society of America, 2004-07-01)
    As part of an effort to dissect quantitative trait locus effects to the nucleotide level, association was assessed between 238 single-nucleotide and 20 indel polymorphisms spread over 11 kb of the Drosophila melanogaster Egfr locus and nine relative ...
  • Harðardóttir, Ingibjörg; Anderson, Kimberley Jade; Ósvaldsdóttir, Árný Björg; Atzinger, Birgit; Traustadóttir, Gunnhildur Ásta; Jensen, Kirstine Nolling; Lárusdóttir, Aðalheiður Elín; Bergþórsson, Jón Þór; Magnúsdóttir, Erna (2020-07-09)
    Waldenström’s macroglobulinemia (WM) is a non-Hodgkin lymphoma, resulting in antibody-secreting lymphoplasmacytic cells in the bone marrow and pathologies resulting from high levels of monoclonal immunoglobulin M (IgM) in the blood. Despite the key ...
  • Pardal, Sara; Drews, Anna; Alves, Jose; Ramos, Jaime A.; Westerdahl, Helena (Springer Nature, 2017-05-23)
    The major histocompatibility complex (MHC) encodes proteins that are central for antigen presentation and pathogen elimination. MHC class I (MHC-I) genes have attracted a great deal of interest among researchers in ecology and evolution and have been ...
  • Smid, Marcel; Wilting, Saskia M.; Uhr, Katharina; Rodríguez-González, F. Germán; de Weerd, Vanja; Prager-Van der Smissen, Wendy J.C.; van der Vlugt-Daane, Michelle; van Galen, Anne; Nik-Zainal, Serena; Butler, Adam; Martin, Sancha; Davies, Helen R.; Staaf, Johan; van de Vijver, Marc J.; Richardson, Andrea L.; MacGrogan, Gaëten; Salgado, Roberto; van den Eynden, Gert G.G.M.; Purdie, Colin A.; Thompson, Alastair M.; Caldas, Carlos; Span, Paul N.; Sweep, Fred C.G.J.; Simpson, Peter T.; Lakhani, Sunil R.; Van Laere, Steven; Desmedt, Christine; Paradiso, Angelo; Eyfjörð, Jórunn Erla; Broeks, Annegien; Vincent-Salomon, Anne; Futreal, Andrew P.; Knappskog, Stian; King, Tari; Viari, Alain; Børresen-Dale, Anne-Lise; Stunnenberg, Hendrik G.; Stratton, Mike; Foekens, John A.; Sieuwerts, Anieta M.; Martens, John W.M. (Cold Spring Harbor Laboratory, 2019-01-28)
    Circular RNAs (circRNAs) are a class of RNAs that is under increasing scrutiny, although their functional roles are debated. We analyzed RNA-seq data of 348 primary breast cancers and developed a method to identify circRNAs that does not rely on unmapped ...
  • Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Björnsson, Hans Tómas; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth (2021-07)
    Purpose: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Methods: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. Results: ...
  • Boukas, Leandros; Havrilla, James M.; Hickey, Peter F.; Quinlan, Aaron R.; Bjornsson, Hans; Hansen, Kasper D. (Cold Spring Harbor Laboratory, 2019-03-11)
    Coding variants in epigenetic regulators are emerging as causes of neurological dysfunction and cancer. However, a comprehensive effort to identify disease candidates within the human epigenetic machinery (EM) has not been performed; it is unclear ...
  • Hyun, Jason C.; Monk, Jonathan; Pálsson, Bernhard Örn (2022-01-04)
    Background: With the exponential growth of publicly available genome sequences, pangenome analyses have provided increasingly complete pictures of genetic diversity for many microbial species. However, relatively few studies have scaled beyond single ...
  • Jensson, Brynjar Örn; Hansdottir, Sif; Arnadottir, Gudny; Sulem, Gerald; Kristjansson, Ragnar; Oddsson, Asmundur; Benonisdottir, Stefania; Jónsson, Hákon; Helgason, Agnar; Sæmundsdóttir, Jóna; Magnússon, Ólafur T.; Másson, Gísli; Thorisson, Gudmundur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Jonsdottir, Ingileif; Pétursdóttir, Vigdís; Kristinsson, Jón R.; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; sulem, patrick; Guðmundsson, Gunnar; Stefansson, Kari (Springer Nature, 2017-11-14)
    Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case ...
  • Barkovskaya, Anna; Goodwin, Craig M.; Seip, Kotryna; Hilmarsdottir, Bylgja; Pettersen, Solveig; Stalnecker, Clint; Engebraaten, Olav; Briem, Eirikur; Der, Channing J.; Moestue, Siver A.; Gudjonsson, Thorarinn; Mælandsmo, Gunhild M.; Prasmickaite, Lina (2021-05-01)
    Cellular phenotype plasticity between the epithelial and mesenchymal states has been linked to metastasis and heterogeneous responses to cancer therapy, and remains a challenge for the treatment of triple-negative breast cancer (TNBC). Here, we used ...
  • Guðbrandsson, Jóhannes; Pashay Ahi, Ehsan; Franzdottir, Sigridur Rut; Kapralova, Kalina; Kristjansson, Bjarni K.; Steinhäuser, Sophie S.; Maier, Valerie H.; Johannesson, Isak M.; Snorrason, Sigurður S.; Jonsson, Zophonias O.; Palsson, Arnar (F1000 Research, Ltd., 2016-12-02)
    Species and populations with parallel evolution of specific traits can help illuminate how predictable adaptations and divergence are at the molecular and developmental level. Following the last glacial period, dwarfism and specialized bottom feeding ...
  • Kapralova, Kalina; Guðbrandsson, Jóhannes; Reynisdottir, Sigrun; Santos, Cristina B.; Baltanás, Vanessa C; Maier, Valerie H. untranslated; Snorrason, Sigurður S.; Palsson, Arnar (Public Library of Science (PLoS), 2013-07-24)
    Northern freshwater fish may be suitable for the genetic dissection of ecological traits because they invaded new habitats after the last ice age (∼10.000 years ago). Arctic charr (Salvelinus alpinus) colonizing streams and lakes in Iceland gave rise ...
  • Agnarsdóttir, Dagbjört; Sigurjónsdóttir, Vaka Kristín; Emilsdóttir, Arna Rut; Petersen, Erna; Sigfússon, Gunnlaugur; Rögnvaldsson, Ingólfur; Franzson, Leifur; Vernon, Hilary; Bjornsson, Hans Tomas (2022-06-16)
    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 ...
  • Katrínardóttir, Borgný; Alves, Jose; Sigurjónsdóttir, Hrefna; Hersteinsson, Páll; Gunnarsson, Tomas Gretar (Public Library of Science (PLoS), 2015-07-10)
    Distinct preference of species for habitats is most often driven by long term differences in demographic rates between habitats. Estimating variation in those rates is key for developing successful conservation strategies. Stochastic events can interact ...
  • Gowers, Glen-Oliver. F.; Vince, Oliver; Charles, John-Henry; Klarenberg, Ingeborg J.; Ellis, Tom; Edwards, Arwyn (MDPI AG, 2019-11-07)
    Microbial communities in remote locations remain under-studied. This is particularly true on glaciers and icecaps, which cover approximately 11% of the Earth’s surface. The principal reason for this is the inaccessibility of most of these areas due ...
  • HUNT All-In Pain; ARGO Consortium; Regeneron Genetics Center; arcOGEN consortium (2021-11-24)
    (Cell 184, 4784–4818.e1–e16, September 2, 2021) In this article, we carried out a multi-cohort GWAS meta-analysis for 11 osteoarthritis phenotypes. Since publication, we have become aware of the following typographical errors that were introduced during ...
  • Nawaz, Muhammad Sulaman (University of Iceland, School of Health Sciences, Faculty of Medicine, 2022-12)
    Neurodevelopmental disorders on the impulsivity-compulsivity spectrum are chronic disabling conditions with an early onset. High rates of comorbidity have been reported between Tourette syndrome (TS), Tics disorder (Tics), obsessive compulsive ...
  • Mattingsdal, Morten; Ebenesersdóttir, Sigríður Sunna; Moore, Kristjan Helgi Swerford; Andreassen, Ole A.; Hansen, Thomas Folkmann; Werge, Thomas M.; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Helgason, Agnar Sturla; Stefánsson, Kári; Hovig, Eivind (2021-11)
    The aim of the present study was to describe the genetic structure of the Norwegian population using genotypes from 6369 unrelated individuals with detailed information about places of residence. Using standard single marker- and haplotype-based ...
  • Helgadottir, Anna; Thorleifsson, Gudmar; Alexandersson, Kristjan F; Tragante, Vinicius; Þorsteinsdóttir, Margrét; Eiriksson, Finnur Freyr; Grétarsdóttir, Sólveig; Björnsson, Eyþór; Magnússon, Ólafur; Sveinbjornsson, Gardar; Jonsdottir, Ingileif; Steinthorsdottir, Valgerdur; Ferkingstad, Egil; Jensson, Brynjar Ö; Stefansson, Hreinn; Olafsson, Isleifur; Christensen, Alex H; Torp-Pedersen, Christian; Køber, Lars; Pedersen, Ole B; Erikstrup, Christian; Sørensen, Erik; Brunak, Søren; Banasik, Karina; Hansen, Thomas F; Nyegaard, Mette; Eyjólfsson, Guðmundur I.; Sigurdardottir, Olof; Þórarinsson, Björn L; Matthíasson, Stefán E.; Steingrimsdottir, Thora; Björnsson, Einar Stefán; Danielsen, Ragnar; Asselbergs, Folkert W.; Arnar, David O; Ullum, Henrik; Bundgaard, Henning; sulem, patrick; Thorsteinsdottir, Unnur; Thorgeirsson, Gudmundur; Holm, Hilma; Gudbjartsson, Daniel; Stefansson, Kari (Oxford University Press (OUP), 2020-07-21)
    Aims: To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants in the ABCG5/8 genes, key regulators of intestinal absorption of dietary ...
  • Björnsson, Eyþór (University of Iceland, School of Health Sciences, Faculty of Medicine, 2021-10-08)
    Kransæðasjúkdómur dregur fleiri til dauða á hverju ári en nokkur annar sjúkdómur á heimsvísu. Sjúkdómurinn einkennist af framvindu æðakölkunar, sem er flókið og margþætt ferli. Á undanförnum 14 árum hafa rannsóknir með víðtækri erfðamengisleit leitt ...