Opin vísindi

Browsing by Subject "Genetics"

Browsing by Subject "Genetics"

Sort by: Order: Results:

  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Ferreira, Manuel A.; Arason, Adalgeir (Springer Science and Business Media LLC, 2019-04-15)
    Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and ...
  • Gudmundsson, Julius; Sigurðsson, Jón K.; Stefánsdóttir, Lilja; Agnarsson, Bjarni A.; Ísaksson, Helgi J.; Stefánsson, Ólafur A.; Guðjónsson, Sigurjón Axel; Gudbjartsson, Daniel; Másson, Gísli; Frigge, Michael L.; Stacey, Simon N.; Sulem, Patrick; Halldorsson, Gisli; Tragante, Vinicius; Holm, Hilma; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Olafsson, Isleifur; Jónsson, Þorvaldur; Jónsson, Eirikur; Barkardottir, Rosa Bjork; Hilmarsson, Rafn; Asselbergs, Folkert W.; Geirsson, Guðmundur; Thorsteinsdottir, Unnur; Rafnar, Thorunn; Thorleifsson, Gudmar; Stefansson, Kari (Springer Science and Business Media LLC, 2018-11-08)
    Benign prostatic hyperplasia and associated lower urinary tract symptoms (BPH/LUTS) are common conditions affecting the majority of elderly males. Here we report the results of a genome-wide association study of symptomatic BPH/LUTS in 20,621 patients ...
  • Styrkarsdottir, Unnur; Stefansson, Olafur A.; Gunnarsdottir, Kristbjorg; Thorleifsson, Gudmar; Lund, Sigrún Helga; Stefansdottir, Lilja; Juliusson, Kristinn; Ágústsdóttir, Arna B.; Zink, Florian; Halldorsson, Gisli; Ivarsdottir, Erna V.; Benonisdottir, Stefania; Jonsson, Hakon; Gylfason, Arnaldur; Norland, Kristjan; Trajanoska, Katerina; Boer, Cindy G.; Southam, Lorraine; Leung, Jason C. S.; Tang, Nelson L. S.; Kwok, Timothy C. Y.; Lee, Jenny S. W.; Ho, Suzanne C.; Byrjalsen, Inger; Center, Jacqueline R.; Lee, Seung Hun; Koh, Jung-Min; Lohmander, L. Stefan; Ho-Pham, Lan T.; Nguyen, Tuan V.; Eisman, John A.; Woo, Jean; Leung, Ping-C.; Loughlin, John; Zeggini, Eleftheria; Christiansen, Claus; Rivadeneira, Fernando; van Meurs, Joyce; Uitterlinden, Andre G.; Mogensen, Brynjólfur; Jonsson, Helgi; Ingvarsson, Þorvaldur; Sigurdsson, Gunnar; Benediktsson, Rafn; Sulem, Patrick; Jonsdottir, Ingileif; Másson, Gísli; Holm, Hilma; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Kari (Springer Science and Business Media LLC, 2019-05-03)
    Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and lumbar spine (N ≥ 28,954), we find thirteen independent association signals at twelve loci ...
  • Ingthorsson, Saevar; Andersen, K; Hilmarsdóttir, Bylgja; Mælandsmo, Gunhild M; Magnusson, Magnus Karl; Gudjonsson, Thorarinn (Springer Nature, 2015-12-21)
    The members of the epidermal growth factor receptor (EGFR) kinase family are important players in breast morphogenesis and cancer. EGFR2/HER2 and EGFR expression have a prognostic value in certain subtypes of breast cancer such as HER2-amplified, ...
  • Heinz, Marcel; Erlenbach, Nicole; Stelzl, Lukas S; Thierolf, Grace; Kamble, Nilesh Ramesh; Sigurdsson, Snorri; Prisner, Thomas F.; Hummer, Gerhard (Oxford University Press (OUP), 2019-11-28)
    Pulsed electron paramagnetic resonance (EPR) experiments, among them most prominently pulsed electron-electron double resonance experiments (PELDOR/DEER), resolve the conformational dynamics of nucleic acids with high resolution. The wide application ...
  • Refoyo-Martínez, Alba; da Fonseca, Rute R.; Halldórsdóttir, Katrín; Árnason, Einar; Mailund, Thomas; Racimo, Fernando (Cold Spring Harbor Laboratory, 2019-07-30)
    Detailed modeling of a species’ history is of prime importance for understanding how natural selection operates over time. Most methods designed to detect positive selection along sequenced genomes, however, use simplified representations of past ...
  • Gudbjartsson, Daniel; Thorgeirsson, Gudmundur; Sulem, Patrick; Helgadottir, Anna; Gylfason, Arnaldur; Sæmundsdóttir, Jóna; Björnsson, Eyþór; Norðdahl, Guðmundur L.; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Eggertsson, Hannes; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Indridason, Olafur Skuli; Palsson, Runolfur; Jónasson, Friðbert; Jonsdottir, Ingileif; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Ólafsson, Ísleifur; Danielsen, Ragnar; Matthíasson, Stefán E.; Kristmundsdóttir, Snædís; Halldórsson, Bjarni V.; Hreiðarsson, Ástráður Benedikt; Valdimarsson, Einar M.; Gudnason, Thorarinn; Benediktsson, Rafn; Steinthorsdottir, Valgerdur; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (Elsevier BV, 2019-12-17)
    Background: Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not established. Low levels of Lp(a) have been associated with type 2 ...
  • Atacho, Diahann A. M.; Reynisson, Hallur; Pétursdóttir, Anna Þóra; Eysteinsson, Thor; Steingrimsson, Eirikur; Petersen, Petur Henry (Society for Neuroscience, 2020-03)
    Neuroplasticity forms the basis for neuronal circuit complexity and differences between otherwise similar circuits. We show that the microphthalmia-associated transcription factor (Mitf) plays a central role in intrinsic plasticity of olfactory bulb ...
  • Wesolowska, Natalia; Reynisdóttir, Sigrún; Ludwig, Michael Z.; Kreitman, Martin; Palsson, Arnar (Public Library of Science (PLoS), 2014-05-01)
    Changes in regulatory DNA contribute to phenotypic differences within and between taxa. Comparative studies show that many transcription factor binding sites (TFBS) are conserved between species whereas functional studies reveal that some mutations ...
  • Guðmundsson, Bjarki; Þormar, Hans G; Sigurðsson, Albert; Dankers, Wendy; Steinarsdóttir, Margrét; Hermanowicz, Stefan; Sigurðsson, Stefán; Ólafsson, Davið; Halldorsdottir, Anna; Meyn, Stephen; Jonsson, Jon J. (Oxford University Press (OUP), 2018-07-24)
    DNA damage assays have various limitations in types of lesions detected, sensitivity, specificity and samples that can be analyzed. The Northern Lights Assay (NLA) is based on 2D Strandness-Dependent Electrophoresis (2D-SDE), a technique that separates ...
  • Palsson, Arnar; Rouse, Ann; Riley-Berger, Rebecca; Dworkin, Ian; Gibson, Greg (Genetics Society of America, 2004-07-01)
    The Epidermal growth factor receptor is an essential gene with diverse pleiotropic roles in development throughout the animal kingdom. Analysis of sequence diversity in 10.9 kb covering the complete coding region and 6.4 kb of potential regulatory ...