Blar i Bergen Open Research Archive på forfatter "Kockum, Ingrid"

Viser treff 1-5 av 5

    • Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European Cohorts 

      Mitchell, Anna L.; Macarthur, Katie D.R.; Gan, Earn H.; Baggott, Lucy E.; Wolff, Anette Susanne Bøe; Skinningsrud, Beate; Platt, Hazel; Short, Andrea; Lobell, Anna; Kämpe, Olle; Bensing, Sophie; Betterle, Corrado; Kasperlik-Zaluska, Anna; Zurawek, Magdalena; Fichna, Marta; Kockum, Ingrid; Eriksson, Gabriel Nordling; Ekwall, Olov; Wahlberg, Jeanette; Dahlqvist, Per; Hulting, Anna-Lena; Penna-Martinez, Marissa; Meyer, Gesine; Kahles, Heinrich; Badenhoop, Klaus; Hahner, Stefanie; Quinkler, Marcus; Falorni, Alberto; Phipps-Green, Amanda; Merriman, Tony R.; Ollier, William; Cordell, Heather J.; Undlien, Dag Erik; Czarnocka, Barbara; Husebye, Eystein Sverre; Pearce, Simon H.S. (Peer reviewed; Journal article, 2014-03-10)
      Background: Gene variants known to contribute to Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component ...

    • Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function 

      Meisgen, Sabrina; Hedlund, Malin; Ambrosi, Aurelie; Folkersen, Lasse; Ottosson, Vijole; Forsberg, David; Thorlacius, Gudny Ella; Biavati, Luca; Strandberg, Linn; Mofors, Johannes; Ramskold, Daniel; Ruhrmann, Sabrina; Meneghel, Lauro; Nyberg, William; Espinosa, Alexander; Hamilton, Robert Murray; Franco-Cereceda, Anders; Hamsten, Anders; Olsson, Tomas; Greene, Lois; Eriksson, Per; Gemzell-Danielsson, Kristina; Salomonsson, Stina; Kuchroo, Vijay K; Herlenius, Eric; Kockum, Ingrid; Sonesson, Sven-Erik; Herlenius, Marie Elisabeth Wahren (Journal article; Peer reviewed, 2022)
      Objective: Neonatal lupus erythematosus (NLE) may develop after transplacental transfer of maternal autoantibodies with cardiac manifestations (congenital heart block, CHB) including atrioventricular block, atrial and ...

    • Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality 

      Oddsson, Asmundur; Sulem, Patrick; Sveinbjornsson, Gardar; Arnadottir, Gudny A.; Steinthorsdottir, Valgerdur; Halldorsson, Gisli H.; Atlason, Bjarni A.; Oskarsson, Gudjon R.; Helgason, Hannes; Nielsen, Henriette Svarre; Westergaard, David; Karjalainen, Juha; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jensson, Brynjar O.; Tragante, Vinicius; Ferkingstad, Egil; Jónsson, Hákon; Gudjonsson, Sigurjon A.; Beyter, Doruk; Moore, Kristjan H.S.; Thordardottir, Helga B.; Kristmundsdottir, Snædis; Stefansson, Olafur A.; Rantapää Dahlqvist, Solbritt; Sonderby, Ida Elken; Didriksen, Maria; Stridh, Pernilla; Haavik, Jan; Tryggvadottir, Laufey; Frei, Oleksandr; Walters, G. Bragi; Kockum, Ingrid; Hjalgrim, Henrik; Olafsdottir, Thorunn A; Selbæk, Geir; Nyegaard, Mette; Erikstrup, Christian; Brodersen, Thorsten; Sævarsdottir, Sædis; Olsson, Tomas; Nielsen, Kaspar Rene; Haraldsson, Àsgeir; Bruun, Mie Topholm; Hansen, Thomas Folkmann; Steingrimsdottir, Thora; Jacobsen, Rikke Louise; Lie, Rolv T.; Djurovic, Srdjan; Alfredsson, Lars; Portilla, A.L.; Brunak, Søren; Havdahl, Alexandra; Andreassen, Ole (Journal article; Peer reviewed, 2023)
      Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with ...

    • Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations 

      Olafsson, S.; Stridh, P.; Bos, Steffan Daniel; Ingason, Andrés; Euesden, J; Sulem, Patrick; Thorleifsson, Gudmar; Gustafsson, O; Geirsson, AJ; Jóhannesson, Ari J.; Thorsson, AV; Ludviksson, BR; Sigurgeirsson, Bardur; Jonasson, JG; Olafsson, E; Kristjansdottir, H; Olafsson, JH; Orvar, KB; Benediktsson, Rafn; Bjarnason, Ragnar; Kristjansdottir, Sjofn; Gislason, Thorarin; Valdimarsson, T; Mikaelsdottir, E; Sigurdsson, S; Jonsson, S; Rafnar, Thorunn; Aarsland, Dag; Djurovic, Srdjan; Fladby, Tormod; Knudsen, Gun Peggy S.; Celius, Elisabeth Gulowsen; Myhr, Kjell-Morten; Gröndal, Gerdur; Steinsson, K; Valdimarsson, Helgi; Bjornsson, Sigurdur; Bjornsdottir, US; Bjornsson, Einar S.; Nilsson, B; Andreassen, Ole Andreas; Alfredsson, Lars; Hillert, Jan; Kockum, Ingrid; Másson, Gísli; Thorsteinssdottir, U; Gudbjartsson, Daniel F.; Stefansson, H; Hjaltason, H; Harbo, Hanne Flinstad; Olsson, T; Jonsdottir, I; Stefansson, K (Peer reviewed; Journal article, 2017)
      A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple ...

    • Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort 

      Westerlind, Helga; Imrell, Kerstin; Ramanujam, Ryan; Myhr, Kjell-Morten; Celius, Elisabeth Gulowsen; Harbo, Hanne Flinstad; Oturai, Annette Bang; Hamsten, Anders; Alfredsson, Lars; Olsson, Tomas; Kockum, Ingrid; Koski, Timo; Hillert, Jan (Peer reviewed; Journal article, 2015)
      In an attempt to map chromosomal regions carrying rare gene variants contributing to the risk of multiple sclerosis (MS), we identified segments shared identical-by-descent (IBD) using the software BEAGLE 4.0’s refined IBD ...