Browsing University of Bergen Library by Journals "Human Molecular Genetics"

Now showing items 1-4 of 4

    • Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios 

      Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind; Modzelewska, Dominika; Vaudel, Marc; Flatley, Christopher; Andreassen, Ole; Njølstad, Pål Rasmus; Muglia, Louis J.; Johansson, Stefan; Zhang, Ge; Jacobsson, Bo (Journal article; Peer reviewed, 2020)
      Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring ...

    • Detailed stratified GWAS analysis for severe COVID-19 in four European populations 

      Degenhardt, Frauke; Ellinghaus, David; Juzenas, Simonas; Lerga-Jaso, Jon; Wendorff, Mareike; Maya-Miles, Douglas; Uellendahl-Werth, Florian; ElAbd, Hesham; Lenning, Ole Bernt; Myhre, Ronny; Vadla, May Sissel; Holten, Aleksander Rygh; Kildal, Anders Benjamin; Lind, Andreas; Dyrhol-Riise, Anne Ma; Hoff, Dag Arne Lihaug; Müller, Fredrik; Solligård, Erik; Holter, Jan Cato; Afset, Jan Egil; Damås, Jan Kristian; Bergan, Jonas; Risnes, Kari; Muller, Karl Erik; Tonby, Kristian; Heggelund, Lars; Gustad, Lise Tuset; Grimsrud, Marit Mæhle; Dudman, Susanne Gjeruldsen; Folseraas, Trine; Skogen, Vegard; Hov, Johannes Espolin Roksund; Karlsen, Tom Hemming; Rühlemann, Malte C.; Arora, Jatin; Özer, Onur; Wacker, Eike Matthias; Wienbrandt, Lars; Ortiz, Aron Blandino; de Salazar, Adolfo; Chercoles, Adolfo Garrido; Palom, Adriana; Ruiz, Agustin; Garzia-Fernandez, Alba-Estela; Blanco-Grau, Albert; Mantovani, Alberto; Zanella, Alberto; Mayer, Alena; Bandera, Alessandra; Franke, Andre (Journal article; Peer reviewed, 2022)
      Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease ...

    • Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects 

      Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine; Hjaltadottir, Jorunn; Hornnes, Lorentze Hope; Molnes, Janne; Madsen, Andre Greger; Sjøholt, Gry; Bellanne-Chantelot, Christine; Caswell, Richard; Sagen, Jørn Vegard; Njølstad, Pål Rasmus; Aukrust, Ingvild; Bjørkhaug, Lise (Journal article; Peer reviewed, 2024)
      Hepatocyte nuclear factor-4 alpha (HNF-4A) regulates genes with roles in glucose metabolism and β-cell development. Although pathogenic HNF4A variants are commonly associated with maturity-onset diabetes of the young (MODY1; ...

    • Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 

      Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu; Di Maria, Emilio; Gjertsen, Bjørn Tore; Tveit, Kåre Steinar; Thu, Frode; Bull, Nils; Edward, Deepak P.; Hennekam, Raoul C.; Høvding, Gunnar Jr; Haugen, Olav H.; Houge, Gunnar Douzgos; Rødahl, Eyvind; Bruland, Ove (Journal article; Peer reviewed, 2021)
      Ocular pterygium-digital keloid dysplasia (OPDKD) presents in childhood with ingrowth of vascularized connective tissue on the cornea leading to severely reduced vision. Later the patients develop keloids on digits but are ...