Blar i NTNU Open på forfatter "Vigeland, Magnus Dehli"

Viser treff 1-5 av 5

    • A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing 

      Bjørnstad, Pål Marius; Aaløkken, Ragnhild Margrethe; Åsheim, June; Sundaram, Arvind; Nangota Felde, Caroline; Østby, Gina Henriette; Dalland, Marianne; Sjursen, Wenche; Carrizosa, Christian; Vigeland, Magnus Dehli; Sorte, Hanne Sørmo; Sheng, Ying; Ariansen, Sarah Louise; Grindedal, Eli Marie; Gilfillan, Gregor (Peer reviewed; Journal article, 2023)
      Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. It is characterized by a significantly increased risk of ...

    • Mitochondrial genome-wide association study of migraine – the HUNT Study 

      Børte, Sigrid; Zwart, John-Anker; Skogholt, Anne Heidi; Gabrielsen, Maiken Elvestad; Thomas, Laurent; Fritsche, Lars G; Surakke, Ida; Nielsen, Jonas B.; Zhou, Wei; Wolford, Brooke; Vigeland, Magnus Dehli; Hagen, Knut; Kristoffersen, Espen Saxhaug; Nyholt, Dale R; Chasman, Daniel I; Brumpton, Ben Michael; Willer, Christen; Winsvold, Bendik K S (Peer reviewed; Journal article, 2020)
      Background Variation in mitochondrial DNA (mtDNA) has been indicated in migraine pathogenesis, but genetic studies to date have focused on candidate variants, with sparse findings. We aimed to perform the first mitochondrial ...

    • A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome 

      Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara Louise; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Hol, Johanna; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldsen, Guttorm; Selmer, Kaja Kristine (Peer reviewed; Journal article, 2021)
      Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The ...

    • Novel UCHL1 mutations reveal new insights into ubiquitin processing 

      Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte; Sheng, Ying; Yang, Mingyi; Lin, Xiaolin; Slupphaug, Geir; Nordenmark, Tonje Haug; Vigeland, Magnus Dehli; Bjørås, Magnar; Tallaksen, Chantal; Selmer, Kaja Kristine (Journal article; Peer reviewed, 2017)
      Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 has been implicated in early-onset progressive neurodegeneration (MIM no. 615491), so far only in one family. In this study a second family is characterized, ...

    • The Atlantic salmon genome provides insights into rediploidization 

      Lien, Sigbjørn; Koop, Ben F; Sandve, Simen Rød; Miller, Jason R.; Kent, Matthew Peter; Nome, Torfinn; Hvidsten, Torgeir Rhoden; Leong, Jong; Minkley, David R.; Zimin, Aleksey; Grammes, Fabian; Grove, Harald; Gjuvsland, Arne Bjørke; Walenz, Brian; Hermansen, Russell A.; von Schalburg, Kristian R.; Rondeau, Eric; Genova, Alex Di; Antony Samy, Jeevan Karloss; Vik, Jon Olav; Vigeland, Magnus Dehli; Caler, Lis; Grimholt, Unni; Jentoft, Sissel; Våge, Dag Inge; de Jong, Pieter J.; Moen, Thomas; Baranski, Matthew; Palti, Yniv; Smith, Douglas W.; Yorke, James A.; Nederbragt, Alexander J.; Tooming-Klunderud, Ave; Jakobsen, Kjetill Sigurd; Jiang, Xuanting; Fan, Dingding; Hu, Yan; Liberles, David A.; Vidal, Rodrigo; Iturra, Patricia; Jones, Steven J.M.; Jonassen, Inge; Maass, Alejandro; Omholt, Stig William; Davidson, William S (Journal article; Peer reviewed, 2016)
      The whole-genome duplication 80 million years ago of the common ancestor of salmonids (salmonid-specific fourth vertebrate whole-genome duplication, Ss4R) provides unique opportunities to learn about the evolutionary fate ...