Blar i Faculty of Medicine på tidsskrift "Human Genetics"

Viser treff 1-3 av 3

    • Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N‑terminal acetylation 

      McTiernan, Nina; Tranebjærg, Lisbeth; Bjørheim, Anna Steensen; Hogue, Jacob S.; Wilson, William G.; Schmidt, Berkley; Boerrigter, Melissa M.; Nybo, Maja L.; Smeland, Marie; Tümer, Zeynep; Arnesen, Thomas (Journal article; Peer reviewed, 2022)
      NAA10 is the catalytic subunit of the N-terminal acetyltransferase complex, NatA, which is responsible for N-terminal acetylation of nearly half the human proteome. Since 2011, at least 21 different NAA10 missense variants ...

    • Discovery of shared genomic loci using the conditional false discovery rate approach 

      Smeland, Olav Bjerkehagen; Frei, Oleksandr; Shadrin, Alexey A.; O'Connell, Kevin; Fan, Chun Chieh; Bahrami, Shahram; Holland, Dominic; Djurovic, Srdjan; Thompson, Wesley Kurt; Dale, Anders; Andreassen, Ole Andreas (Peer reviewed; Journal article, 2020)
      In recent years, genome-wide association study (GWAS) sample sizes have become larger, the statistical power has improved and thousands of trait-associated variants have been uncovered, offering new insights into the genetic ...

    • In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 

      Hytönen, Marjo K.; Sarviaho, Riika; Jackson, Christopher; Syrjä, Pernilla; Jokinen, Tarja S.; Matiasek, Kaspar; Rosati, Marco; Dallabona, Cristina; Baruffini, Enrico; Quintero, Ileana; Arumilli, Meharji; Monteuuis, Geoffray; Donner, Jonas; Anttila, Marjukka; Suomalainen, Anu; Bindoff, Laurence Albert; Lohi, Hannes (Journal article; Peer reviewed, 2021)
      We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at ...