• A Brief Review on the Regulatory Roles of MicroRNAs in Cystic Diseases and Their Use as Potential Biomarkers 

      Ruiz-Manriquez, Luis M.; Ledesma Pacheco, Schoenstatt Janin; Medina-Gomez, Daniel; Uriostegui-Pena, Andrea G.; Estrada-Meza, Carolina; Bandyopadhyay, Anindya; Pathak, Surajit; Banerjee, Antara; Chakraborty, Samik; Srivastava, Aashish; Paul, Sujay (Journal article; Peer reviewed, 2022)
      miRNAs are small endogenous conserved non-coding RNA molecules that regulate post-transcriptional gene expression through mRNA degradation or translational inhibition, modulating nearly 60% of human genes. Cystic diseases ...
    • From genotype to phenotype: Through chromatin 

      Romanowska, Julia; Joshi, Anagha (Peer reviewed; Journal article, 2019-01-23)
      Advances in sequencing technologies have enabled the exploration of the genetic basis for several clinical disorders by allowing identification of causal mutations in rare genetic diseases. Sequencing technology has also ...
    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions 

      Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg; Ariansen, Sarah Louise; Sjursen, Wenche; Van Ghelue, Marijke; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal (Journal article; Peer reviewed, 2023-01-19)
      The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). ...
    • Gene-Environment Interactions in Attention-Deficit/Hyperactivity Disorder Symptom Dimensions: The Role of Unhealthy Food Habits 

      Li, Lin; Taylor, Mark J; Bälter, Katarina; xie, tian; Solberg, Berit Skretting; Haavik, Jan; Arias-Vásquez, Alejandro; Hartman, Catharina A; Larsson, Henrik (Journal article; Peer reviewed, 2021)
      Background: Dietary habits were investigated as environmental risk factors for Attention-Deficit/Hyperactivity Disorder (ADHD). However, no previous studies explored the effects of dietary factors on modifying the role of ...
    • Hfe genotype, ferritin levels and transferrin saturation in patients with suspected hereditary hemochromatosis 

      Sandnes, Miriam; Vorland, Marta; Ulvik, Rune J.; Reikvam, Håkon (Journal article; Peer reviewed, 2021)
      HFE hemochromatosis is characterized by increased iron absorption and iron overload due to variants of the iron-regulating HFE gene. Overt disease is mainly associated with homozygosity for the C282Y variant, although the ...