Blar i Bergen Open Research Archive på forfatter "Njølstad, Pål Rasmus"

Viser treff 41-60 av 77

    • Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes 

      Tapia, German; Mortimer, Georgina; Ye, Jody; Gillard, Benjamin Thomas; Chipper-Keating, Saranna; Mårild, Karl Staffan; Viken, Marte K; Lie, Benedicte Alexandra; Joner, Geir; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Størdal, Ketil; Gillespie, Kathleen; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2019-09)
      Background: Maternal microchimerism (MMc), the transmission of small quantities of maternal cells to the fetus, is relatively common and persistent. MMc has been detected with increased frequency in the circulation and ...

    • Medfødt hyperinsulinisme 

      Velde, Christoffer Drabløs; Reigstad, Hallvard; Tjora, Erling; Guthe, Hans Jørgen Timm; Hansen, Eirik Vangsøy; Molven, Anders; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2023)
      Denne kliniske oversikten vil gi leger som arbeider med barn og nyfødte, en innføring i diagnostikk og behandling av medfødt hyperinsulinisme, den vanligste årsaken til langvarig hypoglykemi hos nyfødte. Tilstanden er en ...

    • Modeling assortative mating and genetic similarities between partners, siblings, and in-laws 

      Torvik, Fartein Ask; Eilertsen, Espen Moen; Hannigan, Laurie J.; Cheesman, Rosa; Howe, Laurence J.; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Andreassen, Ole A.; Njølstad, Pål Rasmus; Havdahl, Alexandra; Ystrøm, Eivind (Journal article; Peer reviewed, 2022)
      Assortative mating on heritable traits can have implications for the genetic resemblance between siblings and in-laws in succeeding generations. We studied polygenic scores and phenotypic data from pairs of partners ...

    • The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants 

      El Jellas, Khadija; Johansson, Bente Berg; Fjeld, Karianne; Antonopoulos, Aristotelis; Immervoll, Heike; Choi, Man Hung; Hoem, Dag; Lowe, Mark E.; Lombardo, Dominique; Njølstad, Pål Rasmus; Dell, Anne; Mas, Eric; Haslam, Stuart M.; Molven, Anders (Peer reviewed; Journal article, 2018)
      Carboxyl-ester lipase (CEL) is a pancreatic fat-digesting enzyme associated with human disease. Rare mutations in the CEL gene cause a syndrome of pancreatic exocrine and endocrine dysfunction denoted MODY8, whereas a ...

    • No association between long-chain n-3 fatty acid intake during pregnancy and risk of type 1 diabetes in offspring in two large Scandinavian pregnancy cohorts 

      Lund-Blix, Nicolai Andre; Bjerregaard, Anne A.; Tapia, German; Størdal, Ketil; Brantsæter, Anne Lise; Strøm, Marin; Halldorsson, Thorhallur I.; Granstrøm, Charlotta; Svensson, Jannet; Joner, Geir; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Olsen, Sjurdur F.; Stene, Lars Christian Mørch (Journal article; Peer reviewed, 2024)
      Aims/hypothesis The aim of this study was to investigate whether higher dietary intake of marine n-3 fatty acids during pregnancy is associated with a lower risk of type 1 diabetes in children. Methods The Danish ...

    • Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits 

      Vogelezang, Suzanne; Bradfield, Jonathan P.; Ahluwalia, Tarunveer S.; Curtin, John A.; Lakka, Timo A.; Grarup, Niels; Scholz, Markus; van der Most, Peter J.; Monnereau, Claire; Stergiakouli, Evie; Heiskala, Anni; Horikoshi, Momoko; Fedko, Iryna O.; Vilor-Tejedor, Natalia; Cousminer, Diana L.; Standl, Marie; Wang, Carol A.; Viikari, Jorma; Geller, Frank; Íñiguez, Carmen; Pitkänen, Niina; Chesi, Alessandra; Bacelis, Jonas; Yengo, Loic; Torrent, Maties; Ntalla, Ioanna; Helgeland, Øyvind; Selzam, Saskia; Vonk, Judith M.; Zafarmand, Mohammed H.; Heude, Barbara; Farooqi, Ismaa Sadaf; Alyass, Akram; Beaumont, Robin N.; Have, Christian T.; Rzehak, Peter; Bilbao, Jose Ramon; Schnurr, Theresia M.; Barroso, Inês; Bønnelykke, Klaus; Beilin, Lawrence J.; Carstensen, Lisbeth; Charles, Marie-Aline; Chawes, Bo; Clément, Karine; Closa-Monasterolo, Ricardo; Custovic, Adnan; Eriksson, Johan G.; Vaudel, Marc; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2020)
      The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed ...

    • A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland 

      Thuesen, Anne Cathrine; Stæger, Fredrik Filip; Kaci, Alba; Solheim, Marie Holm; Aukrust, Ingvild; Jørsboe, Emil; Santander, Cindy G.; Andersen, Mette; Li, Zilong; Gilly, Arthur; Stinson, Sara Elizabeth; Gjesing, Anette Prior; Bjerregaard, Peter; Pedersen, Michael Lynge; Larsen, Christina Viskum Lytken; Grarup, Niels; Jørgensen, Marit E.; Zeggini, Eleftheria; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Albrechtsen, Anders; Moltke, Ida; Hansen, Torben (Journal article; Peer reviewed, 2023)
      Background: The genetic disease architecture of Inuit includes a large number of common high-impact variants. Identification of such variants contributes to our understanding of the genetic aetiology of diseases and improves ...

    • On the importance of parenting in externalizing disorders: an evaluation of indirect genetic effects in families 

      Eilertsen, Espen Moen; Gillespie Cheesman, Rosa Catherine; Ayorech, Ziada; Røysamb, Espen; Pingault, Jean-Baptiste; Njølstad, Pål Rasmus; Andreassen, Ole; Havdahl, Alexandra Karoline Saasen; McAdams, Tom A.; Torvik, Fartein Ask; Ystrøm, Eivind (Journal article; Peer reviewed, 2022)
      Background: Theoretical models of the development of childhood externalizing disorders emphasize the role of parents. Empirical studies have not been able to identify specific aspects of parental behaviors explaining a ...

    • Parental smoking and risk of childhood-onset type 1 diabetes 

      Magnus, Maria Christine; Tapia, German; Olsen, Sjurdur Frodi; Granström, Charlotta; Mårild, Karl Staffan; Ueland, Per Magne; Midttun, Øivind; Svensson, Jannet; Johannesen, Jesper; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-11)
      Background: A few prospective studies suggest an association between maternal smoking during pregnancy and lower risk of type 1 diabetes. However, the role of unmeasured confounding and misclassification remains unclear. ...

    • Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes 

      Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta; Lund-Blix, Nicolai Andre; Svensson, Jannet; Johannesen, Jesper; Fraser, Abigail; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-02-05)
      Background Our objective was to examine the associations of parental body mass index (BMI) and maternal gestational weight gain with childhood-onset type 1 diabetes. Comparing the associations of maternal and paternal BMI ...

    • Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes 

      Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta; Lund-Blix, Nicolai Andre; Svensson, Jannet; Johannesen, Jesper; Fraser, Abigail; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-04)
      Background Our objective was to examine the associations of parental body mass index (BMI) and maternal gestational weight gain with childhood-onset type 1 diabetes. Comparing the associations of maternal and paternal BMI ...

    • Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells 

      Valvatne, Monica Dalva; el Jellas, Khadija; Gravdal, Anny; Njølstad, Pål Rasmus; Molven, Anders; Fjeld, Karianne; Lugea, Aurelia; Pandol, Stephen J; Waldron, Richard T; Lavik, Ida; Johansson, Bente B. (Journal article; Peer reviewed, 2020)
      Mutations in the gene encoding the digestive enzyme carboxyl ester lipase (CEL) are linked to pancreatic disease. The CEL variant denoted CEL-HYB predisposes to chronic pancreatitis, whereas the CEL-MODY variant causes ...

    • PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping 

      Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos; Fabregat, Antonio; Johansson, Stefan; Njølstad, Pål Rasmus; Barsnes, Harald; Hermjakob, Henning; Vaudel, Marc (Peer reviewed; Journal article, 2019-07-30)
      Background Mapping biomedical data to functional knowledge is an essential task in bioinformatics and can be achieved by querying identifiers (e.g., gene sets) in pathway knowledge bases. However, the isoform and ...

    • Physical Activity Attenuates the Influence of FTO Variants on Obesity Risk: A Meta-Analysis of 218,166 Adults and 19,268 Children 

      Kilpeläinen, Tuomas O.; Qi, Lu; Brage, Soren; Sharp, Stephen J.; Sonestedt, Emily; Demerath, Ellen; Johansson, Stefan; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2011-11-01)
      Background: The FTO gene harbors the strongest known susceptibility locus for obesity. While many individual studies have suggested that physical activity (PA) may attenuate the effect of FTO on obesity risk, other studies ...

    • Placental weight centiles adjusted for age, parity and fetal sex 

      Flatley, Christopher; Sole-Navais, Pol; Vaudel, Marc; Helgeland, Øyvind; Modzelewska, Dominika; Johansson, Stefan; Jacobsson, Bo; Njølstad, Pål Rasmus (Journal article; Peer reviewed, 2022)
      Introduction The weight of the placenta can be indicative of efficacy in nutrient and oxygen supply. Furthermore, it has been suggested that a measure of the placenta's ability to adequately supply nutrients to the fetus ...

    • Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents 

      Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Øyvind; Knudsen, Gun Peggy Strømstad; Vaudel, Marc; Haavik, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Houge, Gunnar; Johansson, Stefan (Journal article; Peer reviewed, 2020)
      Recurrent copy number variations (CNVs) are common causes of neurodevelopmental disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at defined genomic regions that are particularly prone ...

    • The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity 

      Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam; Jellas, Khadija el; Johansson, Stefan; Njølstad, Pål Rasmus; Lowe, Mark E.; Johansson, Bente Berg; Molven, Anders; Fjeld, Karianne (Journal article; Peer reviewed, 2021)
      Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar ...

    • Prediction of type 1 diabetes at birth: Cord blood metabolites vs genetic risk score in the Norwegian mother, father, and child cohort 

      Tapia, German; Suvitaival, Tommi; Ahonen, Linda; Lund-Blix, Nicolai Andre; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild; Legido-Quigley, Cristina; Størdal, Ketil; Stene, Lars Christian Mørch (Journal article; Peer reviewed, 2021)
      Background and aim: Genetic markers are established as predictive of type 1 diabetes, but unknown early life environment is believed to be involved. Umbilical cord blood may reflect perinatal metabolism and exposures. We ...

    • Prenatal iron exposure and childhood type 1 diabetes 

      Størdal, Ketil; McArdle, Harry J.; Hayes, Helen; Tapia, German; Viken, Marte K; Lund-Blix, Nicolai Andre; Haugen, Margaretha; Joner, Geir; Skrivarhaug, Torild; Mårild, Karl Staffan; Njølstad, Pål Rasmus; Eggesbø, Merete Åse; Mandal, Siddhartha; Page, Christian; London, Stephanie J.; Lie, Benedicte Alexandra; Stene, Lars Christian Mørch (Peer reviewed; Journal article, 2018-06-13)
      Iron overload due to environmental or genetic causes have been associated diabetes. We hypothesized that prenatal iron exposure is associated with higher risk of childhood type 1 diabetes. In the Norwegian Mother and Child ...

    • Rectal sensitivity correlated with gastrointestinal-mediated glucose disposal, but not the incretin effect 

      Meling, Sondre V.; Tjora, Erling; Eichele, Heike; Nedergaard, Rasmus B.; Knop, Filip K.; Ejskjaer, Niels; Carlsen, Siri; Njølstad, Pål Rasmus; Brock, Christina; Søfteland, Eirik (Journal article; Peer reviewed, 2024)
      Objective The mechanisms behind the diminished incretin effect in type 2 diabetes are uncertain, but impaired vagal transmission has been suggested. We aimed to investigate the association between the incretin effect ...