Blar i Bergen Open Research Archive på forfatter "Johansson, Stefan"

Viser treff 41-54 av 54

    • 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 ...

    • PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema 

      Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence (Journal article, 2017-02)
      We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and ...

    • A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies 

      Aranda-Guillén, Maribel; Røyrvik, Ellen Christine; Fletcher-Sandersjöö, Sara; Artaza Alvarez, Haydee Maribel; Botusan, Ileana Ruxandra; Grytaas, Marianne Aardal; Hallgren, Åsa; Breivik, Lars Ertesvåg; Pettersson, Maria; Jørgensen, Anders Palmstrøm; Lindstrand, Anna; Vogt, Elinor Margrethe; Husebye, Eystein Sverre; Kämpe, Olle; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Eriksson, Daniel (Journal article; Peer reviewed, 2023)
      Background Autoimmune Addison's disease (AAD) is the most common cause of primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients ...

    • 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 ...

    • SeeCiTe: a method to assess CNV calls from SNP arrays using trio data 

      Lavrichenko, Ksenia; Helgeland, Øyvind; Njølstad, Pål Rasmus; Jonassen, Inge; Johansson, Stefan (Journal article; Peer reviewed, 2021)
      Motivation Single nucleotide polymorphism (SNP) genotyping arrays remain an attractive platform for assaying copy number variants (CNVs) in large population-wide cohorts. However, current tools for calling CNVs are still ...

    • STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity 

      Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg Eigner; Erichsen, Anne Kjersti; Gude, Einar; Koht, Jeanette A.; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal M. E.; Knappskog, Per; Johansson, Stefan (Peer reviewed; Journal article, 2014-09-26)
      Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...

    • A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity 

      Bradfield, Jonathan P.; Vogelezang, Suzanne; Felix, Janine F.; Chesi, Alessandra; Helgeland, Øyvind; Horikoshi, Momoko; Karhunen, Ville; Lowry, Estelle; Cousminer, Diana L.; Ahluwalia, Tarunveer S.; Thiering, Elisabeth; Boh, Eileen Tai-Hui; Zafarmand, Mohammad H.; Vilor-Tejedor, Natalia; Wang, Carol A.; Joro, Raimo; Chen, Zhanghua; Gauderman, William J.; Pitkänen, Niina; Parra, Esteban J.; Fernandez-Rhodes, Lindsay; Alyass, Akram; Monnereau, Claire; Curtin, John A.; Have, Christian T.; McCormack, Shana E.; Hollensted, Mette; Frithioff-Bøjsøe, Christine; Valladares-Salgado, Adan; Peralta-Romero, Jesus; Teo, Yik-Ying; Standl, Marie; Leinonen, Jaakko T.; Holm, Jens-Christian; Peters, Triinu; Vioque, Jesus; Vrijheid, Martine; Simpson, Angela; Custovic, Adnan; Vaudel, Marc; Canouil, Mickaël; Lindi, Virpi; Atalay, Mustafa; Kahonen, Mika; Raitakari, Olli T.; van Schaik, Barbera D.C.; Berkowitz, Robert I.; Cole, Shelley A.; Voruganti, V. Saroja; Wang, Yujie; Highland, Heather M.; Comuzzie, Anthony G.; Butte, Nancy F.; Justice, Anne E.; Gahagan, Sheila; Blanco, Estela; Lehtimäki, Terho; Lakka, Timo A.; Hebebrand, Johannes; Bonnefond, Amélie; Grarup, Niels; Froguel, Philippe; Lyytikäinen, Leo-Pekka; Cruz, Miguel; Kobes, Sayuko; Hanson, Robert L.; Zemel, Babette S.; Hinney, Anke; Teo, Koon K.; Meyre, David; North, Kari E.; Gilliland, Frank D.; Bisgaard, Hans; Bustamante, Mariona; Bønnelykke, Klaus; Pennell, Craig E.; Rivadeneira, Fernando; Uitterlinden, André G.; Baier, Leslie J.; Vrijkotte, Tanja G.M.; Heinrich, Joachim; Sørensen, Thorkild I.A.; Saw, Seang-Mei; Pedersen, Oluf; Hansen, Torben; Eriksson, Johan; Widén, Elisabeth; McCarthy, Mark I.; Njølstad, Pål Rasmus; Power, Christine; Hyppönen, Elina; Sebert, Sylvain; Brown, Christopher D.; Järvelin, Marjo-Riitta; Timpson, Nicholas J.; Johansson, Stefan; Hakonarson, Hakon; Jaddoe, Vincent W.V. (Peer reviewed; Journal article, 2019)
      Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted ...

    • Transcriptional Changes in Regulatory T Cells From Patients With Autoimmune Polyendocrine Syndrome Type 1 Suggest Functional Impairment of Lipid Metabolism and Gut Homing 

      Berger, Amund Holte; Bratland, Eirik; Sjøgren, Thea; Heimli, Marte; Tyssedal, Torgeir; Bruserud, Øyvind; Johansson, Stefan; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe (Journal article; Peer reviewed, 2021)
      Autoimmune polyendocrine syndrome type I (APS-1) is a monogenic model disorder of organ-specific autoimmunity caused by mutations in the Autoimmune regulator (AIRE) gene. AIRE facilitates the expression of organ-specific ...

    • Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases 

      Jellas, Khadija el; Dušátková, Petra; Haldorsen, Ingfrid S.; Molnes, Janne; Tjora, Erling; Johansson, Bente Berg; Fjeld, Karianne; Johansson, Stefan; Průhová, Štěpánka; Groop, Leif; Löhr, J. Matthias; Njølstad, Pål Rasmus; Molven, Anders (Journal article; Peer reviewed, 2022)
      Context Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years ...

    • Type 2 diabetes genes : present status and data from Norwegian studies 

      Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian; Nygård, Ottar; Njølstad, Pål Rasmus; Molven, Anders (Peer reviewed; Journal article, 2013)
      The worldwide rise in prevalence of type 2 diabetes has led to an intense search for the genetic risk factors of this disease. In type 2 diabetes and other complex disorders, multiple genetic and environmental factors, as ...

    • Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration 

      Liu, Xueping; Helenius, Dorte; Skotte, Line; Beaumont, Robin N.; Wielscher, Matthias; Geller, Frank; Juodakis, Julius; Mahajan, Anubha; Bradfield, Jonathan P.; Lin, Frederick T.J.; Vogelezang, Suzanne; Bustamante, Mariona; Ahluwalia, Tarunveer S.; Pitkänen, Niina; Wang, Carol A.; Bacelis, Jonas; Borges, Maria C.; Zhang, Ge; Bedell, Bruce A.; Rossi, Robert M.; Skogstrand, Kristin; Peng, Shouneng; Thompson, Wesley Kurt; Appadurai, Vivek; Lawlor, Debbie A.; Kalliala, Ilkka; Power, Christine; McCarthy, Mark I.; Boyd, Heather A.; Marazita, Mary L.; Hakonarson, Hakon; Hayes, M. Geoffrey; Scholtens, Denise M.; Rivadeneira, Fernando; Jaddoe, Vincent W.V.; Vinding, Rebecca K.; Bisgaard, Hans; Knight, Bridget A.; Pahkala, Katja; Raitakari, Olli; Helgeland, Øyvind; Johansson, Stefan; Njølstad, Pål Rasmus; Fadista, João; Schork, Andrew J.; Nudel, Ron; Miller, Daniel E.; Chen, Xiaoting; Weirauch, Matthew T.; Mortensen, Preben Bo; Børglum, Anders D.; Nordentoft, Merete; Mors, Ole; Hao, Ke; Ryckman, Kelli K.; Hougaard, David M.; Kottyan, Leah C.; Pennell, Craig E.; Lyytikäinen, Leo-Pekka; Bønnelykke, Klaus; Vrijheid, Martine; Felix, Janine F.; Lowe, William L.; Grant, Struan F.A.; Hyppönen, Elina; Jacobsson, Bo; Jarvelin, Marjo-Riitta; Muglia, Louis J.; Murray, Jeffrey C.; Freathy, Rachel M.; Werge, Thomas M.; Melbye, Mads; Buil, Alfonso; Feenstra, Bjarke (Peer reviewed; Journal article, 2019-09-02)
      The duration of pregnancy is influenced by fetal and maternal genetic and non-genetic factors. Here we report a fetal genome-wide association meta-analysis of gestational duration, and early preterm, preterm, and postterm ...