Now showing items 21-36 of 36

    • Genome-wide analysis of attention deficit hyperactivity disorder in Norway 

      Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Djurovic, Srdjan; Westlye, Lars Tjelta; Tamnes, Christian Krog; Fladby, Tormod; Aase, Heidi; Zeiner, Pål; Reichborn-Kjennerud, Ted; Knappskog, Per; Knudsen, Gun Peggy; Andreassen, Ole Andreas; Johansson, Stefan; Haavik, Jan (Peer reviewed; Journal article, 2015-04-13)
      Background Attention deficit hyperactivity disorder (ADHD) is a highly heritable neuropsychiatric condition, but it has been difficult to identify genes underlying this disorder. This study aimed to explore genetics of ...
    • Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth 

      Helgeland, Øyvind; Vaudel, Marc; Juliusson, Petur Benedikt; Holmen, Oddgeir Lingaas; Juodakis, Julius; Bacelis, Jonas; Jacobsson, Bo; Lindekleiv, Haakon; Hveem, Kristian; Lie, Rolv T.; Knudsen, Gun Peggy Strømstad; Stoltenberg, Camilla; Magnus, Per; Sagen, Jørn V.; Molven, Anders; Johansson, Stefan; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2019-10-01)
      Infant and childhood growth are dynamic processes with large changes in BMI during development. By performing genome-wide association studies of BMI at 12 time points from birth to eight years (9286 children, 74,105 ...
    • GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility 

      Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Artaza, Haydee; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Study group, Norwegian Addison Registry; Study Group, Swedish Addison Registry; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2021)
      Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ...
    • Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications 

      Rafaelsen, Silje Hjorth; Johansson, Stefan; Ræder, Helge; Bjerknes, Robert (Peer reviewed; Journal article, 2016-02)
      Objective: Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the prevalence, genotypes, phenotypic spectrum, ...
    • In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins 

      Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild (Peer reviewed; Journal article, 2017)
      Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 (STUB1) gene encoding the ubiquitin E3 ligase and dimeric co-chaperone C-terminus ...
    • Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature 

      Rafaelsen, Silje Hjorth; Johansson, Stefan; Ræder, Helge; Bjerknes, Robert (Peer reviewed; Journal article, 2014-09-24)
      Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading ...
    • MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing 

      Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche; Boman, Helge; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2013-01-03)
      Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ...
    • Novel loci associated with attention-deficit/hyperactivity disorder are revealed by leveraging polygenic overlap with educational attainment 

      Shadrin, Alexey A.; Smeland, Olav Bjerkehagen; Zayats, Tetyana; Schork, Andrew J; Frei, Oleksandr; Bettella, Francesco; Witoelar, Aree; Li, Wen; Eriksen, Jon Alm; Krull, Florian; Djurovic, Srdjan; Faraone, Stephen V.; Reichborn-Kjennerud, Ted; Thompson, Wesley K; Johansson, Stefan; Haavik, Jan; Dale, Anders; Wang, Yunpeng; Andreassen, Ole Andreas (Peer reviewed; Journal article, 2018-02)
      Objective Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable psychiatric condition. By exploiting the reported relationship between ADHD and educational attainment (EA), we aimed to improve ...
    • 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 ...
    • 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 ...
    • 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 ...
    • 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 ...
    • 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 ...