Now showing items 21-40 of 48

    • FTO, Type 2 Diabetes, and Weight Gain Throughout Adult Life: A Meta-Analysis of 41,504 Subjects From the Scandinavian HUNT, MDC, and MPP Studies 

      Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily; Jonsson, Anna; Lie, Rolv Terje; Platou, Carl G. P.; Nilsson, Peter M.; Rukh, Gull; Midthjell, Kristian; Hveem, Kristian; Melander, Olle; Groop, Leif; Lyssenko, Valeriya; Molven, Anders; Orho-Melander, Marju; Njølstad, Pål Rasmus (Research report; Peer reviewed, 2011-05)
      OBJECTIVE—FTO is the most important polygene identified for obesity. We aimed to investigate whether a variant in FTO affects type 2 diabetes risk entirely through its effect on BMI and how FTO influences BMI across adult ...
    • GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies 

      Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2017-01-04)
      Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families ...
    • The genetic architecture of sporadic and multiple consecutive miscarriage 

      Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa; Painter, Jodie N.; Censin, Jenny C.; Laber, Samantha; Bacelis, Jonas; Chen, Chia-Yen; Lepamets, Maarja; Lin, Kuang; Liu, Siyang; Millwood, Iona Y.; Ramu, Avinash; Southcombe, Jennifer; Andersen, Marianne S.; Yang, Ling; Becker, Christian M.; Børglum, Anders D.; Gordon, Scott D.; Bybjerg-Grauholm, Jonas; Helgeland, Øyvind; Hougaard, David M.; Jin, Xin; Johansson, Stefan; Juodakis, Julius; Kartsonaki, Christina; Kukushkina, Viktorija; Lind, Penelope A.; Metspalu, Andres; Montgomery, Grant W.; Morris, Andrew P.; Mors, Ole; Mortensen, Preben B.; Njølstad, Pål Rasmus; Nordentoft, Merete; Nyholt, Dale R.; Lippincott, Margaret; Seminara, Stephanie; Salumets, Andres; Snieder, Harold; Zondervan, Krina; Werge, Thomas; Chen, Zhengming; Conrad, Donald F.; Jacobsson, Bo; Li, Liming; Martin, Nicholas G.; Neale, Benjamin M.; Nielsen, Rasmus; Walters, Robin G. (Journal article; Peer reviewed, 2020)
      Miscarriage is a common, complex trait affecting ~15% of clinically confirmed pregnancies. Here we present the results of large-scale genetic association analyses with 69,054 cases from five different ancestries for sporadic ...
    • Genetic association study of childhood aggression across raters, instruments, and age 

      Ip, Hill F.; van der Laan, Camiel M.; Krapohl, Eva M. L.; Brikell, Isabell; Sánchez-Mora, Cristina; Nolte, Ilja M.; Pourcain, Beate St; Bolhuis, Koen; Palviainen, Teemu; Zafarmand, Hadi; Colodro-Conde, Lucía; Gordon, Scott; Zayats, Tetyana; Aliev, Fazil; Jiang, Chang; Wang, Carol A.; Saunders, Gretchen; Karhunen, Ville; Hammerschlag, Anke R.; Adkins, Daniel E.; Border, Richard; Peterson, Roseann E.; Prinz, Joseph A.; Thiering, Elisabeth; Seppälä, Iikka; Vilor-Tejedor, Natàlia; Ahluwalia, Tarunveer S.; Day, Felix R.; Hottenga, Jouke-Jan; Allegrini, Andrea G.; Rimfeld, Kaili; Chen, Qi; Yi, Lu; Martin, Joanna; Soler Artigas, Marìa; Rovira, Paula; Bosch, Rosa; Español, Gemma; Ramos-Quiroga, Josep Antonio; Neumann, Alexander; Haavik, Jan; Harris, Jennifer Ruth; Helgeland, Øyvind; Johansson, Stefan; Knudsen, Gun Peggy Strømstad; Njølstad, Pål Rasmus; Havdahl, Alexandra; Magnus, Per Minor; Reichborn-Kjennerud, Ted; Boomsma, Dorret I. (Journal article; Peer reviewed, 2021)
      Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from ...
    • Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 

      Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2021)
      Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ...
    • Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder 

      Jacobsen, Kaya Kvarme; Nievergelt, Caroline M.; Zayats, Tetyana; Greenwood, Tifany A.; Anttila, Verneri; Akiskal, Hagop Souren; Haavik, Jan; Fasmer, Ole Bernt; Kelsoe, John R.; Johansson, Stefan; Ødegaard, Ketil Joachim (Peer reviewed; Journal article, 2015-10-12)
      Background. Migraine is a common comorbidity among individuals with bipolar disorder, but the underlying mechanisms for this co-occurrence are poorly understood. The aim of this study was to investigate the genetic background ...
    • Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder 

      Brevik, Erlend Joramo; van Donkelaar, Marjolein M J; Weber, Heike; Sanchez-Mora, Cristina; Jacob, Christian; Rivero, Olga; Kittel-Schneider, Sarah; Garcia-Martinez, Iris; Aebi, Marcel; van Hulzen, Kimm; Cormand, Bru; Ramos-Quiroga, Josep A; Lesch, Klaus-Peter; Reif, Andreas; Ribases, Marta; Franke, Barbara; Posserud, Maj-Britt Rocio; Johansson, Stefan; Lundervold, Astri; Haavik, Jan; Zayats, Tetyana (Peer reviewed; Journal article, 2016-03-29)
      Aggressiveness is a behavioral trait that has the potential to be harmful to individuals and society. With an estimated heritability of about 40%, genetics is important in its development. We performed an exploratory ...
    • 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 ...
    • 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 ...
    • 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 ...