Blar i Department of Clinical Science på tittel

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    • 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 ...

    • Genetic effects on the timing of parturition and links to fetal birth weight 

      Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur; Vaudel, Marc; Juodakis, Julius; Chen, Jing; Laisk, Triin; LaBella, Abigail L.; Westergaard, David; Bacelis, Jonas; Brumpton, Ben Michael; Skotte, Line; Borges, Maria C.; Helgeland, Øyvind; Mahajan, Anubha; Wielscher, Matthias; Lin, Frederick; Briggs, Catherine; Wang, Carol A.; Moen, Gunn-Helen Øiseth; Beaumont, Robin N.; Bradfield, Jonathan P.; Abraham, Abin; Thorleifsson, Gudmar; Gabrielsen, Maiken Elvestad; Ostrowski, Sisse R.; Modzelewska, Dominika; Nøhr, Ellen Aagaard; Hypponen, Elina; Srivastava, Amit; Talbot, Octavious; Allard, Catherine; Williams, Scott M.; Menon, Ramkumar; Shields, Beverley M.; Sveinbjornsson, Gardar; Xu, Huan; Melbye, Mads; Lowe, William; Bouchard, Luigi; Oken, Emily; Pedersen, Ole B.; Gudbjartsson, Daniel F.; Erikstrup, Christian; Sørensen, Erik; Lie, Rolv T.; Teramo, Kari; Hallman, Mikko; Juliusdottir, Thorhildur; Hakonarson, Hakon; Ullum, Henrik; Hattersley, Andrew T.; Sletner, Line; Merialdi, Mario; Rifas-Shiman, Sheryl L.; Steingrimsdottir, Thora; Scholtens, Denise; Power, Christine; West, Jane; Nyegaard, Mette; Capra, John A.; Skogholt, Anne Heidi; Magnus, Per Minor; Andreassen, Ole; Thorsteinsdottir, Unnur; Grant, Struan F. A.; Qvigstad, Elisabeth; Pennell, Craig E.; Hivert, Marie-France; Hayes, Geoffrey M.; Jarvelin, Marjo-Riitta; McCarthy, Mark I.; Lawlor, Deborah A.; Nielsen, Henriette S.; Mägi, Reedik; Rokas, Antonis; Hveem, Kristian; Stefansson, Kari; Feenstra, Bjarke; Njølstad, Pål Rasmus; Muglia, Louis J.; Freathy, Rachel M.; Johansson, Stefan; Zhang, Ge; Jacobsson, Bo (Journal article; Peer reviewed, 2023)
      The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), ...

    • Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development 

      Li, Yafang; Xiao, Xiangjun; Bossé, Yohan; Gorlova, Olga; Gorlov, Ivan; Han, Younghun; Byun, Jinyoung; Leighl, Natasha; Johansen, Jakob S.; Barnett, Matt; Chen, Chu; Goodman, Gary; Cox, Angela; Taylor, Fiona; Woll, Penella; Wichmann, Erich; Manz, Judith; Muley, Thomas; Risch, Angela; Rosenberger, Albert; Han, Jiali; Siminovitch, Katherine; Arnold, Susanne; Haura, Eric B.; Bolca, Ciprian; Holcátová, Ivana; Janout, Vladimir; Kontic, Milica; Lissowska, Jolanta; Mukeria, Anush; Ognjanovic, Simona; Orlowski, Tadeusz M.; Scelo, Ghislaine; Swiatkowska, Beata; Zaridze, David; Bakke, Per S.; Skaug, Vidar; Zienolddiny, Shanbeh; Duell, Eric J.; Butler, Lesley M.; Houlston, Richard; Artigas, Maria Soler; Grankvist, Kjell; Johansson, Mikael; Shepherd, Frances A.; Marcus, Michael; Brunnström, Hans; Manjer, Jonas; Melander, Olle; Muller, David C.; Overvad, Kim; Trichopoulou, Antonia; Tumino, Rosaria; Liu, Geoffrey; Bojesen, Stig; Wu, Xifeng; Le Marchand, Loic; Albanes, Demetrios; Bickeböller, Heike; Aldrich, Melinda C.; Bush, William S.; Tardon, Adonina; Rennert, Gad; Teare, M. Dawn; Field, John K.; Kiemeney, Lambertus A.; Lazarus, Philip; Haugen, Aage; Lam, Stephen; Schabath, Matthew B.; Andrew, Angeline S.; Bertazzi, Pier Alberto; Pesatori, Angela C.; Christiani, David C.; Caporaso, Neil; Johansson, Mattias; McKay, James D.; Brennan, Paul; Hung, Rayjean J.; Amos, Christopher I. (Peer reviewed; Journal article, 2019)
      The development of cancer is driven by the accumulation of many oncogenesis-related genetic alterationsand tumorigenesis is triggered by complex networks of involved genes rather than independent actions. To explore the ...

    • Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes 

      Drange, Ole Kristian; Smeland, Olav Bjerkehagen; Shadrin, Alexey A.; Finseth, Per Ivar; Witoelar, Aree; Frei, Oleksandr; Wang, Yunpeng; Hassani, Sahar; Djurovic, Srdjan; Dale, Anders M; Andreassen, Ole Andreas (Peer reviewed; Journal article, 2019-03-13)
      Background: Alzheimer’s disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD ...

    • Genetic Overlap Between Global Cortical Brain Structure, C-Reactive Protein, and White Blood Cell Counts 

      Parker, Nadine; Cheng, Weiqiu; Hindley, Guy; O'Connell, Kevin Sean; Karthikeyan, Sandeep; Holen, Børge; Shadrin, Alexey; Rahman, Zillur; Karadag, Naz; Bahrami, Shahram; Lin, Aihua; Steen, Nils Eiel; Ueland, Thor; Aukrust, Pål; Djurovic, Srdjan; Dale, Anders; Smeland, Olav Bjerkehagen; Frei, Oleksandr; Andreassen, Ole (Journal article; Peer reviewed, 2024)
      Background For many brain disorders, a subset of patients jointly exhibit alterations in cortical brain structure and elevated levels of circulating immune markers. This may be driven in part by shared genetic architecture. ...

    • Genetic Predictors of Comorbid Course of COVID-19 and MAFLD: A Comprehensive Analysis 

      Buchynskyi, Mykhailo; Oksenych, Valentyn; Kamyshna, Iryna; Vari, Sandor G.; Kamyshnyi, Aleksandr (Journal article; Peer reviewed, 2023)
      Metabolic-associated fatty liver disease (MAFLD) and its potential impact on the severity of COVID-19 have gained significant attention during the pandemic. This review aimed to explore the genetic determinants associated ...

    • Genetic relatedness and risk factor analysis of ampicillin-resistant and high-level gentamicin-resistant enterococci causing bloodstream infections in Tanzanian children 

      Aamodt, Håvard; Mohn, Stein Christian; Maselle, Samuel Y; Manji, Karim P.; Willems, Rob; Jureen, Roland; Langeland, Nina; Blomberg, Bjørn (Peer reviewed; Journal article, 2015-02-28)
      Background While enterococci resistant to multiple antimicrobials are spreading in hospitals worldwide, causing urinary tract, wound and bloodstream infections, there is little published data on these infections from Africa. ...

    • Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease 

      Lee, Jin H.; Cho, Michael H.; Hersh, Craig P.; McDonald, Merry-Lynn N.; Crapo, James D.; Bakke, Per; Gulsvik, Amund; Comellas, Alejandro P.; Wendt, Christine H.; Lomas, David A.; Kim, Victor; Silverman, Edwin K.; on behalf of the COPDGene and ECLIPSE Investigators (Peer reviewed; Journal article, 2014-09-21)
      Background: Chronic bronchitis (CB) is one of the classic phenotypes of COPD. The aims of our study were to investigate genetic variants associated with COPD subjects with CB relative to smokers with normal spirometry, and ...

    • Genetic variability of proteins involved in metronidazole metabolism and detoxification in Giardia lamblia 

      Saghaug, Christina Skår (Doctoral thesis, 2021-12-09)
      Metronidazole (MTZ) treatment-refractory Giardia lamblia infections is an emerging global problem. Recent studies show that prevalence rates of refractory infections are 10-20 % and can be as high as 46 %. The recent global ...

    • Genetic variants at the RTP4/MASP1 locus are associated with fatigue in Scandinavian patients with primary Sjögren’s syndrome 

      Norheim, Katrine Brække; Imgenberg-Kreuz, Juliana; Alexsson, Andrei; Johnsen, Svein Joar Auglæn; Bårdsen, Kjetil; Brun, Johan Gorgas; Dehkordi, Rezvan Kiani; Theander, Elke; Mandl, Thomas; Jonsson, Roland; Ng, Wan-Fai; Lessard, Christopher J; Rasmussen, Astrid; Sivilis, Kathy; Rönnblom, Lars; Omdal, Roald (Journal article; Peer reviewed, 2021)
      Objectives Fatigue is common and severe in primary Sjögren’s syndrome (pSS). The aim of this study was to identify genetic determinants of fatigue in pSS through a genome-wide association study. Methods Patients with ...

    • Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes 

      Stokowy, Tomasz; Polushina, Tatiana; Sønderby, Ida Elken; Karlsson, Robert; Giddaluru, Sudheer; Le Hellard, Stephanie; Bergen, Sarah E; Sullivan, Patrick F; Andreassen, Ole Andreas; Djurovic, Srdjan; Hultman, Christina M.; Steen, Vidar Martin (Peer reviewed; Journal article, 2018-05-02)
      Schizophrenia is a serious psychotic disorder with high heritability. Several common genetic variants, rare copy number variants and ultra-rare gene-disrupting mutations have been linked to disease susceptibility, but there ...

    • Genetic variation in metronidazole metabolism and oxidative stress pathways in clinical giardia lamblia assemblage A and B isolates 

      Saghaug, Christina Skår; Klotz, Christian; Kallio, Juha Pekka; Brattbakk, Hans-Richard; Stokowy, Tomasz; Aebischer, Toni; Kursula, Inari; Langeland, Nina; Hanevik, Kurt (Peer reviewed; Journal article, 2019-05-10)
      Purpose: Treatment-refractory Giardia cases have increased rapidly within the last decade. No markers of resistance nor a standardized susceptibility test have been established yet, but several enzymes and their pathways ...

    • Genetics and pathophysiology of haemophagocytic lymphohistiocytosis 

      Meeths, Marie; Bryceson, Yenan (Journal article; Peer reviewed, 2021)
      Haemophagocytic lymphohistiocytosis (HLH) represents a life-threatening hyperinflammatory syndrome. Familial studies have established autosomal and X-linked recessive causes of HLH, highlighting a pivotal role for lymphocyte ...

    • Genetics of diabetes-associated microvascular complications 

      Lyssenko, Valeriya; Vaag, Allan (Journal article; Peer reviewed, 2023)
      Diabetes is associated with excess morbidity and mortality due to both micro- and macrovascular complications, as well as a range of non-classical comorbidities. Diabetes-associated microvascular complications are those ...

    • Genetics of Sputum Gene Expression in Chronic Obstructive Pulmonary Disease 

      Qiu, Weiliang; Cho, Michael H.; Riley, John H.; Anderson, Wayne H.; Singh, Dave; Bakke, Per; Gulsvik, Amund; Litonjua, Augusto A.; Lomas, David A.; Crapo, James D.; Beaty, Terri H.; Celli, Bartolome R.; Rennard, Stephen I.; Tal-Singer, Ruth; Fox, Steven M.; Silverman, Edwin K.; Hersh, Craig P. (Peer reviewed; Journal article, 2011-09-16)
      Previous expression quantitative trait loci (eQTL) studies have performed genetic association studies for gene expression, but most of these studies examined lymphoblastoid cell lines from non-diseased individuals. We ...

    • Genetics of vestibular schwannoma : Genetic landscape of irradiated and radiation-naïve benign and malignant vestibular schwannoma 

      Håvik, Aril Løge (Doctoral thesis, 2022-05-06)
      Background: Vestibular schwannoma (VS) is a benign intracranial neoplasm associated with reduced quality of life. Malignant peripheral nerve sheath tumor of the vestibular nerve (VN-MPNST) is the malignant counterpart, an ...

    • Genome wide response to dietary tetradecylthioacetic acid supplementation in the heart of Atlantic Salmon (Salmo salar L.) 

      Grammes, Fabian; Rørvik, Kjell-Arne; Thomassen, Magny S.; Berge, Rolf Kristian; Takle, Harald Rune (Peer reviewed; Journal article, 2012-05-11)
      Background: Under-dimensioned hearts causing functional problems are associated with higher mortality rates in intensive Atlantic salmon aquaculture. Previous studies have indicated that tetradecylthioacetic acid (TTA) ...

    • Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression 

      Holen, Børge; Shadrin, Alexey; Icick, Romain; Filiz, Tahir Tekin; Hindley, Guy Frederick Lanyon; Rødevand, Linn; O'Connell, Kevin Sean; Hagen, Espen; Frei, Oleksandr; Bahrami, Shahram; Cheng, Weiqiu; Parker, Nadine; Woldeyohannes, Markos Tesfaye; Jaholkowski, Piotr Pawel; Karadag, Naz; Dale, Anders M; Djurovic, Srdjan; Smeland, Olav Bjerkehagen; Andreassen, Ole (Journal article; Peer reviewed, 2023)
      Opioid use disorder (OUD) and mental disorders are often comorbid, with increased morbidity and mortality. The causes underlying this relationship are poorly understood. Although these conditions are highly heritable, their ...

    • Genome-wide analysis of anorexia nervosa and major psychiatric disorders and related traits reveals genetic overlap and identifies novel risk loci for anorexia nervosa 

      Bang, Lasse; Bahrami, Shahram; Hindley, Guy; Smeland, Olav Bjerkehagen; Rødevand, Linn; Jaholkowski, Piotr Pawel; Shadrin, Alexey; O'Connell, Kevin Sean; Frei, Oleksandr; Lin, Aihua; Rahman, Zillur; Cheng, Weiqiu; Parker, Nadine; Fan, Chun C.; Dale, Anders M.; Djurovic, Srdjan; Bulik, Cynthia M.; Andreassen, Ole (Journal article; Peer reviewed, 2023)
      Anorexia nervosa (AN) is a heritable eating disorder (50–60%) with an array of commonly comorbid psychiatric disorders and related traits. Although significant genetic correlations between AN and psychiatric disorders and ...

    • Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence 

      Smeland, Olav Bjerkehagen; Bahrami, Shahram; Frei, Oleksandr; Shadrin, Alexey A.; O'Connell, Kevin; Savage, Jeanne E.; Watanabe, Kyoko; Krull, Florian; Bettella, Francesco; Steen, Nils Eiel; Ueland, Torill; Posthuma, Danielle; Djurovic, Srdjan; Dale, Anders; Andreassen, Ole Andreas (Peer reviewed; Journal article, 2019)
      Schizophrenia (SCZ) and bipolar disorder (BD) are severe mental disorders associated with cognitive impairment, which is considered a major determinant of functional outcome. Despite this, the etiology of the cognitive ...