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    • Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder 

      Gudmundsson, Ólafur Ó.; Walters, Gudmundur Bragi; Ingason, Andrés; Johansson, Stefan; Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Gustafsson, Omar; Nawaz, Muhammad Sulaman; Jónsson, Gudbjörn F.; Jónsson, Lina; Knappskog, Per; Ingvarsdóttir, Ester; Davidsdóttir, Katrin; Djurovic, Srdjan; Knudsen, Gun Peggy Strømstad; Askeland, Ragna Bugge; Haraldsdóttir, Gyda S.; Baldursson, Gísli; Magnússon, Páll; Sigurdsson, Engilbert; Gudbjartsson, Daníel Fannar; Stéfansson, Hreinn; Andreassen, Ole Andreas; Haavik, Jan; Reichborn-Kjennerud, Ted; Stefánsson, Kári (Peer reviewed; Journal article, 2019-10-17)
      Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as ...

    • Attenuated Notch signaling in schizophrenia and bipolar disorder 

      Hoseth, Eva Zsuzsanna; Krull, Florian; Dieset, Ingrid; Mørch, Ragni Helene; Hope, Sigrun; Gardsjord, Erlend Strand; Steen, Nils Eiel; Melle, Ingrid; Brattbakk, Hans-Richard; Steen, Vidar Martin; Aukrust, Pål; Djurovic, Srdjan; Andreassen, Ole Andreas; Ueland, Thor (Peer reviewed; Journal article, 2018-03-28)
      The Notch signaling pathway plays a crucial role in neurodevelopment and in adult brain homeostasis. We aimed to further investigate Notch pathway activity in bipolar disorder (BD) and schizophrenia (SCZ) by conducting a ...

    • Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health 

      Johannessen, Jarle; Nærland, Terje; Hope, Sigrun; Torske, Tonje; Kaale, Anett; Wirgenes, Katrine V.; Malt, Eva; Djurovic, Srdjan; Rietschel, Marcella; Andreassen, Ole A. (Journal article; Peer reviewed, 2021)
      Clinical relevance of genetic testing is increasing in autism spectrum disorder (ASD). Information about genetic risk may contribute to improved diagnostics, treatment and family planning, but may also be perceived as a ...

    • Atypical (non-V600E) BRAF mutations in metastatic colorectal cancer in population and real-world cohorts 

      Osterlund, Emerik; Ristimäki, Ari; Mäkinen, Markus J.; Kytölä, Soili; Kononen, Juha; Pfeiffer, Per; Soveri, Leena-Maija; Keinänen, Mauri; Sorbye, Halfdan; Nunes, Luís; Salminen, Tapio; Nieminen, Lasse; Uutela, Aki; Halonen, Päivi; Ålgars, Annika; Sundström, Jari; Kallio, Raija; Ristamäki, Raija; Lamminmäki, Annamarja; Stedt, Hanna; Heervä, Eetu; Kuopio, Teijo; Sjöblom, Tobias; Isoniemi, Helena; Glimelius, Bengt; Osterlund, Pia (Journal article; Peer reviewed, 2023)
      BRAF-V600E mutation (mt) is a strong negative prognostic and predictive biomarker in metastatic colorectal cancer (mCRC). Non-V600Emt, designated atypical BRAFmt (aBRAFmt) are rare, and little is known about their frequency, ...

    • Augmented CD4+ T-cell and humoral responses after repeated annual influenza vaccination with the same vaccine component A/H1N1pdm09 over 5 years 

      Trieu, Mai Chi; Zhou, Fan; Jalloh, Sarah Larteley Lartey; Sridhar, Saranya; Mjaaland, Siri; Cox, Rebecca Jane (Peer reviewed; Journal article, 2018-08-14)
      Annual seasonal influenza vaccination is recommended for high-risk populations and often occupational groups such as healthcare workers (HCWs). Repeated annual vaccination has been reported to either have no impact or ...

    • Autoantibodies against type I IFNs in patients with life-threatening COVID-19 

      Bastard, Paul; Rosen, Lindsey B.; Zhang, Qian; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Zhang, Yu; Dorgham, Karim; Philippot, Quentin; Rosain, Jérémie; Béziat, Vivien; Manry, Jérémy; Shaw, Elana; Haljasmägi, Liis; Peterson, Pärt; Lorenzo, Lazaro; Bizien, Lucy; Trouillet-Assant, Sophie; Dobbs, Kerry; de Jesus, Adriana Almeida; Belot, Alexandre; Kallaste, Anne; Catherinot, Emilie; Tandjaoui-Lambiotte, Yacine; Le Pen, Jeremie; Kerner, Gaspard; Bigio, Benedetta; Seeleuthner, Yoann; Yang, Rui; Bolze, Alexandre; Spaan, András N; Delmonte, Ottavia M.; Abers, Michael S.; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Piemonti, Lorenzo; Ciceri, Fabio; Bilguvar, Kaya; Lifton, Richard P.; Vasse, Marc; Smadja, David M.; Migaud, Mélanie; Hadjadj, Jérome; Terrier, Benjamin; Duffy, Darragh; Quintana-Murci, Lluis; van de Beek, Diederik; Roussel, Lucie; Vinh, Donald C.; Tangye, Stuart G.; Haerynck, Filomeen; Dalmau, David; Martinez-Picado, Javier; Brodin, Petter; Nussenzweig, Michel C.; Boisson-Dupuis, Stéphanie; Rodríguez-Gallego, Carlos; Vogt, Guillaume; Mogensen, Trine H.; Oler, Andrew J.; Gu, Jingwen; Burbelo, Peter D.; Cohen, Jeffrey I.; Biondi, Andrea; Bettini, Laura Rachele; D'Angio, Mariella; Bonfanti, Paolo; Rossignol, Patrick; Mayaux, Julien; Rieux-Laucat, Frédéric; Husebye, Eystein Sverre; Fusco, Francesca; Ursini, Matilde Valeria; Imberti, Luisa; Sottini, Alessandra; Paghera, Simone; Quiros-Roldan, Eugenia; Rossi, Camillo; Castagnoli, Riccardo; Montagna, Daniela; Licari, Amelia; Marseglia, Gian Luigi; Duval, Xavier; Ghosn, Jade; Tsang, John S.; Goldbach-Mansky, Raphaela; Kisand, Kai; Lionakis, Michail; Puel, Anne; Zhang, Shen-Ying; Holland, Steven M.; Gorochov, Guy; Jouanguy, Emmanuelle; Rice, Charles M.; Cobat, Aurelie; Notarangelo, Luigi D.; Abel, Laurent; Su, Helen C.; Casanova, Jean-Laurent (Journal article; Peer reviewed, 2020)
      Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 of 987 patients with life-threatening coronavirus disease ...

    • Autoantibody discovery across monogenic, acquired, and COVID-19-associated autoimmunity with scalable PhIP-seq 

      Vazquez, Sara E.; Mann, Sabrina A.; Bodansky, Aaron; Kung, Andrew F.; Quandt, Zoe; Ferré, Elise M N; Landegren, Nils; Eriksson, Daniel; Bastard, Paul; Zhang, Shen-Ying; Liu, Jamin; Mitchell, Anthea; Proekt, Irina; Yu, David; Mandel-Brehm, Caleigh; Wang, Chung-Yu; Miao, Brenda; Sowa, Gavin; Zorn, Kelsey; Chan, Alice Y.; Tagi, Veronica M.; Shimizu, Chisato; Tremoulet, Adriana; Lynch, Kara; Wilson, Michael R.; Kämpe, Olle; Dobbs, Kerry; Delmonte, Ottavia M.; Bacchetta, Rosa; Notarangelo, Luigi D.; Burns, Jane C.; Casanova, Jean-Laurent; Lionakis, Michail S.; Torgerson, Troy R.; Anderson, Mark S.; DeRisi, Joseph L. (Journal article; Peer reviewed, 2022)
      Phage immunoprecipitation sequencing (PhIP-seq) allows for unbiased, proteome-wide autoantibody discovery across a variety of disease settings, with identification of disease-specific autoantigens providing new insight ...

    • Autoantigenic properties of the aminoacyl tRNA synthetase family in idiopathic inflammatory myopathies 

      Preger, Charlotta; Notarnicola, Antonella; Hellström, Cecilia; Wigren, Edvard; Fernandes-Cerqueira, Cátia; Kvarnström, Marika; Wahren Herlenius, Marie Elisabeth; Idborg, Helena; Lundberg, Ingrid E.; Persson, Helena; Gräslund, Susanne; Jakobsson, Per-Johan (Journal article; Peer reviewed, 2023)
      Objectives: Autoantibodies are thought to play a key role in the pathogenesis of idiopathic inflammatory myopathies (IIM). However, up to 40% of IIM patients, even those with clinical manifestations of anti-synthetase ...

    • Autocrine activation of MAPK signaling mediates intrinsic tolerance to androgen deprivation in LY6D prostate cancer cells 

      Steiner, Ivana; Flores-Tellez, Teresita del N.J.; Mevel, Renaud; Ali, Amin; Wang, Pengbo; Schofield, Pieta; Behan, Caron; Forsythe, Nicholas; Ashton, Garry; Taylor, Catherine; Mills, Ian Geoffrey; Oliveira, Pedro; McDade, Simon S.; Zaiss, Dietmar M.; Choudhury, Ananya; Lacaud, Georges; Baena, Esther (Journal article; Peer reviewed, 2023)
      The emergence of castration-resistant prostate cancer remains an area of unmet clinical need. We recently identified a subpopulation of normal prostate progenitor cells, characterized by an intrinsic resistance to androgen ...

    • Autoimmune polyendocrine syndrome type I. Novel diagnostic assays and immune regulation 

      Oftedal, Bergithe E. V. (Doctoral thesis, 2012-02-10)
      Autoimmune polyendocrine syndrome type I (APS-I) is a rare, monogenetic recessively inherited disease caused by mutations in the autoimmune regulator (AIRE) gene. The patients display different endocrine and ectodermal ...

    • Autoimmune primary adrenal insufficiency – autoantibodies and cell regeneration 

      Rahman, Md Obaidur (Doctoral thesis, 2024-02-02)
      Autoimmun primær binyrebarksvikt er en sjelden lidelse som skyldes autoimmun ødeleggelse av binyrebarken, og foreløpig finnes det ingen kurativ behandling. Her undersøkte vi to distinkte aspekter ved sykdommen, en molekylær ...

    • Autoimmune Thyroid Disorders in Autoimmune Addison Disease 

      Stokland, Ann-Elin Meling; Ueland, Grethe Åstrøm; Lima, Kari; Grønning, Kaja; Finnes, Trine Elisabeth; Svendsen, Margrethe; Tomkowicz, Aneta Ewa; Holte, Synnøve Emblem; Sollid, Stina Therese; Debowska, Aleksandra; Singsås, Hallvard; Rensvik, Marthe Landsverk; Lejon, Helle; Sørmo, Dag-Erik; Svare, Anders; Blika, Sigrid; Milova, Petya; Korsgaard, Elin; Husby, Øystein; Breivik, Lars Ertesvåg; Jørgensen, Anders Palmstrøm; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2022)
      Context: Autoimmune thyroid disease is the most common endocrine co-morbidity in autoimmune Addison's disease (AAD), but detailed investigations of prevalence and clinical course is lacking. Objective: Provide comprehensive ...

    • Autoimmunity and viral immunity in Addison’s disease 

      Waade Edvardsen, Kine Susann (Doctoral thesis, 2015-11-27)
      Autoimmune Addison’s disease (AAD) is caused by an immunological destruction of the steroid producing cells of the adrenal cortex. Both genetic and environmental factors are involved in disease development, and while ...

    • Automatic Estimation of Coronary Blood Flow Velocity Step 1 for Developing a Tool to Diagnose Patients With Micro-Vascular Angina Pectoris 

      Khanmohammadi, Mahdieh; Sæland, Charlotte; Engan, Kjersti; Eftestøl, Trygve Christian; Larsen, Alf Inge (Peer reviewed; Journal article, 2019-01-22)
      Aim: Our aim was to automatically estimate the blood velocity in coronary arteries using cine X-ray angiographic sequence. Estimating the coronary blood velocity is a key approach in investigating patients with angina ...

    • Autotaxin activity predicts transplant-free survival in primary sclerosing cholangitis 

      Dhillon, Amandeep Kaur; Kremer, Andreas E.; Kummen, Martin; Boberg, Kirsten Muri; Elferink, Ronald P. Oude; Karlsen, Tom Hemming; Beuers, Ulrich; Vesterhus, Mette; Hov, Johannes Espolin Roksund (Peer reviewed; Journal article, 2019-06-11)
      Autotaxin has been associated with liver disease severity and transplant-free survival. This study aimed to validate autotaxin as a biomarker in two cohorts of Norwegian large-duct PSC patients, one discovery panel (n=165) ...

    • Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios 

      Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind; Modzelewska, Dominika; Vaudel, Marc; Flatley, Christopher; Andreassen, Ole; Njølstad, Pål Rasmus; Muglia, Louis J.; Johansson, Stefan; Zhang, Ge; Jacobsson, Bo (Journal article; Peer reviewed, 2020)
      Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring ...

    • Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function 

      Meisgen, Sabrina; Hedlund, Malin; Ambrosi, Aurelie; Folkersen, Lasse; Ottosson, Vijole; Forsberg, David; Thorlacius, Gudny Ella; Biavati, Luca; Strandberg, Linn; Mofors, Johannes; Ramskold, Daniel; Ruhrmann, Sabrina; Meneghel, Lauro; Nyberg, William; Espinosa, Alexander; Hamilton, Robert Murray; Franco-Cereceda, Anders; Hamsten, Anders; Olsson, Tomas; Greene, Lois; Eriksson, Per; Gemzell-Danielsson, Kristina; Salomonsson, Stina; Kuchroo, Vijay K; Herlenius, Eric; Kockum, Ingrid; Sonesson, Sven-Erik; Herlenius, Marie Elisabeth Wahren (Journal article; Peer reviewed, 2022)
      Objective: Neonatal lupus erythematosus (NLE) may develop after transplacental transfer of maternal autoantibodies with cardiac manifestations (congenital heart block, CHB) including atrioventricular block, atrial and ...

    • Availability of extended-release naltrexone may increase the number of opioid-dependent individuals in treatment: Extension of a randomized clinical trial 

      Solli, Kristin Klemmetsby; Kunøe, Nikolaj; Latif, Zill-E-Huma; Haase, Kamni Sharma; Opheim, Arild; Krajci, Peter; Gaulen, Zhanna; Saltyte Benth, Jurate; Tanum, Lars Håkon Reiestad (Journal article; Peer reviewed, 2019)
      Background and objective: Opioid maintenance treatment (OMT) is highly available in Norway, but only 50% of opioid-dependent individuals are enrolled in such programs. This study was aimed at examining if availability of ...

    • Avoiding organelle mutational meltdown across eukaryotes with or without a germline bottleneck 

      Edwards, David; Røyrvik, Ellen Christine; Chustecki, Joanne; Giannakis, Konstantinos; Glastad, Robert Clay; Radzvilavicius, Arunas; Johnston, Iain (Journal article; Peer reviewed, 2021)
      Mitochondrial DNA (mtDNA) and plastid DNA (ptDNA) encode vital bioenergetic apparatus, and mutations in these organelle DNA (oDNA) molecules can be devastating. In the germline of several animals, a genetic “bottleneck” ...

    • B cell specificity and pattern in primary Sjögren’s syndrome - Studies in humans and a murine model 

      Aqrawi, Lara Adnan (Doctoral thesis, 2014-04-30)
      Sjögren’s syndrome (SS) is a chronic autoimmune disease characterised by focal inflammation of exocrine glands, particularly salivary and lacrimal glands. Here, mononuclear cells, including B cells, infiltrate the glands, ...