• Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples 

  Holmgren, Asbjørn; Akkouh, Ibrahim Ahmed; O'Connell, Kevin Sean; Requena Osete, Jordi; Bjørnstad, Pål Marius; Djurovic, Srdjan; Hughes, Timothy (Journal article; Peer reviewed, 2024)

  Bipolar disorder is a severe neuro-psychiatric condition where genome-wide association and sequencing studies have pointed to dysregulated gene expression as likely to be causal. We observed strong correlation in expression ...

• Acute myeloid leukemia with rare recurring translocations—an overview of the entities included in the international consensus classification 

  Rørvik, Synne Dragesund; Torkildsen, Synne; Bruserud, Øystein; Tvedt, Tor Henrik Anderson (Journal article; Peer reviewed, 2024)

  Two different systems exist for subclassification of acute myeloid leukemia (AML); the World Health Organization (WHO) Classification and the International Consensus Classification (ICC) of myeloid malignancies. The two ...

• A Fast-Forward Dilute-and-Shoot Multielement Method for Analysis of 33 Elements in Human Whole Blood, Serum, and Urine by Inductively Coupled Plasma Mass Spectrometry: A Streamlined Approach for Clinical Diagnostic and Biomonitoring 

  Huber, Sandra; Michel, Jörg; Reijnen, Maurice; Averina, Maria; Bolann, Bjørn; Odland, Jon Øyvind; Hansen, Solrunn; Brox, Jan (Journal article; Peer reviewed, 2024)

  The analysis of toxic and essential elements in human matrices is used in clinical diagnostics and for biomonitoring of different populations to study related health outcomes. This work aimed to develop fast and reliable ...

• Growth Restriction in the Offspring of Mothers With Polycystic Ovary Syndrome 

  Talmo, Maren Sophie Aaserud; Fløysand, Ingvild Skogedal; Nilsen, Guro Ørndal; Løvvik, Tone Shetelig; Ødegård, Rønnaug Astri; Juliusson, Pétur Benedikt; Vanky, Eszter Ilona; Simpson, Melanie Rae (Journal article; Peer reviewed, 2024)

  Importance Polycystic ovary syndrome (PCOS) is a common endocrine disorder, characterized by subfertility, increased risk of metabolic diseases, and pregnancy complications. Previous studies diverge regarding the association ...

• Unraveling the shared genetics of common epilepsies and general cognitive ability 

  Karadag, Naz; Hagen, Espen; Shadrin, Alexey; van der Meer, Dennis; O'Connell, Kevin Sean; Rahman, Mohammad Zillur; Kutrolli, Gleda; Parker, Nadine; Bahrami, Shahram; Fominykh, Vera; Heuser, Kjell; Taubøll, Erik; Ueland, Torill; Steen, Nils Eiel; Djurovic, Srdjan; Dale, Anders M; Frei, Oleksandr; Andreassen, Ole A.; Smeland, Olav Bjerkehagen (Journal article; Peer reviewed, 2024)

  Purpose Cognitive impairment is prevalent among individuals with epilepsy, and increasing evidence indicates that genetic factors can underlie this relationship. However, the extent to which epilepsy subtypes differ in ...

• The combination of pleconaril, rupintrivir, and remdesivir efficiently inhibits enterovirus infections in vitro, delaying the development of drug-resistant virus variants 

  Ianevski, Aleksandr; Frøysa, Irene Trøen; Lysvand, Hilde; Calitz, Carlemi; Smura, Teemu; Nilsen, Hans-Johnny; Høyer, Erling; Afset, Jan Egil; Sridhar, Adithya; Wolthers, Katja C.; Zusinaite, Eva; Tenson, Tanel; Kurg, Reet; Oksenych, Valentyn; Galabov, Angel S.; Stoyanova, Adelina; Bjørås, Magnar; Kaynov, Denis (Journal article; Peer reviewed, 2024)

  Enteroviruses are a significant global health concern, causing a spectrum of diseases from the common cold to more severe conditions like hand-foot-and-mouth disease, meningitis, myocarditis, pancreatitis, and poliomyelitis. ...

• Trakeobronkomalasi hos barn 

  Vaula, Sofie; Øymar, Knut Asbjørn Alexander; Hovland, Vegard; Matthews, Iren; Sachs-Strømmen, Christine; Skjerven, Håvard Ove; Crowley, Suzanne; Mikalsen, Ingvild Bruun (Journal article; Peer reviewed, 2024)

  Hensikten med denne kliniske oversikten er å beskrive symptomer og funn ved trakeobronkomalasi hos barn for å bidra til riktig diagnostikk og behandling. Symptomer og tegn varierer fra nedsatt fysisk utholdenhet, gjøende ...

• A high polygenic risk score is associated with SSA/SSB antibody positivity and early onset in primary Sjögren’s disease 

  Fugmann, Cecilia; Reid, Sarah; Pucholt, Pascal; Kvarnström, Marika; Björk, Albin; Mofors, Johannes; Sjöwall, Christopher; Eriksson, Per; Olsson, Peter; Mandl, Thomas; Forsblad-d’Elia, Helena; Bucher, Sara Magnusson; Johnsen, Svein Joar Auglæn; Norheim, Katrine Brække; Appel, Silke; Hammenfors, Daniel; Jensen, Janicke Liaaen; Palm, Øyvind; Omdal, Roald; Jonsson, Roland; Baecklund, Eva; Wahren Herlenius, Marie Elisabeth; Leonard, Dag; Imgenberg-Kreuz, Juliana; Nordmark, Gunnel (Journal article; Peer reviewed, 2024)

  Objectives To calculate a polygenic risk score (PRS) based on single nucleotide variants (SNVs) previously associated with primary Sjögren’s disease (SjD) with genome-wide significance and determine the genetic risk for ...

• Cortisol and C-reactive protein (CRP) regulation in severe mental disorders 

  Inova, Amina; Birkenæs, Viktoria; Quintana, Daniel; Ormerod, Monica Bettina E. Greenwood; Ueland, Torill; Ueland, Thor; Djurovic, Srdjan; Andreassen, Ole; Steen, Nils Eiel; Aas, Monica (Journal article; Peer reviewed, 2025)

  Background People with schizophrenia (SZ) and bipolar disorder (BD) show abnormalities in the biological stress system and low-grade inflammation. However, whether the hypothalamic-pituitary-adrenal (HPA) axis-immune ...

• Constitutional BRCA1 Epimutations: A Key for Understanding Basal-Like Breast and High-Grade Serous Ovarian Cancer 

  Lønning, Per Eystein; Nikolaienko, Oleksii; Knappskog, Stian (Journal article; Peer reviewed, 2024)

  Germline pathogenic genetic variants in the BRCA1 and BRCA2 genes are the most frequent causes of familial breast and ovarian cancer. Contrasting BRCA2, epimutations in the BRCA1 gene are frequently detected in tissue from ...

• Diagnosing Myocardial Injury in an Acute Chest Pain Cohort; Long-Term Prognostic Implications of Cardiac Troponin T and I 

  Saeed, Nasir; Steiro, Ole-Thomas; Langørgen, Jørund; Tjora, Hilde Lunde; Bjørneklett, Rune Oskar; Skadberg, Øyvind; Bonarjee, Vernon V S; Mjelva, Øistein; Norekvål, Tone Merete; Steinsvik, Trude; Vikenes, Kjell; Omland, Torbjørn; Aakre, Kristin Moberg (Journal article; Peer reviewed, 2024)

  Background There are limited data regarding the utility of follow-up cardiac troponin (cTn) measurements after admission for acute chest pain and how long-term stability of myocardial injury and prognostic value differ ...

• Elevated levels of peripheral and central nervous system immune markers reflect innate immune dysregulation in autism spectrum disorder 

  Szabo, Attila; O'Connell, Kevin Sean; Akkouh, Ibrahim Ahmed; Ueland, Thor; Sønderby, Ida Elken; Hope, Sigrun; Røe, Anne Berit; Dønnum, Monica Stolen; Sjaastad, Ingrid; Steen, Nils Eiel; Ueland, Torill; Sæther, Linn Sofie; Requena Osete, Jordi; Andreassen, Ole A.; Nærland, Terje; Djurovic, Srdjan (Journal article; Peer reviewed, 2024)

  Background: Evidence suggests dysregulated immune functions in the pathophysiology of Autism spectrum disorder (ASD), although specific immune mechanisms are yet to be identified. Methods: We assessed circulating levels ...

• Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort 

  Akerlund, Mikael; Baskozos, Georgios; Li, Wenqianglong; Themistocleous, Andreas C.; Pascal, Mathilde M.V.; Rayner, N. William; Attal, Nadine; Baron, Ralf; Baudic, Sophie; Bennedsgaard, Kristine; Bouhassira, Didier; Comini, Maddalena; Crombez, Geert; Faber, Catharina G.; Finnerup, Nanna B.; Gierthmühlen, Janne; Granovsky, Yelena; Gylfadottir, Sandra Sif; Hébert, Harry L.; Jensen, Troels Steenstrup; John, Jishi; Kemp, Harriet I.; Lauria, Giuseppe; Laycock, Helen; Meng, Weihua; Nilsen, Kristian Bernhard; Palmer, Colin; Rice, Andrew S.C.; Serra, Jordi; Smith, Blair H.; Tesfaye, Solomon; Topaz, Leah Shafran; Veluchamy, Abirami; Vollert, Jan; Yarnitsky, David; van Zuydam, Natalie; Zwart, John Anker Henrik; McCarthy, Mark I.; Lyssenko, Valeriya; Bennett, David L. (Journal article; Peer reviewed, 2024)

  We aimed to investigate the genetic associations of neuropathic pain in a deeply phenotyped cohort. Participants with neuropathic pain were cases and compared with those exposed to injury or disease but without neuropathic ...

• Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies 

  Aslaksen, Sigrid; Aukrust, Ingvild; Molday, Laurie; Holtan, Josephine Prener; Jansson, Ragnhild Wivestad; Berland, Siren; Rødahl, Eyvind; Bredrup, Cecilie; Bragadottir, Ragnheidur; Bratland, Eirik; Molday, Robert S.; Knappskog, Per Morten (Journal article; Peer reviewed, 2024)

  Purpose: Biallelic pathogenic variants in the gene encoding the ATP-binding cassette transporter ABCA4 are the leading cause of irreversible vision loss in inherited retinal dystrophies (IRDs). Interpretation of ABCA4 ...

• Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology 

  Karadag, Naz; Hagen, Espen; Shadrin, Alexey; van der Meer, Dennis; O'Connell, Kevin Sean; Rahman, Mohammad Zillur; Kutrolli, Gleda; Parker, Nadine; Bahrami, Shahram; Fominykh, Vera; Heuser, Kjell; Taubøll, Erik; Steen, Nils Eiel; Djurovic, Srdjan; Dale, Anders M; Frei, Oleksandr; Andreassen, Ole A.; Smeland, Olav Bjerkehagen (Journal article; Peer reviewed, 2024)

  Background and Objectives: Epilepsies are associated with differences in cortical thickness (TH) and surface area (SA). However, the mechanisms underlying these relationships remain elusive. We investigated the extent to ...

• Cell identity dynamics and insight into insulin secretagogues when employing stem cell-derived islets for disease modeling 

  Wang, Chencheng; Abadpour, Shadab; Aizenshtadt, Aleksandra; Dalmao-Fernandez, Andrea; Høyem, Merete; Wilhelmsen, Ingrid; Stokowiec, Justyna; Olsen, Petter Angell; Krauss, Stefan Johannes Karl; Chera, Simona; Ghila, Luiza Mihaela; Ræder, Helge; Scholz, Hanne (Journal article; Peer reviewed, 2024)

  Stem cell-derived islets (SC-islets) are not only an unlimited source for cell-based therapy of type 1 diabetes but have also emerged as an attractive material for modeling diabetes and conducting screening for treatment ...

• Interferon autoantibodies as signals of a sick thymus 

  Oftedal, Bergithe Eikeland; Sjøgren, Thea; Wolff, Anette Susanne Bøe (Journal article; Peer reviewed, 2024)

  Type I interferons (IFN-I) are key immune messenger molecules that play an important role in viral defense. They act as a bridge between microbe sensing, immune function magnitude, and adaptive immunity to fight infections, ...

• Carbamylation Is Instrumental in End-Stage Kidney Disease Coagulopathies: The Impact on von Willebrand Factor and Platelet Functionality 

  Babickova, Janka; Kalucka, Urszula Zofia; Sochaj-Grzegorczyk, Alicja; Potempa, Jan; Scavenius, Carsten; Knoop, Thomas; Marti, Hans Peter; Kaminska, Marta; Mydel, Piotr Mateusz (Journal article; Peer reviewed, 2025)

  Background Chronic kidney disease (CKD) is a progressive, irreversible, and incurable condition characterized by high morbidity and mortality, affecting approximately one-tenth of the global population. Rise of urea-derived ...

• Charting the shared genetic architecture of Alzheimer's disease, cognition, and educational attainment, and associations with brain development 

  Jaholkowski, Piotr Pawel; Bahrami, Shahram; Fominykh, Vera; Hindley, Guy; Tesfaye, Markos; Parekh, Pravesh; Parker, Nadine; Filiz, Tahir Tekin; Nordengen, Kaja; Hagen, Espen; Koch, Elise; Bakken, Nora Refsum; Frei, Evgeniia; Birkenæs, Viktoria; Rahman, Mohammad Zillur; Frei, Oleksandr; Haavik, Jan; Djurovic, Srdjan; Dale, Anders; Smeland, Olav Bjerkehagen; OConnell, Kevin Sean; Shadrin, Alexey; Andreassen, Ole A. (Journal article; Peer reviewed, 2024)

  The observation that the risk of developing Alzheimer's disease is reduced in individuals with high premorbid cognitive functioning, higher educational attainment, and occupational status has led to the ‘cognitive reserve’ ...

• Meldonium-induced steatosis is associated with increased delta 6 desaturation and reduced elongation of n-6 polyunsaturated fatty acids 

  Bjørndal, Bodil; Tungland, siri Lunde; Bohov, Pavol; Sydnes, Magne Olav; Dankel, Simon N; Madsen, Lise; Berge, Rolf Kristian (Journal article; Peer reviewed, 2024)

  Background and objective Metabolic associated fatty liver disease (MAFLD) is associated with abnormal lipid metabolism. Mitochondrial dysfunction is considered an important factor in the onset of MAFLD, whereas altered ...

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