Browsing Department of Clinical Science by Title

Now showing items 843-862 of 2340

    • Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia 

      Brønstad, Ingeborg; Breivik, Lars Ertesvåg; Methlie, Paal; Wolff, Anette Susanne Bøe; Bratland, Eirik; Nermoen, Ingrid; Løvås, Kristian; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2014)
      In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population ...

    • Functional toll-like receptors (TLRs) are expressed by a majority of primary human acute myeloid leukemia cells and inducibility of the TLR signaling pathway is associatedwith a more favorable phenotype 

      Bruserud, Øystein; Brenner, Annette (Peer reviewed; Journal article, 2019-07-11)
      Acute myeloid leukemia (AML) is a highlyheterogeneous disease withregardto biological characteristics and receptor expression. Toll-like receptors (TLRs) are upstream to the transcription factor NFκB and part of the innate ...

    • Fysisk aktivitet og astma blant barn og ungdommer i Bergen – RHINESSA-studien 

      Færø, Bertine-Helene (Master thesis, 2020-06-19)
      En stor andel av barn og unge i Norge har den kroniske lungesykdommen astma og behandles med astmamedikamenter for dette. Samtidig viser rapporten «Kartlegging av fysisk aktivitet, sedat tid og fysisk form blant barn og ...

    • Fytokjemisk undersøkelse av Spansk kjørvel Myrrhis odorata (L.) Scop 

      Hindi, Tasbih Ghassan Mohammed (Master thesis, 2022-05-20)

    • Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma 

      Håvik, Aril Løge; Bruland, Ove; Dhayalan, Dhanushan; Lund-Johansen, Morten; Knappskog, Per (Journal article; Peer reviewed, 2020)
      Introduction: Ionizing radiation is a known etiologic factor in tumorigenesis and its role in inducing malignancy in the treatment of vestibular schwannoma has been debated. The purpose of this study was to identify a copy ...

    • Gastrointestinal colonization of extended-spectrum beta-lactamase-producing bacteria among children below five years of age hospitalized with fever in Dar es Salaam, Tanzania 

      Kibwana, Upendo O.; Manyahi, Joel; Sandnes, Helene Heitmann; Blomberg, Bjørn; Mshana, Stephen E.; Langeland, Nina; Moyo, Sabrina John (Journal article; Peer reviewed, 2022)
      Objectives: Gastrointestinal colonization of extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL-PE) is of concern because prior colonization increases risk for subsequent infections. To date, the link between ...

    • Gel2DE - A software tool for correlation analysis of 2D gel electrophoresis data 

      Øye, Ola Kristoffer; Jørgensen, Katarina Mariann; Hjelle, Sigrun Margrethe; Sulen, André; Ulvang, Dag Magne; Gjertsen, Bjørn Tore (Peer reviewed; Journal article, 2013-07-06)
      Background: Two-dimensional gel electrophoresis (2DE) is a powerful technique for studying protein isoforms and their modifications. Existing commercial 2D image analysis tools rely on spot detection that limits analysis ...

    • Gender differences in childhood lyme neuroborreliosis 

      Tveitnes, Dag; Øymar, Knut (Peer reviewed; Journal article, 2015-10-04)
      Background. Many neurological diseases show differences between genders. We studied gender differences in childhood Lyme neuroborreliosis (LNB) in an endemic area of Lyme borreliosis in Norway. Methods. In a population ...

    • Gender-related differences in cardiometabolic risk factors and lifestyle behaviors in treatment-seeking adolescents with severe obesity 

      Barstad, Lisa Ha; Juliusson, Petur Benedikt; Johnson, Line Kristin; Hertel, Jens Kristoffer; Lekhal, Samira; Hjelmesæth, Jøran (Peer reviewed; Journal article, 2018-02-14)
      Background: Obesity during adolescence is associated with cardiovascular mortality in adulthood. The adverse obesity-related cardiometabolic risk profile is already observed in adolescence. We aimed to examine possible ...

    • Gene expression response in peripheral blood cells of petroleum workers exposed to sub-ppm benzene levels 

      Jørgensen, Katarina Mariann; Mosleth, Ellen Færgestad; Liland, Kristian Hovde; Hopf, Nancy Brenna; Holdhus, Rita; Stavrum, Anne-Kristin; Gjertsen, Bjørn Tore; Kirkeleit, Jorunn (Peer reviewed; Journal article, 2018-10-27)
      Altered gene expression in pathways relevant to leukaemogenesis, as well as reduced levels of circulating lymphocytes, have been reported in workers that were exposed to benzene concentrations below 1 ppm. In this study, ...

    • Gene Methylation and Silencing of WIF1 Is a Frequent Genetic Abnormality in Mantle Cell Lymphoma 

      Alshareef, Abdulraheem; Gelebart, Pascal; Peters, Anthea C.; Chen, Will; Lai, Raymond (Journal article; Peer reviewed, 2021)
      We have previously shown that the Wnt canonical pathway (WCP) is constitutively active in most cases of mantle cell lymphoma (MCL). Here, we aimed to elucidate the mechanisms underlying this biochemical deregulation. We ...

    • A gene signature identifying CIN3 regression and cervical cancer survival 

      Halle, Mari Kyllesø; Munk, Ane Cecilie Dæhli; Engesæter, Birgit Øvstebø; Akbari, Saleha; Frafjord, Astri; Høivik, Erling Andre; Forsse, David Erik; Fasmer, Kristine Eldevik; Woie, Kathrine; Haldorsen, Ingfrid S.; Bertelsen, Bjørn; Janssen, Emiel; Gudlaugsson, Einar; Krakstad, Camilla; Øvestad, Irene Tveiterås (Journal article; Peer reviewed, 2021-11-16)
      The purpose of this study was to establish a gene signature that may predict CIN3 regression and that may aid in selecting patients who may safely refrain from conization. Oncomine mRNA data including 398 immune-related ...

    • Generating a Precision Endoxifen Prediction Algorithm to Advance Personalized Tamoxifen Treatment in Patients with Breast Cancer 

      Helland, Thomas; Alsomairy, Sarah; Lin, Chenchia; Søiland, Håvard; Mellgren, Gunnar; Hertz, Daniel Louis (Journal article; Peer reviewed, 2021)
      Tamoxifen is an endocrine treatment for hormone receptor positive breast cancer. The effectiveness of tamoxifen may be compromised in patients with metabolic resistance, who have insufficient metabolic generation of the ...

    • Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma 

      Håvik, Aril Løge; Bruland, Ove; Miletic, Hrvoje; Poulsgaard, Lars; Scheie, David; Fugleholm, Kåre; Lund-Johansen, Morten; Knappskog, Per Morten (Journal article; Peer reviewed, 2022)
      Introduction: Malignant peripheral nerve sheath tumor of the vestibulocochlear nerve (VN-MPNST) is exceedingly rare and carries a poor prognosis. Little is known about its underlying genetics and in particular the process ...

    • Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome 

      Thorlacius, Gudny Ella; Hultin-Rosenberg, Lina; Sandling, Johanna K.; Bianchi, Matteo; Imgenberg-Kreuz, Juliana; Theander, Elke; Kvarnström, Marika; Forsblad-d’Elia, Helena; Bucher, Sara Magnusson; Norheim, Katrine Brække; Johnsen, Svein Joar Auglænd; Hammenfors, Sten Daniel; Skarstein, Kathrine; Jonsson, Malin V; Bäcklund, Eva; consortium, the DISSECT; meadows, jennifer r; Rantapää-Dahlqvist, Solbritt; Mandl, Thomas; Eriksson, Per; Omdal, Roald; Jonsson, Sten Ture Roland; Lindblad-Toh, Kerstin; Rönnblom, Lars; Wahren-Herlenius, Marie; Nordmark, Gunnel (Journal article; Peer reviewed, 2020)
      Objectives Clinical presentation of primary Sjögren’s syndrome (pSS) varies considerably. A shortage of evidence-based objective markers hinders efficient drug development and most clinical trials have failed to reach ...

    • The genetic architecture of human brainstem structures and their involvement in common brain disorders 

      Elvsåshagen, Torbjørn; Bahrami, Shahram; van der Meer, Dennis; Agartz, Ingrid; Alnæs, Dag; Barch, Deanna M.; Baur-Streubel, Ramona; Bertolino, Alessandro; Beyer, Mona K.; Blasi, Giuseppe; Borgwardt, Stefan; Boye, Birgitte; Buitelaar, Jan; Bøen, Erlend; Celius, Elisabeth Gulowsen; Cervenka, Simon; Conzelmann, Annette; Coynel, David; di Carlo, Pasquale; Djurovic, Srdjan; Eisenacher, Sarah; Espeseth, Thomas; Fatouros-Bergman, Helena; Flyckt, Lena; Franke, Barbara; Frei, Oleksandr; Gelao, Barbara; Harbo, Hanne Flinstad; Hartman, Catharina A.; Håberg, Asta; Heslenfeld, Dirk; Hoekstra, Pieter J.; Høgestøl, Einar August; Jonassen, Rune; Jönsson, Erik G.; Kirsch, Peter; Kloszewska, Iwona; Lagerberg, Trine Vik; Landrø, Nils Inge; Le Hellard, Stephanie; Lesch, Klaus-Peter; Maglanoc, Luigi Angelo; Malt, Ulrik Fredrik; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Moberget, Torgeir; Nordvik, Jan Egil; Nyberg, Lars; O’ Connell, Kevin S.; Oosterlaan, Jaap; Papalino, Marco; Papassotiropoulos, Andreas; Pauli, Paul; Pergola, Giulio; Persson, Karin; de Quervain, Dominique; Reif, Andreas; Rokicki, Jaroslav; Van Rooij, Daan; Shadrin, Alexey A.; Schmidt, André; Schwarz, Emanuel; Selbæk, Geir; Soininen, Hilkka; Sowa, Piotr; Steen, Vidar M.; Tsolaki, Magda; Vellas, Bruno; Wang, Lei; Westman, Eric; Ziegler, Georg C.; Zink, Mathias; Andreassen, Ole Andreas; Westlye, Lars Tjelta; Kaufmann, Tobias (Journal article, 2020)
      Brainstem regions support vital bodily functions, yet their genetic architectures and involvement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, ...

    • 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 ...

    • The genetic architecture of the human cerebral cortex 

      Grasby, Katrina L.; Jahanshad, Neda; Painter, Jodie N; Colodro-Conde, Lucía; Bralten, Janita; Agartz, Ingrid; Alnæs, Dag; Gurholt, Tiril Pedersen; Kaufmann, Tobias; Sønderby, Ida Elken; van der Meer, Dennis; Westlye, Lars Tjelta; Wolfers, Thomas; Djurovic, Srdjan; Le Hellard, Stephanie; Andreassen, Ole Andreas; Jönsson, Erik Gunnar; Steen, Vidar Martin; Medland, Sarah E. (Journal article; Peer reviewed, 2020)
      INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be ...

    • Genetic biomarkers as prognostic and predictive factors in metastatic malignant melanoma 

      Busch, Christian (Doctoral thesis, 2010-10-26)
      Malignant melanoma is one of the most chemoresistant malignancies in man. Although effort is put into developing new drugs to treat metastatic melanoma, still dacarbazine, an alkylating agent approved in 1975 for therapeutic ...

    • Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) 

      Davies, Gail; Armstrong, N; Bis, JC; Bressler, J; Chouraki, V; Giddaluru, Sudheer; Hofer, E; Ibrahim-Verbaas, CA; Kirin, M; Lahti, J; Van Der Lee, SJ; Le Hellard, Stephanie; Liu, T; Marioni, RE; Oldmeadow, C; Postmus, I; Smith, AV; Smith, JA; Thalamuthu, A; Thomson, R; Vitart, V; Wang, J; Yu, L; Zgaga, L; Zhao, W; Boxall, R; Harris, SE; Hill, WD; Liewald, DC; Luciano, M; Adams, H; Ames, D; Amin, N; Amouyel, P; Assareh, AA; Au, R; Becker, JT; Beiser, A; Berr, C; Bertram, L; Boerwinkle, E; Buckley, BM; Campbell, H; Corley, J; De Jager, PL; Dufouil, C; Eriksson, JG; Espeseth, Thomas; Faul, JD; Ford, I; Scotland, Generation; Gottesman, RF; Griswold, ME; Gudnason, V; Harris, TB; Heiss, G; Hofman, A; Holliday, EG; Huffman, J; Kardia, SLR; Kochan, N; Knopman, DS; Kwok, JB; Lambert, JC; Lee, T; Li, G; Li, SC; Loitfelder, M; Lopez, OL; Lundervold, Astri; Lundqvist, A; Mather, KA; Mirza, SS; Nyberg, L; Oostra, BA; Palotie, A; Papenberg, G; Pattie, A; Petrovic, K; Polasek, O; Psaty, BM; Redmond, P; Reppermund, S; Rotter, JI; Schmidt, H; Schuur, M; Schofield, PW; Scott, RJ; Steen, Vidar Martin; Stott, DJ; Van Swieten, JC; Taylor, KD; Trollor, J; Trompet, S; Uitterlinden, AG; Weinstein, G; Widen, E; Windham, BG; Jukema, JW; Wright, AF; Wright, MJ; Yang, Q; Amieva, H; Attia, JR; Bennett, DA; Brodaty, H; De Craen, AJM; Hayward, C; Ikram, MA; Lindenberger, U; Nilsson, LG; Porteous, DJ; Räikkönen, K; Rudan, I; Sachdev, PS; Schmidt, R; Schofield, PR; Srikanth, V; Starr, JM; Turner, ST; Weir, DR; Wilson, JF; Van Duijn, C; Launer, L; Fitzpatrick, AL; Seshadri, S; Mosley, TH; Deary, IJ; Reinvang, Ivar (Peer reviewed; Journal article, 2015)
      General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health- and well-being-related trait ...