Browsing Department of Clinical Medicine by Title

Now showing items 858-877 of 2063

    • Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension 

      White, Kevin; Lu, Yu; Annis, Sofia; Hale, Andrew E.; Chau, B. Nelson; Dahlman, James E.; Hemann, Craig; Opotowsky, Alexander R.; Vargas, Sara O.; Rosas, Ivan; Perrella, Mark A.; Osorio, Juan C.; Haley, Kathleen J.; Graham, Brian B.; Kumar, Rahul; Saggar, Rajan; Saggar, Rajeev; Wallace, W. Dean; Ross, David J.; Khan, Omar F.; Bader, Andrew; Gochuico, Bernadette R.; Matar, Majed; Polach, Kevin; Johannessen, Nicolai; Prosser, Haydn M.; Anderson, Daniel G.; Langer, Robert; Zweier, Jay L.; Bindoff, Laurence; Systrom, David; Waxman, Aaron B.; Jin, Richard C.; Chan, Stephen Y. (Peer reviewed; Journal article, 2015)
      Iron–sulfur (Fe‐S) clusters are essential for mitochondrial metabolism, but their regulation in pulmonary hypertension (PH) remains enigmatic. We demonstrate that alterations of the miR‐210‐ISCU1/2 axis cause Fe‐S deficiencies ...

    • Genetic associations in myasthenia gravis. Implications for pathogenesis 

      Alseth, Espen Homleid (Doctoral thesis, 2010-11-11)

    • Genetic epidemiology of amyotrophic lateral sclerosis in Norway - a 2-year population based study 

      Olsen, Cathrine Goberg; Busk, Øyvind Løvold; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjørnar; Bjørnå, Ingrid Kristine; Braathen, Geir Julius; Breivik, Kristin Lif; Demic, Natasha; Flemmen, Heidi Øyen; Hallerstig, Erika; HogenEsch, Ineke; Holla, Øystein Lunde; Jøntvedt, Anne Berit; Kampman, Margitta T.; Kleveland, Grethe; Kvernmo, Helene Ballo; Ljøstad, Unn; Maniaol, Angelina; Morsund, Åse Hagen; Nakken, Ola; Novy, Camilla; Rekand, Tiina; Schlüter, Katrin Ruth; Schuler, Stephan; Tveten, Kristian; Tysnes, Ole-Bjørn; Holmøy, Trygve; Høyer, Helle (Journal article; Peer reviewed, 2022)
      Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40-70% of familial ALS patients and approximately ...

    • The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice 

      Fjeld, Karianne; Svanbring, Anny Gravdal; Brekke, Ranveig Seim; Alam, Jahedul; Wilhelm, Steven J.; el Jellas, Khadija; Pettersen, Helene Nazmiye; Lin, Jianguo; Solheim, Marie Holm; Steine, Solrun; Johansson, Bente Berg; Njølstad, Pål Rasmus; Verbeke, Caroline Sophie; Xiao, Xunjun; Lowe, Mark E.; Molven, Anders (Journal article; Peer reviewed, 2022)
      Background & aims: The CEL gene encodes the digestive enzyme carboxyl ester lipase. CEL-HYB1, a hybrid allele of CEL and its adjacent pseudogene CELP, is a genetic variant suggested to increase the risk of chronic pancreatitis ...

    • Genetic Risk Factors for Type 2 Diabetes and Related Traits 

      Hertel, Jens Kristoffer (Doctoral thesis, 2012-06-18)

    • Genetic risk of Parkinson disease and progression: An analysis of 13 longitudinal cohorts 

      Iwaki, Hirotaka; Blauwendraat, Cornelis; Leonard, Hampton L.; Liu, Ganqiang; Maple-Grødem, Jodi; Corvol, Jean-Christophe; Pihlstrøm, Lasse; van Nimwegen, Marlies; Hutten, Samantha J.; Nguyen, Khanh-Dung H.; Rick, Jacqueline; Eberly, Shirley; Faghri, Faraz; Auinger, Peggy; Scott, Kirsten M.; Wijeyekoon, Ruwani; van Deerlin, Vivianna M.; Hernandez, Dena G.; Day-Williams, Aaron G.; Brice, Alexis; Alves, Guido Werner; Noyce, Alastair J.; Tysnes, Ole-Bjørn; Evans, Jonathan R.; Breen, David P.; Estrada, Karol; Wegel, Claire E.; Danjou, Fabrice; Simon, David K.; Ravina, Bernard; Toft, Mathias; Heutink, Peter; Bloem, Bastiaan R.; Weintraub, Daniel; Barker, Roger A.; Williams-Gray, Caroline H.; van de Warrenburg, Bart P.; van Hilten, Jacobus J.; Scherzer, Clemens R.; Singleton, Andrew B.; Nalls, Mike A. (Peer reviewed; Journal article, 2019)
      Objective: To determine if any association between previously identified alleles that confer risk for Parkinson disease and variables measuring disease progression. Methods: We evaluated the association between 31 risk ...

    • Genetic risk scores and hallucinations in patients with Parkinson disease 

      Kusters, Cynthia D.J.; Paul, Kimberly C.; Folle, Aline Duarte; Keener, Adrienne M.; Bronstein, Jeff M.; Dobricic, Valerija; Tysnes, Ole-Bjørn; Bertram, Lars; Alves, Guido Werner; Sinsheimer, Janet S.; Lill, Christina M.; Maple-Grødem, Jodi; Ritz, Beate R. (Journal article; Peer reviewed, 2020)
      Objective We examine the hypothesized overlap of genetic architecture for Alzheimer disease (AD), schizophrenia (SZ), and Parkinson disease (PD) through the use of polygenic risk scores (PRSs) with the occurrence of ...

    • Genetics in Parkinson’s disease 

      Kurz, Martin (Doctoral thesis, 2006-12-15)

    • Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics 

      Beaumont, Robin N.; Warrington, Nicole M.; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C.; Paternoster, Lavinia; Bradfield, Jonathan P.; Kreiner-Møller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L.; Painter, Jodie N.; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J.; Espinosa, Ana; Marsh, Julie A.; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J.; Bouchard, Luigi; Das, Shikta; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M.; Jones, Samuel E.; Kogevinas, Manolis; Lind, Penelope A.; Marullo, Letizia; Medland, Sarah E.; Murray, Anna; Murray, Jeffrey C.; Njølstad, Pål Rasmus; Nohr, Ellen A.; Reichetzeder, Christoph; Ring, Susan M.; Ruth, Katherine S.; Santa-Marina, Loreto; Scholtens, Denise M.; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A.; Vaudel, Marc; Weedon, Michael N.; Willemsen, Gonneke; Wood, Andrew R.; Yaghootkar, Hanieh; Muglia, Louis J.; Bartels, Meike; Relton, Caroline L.; Pennell, Craig E.; Chatzi, Leda; Estivill, Xavier; Holloway, John W.; Boomsma, Dorret I.; Montgomery, Grant W.; Murabito, Joanne M.; Spector, Tim D.; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F.A.; Sørensen, Thorkild I.A.; Jaddoe, Vincent W.; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I.; Hattersley, Andrew T.; Hayes, M. Geoffrey; Hivert, Marie-France; Frayling, Timothy M.; Felix, Janine F.; Hyppönen, Elina; Lowe, William L.; Evans, David M.; Lawlor, Debbie A.; Feenstra, Bjarke; Freathy, Rachel M. (Peer reviewed; Journal article, 2018-02)
      Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated ...

    • Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson’s disease brain 

      Toker, Lilah; Tran, Gia T.; Sundaresan, Janani; Tysnes, Ole-Bjørn; Alves, Guido; Haugarvoll, Kristoffer; Nido, Gonzalo S.; Dölle, Christian; Tzoulis, Charalampos (Journal article; Peer reviewed, 2021)
      Background: Parkinson’s disease (PD) is a complex, age-related neurodegenerative disorder of largely unknown etiology. PD is strongly associated with mitochondrial respiratory dysfunction, which can lead to epigenetic ...

    • Genome-wide transcription analysis of histidine-related cataract in Atlantic salmon (Salmo salar L) 

      Tröße, Christiane; Waagbø, Rune; Breck, Olav; Stavrum, Anne-Kristin; Petersen, Kjell; Olsvik, Pål A. (Peer reviewed; Journal article, 2009-07-09)
      Purpose: Elevated levels of dietary histidine have previously been shown to prevent or mitigate cataract formation in farmed Atlantic salmon (Salmo salar L). The aim of this study was to shed light on the mechanisms by ...

    • Genotype dependent gene regulation in visceral adiposity: a study of the 11q23.3 locus 

      Mirza, Shanima Shanu (Master thesis, 2022-05-30)
      Abstract Background: Overweight and obesity are defined by an excessive accumulation of adipose tissue. Adipose tissue, also known as fat, consist of specialized lipid storing cells called adipocytes. In human, adipose ...

    • Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 

      Mannucci, Ilaria; Dang, Nghi D. P.; Huber, Hannes; Murry, Jaclyn B.; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J.; Berland, Siren; Bierhals, Tatjana; Bilan, Frédéric; Bindoff, Laurence A.; Braathen, Geir Julius; Busk, Øyvind; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F.; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A.; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar Douzgos; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenaël; Ljungblad, Ulf Wike; Martinez-Agosto, Julian A.; Brenman, Leslie Manace; Might, Matthew; Miller, David T.; Minks, Kelly Q.; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F.; Parant, John M.; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone B. C. Frizell; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B.; Slavotinek, Anne; Smithson, Sarah; Stegmann, Alexander P. A.; Tomczak, Kinga; Tveten, Kristian; Wang, Jun; Whitlock, Jordan H.; Zweier, Christiane; McWalter, Kirsty; Juusola, Jane; Quintero-Rivera, Fabiola; Fischer, Utz; Yeo, Nan Cher; Kreienkamp, Hans-Jürgen; Lessel, Davor (Journal article; Peer reviewed, 2021)
      Background: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods: Clinical and genetic data from affected individuals ...

    • A gentle introduction to instrumental variables 

      Widding-Havneraas, Tarjei; Zachrisson, Henrik Daae (Journal article; Peer reviewed, 2022)
      Instrumental variables (IV) is a central strategy for identifying causal effects in absence of randomized experiments. Clinicians and epidemiologists may find the intuition of IV easy to grasp by comparison to randomized ...

    • Geographical accessibility and duration of untreated psychosis: Distance as a determinant of treatment delay 

      Kvig, Erling Inge; Brinchmann, Beate; Moe, Cathrine Fredriksen; Nilssen, Steinar; Larsen, Tor Ketil; Sørgaard, Knut W. (Peer reviewed; Journal article, 2017-05-10)
      Background: The duration of untreated psychosis is determined by both patient and service related factors. Few studies have considered the geographical accessibility of services in relation to treatment delay in early ...

    • Geographical variation in ADHD: do diagnoses refect symptom levels? 

      Widding-Havneraas, Tarjei; Markussen, Simen; Elwert, Felix; Lyhmann, Ingvild; Bjelland, Ingvar; Halmøy, Anne; Chaulagain, Ashmita; Ystrøm, Eivind; Mykletun, Arnstein; Zachrisson, Henrik Daae (Journal article; Peer reviewed, 2023)
      Rates of ADHD diagnosis vary across regions in many countries. However, no prior study has investigated how much within-country geographic variation in ADHD diagnoses is explained by variation in ADHD symptom levels. We ...

    • Geographical variation in orthopedic procedures in Norway: Cross-sectional population-based study 

      Holsen, Maria; Hovind, Veronica; Bedane, Haji Kedir; Osvoll, Knut Ivar; Gjertsen, Jan-Erik; Furnes, Ove Nord; Walsh, Mary E.; Ingebrigtsen, Tor (Journal article; Peer reviewed, 2022)
      Background: Standardized surgery rates for common orthopedic procedures vary across geographical areas in Norway. We explored whether area-level factors related to demand and supply in publicly funded healthcare are ...

    • Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia 

      Dalmasso, Bruna; Pastorino, Lorenza; Nathan, Vaishnavi; Shah, Nirav N.; Palmer, Jane M.; Howlie, Madeleine; Johansson, Peter A.; Freedman, Neal D.; Carter, Brian D.; Beane-Freeman, Laura E.; Hicks, Belynda D.; Molven, Anders; Helgadottir, Hildur; Sankar, Aravind; Tsao, Hensin; Stratigos, Alexander J.; Helsing, Per; van Doorn, Remco; Gruis, Nelleke A.; Visser, Mijke; Wadt, Karin Anna Wallentin; Mann, G.; Holland, Elizabeth A.; Nagore, Eduardo; Potrony, Miriam; Puig, Susana; Menin, Chiara; Peris, Ketty; Fargnoli, Maria Concetta; Calista, Donato; Soufir, Nadem; Harland, Mark; Bishop, Timmi Unger; Kanetsky, Peter A.; Elder, David E.; Andreotti, Virginia; Vanni, Irene; Bruno, William; Höiom, Veronica; Tucker, Margaret Anne; Yang, Xiaohong R.; Andresen, Per Arne; Adams, David James; Landi, Maria Teresa; Hayward, Nicholas K.; Goldstein, Alisa M.; Ghiorzo, Paola (Journal article; Peer reviewed, 2021)
      Purpose Ataxia–Telangiectasia Mutated (ATM) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have been linked ...

    • "Getting your message through": an editorial guide for meeting publication standards 

      Ringdal, Kjetil Gorseth; Lossius, Hans Morten; Søreide, Kjetil (Peer reviewed; Journal article, 2009-12-23)

    • Giving birth with neuromuscular disease: a study of pregnancies, deliveries and the newborn in women with Myasthenia gravis and Charcot-Marie-Tooth disease 

      Hoff, Jana Midelfart (Doctoral thesis, 2006-12-12)