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    • Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 

      Yarham, John W.; Lamichhane, Tek N.; Pyle, Angela; Mattijssen, Sandy; Baruffini, Enrico; Bruni, Francesco; Donnini, Claudia; Vassilev, Alex; He, Langping; Blakely, Emma L.; Griffin, Helen; Santibanez-Koref, Mauro; Bindoff, Laurence; Ferrero, Iliana; Chinnery, Patrick F.; McFarland, Robert; Maraia, Richard J.; Taylor, Robert W. (Peer reviewed; Journal article, 2014-06-05)
      Identifying the genetic basis for mitochondrial diseases is technically challenging given the size of the mitochondrial proteome and the heterogeneity of disease presentations. Using next-generation exome sequencing, we ...

    • Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease 

      Dölle, Christian; Flønes, Irene Hana; Sanchez Nido, Gonzalo; Miletic, Hrvoje; Osuagwu, Nelson; Kristoffersen, Stine; Lilleng, Peer Kåre; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos (Peer reviewed; Journal article, 2016-11-22)
      Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and neurodegenerative disorders such as Parkinson disease (PD). Here, we ...

    • Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid–sensitive hypoglycemia 

      St-Louis, Johanna L.; el Jellas, Khadija; Velasco, Kelly; Slipp, Brittany A.; Hu, Jiang; Helgeland, Geir; Steine, Solrun; De Jesus, Dario F.; Kulkarni, Rohit N.; Molven, Anders (Journal article; Peer reviewed, 2023)
      Congenital hyperinsulinism of infancy (CHI) can be caused by a deficiency of the ubiquitously expressed enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD). To test the hypothesis that SCHAD-CHI arises from a specific ...

    • Deficient phosphorylation of stat-1 in leukocytes identifies neutralizing antibodies in multiple sclerosis patients treated with interferon-beta 

      Gavasso, Sonia; Mosleth, Ellen Færgestad; Marøy, Tove Helene; Jørgensen, Katarina Mariann; Nakkestad, Hanne Linda; Gjertsen, Bjørn Tore; Myhr, Kjell-Morten; Vedeler, Christian A. (Peer reviewed; Journal article, 2014-02-19)
      Background: Anti interferon-beta (IFN-β) neutralizing antibodies (NAb) affect efficacy of treatment of multiple sclerosis patients, but exactly when the detrimental effects of NAbs offset therapeutic efficacy is debated. ...

    • Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality 

      Oddsson, Asmundur; Sulem, Patrick; Sveinbjornsson, Gardar; Arnadottir, Gudny A.; Steinthorsdottir, Valgerdur; Halldorsson, Gisli H.; Atlason, Bjarni A.; Oskarsson, Gudjon R.; Helgason, Hannes; Nielsen, Henriette Svarre; Westergaard, David; Karjalainen, Juha; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jensson, Brynjar O.; Tragante, Vinicius; Ferkingstad, Egil; Jónsson, Hákon; Gudjonsson, Sigurjon A.; Beyter, Doruk; Moore, Kristjan H.S.; Thordardottir, Helga B.; Kristmundsdottir, Snædis; Stefansson, Olafur A.; Rantapää Dahlqvist, Solbritt; Sonderby, Ida Elken; Didriksen, Maria; Stridh, Pernilla; Haavik, Jan; Tryggvadottir, Laufey; Frei, Oleksandr; Walters, G. Bragi; Kockum, Ingrid; Hjalgrim, Henrik; Olafsdottir, Thorunn A; Selbæk, Geir; Nyegaard, Mette; Erikstrup, Christian; Brodersen, Thorsten; Sævarsdottir, Sædis; Olsson, Tomas; Nielsen, Kaspar Rene; Haraldsson, Àsgeir; Bruun, Mie Topholm; Hansen, Thomas Folkmann; Steingrimsdottir, Thora; Jacobsen, Rikke Louise; Lie, Rolv T.; Djurovic, Srdjan; Alfredsson, Lars; Portilla, A.L.; Brunak, Søren; Havdahl, Alexandra; Andreassen, Ole (Journal article; Peer reviewed, 2023)
      Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with ...

    • Defining the Ethiopian Essential Health Service Package : Process, methods and cost-effectiveness evidence for the prioritisation of health interventions 

      Eregata, Getachew Teshome (Doctoral thesis, 2021-06-15)
      Background: All countries have signed up to the United Nations (UN) Sustainable Development Goals (SDGs), including Target 3.8 on achieving universal health coverage (UHC). UHC is realised when everyone has access to quality ...

    • Defining Transabdominal Intestinal Ultrasound Treatment Response and Remission in Inflammatory Bowel Disease: Systematic Review and Expert Consensus Statement 

      Ilvermarl, Johan FKF; Hansen, Tawnya; Goodsall, Thomas M.; Seidelin, Jakob B.; Al-Farhan, Heba; Allocca, Mariangela; Begun, Jakob; Bryant, Robert V.; Carter, Dan; Christensen, Britt; Dubinsky, Marla C.; Gecse, Krisztina B.; Kucharzik, Torsten; Lu, Cathy; Maaser, Christian; Maconi, Giovanni; Nylund, Kim; Palmela, Carolina; Wilson, Stephanie; Wilkens, Rune (Journal article; Peer reviewed, 2021)
      Background and Aims No consensus exists on defining intestinal ultrasound response, transmural healing, or transmural remission in inflammatory bowel disease, nor clear guidance for optimal timing of assessment during ...

    • Defining when specialised mental health care is needed: A focus group study 

      Nymoen, Marit; Biringer, Eva Aaker; Helgeland, Jostein; Hellesen, Harald Bjarne; Sande, Liv Alsaker; Hartveit, Miriam (Journal article; Peer reviewed, 2020)
      Background: Shared understanding between GPs and hospital specialists concerning when patients need specialised mental health care is important to ensure patients receive appropriate care. The large amount of rejected ...

    • The definition of immigrant status matters: impact of nationality, country of origin, and length of stay in host country on mortality estimates 

      Gimeno-Feliu, Luis Andrés; Calderón-Larrañaga, Amaia; Diaz, Esperanza; Laguna-Berna, Clara; Poblador-Plou, Beatriz; Coscollar-Santaliestra, Carlos; Prados-Torres, Alexandra (Peer reviewed; Journal article, 2019-02-28)
      Background: Mortality is a robust indicator of health and offers valuable insight into the health of immigrants. However, mortality estimates can vary significantly depending on the manner in which immigrant status is ...

    • Definition of novel cell envelope associated proteins in Triton X-114 extracts of Mycobacterium tuberculosis H37Rv 

      Målen, Hiwa; Pathak, Sharad; Søfteland, Tina; De Souza, Gustavo A.; Wiker, Harald G. (Peer reviewed; Journal article, 2010-04-29)
      Background Membrane- and membrane-associated proteins are important for the pathogenicity of bacteria. We have analysed the content of these proteins in virulent Mycobacterium tuberculosis H37Rv using Triton X-114 ...

    • Deformation and initial stability in hip arthroplasty. Effect of neck geometry and fixation – an experimental cadaver study 

      Enoksen, Cathrine Harstad (Doctoral thesis, 2017-06-08)
      Introduction: The search for and development of the optimal joint implant include preclinical testing. Restoration of the individual and natural biomechanics in the hip joint is a central goal in hip arthroplasty, and can ...

    • Degenerative bony changes in the temporal component of the temporomandibular joint – review of the literature 

      Vîrlan, Maria Justina Roxana; Costea, Daniela Elena; Păun, Diana Loreta; Zamfir-Chiru-anton, Adina; Sterian, Alin Gabriel; Spînu, Arsenie Dan; Nimigean, Victor; Nimigean, Vanda Roxana (Journal article; Peer reviewed, 2022)
      Temporomandibular joint (TMJ) changes are quite frequent in adults, but not all changes are degenerative. A high prevalence of bone alterations in the TMJs was reported by different research groups. Disturbed remodeling ...

    • Degradation of Extracellular NAD+ Intermediates in Cultures of Human HEK293 Cells 

      Kulikova, Veronika; Shabalin, Konstantin; Nerinovski, Kirill; Yakimov, Alexander; Svetlova, Maria; Solovjeva, Ljudmila; Kropotov, Andrey; Khodorkovskiy, Mikhail; Migaud, Marie E.; Ziegler, Mathias; Nikiforov, Andrey (Peer reviewed; Journal article, 2019-11-29)
      Nicotinamide adenine dinucleotide (NAD) is an essential redox carrier, whereas its degradation is a key element of important signaling pathways. Human cells replenish their NAD contents through NAD biosynthesis from ...

    • Delay in the Diagnosis of Tuberculosis in Banke district, Nepal 

      Basnet, Rajendra (Master thesis, 2008-05-27)
      Background: Tuberculosis is one of the major causes of ill health in the world and almost 33% of the global new case was found in South East Asian Region. In 2006, tuberculosis incidence was reported 30,000 and 14,000 of ...

    • Delay in the diagnosis of tuberculosis in Nepal 

      Basnet, Rajendra; Hinderaker, Sven Gudmund; Enarson, Donald Arthus; Malla, Pushpa; Mørkve, Odd (Peer reviewed; Journal article, 2009-07-14)
      Background: Identifying reasons for delay in diagnosis and treatment of tuberculosis is important for the health system to find ways to treat patients as early as possible, and hence reduce the suffering of patients and ...

    • Delay in Tuberculosis case detection in Pwani region, Tanzania. a cross sectional study 

      Ngadaya, Esther S.; Mfinanga, Sayoki Godfrey; Wandwalo, Eliud R.; Mørkve, Odd (Peer reviewed; Journal article, 2009-10-29)
      Background: Delay in Tuberculosis (TB) case detection may worsen the disease and increase TB transmission. It is also a challenge to the National TB and Leprosy control Program (NTLP). Methods: We conducted a cross sectional ...

    • Delayed Sleep Phase Disorder in Adolescence and Young Adulthood. Patients` experiences, personality and treatment effects on daytime function 

      Wilhelmsen-Langeland, Ane (Doctoral thesis, 2013-11-26)
      Delayed sleep phase disorder (DSPD) is a circadian rhythm sleep disorder where the sleep period is delayed compared to conventional norms. Patients with DSPD typically report complaints of excessive daytime sleepiness and ...

    • Delayed Sleep Phase Disorder. Prevalence, sleep, circadian rhythm and treatment 

      Saxvig, Ingvild West (Doctoral thesis, 2013-04-30)
      Adolescence is often characterized by delayed and irregular sleep patterns, with potential negative consequences in terms of school performance and daytime functioning. At the most extreme, a stably delayed sleep phase may ...

    • Delegated discretion: A call for reasonableness in surrogate decision-making and clinical judgment 

      Bærøe, Kristine (Doctoral thesis, 2009-01-30)
      In a democratic welfare state, how should individual judgment be exercised and constrained when someone is making decisions on behalf of another who is not considered competent to make his or her own decisions? How should ...

    • Deletion of Notch3 Impairs Contractility of Renal Resistance Vessels Due to Deficient Ca2+ Entry 

      Helle, Frank; Hultström, Michael; Kavvadas, Panagiotis; Iversen, Bjarne Magnus; Chadjichristos, Christos E.; Chatziantoniou, Christos (Journal article; Peer reviewed, 2022)
      Notch3 plays an important role in the differentiation and development of vascular smooth muscle cells. Mice lacking Notch3 show deficient renal autoregulation. The aim of the study was to investigate the mechanisms involved ...