Blar i forfatter Det helsevitenskapelige fakultet "Nilssen, Øivind"

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    • Alpha-mannosidosis 

      Malm, Dag; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2008-07-23)
      Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in the ...

    • Alpha-mannosidosis: Correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Inherited metabolic diseases 

      Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Lund, Allan Meldgaard (Journal article; Tidsskriftartikkel; Peer reviewed, 2015-06-06)
      Background: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal abnormalities. <p>Methods: To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted ...

    • Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome 

      Moldenæs, Marika F.; Rendtorff, Nanna D.; Hindbæk, Lone S.; Tørring, Pernille M.; Nilssen, Øivind; Tranebjærg, Lisbeth (Journal article; Tidsskriftartikkel; Peer reviewed; Master thesis; Mastergradsoppgave, 2021-06-22)
      The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of the six causal genes for Waardenburg syndrome, which is a dominantly inherited auditory-pigmentary disorder characterized by sensorineural hearing impairment ...

    • Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. 

      Østern, Rune André Helland; Fagerheim, Toril; Hjellnes, Helene; Nygård, Bjørn; Mellgren, Svein Ivar; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2013)
      The importance of diagnosing and treating co-occurring psychiatric disorders among substance abusers in treatment has received much attention. The aim of this study was to investigate to which extent co-occurring psychiatric disorders are diagnosed in a clinical population of substance abusers, and which factors (including the use of MINI-Plus) that influence the diagnosing of co-occurring psychiatric ...

    • Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020) 

      Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-11-25)
      We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, the highest reported figure worldwide. Of the 153 subjects, 134 (88 %) were homozygous for FKRP c.826C>A giving a carrier frequency for this variant of 1/101 in Norway. Clinical ...

    • Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction 

      Alhamidi, Maisoon; Kjeldsen, Elisabeth; Fagerheim, Toril; Brox, Vigdis; Lindal, Sigurd; Van Ghelue, Marijke; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2011)
      Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3). Mutations in FKRP are also associated with Congenital Muscular Dystrophy (MDC1C), Walker-Warburg Syndrome (WWS) and Muscle Eye Brain disease (MEB). These four disorders share in common an incomplete/aberrant ...

    • In vitro host range, multiplication and virion forms of recombinant viruses obtained from co-infection in vitro with a vaccinia-vectored influenza vaccine and a naturally occurring cowpox virus isolate 

      Tryland, Morten; Okeke, Malachy Ifeanyi; Nilssen, Øivind; Moens, Ugo; Traavik, Terje (Journal article; Tidsskriftartikkel; Peer reviewed, 2009-05-12)
      Background: Poxvirus-vectored vaccines against infectious diseases and cancer are currently under development. We hypothesized that the extensive use of poxvirus-vectored vaccine in future might result in co-infection and recombination between the vaccine virus and naturally occurring poxviruses, resulting in hybrid viruses with unpredictable characteristics. Previously, we confirmed that ...

    • Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene 

      Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-19)
      We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They ...

    • Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation 

      Alhamidi, Maisoon; Brox, Vigdis; Stensland, Eva; Liset, Merete; Lindal, Sigurd; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2017-07)
      <p>Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder ...

    • Molecular characterization and phylogenetics of Fennoscandian cowpox virus isolates based on the p4c and atip genes 

      Okeke, Malachy Ifeanyi; Okoli, Arinze Stanley; Nilssen, Øivind; Moens, Ugo; Tryland, Morten; Bøhn, Thomas; Traavik, Terje (Journal article; Tidsskriftartikkel; Peer reviewed, 2014)
      Background: Cowpox virus (CPXV), a rodent-borne Orthopoxvirus (OPV) that is indigenous to Eurasia can infect humans, cattle, felidae and other animals. Molecular characterization of CPXVs isolated from different geographic locations is important for the understanding of their biology, geographic distribution, classification and evolution. Our aim was to characterize CPXVs isolated from Fennoscandia ...

    • Protein homeostasis in LGMDR9 (LGMD2I) – The role of ubiquitin‐proteasome and autophagy‐lysosomal system 

      Franeková, Veronika; Storjord, Hilde, I.; Leivseth, Gunnar; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2020-12-18)
      Aims: Limb-girdle muscular dystrophy R9 (LGMDR9) is an autosomal recessive disorder caused by mutations in the fukutin-related protein gene (FKRP), encoding a glycosyltransferase involved in α-dystroglycan modification. Muscle atrophy, a significant feature of LGMDR9, occurs by a change in the normal balance between protein synthesis and protein degradation. The ubiquitin–proteasome system (UPS) ...

    • Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations 

      Østern, Rune André Helland; Fagerheim, Toril; Hjellnes, Helene; Nygård, Bjørn; Mellgren, Svein Ivar; Nilssen, Øivind (Journal article; Tidsskriftartikkel; Peer reviewed, 2014)

    • Usher syndrome in Denmark: mutation Spectrum and some clinical observations 

      Dad, Sheena; Dahl Rendtorff, Nanna; Tranebjærg, Lisbeth; Grønskov, Karen; Gasdal Karstensen, Helena; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Francoise; Rosenberg, Thomas; Jensen, Hanne; Birk Møller, Lisbeth (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-05-12)
      Background:<br> Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.<br> Methods:<br> Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.<br> Results:<br> Before Next Generation Sequencing (NGS) became available ...