Blar i Faculty of Medicine på forfatter "Bredrup, Cecilie"

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    • Corneal Vascularization Associated With a Novel PDGFRB Variant 

      Gladkauskas, Titas; Bruland, Ove; Safieh, Leen Abu; Edward, Deepak P.; Rødahl, Eyvind; Bredrup, Cecilie (Journal article; Peer reviewed, 2023)
      Purpose: The purpose of this study was to identify the genetic cause of aggressive corneal vascularization in otherwise healthy children in one family. Further, to study molecular consequences associated with the identified ...

    • Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID) 

      Mehrasa, Roya; Cristea, Ileana; Bredrup, Cecilie; Rødahl, Eyvind; Bruland, Ove (Journal article; Peer reviewed, 2023)
      All-trans retinoic acid-induced differentiation (ATRAID) factor was first identified in HL60 cells. Several mRNA isoforms exist, but the respective proteins have not been fully characterized. In transfected cells expressing ...

    • K+ regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages 

      Cristea, Ileana; Bruland, Ove; Rødahl, Eyvind; Bredrup, Cecilie (Journal article; Peer reviewed, 2021)
      Pellino proteins are E3 ubiquitin ligases involved in the innate immune system. Recently, Pellino-2 was reported to modulate the activation of the mouse Nlrp3 inflammasome. We examined the intracellular localization of ...

    • MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing 

      Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche; Boman, Helge; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2013-01-03)
      Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ...

    • Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization 

      Cristea, Ileana; Bruland, Ove; Rødahl, Eyvind; Bredrup, Cecilie (Journal article; Peer reviewed, 2021)
      Pellino-2 is an E3 ubiquitin ligase that mediates intracellular signaling in innate immune pathways. Most studies of endogenous Pellino-2 have been performed in macrophages, but none in nonimmune cells. Using yeast two-hybrid ...

    • A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia 

      Cristea, Ileana; Abarca, Hugo; Christensen, Anne Elisabeth; Trubnykova, Milana; Mehrasa, Roya; Peters, Dorien J. M.; Houge, Gunnar Douzgos; Hennekam, Raoul C. M.; Rødahl, Eyvind; Bruland, Ove; Bredrup, Cecilie (Journal article; Peer reviewed, 2023)
      Ocular pterygium–digital keloid dysplasia (OPDKD) is a rare hereditary disease characterized by corneal ingrowth of vascularized conjunctival tissue early in life. Later, patients develop keloids on fingers and toes but ...

    • Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 

      Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu; Di Maria, Emilio; Gjertsen, Bjørn Tore; Tveit, Kåre Steinar; Thu, Frode; Bull, Nils; Edward, Deepak P.; Hennekam, Raoul C.; Høvding, Gunnar Jr; Haugen, Olav H.; Houge, Gunnar Douzgos; Rødahl, Eyvind; Bruland, Ove (Journal article; Peer reviewed, 2021)
      Ocular pterygium-digital keloid dysplasia (OPDKD) presents in childhood with ingrowth of vascularized connective tissue on the cornea leading to severely reduced vision. Later the patients develop keloids on digits but are ...