Browsing Department of Clinical Science by Author "Falorni, Alberto"
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Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European Cohorts
Mitchell, Anna L.; Macarthur, Katie D.R.; Gan, Earn H.; Baggott, Lucy E.; Wolff, Anette Susanne Bøe; Skinningsrud, Beate; Platt, Hazel; Short, Andrea; Lobell, Anna; Kämpe, Olle; Bensing, Sophie; Betterle, Corrado; Kasperlik-Zaluska, Anna; Zurawek, Magdalena; Fichna, Marta; Kockum, Ingrid; Eriksson, Gabriel Nordling; Ekwall, Olov; Wahlberg, Jeanette; Dahlqvist, Per; Hulting, Anna-Lena; Penna-Martinez, Marissa; Meyer, Gesine; Kahles, Heinrich; Badenhoop, Klaus; Hahner, Stefanie; Quinkler, Marcus; Falorni, Alberto; Phipps-Green, Amanda; Merriman, Tony R.; Ollier, William; Cordell, Heather J.; Undlien, Dag Erik; Czarnocka, Barbara; Husebye, Eystein Sverre; Pearce, Simon H.S. (Peer reviewed; Journal article, 2014-03-10)Background: Gene variants known to contribute to Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component ... -
CTLA-4 as a genetic determinant in autoimmune Addison's disease
Wolff, Anette Susanne Bøe; Mitchell, Anna L.; Cordell, Heather J.; Short, Andrea; Skinningsrud, Beate; Ollier, William; Badenhoop, Klaus; Meyer, Gesine; Falorni, Alberto; Kämpe, Olle; Undlien, Dag Erik; Pearce, Simon H.S.; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2015)In common with several other autoimmune diseases, autoimmune Addison’s disease (AAD) is thought to be caused by a combination of deleterious susceptibility polymorphisms in several genes, together with undefined environmental ... -
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility
Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Artaza, Haydee; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Study group, Norwegian Addison Registry; Study Group, Swedish Addison Registry; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2021)Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ... -
Quality of Life in European Patients with Addison’s Disease: Validity of the Disease-Specific Questionnaire AddiQoL
Øksnes, Marianne; Bensing, Sophie; Hulting, Anna-Lena; Kämpe, Olle; Hackemann, Annika; Meyer, Gesine; Badenhoop, Klaus; Betterle, Corrado; Parolo, Anna; Giordano, Roberta; Falorni, Alberto; Papierska, Lucyna; Jeske, Wojciech; Kasperlik-Zaluska, Anna A.; Chatterjee, V. Krishna K.; Husebye, Eystein Sverre; Løvås, Kristian (Peer reviewed; Journal article, 2012-02)Context: Patients with Addison’s disease (AD) self-report impairment in specific dimensions on well-being questionnaires. An AD-specific quality-of-life questionnaire (AddiQoL) was developed to aid evaluation of patients. ...