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Page 1
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.
Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH. Chen YH, et al. Among authors: elfving m. J Exp Med. 2020 Mar 2;217(3):e20191306. doi: 10.1084/jem.20191306. J Exp Med. 2020. PMID: 31914175 Free PMC article.
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.
Eriksson D, Røyrvik EC, Aranda-Guillén M, Berger AH, Landegren N, Artaza H, Hallgren Å, Grytaas MA, Ström S, Bratland E, Botusan IR, Oftedal BE, Breivik L, Vaudel M, Helgeland Ø, Falorni A, Jørgensen AP, Hulting AL, Svartberg J, Ekwall O, Fougner KJ, Wahlberg J, Nedrebø BG, Dahlqvist P; Norwegian Addison Registry Study Group; Swedish Addison Registry Study Group; Knappskog PM, Wolff ASB, Bensing S, Johansson S, Kämpe O, Husebye ES. Eriksson D, et al. Nat Commun. 2021 Feb 11;12(1):959. doi: 10.1038/s41467-021-21015-8. Nat Commun. 2021. PMID: 33574239 Free PMC article.
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.
Eriksson D, Dalin F, Eriksson GN, Landegren N, Bianchi M, Hallgren Å, Dahlqvist P, Wahlberg J, Ekwall O, Winqvist O, Catrina SB, Rönnelid J; Swedish Addison Registry Study Group; Hulting AL, Lindblad-Toh K, Alimohammadi M, Husebye ES, Knappskog PM, Rosengren Pielberg G, Bensing S, Kämpe O. Eriksson D, et al. J Clin Endocrinol Metab. 2018 Jan 1;103(1):179-186. doi: 10.1210/jc.2017-01957. J Clin Endocrinol Metab. 2018. PMID: 29069385
35 results