TY  -  
T1  - Novel TMEM173 Mutation and the Role of Disease Modifying Alleles 
SN  -  /  
UR  - http://hdl.handle.net/10138/309496 
T3  -  
A1  - Keskitalo, Salla; Haapaniemi, Emma; Einarsdottir, Elisabet; Rajamäki, Kristiina; Heikkilä, Hannele; Ilander, Mette; Pöyhönen, Minna; Morgunova, Ekaterina; Hokynar, Kati; Lagström, Sonja; Kivirikko, Sirpa; Mustjoki, Satu; Eklund, Kari; Saarela, Janna; Kere, Juha; Seppänen, Mikko R. J.; Ranki, Annamari; Hannula-Jouppi, Katariina; Varjosalo, Markku 
A2  -  
PB  -  
Y1  - 2019 
LA  - eng 
AB  - Upon binding to pathogen or self-derived cytosolic nucleic acids cyclic GMP-AMP synthase (cGAS) triggers the production of cGAMP that further activates transmembrane protein STING. Upon activation STING translocates from ER via Golgi to vesicles. Monogenic STING gain-of-function mutations cause early-onset type I interferonopathy, with disease presentation ranging from fatal vasculopathy to mild chilblain lupus. Molecular mechanisms underlying the variable phenotype-genotype correlation are pres... 
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OP  -  
KW  - TMEM173; stimulator of interferon genes; interferon type I; IFIH1; additive effect; protein interactions; OF-FUNCTION MUTATION; AICARDI-GOUTIERES SYNDROME; TUMOR-SUPPRESSOR CYLD; INNATE IMMUNE SENSOR; CYCLIC GMP-AMP; I INTERFERON; STING ACTIVATION; GOLGI TRANSPORT; DI-GMP; 3121 General medicine, internal medicine and other clinical medicine 
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ER  -