Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature - Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; et al. (Nature genetics, 2012)
Keywords: 631/208/2489/144; 631/208/737; 631/250/249/1313; Adenosine deaminase; Adenosine Deaminase - genetics; Agriculture; Aicardi syndrome; Alu Elements - genetics; Animal Genetics and Genomics; Animals; Autoimmune Diseases of the Nervous System - genetics; Biological and medical sciences; Biomedicine; Cancer Research; Exome; Fundamental and applied biological sciences. Psychology; Gene Expression; Gene Function; Gene mutations; Genetic aspects; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Health aspects; Human Genetics; Humans; Interferon; Interferon Type I - genetics; Interferon Type I - metabolism; letter; Malformations of the nervous system; Medical research; Medical sciences; Mice; Mutation; Nervous System Malformations - genetics; Neurology; Physiological aspects; Protein Conformation; Proteins; Risk factors; RNA; RNA, Double-Stranded - genetics; RNA, Double-Stranded - metabolism; RNA-Binding Proteins; Sequence Analysis, DNA; Signal Transduction; Structure-Activity Relationship; United States; Italy; United Kingdom; Eye disease; Nervous system diseases; Malformation; Aicardi syndrome; Central nervous system disease; Mutation; Congenital disease; Cerebral disorder