title: Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
abstract: Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.
authors: Department of Biology, McMaster University, Hamilton, Ontario, Canada. diamojl@mcmaster.ca.
authors: J
authors: J
authors: Diamond
mesh_terms: D000818:Animals; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics*; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D006801:Humans; D007370:Interferon Type I / Q000276:immunology*; D008297:Male; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D009421:Nervous System Malformations / Q000235:genetics*; D010641:Phenotype; D015398:Signal Transduction / Q000235:genetics*
chemical_list: D007370:Interferon Type I; D053487:DEAD-box RNA Helicases