Associated Papers
Infantile-onset generalized dystonia with pigmentary mosaicism in ADAR gene mutation: A novel neurocutaneous phenotype.
Padmanabha H et al.
Parkinsonism & Related Disorders, 2023
The RNA-editing enzyme ADAR1: a regulatory hub that tunes multiple dsRNA-sensing pathways.
Nakahama T et al.
International Immunology, 2023
The role of RNA editing enzyme ADAR1 in human disease.
Song B et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Deciphering the Biological Significance of ADAR1-Z-RNA Interactions.
Nakahama T et al.
International Journal of Molecular Sciences, 2021
ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.
de Reuver R et al.
Cell Reports, 2021
Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation.
Cattalini M et al.
Frontiers in Pediatrics, 2021
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI et al.
Neuropediatrics, 2017
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
La Piana R et al.
American Journal of Medical Genetics. Part A, 2014
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI et al.
Nature Genetics, 2012
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