Associated Papers
Microgliosis and aberrant interferon response in Adar Mavs brain are rescued by PKR removal.
Lacovich V et al.
Brain : a Journal of Neurology, 2026
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Dale RC et al.
Clinical & Translational Immunology, 2026
Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).
Zerad L et al.
Stem Cell Research, 2025
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
Mouse models of type I interferonopathies.
Luca D et al.
Human Molecular Genetics, 2025
A loss-of-function human ADAR variant activates innate immune response and promotes bowel inflammation.
Xu P et al.
Nature Communications, 2025
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.
Gunelson AM et al.
Journal of Human Genetics, 2025
Autocrine interferon poisoning mediates ADAR1-dependent synthetic lethality in BRCA1/2-mutant cancers.
Chabanon RM et al.
Nature Communications, 2025
Z-Form Stabilization By The Zα Domain Of Adar1p150 Has Subtle Effects On A-To-I Editing.
Nichols PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Biochemical profiling and structural basis of ADAR1-mediated RNA editing.
Deng X et al.
Molecular Cell, 2025
Zα and Zβ Localize ADAR1 to Flipons That Modulate Innate Immunity, Alternative Splicing, and Nonsynonymous RNA Editing.
Herbert A et al.
International Journal of Molecular Sciences, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
ADAR1: from basic mechanisms to inhibitors.
Rehwinkel J et al.
Trends in Cell Biology, 2025
[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].
I DV et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2025
Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.
Bauer AK et al.
Frontiers in Immunology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A et al.
Pediatric Rheumatology Online Journal, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
ADARp150 counteracts whole genome duplication.
van Gemert F et al.
Nucleic Acids Research, 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
The role of distinct APOBEC/ADAR mRNA levels in mutational signatures linked to aging and ultraviolet radiation.
Niavarani A
Scientific Reports, 2024
Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.
Liu X et al.
Biochemical Genetics, 2024
Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1.
Al Wardat S et al.
Genes & Diseases, 2024
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP et al.
Molecular Genetics and Metabolism, 2024
Novel insights into double-stranded RNA-mediated immunopathology.
de Reuver R et al.
Nature Reviews. Immunology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity.
Luca D et al.
Science Advances, 2024
Impact of Disease-Associated Mutations on the Deaminase Activity of ADAR1.
Karki A et al.
Biochemistry, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S et al.
The Journal of Clinical Investigation, 2024
Aicardi-Goutières syndrome and dyschromatosis symmetrica hereditaria due to compound heterozygous mutation of ADAR1, presentation of two cases.
Linares-Navarro R et al.
International Journal of Dermatology, 2023
Infantile-onset generalized dystonia with pigmentary mosaicism in ADAR gene mutation: A novel neurocutaneous phenotype.
Padmanabha H et al.
Parkinsonism & Related Disorders, 2023
Generation of a new Adar1p150 -/- mouse demonstrates isoform-specific roles in embryonic development and adult homeostasis.
Liang Z et al.
Rna (new York, N.y.), 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML et al.
Journal of Clinical Immunology, 2023
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
ADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing.
Guo X et al.
Cell Reports, 2023
The ADAR1 editome reveals drivers of editing-specificity for ADAR1-isoforms.
Kleinova R et al.
Nucleic Acids Research, 2023
The phenotype of the most common human ADAR1p150 Zα mutation P193A in mice is partially penetrant.
Liang Z et al.
Embo Reports, 2023
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex.
Crow YJ
Journal of Clinical Immunology, 2023
Differential Structural Features of Two Mutant ADAR1p150 Zα Domains Associated with Aicardi-Goutières Syndrome.
Langeberg CJ et al.
Journal of Molecular Biology, 2023
The RNA-editing enzyme ADAR1: a regulatory hub that tunes multiple dsRNA-sensing pathways.
Nakahama T et al.
International Immunology, 2023