Associated Papers
Heterozygous ADAR mutant mice exhibit RNA sensing-dependent neuroinflammation and phenotypes associated with Aicardi-Goutières syndrome.
Guo X et al.
Iscience, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Monogenic and SLE-like disorders in the pediatric population: insights from a Northern Israel cohort.
Spivak I et al.
Lupus, 2026
Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Dale RC et al.
Clinical & Translational Immunology, 2026
Autocrine interferon poisoning mediates ADAR1-dependent synthetic lethality in BRCA1/2-mutant cancers.
Chabanon RM et al.
Nature Communications, 2025
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.
Poli MC et al.
Journal of Human Immunity, 2025
Biochemical profiling and structural basis of ADAR1-mediated RNA editing.
Deng X et al.
Molecular Cell, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Genetic investigations in cerebral palsy.
Basu AP et al.
Developmental Medicine and Child Neurology, 2025
Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.
Del Gamba C et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 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
Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.
Politano D et al.
Expert Opinion on Emerging Drugs, 2024
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
Adult-onset cranio-cervical segmental dystonia due to ADAR1 gene mutation: A novel phenotype.
Mahale R et al.
Parkinsonism & Related Disorders, 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
Nucleotide metabolism, leukodystrophies, and CNS pathology.
Gavazzi F et al.
Journal of Inherited Metabolic Disease, 2024
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Structural impacts of two disease-linked ADAR1 mutants: a molecular dynamics study.
Huang WC et al.
Journal of Computer-aided Molecular Design, 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
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
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
Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.
Garcia L et al.
Stem Cell Research, 2024
ADAR1 links R-loop homeostasis to ATR activation in replication stress response.
Zhang B et al.
Nucleic Acids Research, 2023
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML et al.
Journal of Clinical Immunology, 2023
Emerging role of the RNA-editing enzyme ADAR1 in stem cell fate and function.
Lu D et al.
Biomarker Research, 2023
In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population.
Nanjundagowda VK et al.
Cureus, 2023
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex.
Crow YJ
Journal of Clinical Immunology, 2023
The RNA-editing enzyme ADAR1: a regulatory hub that tunes multiple dsRNA-sensing pathways.
Nakahama T et al.
International Immunology, 2023
RNA-directed DNA repair and antibody somatic hypermutation.
Franklin A et al.
Trends in Genetics : Tig, 2022
Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome.
Zeng YH et al.
Neurology, 2022
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
Jones HF et al.
Brain & Development, 2022
The role of RNA editing enzyme ADAR1 in human disease.
Song B et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.
Liu L et al.
Frontiers in Pediatrics, 2022
Deciphering the Biological Significance of ADAR1-Z-RNA Interactions.
Nakahama T et al.
International Journal of Molecular Sciences, 2021
ADAR RNA Modifications, the Epitranscriptome and Innate Immunity.
Quin J et al.
Trends in Biochemical Sciences, 2021
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
RNA Editing in Interferonopathies.
Frassinelli L et al.
Methods in Molecular Biology (clifton, N.j.), 2021
JAK Inhibition in the Aicardi-Goutières Syndrome.
Neven B et al.
The New England Journal of Medicine, 2020
Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.
Di Lazzaro G et al.
Parkinsonism & Related Disorders, 2020
Cardiac valve involvement in ADAR-related type I interferonopathy.
Crow Y et al.
Journal of Medical Genetics, 2020
Treatments in Aicardi-Goutières syndrome.
Crow YJ et al.
Developmental Medicine and Child Neurology, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019