Associated Papers
Deep Brain Stimulation in a Child with Aicardi-Goutières Syndrome-7 (AGS7): A Case Report and Literature Review.
Yoganathan S et al.
Movement Disorders Clinical Practice, 2025
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
Mouse models of type I interferonopathies.
Luca D et al.
Human Molecular Genetics, 2025
Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling.
Natsumoto B et al.
Journal of Clinical Immunology, 2025
Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.
Yamazaki S et al.
Immunological Medicine, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.
Taylor JP et al.
Journal of Immunology (baltimore, Md. : 1950), 2024
LASSO-derived nomogram for early identification of pediatric monogenic lupus.
Zhang TY et al.
World Journal of Pediatrics : Wjp, 2024
MDA5 gain-of-function associated with a Glu794del mutation.
Wong C et al.
Journal of Clinical Immunology, 2024
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP et al.
Molecular Genetics and Metabolism, 2024
Innate immune responses to RNA: sensing and signaling.
Luan X et al.
Frontiers in Immunology, 2024
Functional evaluation of rare OASL variants by analysis of SLE patient-derived iPSCs.
Natsumoto B et al.
Journal of Autoimmunity, 2023
MDA5-dependent responses contribute to autoimmune diabetes progression and hindrance.
Blum SI et al.
Jci Insight, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
A zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients.
Bernal-Bermúdez B et al.
Frontiers in Immunology, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.
Wang W et al.
World Journal of Pediatrics : Wjp, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Disseminated drug-resistant tuberculosis and multiple autoimmune syndrome in a child with selective IgA deficiency-An uncustomary combination.
Nori H et al.
International Journal of Rheumatic Diseases, 2022
Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis.
Ohto T et al.
Journal of Autoimmunity, 2022
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N et al.
Nature Communications, 2021
MDA5 disease variant M854K prevents ATP-dependent structural discrimination of viral and cellular RNA.
Yu Q et al.
Nature Communications, 2021
Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
Lu M et al.
American Journal of Medical Genetics. Part A, 2021
Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutières Syndrome and Singleton-Merten Syndrome.
Gosu V et al.
Biomolecules, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Tise CG et al.
American Journal of Medical Genetics. Part A, 2021
Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.
Abu Tayeh A et al.
International Immunology, 2021
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.
Liu G et al.
Immunity, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond.
Demirkaya E et al.
Journal of Clinical Medicine, 2020
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Tüngler V et al.
Neurology. Genetics, 2020
Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.
Zheng S et al.
Frontiers in Immunology, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J et al.
Journal of Clinical Medicine, 2019
Antiviral Adaptor MAVS Promotes Murine Lupus With a B Cell Autonomous Role.
Sun W et al.
Frontiers in Immunology, 2019
Mutations of deubiquitinase OTUD1 are associated with autoimmune disorders.
Lu D et al.
Journal of Autoimmunity, 2018
Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features.
Sugawara Y et al.
The Journal of Allergy and Clinical Immunology, 2018
Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation.
Ahmad S et al.
Cell, 2018