Associated Papers
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
41630789 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
A case of severe Aicardi-Goutières syndrome with a homozygous RNASEH2B intronic variant.
Shibata Y et al.
Human Genome Variation, 2024
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Dragoni F et al.
Frontiers in Endocrinology, 2023
Analysis of ribonucleotide content in the genomic DNA of ribonuclease H2 A subunit (RH2A)-knockout NIH3T3 cells after transient expression of wild-type RH2A or RH2A variants with an Aicardi-Goutières syndrome-causing mutation.
Kandabashi M et al.
Journal of Biochemistry, 2022
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C et al.
Pediatric Neurology, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.
Nishimura T et al.
Journal of Biochemistry, 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
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
Abdel-Salam GMH et al.
Metabolic Brain Disease, 2017
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Rump P et al.
Bmc Medical Genomics, 2016
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
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease.
Reijns MA et al.
The Journal of Biological Chemistry, 2011
Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
Chon H et al.
Nucleic Acids Research, 2009
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.
Perrino FW et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Crow YJ et al.
Nature Genetics, 2006
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