Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Mouse models of type I interferonopathies.
Luca D et al.
Human Molecular Genetics, 2025
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
Distinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome ortholog mutants of Saccharomyces cerevisiae.
Kundnani DL et al.
Iscience, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Distinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome (AGS)-ortholog mutants of Saccharomyces cerevisiae.
Kundnani DL et al.
Biorxiv : the Preprint Server for Biology, 2023
Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
Liu A et al.
Scandinavian Journal of Immunology, 2023
Construction and characterization of ribonuclease H2 C subunit-knockout NIH3T3 cells.
Hara H et al.
Bioscience, Biotechnology, and Biochemistry, 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
Genome integrity and inflammation in the nervous system.
Aditi et al.
Dna Repair, 2022
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
Molecular and physiological consequences of faulty eukaryotic ribonucleotide excision repair.
Kellner V et al.
The Embo Journal, 2020
Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.
Nishimura T et al.
Journal of Biochemistry, 2019
Genome instability consequences of RNase H2 Aicardi-Goutières syndrome alleles.
Potenski CJ et al.
Dna Repair, 2019
Aicardi-Goutières syndrome gene Rnaseh2c is a metastasis susceptibility gene in breast cancer.
Deasy SK et al.
Plos Genetics, 2019
Aberrantly High Levels of Somatic LINE-1 Expression and Retrotransposition in Human Neurological Disorders.
Terry DM et al.
Frontiers in Genetics, 2019
N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Yang K et al.
The Journal of Experimental Medicine, 2018
The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders.
Moghaddas F et al.
Clinical Science (london, England : 1979), 2018
RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.
Benitez-Guijarro M et al.
The Embo Journal, 2018
Genetic interferonopathies: An overview.
Eleftheriou D et al.
Best Practice & Research. Clinical Rheumatology, 2017
Is the role of human RNase H2 restricted to its enzyme activity?
Feng S et al.
Progress in Biophysics and Molecular Biology, 2016
RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice.
Pokatayev V et al.
The Journal of Experimental Medicine, 2016
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.
Pizzi S et al.
Human Molecular Genetics, 2015
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
Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
Kind B et al.
Human Molecular Genetics, 2014
Ribonuclease H2 in health and disease.
Reijns MA et al.
Biochemical Society Transactions, 2014
Aicardi-Goutieres syndrome: from patients to genes and beyond.
Chahwan C et al.
Clinical Genetics, 2012
Ribonuclease H: the enzymes in eukaryotes.
Cerritelli SM et al.
The Febs Journal, 2009
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
Effect of the disease-causing mutations identified in human ribonuclease (RNase) H2 on the activities and stabilities of yeast RNase H2 and archaeal RNase HII.
Rohman MS et al.
The Febs Journal, 2008
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Crow YJ et al.
Nature Genetics, 2006