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
Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.
Sayadi A et al.
Lupus Science & Medicine, 2025
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
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 pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK et al.
Annals of the Rheumatic Diseases, 2021
33037003 (PubMed )
Supplement: annrheumdis-2020-218636supp002.pdf
Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.
Nishimura T et al.
Journal of Biochemistry, 2019
Is the role of human RNase H2 restricted to its enzyme activity?
Feng S et al.
Progress in Biophysics and Molecular Biology, 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
Ribonuclease H2 in health and disease.
Reijns MA et al.
Biochemical Society Transactions, 2014
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Rice GI et al.
Human Mutation, 2013
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
Coffin SR et al.
The Journal of Biological Chemistry, 2011
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