Associated Papers
The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.
Aydin H et al.
Developmental Neurobiology, 2025
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.
Nishimura T et al.
Journal of Biochemistry, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.
Wang BX et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2017
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
Ribonuclease H2 in health and disease.
Reijns MA et al.
Biochemical Society Transactions, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
Coffin SR et al.
The Journal of Biological Chemistry, 2011
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