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
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells.
Dragoni F et al.
Genes, 2025
The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.
Aydin H et al.
Developmental Neurobiology, 2025
Association between glaucoma susceptibility with combined defects in mitochondrial oxidative phosphorylation and fatty acid beta oxidation.
Ulhaq ZS et al.
Molecular Aspects of Medicine, 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
38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1
Single-cell multi-gene identification of somatic mutations and gene rearrangements in cancer.
Grimes SM et al.
Nar Cancer, 2023
37435532 (PubMed )
Supplement: zcad034_supplemental_files.zip › Tables_Supplementary.xlsx › SpTable03_Jurkat_mutations
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
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Dragoni F et al.
Frontiers in Endocrinology, 2023
Characterization of Mitochondrial Alterations in Aicardi-Goutières Patients Mutated in RNASEH2A and RNASEH2B Genes.
Dragoni F et al.
International Journal of Molecular Sciences, 2022
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations.
Garau J et al.
Cellular & Molecular Immunology, 2021
Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis.
Suda K et al.
Cancer Science, 2020
32473611 (PubMed )
Supplement: CAS-111-3000-s008.xls › Sheet1
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
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
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
Coffin SR et al.
The Journal of Biological Chemistry, 2011
Select a paper to view details