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
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: Table1.XLSX › Sheet1
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.
Manini A et al.
Frontiers in Genetics, 2022
RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.
Posse V et al.
Plos Genetics, 2019
Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.
Carreño-Gago L et al.
Frontiers in Genetics, 2019
RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA.
Reyes A et al.
Frontiers in Genetics, 2019
A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.
Al-Behadili A et al.
Nucleic Acids Research, 2018
Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient.
Sachdev A et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2018
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Bugiardini E et al.
Neurology. Genetics, 2017
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Reyes A et al.
American Journal of Human Genetics, 2015
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