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
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
Portuguese recommendations for the management of transthyretin amyloid cardiomyopathy (Part 1 of 2): Screening, diagnosis and treatment. Developed by the Task Force on the management of transthyretin amyloid cardiomyopathy of the Working Group on Myocardial and Pericardial Diseases of the Portuguese Society of Cardiology.
Marques N et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome 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
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
Misic J et al.
Nucleic Acids Research, 2022
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.
Posse V et al.
Plos 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
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Reyes A et al.
American Journal of Human Genetics, 2015