Associated Papers
PrimPol Variant V102A with Altered Primase and Polymerase Activities.
Boldinova EO et al.
Journal of Molecular Biology, 2024
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Wang Y et al.
The British Journal of Ophthalmology, 2023
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
Implications of Translesion DNA Synthesis Polymerases on Genomic Stability and Human Health.
Venkadakrishnan J et al.
Molecular and Cellular Biology, 2023
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Motif WFYY of human PrimPol is crucial to stabilize the incoming 3'-nucleotide during replication fork restart.
Calvo PA et al.
Nucleic Acids Research, 2021
PRIMPOL ready, set, reprime!
Tirman S et al.
Critical Reviews in Biochemistry and Molecular Biology, 2021
Identifying the role of PrimPol in TDF-induced toxicity and implications of its loss of function mutation in an HIV+ patient.
Duong VN et al.
Scientific Reports, 2020
Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia.
Yuan H et al.
Bmc Medical Genetics, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
Cai XB et al.
Investigative Ophthalmology & Visual Science, 2019
PRIMPOL mutation: functional study does not always reveal the truth.
Li J et al.
Investigative Ophthalmology & Visual Science, 2015
Author response: PRIMPOL mutation: functional study does not always reveal the truth.
Keen BA et al.
Investigative Ophthalmology & Visual Science, 2015
Exome sequencing reveals CCDC111 mutation associated with high myopia.
Zhao F et al.
Human Genetics, 2013