Associated Papers
Four germline POLH variants, including two found in skin tumors, impair DNA polymerase η function and cellular tolerance to UV radiation and cisplatin.
Hong JK et al.
Chemico-biological Interactions, 2025
A compound heterozygous Chinese patient with xeroderma pigmentosum variant type caused by novel POLH variants.
Habulieti X et al.
Experimental Dermatology, 2023
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Aberrant C-terminal domain of polymerase η targets the functional enzyme to the proteosomal degradation pathway.
Ahmed-Seghir S et al.
Dna Repair, 2015
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Opletalova K et al.
Human Mutation, 2014
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