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
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.
Ricciardiello R et al.
Scientific Reports, 2024
Identification of Three Human POLH Germline Variants Defective in Complementing the UV- and Cisplatin-Sensitivity of POLH-Deficient Cells.
Yeom M et al.
International Journal of Molecular Sciences, 2023
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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