Associated Papers
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
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
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
Structure and mechanism of human DNA polymerase eta.
Biertümpfel C et al.
Nature, 2010
A backup role of DNA polymerase kappa in Ig gene hypermutation only takes place in the complete absence of DNA polymerase eta.
Faili A et al.
Journal of Immunology (baltimore, Md. : 1950), 2009
Xeroderma pigmentosum variant, XP-V: its product and biological roles.
Masutani C et al.
Advances in Experimental Medicine and Biology, 2008
Modulation of oxidative mutagenesis and carcinogenesis by polymorphic forms of human DNA repair enzymes.
Nohmi T et al.
Mutation Research, 2005
Molecular genetics of Xeroderma pigmentosum variant.
Gratchev A et al.
Experimental Dermatology, 2003
Structure-based interpretation of missense mutations in Y-family DNA polymerases and their implications for polymerase function and lesion bypass.
Boudsocq F et al.
Dna Repair, 2002
Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.
Feltes BC et al.
Mutation Research. Reviews in Mutation Research, 0
Select a paper to view details