Associated Papers
Germline mutation analysis and postoperative recurrence risk prediction in breast cancer patients from western China.
Deng Z et al.
Translational Oncology, 2025
Molecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.
Yu J et al.
Nature Communications, 2024
Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.
Sargen MR et al.
Genetics in Medicine Open, 2024
XPG: a multitasking genome caretaker.
Muniesa-Vargas A et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair.
González-Corrochano R et al.
Nucleic Acids Research, 2020
Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.
Tsutakawa SE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.
Chikhaoui A et al.
Frontiers in Genetics, 2019
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features.
Ricotti R et al.
Clinical Genetics, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Drury S et al.
American Journal of Medical Genetics. Part A, 2014
Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.
Sehgal M et al.
Gene, 2014
Crystal structure of the catalytic core of Rad2: insights into the mechanism of substrate binding.
Miętus M et al.
Nucleic Acids Research, 2014
Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.
Schäfer A et al.
The Journal of Investigative Dermatology, 2013
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
Soltys DT et al.
Human Mutation, 2013
XPG: its products and biological roles.
Schärer OD
Advances in Experimental Medicine and Biology, 2008
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
Emmert S et al.
The Journal of Investigative Dermatology, 2002
Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.
Feltes BC
Mutation Research. Reviews in Mutation Research, 0