Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Molecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.
Yu J et al.
Nature Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Characterisation of a novel missense mutation in the ERCC5 gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap.
Stehnach WC et al.
Bmj Case Reports, 2023
Cancer carrier screening in the general population using whole-genome sequencing.
Chang YS et al.
Cancer Medicine, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
XPG: a multitasking genome caretaker.
Muniesa-Vargas A et al.
Cellular and Molecular Life Sciences : Cmls, 2022
COFS type 3 in an Indian family with antenatally detected arthrogryposis.
Panigrahi I et al.
American Journal of Medical Genetics. Part A, 2021
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
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
Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.
Feltes BC
Mutation Research. Reviews in Mutation Research, 0