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 basis of XPF-ERCC1 targeting to SLX4-dependent DNA repair pathways.
Feng J et al.
Nature Communications, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
Failla P et al.
International Journal of Molecular Sciences, 2024
Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure.
Muniesa-Vargas A 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
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
ERCC1-XPF targeting to psoralen-DNA crosslinks depends on XPA and FANCD2.
Sabatella M et al.
Cellular and Molecular Life Sciences : Cmls, 2020
SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair.
Zhang H et al.
Nucleic Acids Research, 2019
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.
Marín M et al.
Genes, 2019
Function and Interactions of ERCC1-XPF in DNA Damage Response.
Faridounnia M et al.
Molecules (basel, Switzerland), 2018
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
Distinct roles of XPF-ERCC1 and Rad1-Rad10-Saw1 in replication-coupled and uncoupled inter-strand crosslink repair.
Seol JH et al.
Nature Communications, 2018
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
Popp I et al.
Bmc Medical Genetics, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Recruitment and positioning determine the specific role of the XPF-ERCC1 endonuclease in interstrand crosslink repair.
Klein Douwel D et al.
The Embo Journal, 2017
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.
Hashimoto K et al.
Dna Repair, 2015
What a Difference an ERCC1 or ERCC4 (XPF) Mutation Makes!
Poot M
Molecular Syndromology, 2014
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K et al.
American Journal of Human Genetics, 2013