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
Role of the nucleotide excision repair endonuclease XPF in the kinetoplastid parasite Trypanosoma brucei.
Gómez-Liñán C et al.
Scientific Reports, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 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
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
Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.
Ter Brugge P et al.
Nature Communications, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 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
ERCC1-XPF targeting to psoralen-DNA crosslinks depends on XPA and FANCD2.
Sabatella M et al.
Cellular and Molecular Life Sciences : Cmls, 2020
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M et al.
Journal of Medical Genetics, 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
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T et al.
Human Mutation, 2018
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
Popp I et al.
Bmc Medical Genetics, 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
DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.
Stoepker C et al.
Dna Repair, 2015
Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair.
Hodskinson MR et al.
Molecular Cell, 2014
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Osorio A et al.
Human Mutation, 2013
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M et al.
American Journal of Human Genetics, 2013