Associated Papers
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.
White SM et al.
European Journal of Human Genetics : Ejhg, 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 after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Du H et al.
Genome Medicine, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular Biology, 2022
ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.
Apelt K et al.
The Journal of Experimental Medicine, 2021
Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A.
García-Carmona JA et al.
Frontiers in Genetics, 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
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
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.
Shanbhag NM et al.
Neurology. 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
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.
Hashimoto K et al.
Dna Repair, 2015
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M et al.
American Journal of Human Genetics, 2013
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
Xeroderma pigmentosum group F protein binds to Eg5 and is required for proper mitosis: implications for XP-F and XFE.
Tan LJ et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2012
Role of interaction of XPF with RPA in nucleotide excision repair.
Fisher LA et al.
Journal of Molecular Biology, 2011
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
Ahmad A et al.
Plos Genetics, 2010
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.
Niedernhofer LJ et al.
Nature, 2006