Associated Papers
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
39769235 (PubMed )
Supplement: ijms-25-13471-s001.zip › ijms-3315401-supplementary.xlsx › Foglio1
Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor-mimicking lesions in the brain and acute neurological deterioration.
Özdemir ZC et al.
Pediatric Blood & 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
38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1
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
30658521 (PubMed )
Supplement: genes-10-00060-s001.pdf
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
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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
Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.
Feltes BC
Mutation Research. Reviews in Mutation Research, 0
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