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
ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.
Apelt K et al.
The Journal of Experimental Medicine, 2021
Deficiency in the DNA repair protein ERCC1 triggers a link between senescence and apoptosis in human fibroblasts and mouse skin.
Kim DE et al.
Aging Cell, 2020
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
DNA repair endonuclease ERCC1-XPF as a novel therapeutic target to overcome chemoresistance in cancer therapy.
McNeil EM et al.
Nucleic Acids Research, 2012
The NER proteins XPC and CSB, but not ERCC1, regulate the sensitivity to the novel DNA binder S23906: implications for recognition and repair of antitumor alkylators.
Rocca CJ et al.
Biochemical Pharmacology, 2010
First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.
Jaspers NG et al.
American Journal of Human Genetics, 2007
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