Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.

DNA repair - 15 Jul 2011

Gregg Siobhán Q, Robinson Andria Rasile, Niedernhofer Laura J

Abstract excerpt

ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-skeletal syndrome, characterized by increased risk of cancer, accelerated aging and severe developmental abnormalities, respectively. This review...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Repair
Share to DNA Damage
Share to Endonucleases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Knockout

Share to Neurodegenerative Diseases

Share to Rare Diseases

Share to Telomere

Share to Ultraviolet Rays

Source

Open in PubMed Open full text

Identifiers

PMID: 21612988
DOI: 10.1016/j.dnarep.2011.04.026
PMCID: PMC3139823

Genes

ERCC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.PMID 21612988Read ↗

Function and Interactions of ERCC1-XPF in DNA Damage ResponseSemantic proximity Read ↗

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.Semantic proximity Read ↗

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.Semantic proximity Read ↗

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.Semantic proximity Read ↗

ERCC1-XPF Endonuclease Facilitates DNA Double-Strand Break RepairSemantic proximity Read ↗

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype PatternsSemantic proximity Read ↗

The Structure of the Human ERCC1/XPF Interaction Domains Reveals a Complementary Role for the Two Proteins in Nucleotide Excision RepairSemantic proximity Read ↗

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.Semantic proximity Read ↗

Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.Semantic proximity Read ↗

Hereditary cancer syndromesSemantic proximity Read ↗

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.Semantic proximity Read ↗

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.