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

doi:10.1016/j.ajhg.2013.04.007

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

Community

Back to search

Article

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

American journal of human genetics - 2 May 2013

Kashiyama Kazuya, Nakazawa Yuka, Pilz Daniela T, Guo Chaowan, Shimada Mayuko, Sasaki Kensaku, Fawcett Heather, Wing Jonathan F, Lewin Susan O, Carr Lucinda, Li Tao-Sheng, Yoshiura Koh-ichiro, Utani Atsushi, Hirano Akiyoshi, Yamashita Shunichi, Greenblatt Danielle, Nardo Tiziana, Stefanini Miria, McGibbon David, Sarkany Robert, Fassihi Hiva, Takahashi Yoshito, Nagayama Yuji, Mitsutake Norisato, Lehmann Alan R, Ogi Tomoo

Abstract excerpt

Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare...

Read the complete abstract on PubMed

Topics

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

Share to Cockayne Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to DNA Primers

Share to Endonucleases

Share to Fanconi Anemia

Share to Fatal Outcome

Share to Sequence Analysis, DNA

Share to Xeroderma Pigmentosum

Source

Open in PubMed Open full text

Identifiers

PMID: 23623389
DOI: 10.1016/j.ajhg.2013.04.007
PMCID: PMC3644632

Genes

ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.PMID 23623389Read ↗

Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.Semantic proximity Read ↗

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.Semantic proximity Read ↗

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

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

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?Semantic proximity Read ↗

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

Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.Semantic proximity Read ↗

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

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.Semantic proximity Read ↗

Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.Semantic proximity Read ↗

Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.Semantic proximity Read ↗

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.Semantic proximity Read ↗

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