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

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

Human molecular genetics - 1 Jun 1994

Nouspikel T, Clarkson S G

Abstract excerpt

The human XPG (ERCC5) gene encodes a large acidic protein that corrects the ultraviolet light sensitivity of cells from both xeroderma pigmentosum complementation group G and rodent ERCC group 5. Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO. Three of these changes are polymorphic variants whereas the remaining two, one in each XPG allele, inactivate...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cell Line

Share to DNA-Binding Proteins

Share to DNA Primers

Share to Molecular Sequence Data

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 7951246
DOI: 10.1093/hmg/3.6.963

Genes

ERCC5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.PMID 7951246Read ↗

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

Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.Semantic proximity Read ↗

Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.Semantic proximity Read ↗

Characterization of molecular defects in xeroderma pigmentosum group C.Semantic proximity Read ↗

Conserved Residues of Human XPG Protein Important for Nuclease Activity and Function in Nucleotide Excision RepairSemantic proximity Read ↗

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.Semantic proximity Read ↗

Characterisation of a novel missense mutation in the ERCC5 gene leading to group G xeroderma pigmentosum/Cockayne syndrome overlap.Semantic proximity Read ↗

Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications.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 ↗

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.Semantic proximity Read ↗

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.Semantic proximity Read ↗

Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant.Semantic proximity Read ↗

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