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Article

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.

Human molecular genetics - 1 Oct 1994

Frederick G D, Amirkhan R H, Schultz R A, Friedberg E C

Abstract excerpt

Individuals affected by the autosomal recessive disease xeroderma pigmentosum (XP) are acutely sensitive to sunlight and predisposed to skin cancer on exposed areas. Cells cultured from XP patients are both UV sensitive and defective in the nucleotide excision repair of damaged DNA. These cellula...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Cell Line
Cell Survival
Cloning, Molecular
DNA
DNA Helicases
DNA Mutational Analysis
DNA Primers
DNA Repair
DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exons

Fishes

Genes, Recessive

Humans

Leucine

Source

Identifiers

PMID: 7849702
DOI: 10.1093/hmg/3.10.1783

Genes

ERCC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7849702-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.PMID 7849702Read ↗

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

Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.Semantic proximity Read ↗

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.Semantic proximity Read ↗

Common XPD (ERCC2) polymorphisms have no measurable effect on nucleotide excision repair and basal transcription.Semantic proximity Read ↗

The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.Semantic proximity Read ↗

ERCC2/XPD gene polymorphisms and cancer risk.Semantic proximity Read ↗

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.Semantic proximity Read ↗

Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients.Semantic proximity Read ↗

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).Semantic proximity Read ↗

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

Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.Semantic proximity Read ↗

Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.Semantic proximity Read ↗

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