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Article

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

American journal of medical genetics - 1 Jul 2002

Kobayashi Takehiro, Uchiyama Makoto, Fukuro Shuhei, Tanaka Kiyoji

Abstract excerpt

Xeroderma pigmentosum (XP) is a sun-sensitive and cancer-prone genetic disorder consisting of seven genetically distinct complementation groups (groups A-G). XP group D (XP-D) is a heterogeneous group. Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. XPD protein is required for both nucleotide excision repair...

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PMID: 12116233
DOI: 10.1002/ajmg.10465

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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.

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Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.PMID 12116233Read ↗

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.Semantic proximity Read ↗

A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.Semantic proximity Read ↗

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.Semantic proximity Read ↗

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

The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.Semantic proximity Read ↗

Characterization of molecular defects in xeroderma pigmentosum group C.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 ↗

Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.Semantic proximity Read ↗

Do we know the cause of xeroderma pigmentosum?Semantic proximity Read ↗

Codominance associated with overexpression of certain XPD mutations.Semantic proximity Read ↗

Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells.Semantic proximity Read ↗

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

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