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Article

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

American journal of human genetics - 1 Feb 1996

Takayama K, Salazar E P, Broughton B C, Lehmann A R, Sarasin A, Thompson L H, Weber C A

Abstract excerpt

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and growth retardation. Clinical photosensitivity is present in approximately 50% of TTD patients but is not associated with an elevated frequency of cancers. Previous complementation studies show that the photosensitivity in nearly all of the studied...

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Identifiers

PMID: 8571952
PMCID: PMC1914548

Genes

ERCC2

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.PMID 8571952Read ↗

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.Semantic proximity Read ↗

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.Semantic proximity Read ↗

Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.Semantic proximity Read ↗

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.Semantic proximity Read ↗

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.Semantic proximity Read ↗

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.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 ↗

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.Semantic proximity Read ↗

The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.Semantic proximity Read ↗

Analysis of mutations in the XPD gene in a patient with brittle hair.Semantic proximity Read ↗

Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.Semantic proximity Read ↗

Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.Semantic proximity Read ↗

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