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Article

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

European journal of human genetics : EJHG - 1 Aug 2013

Zhou Xiaolong, Khan Sikandar G, Tamura Deborah, Ueda Takahiro, Boyle Jennifer, Compe Emmanuel, Egly Jean-Marc, DiGiovanna John J, Kraemer Kenneth H

Abstract excerpt

XPD (ERCC2) is a DNA helicase involved in nucleotide excision repair and in transcription as a structural bridge tying the transcription factor IIH (TFIIH) core with the cdk-activating kinase complex, which phosphorylates nuclear receptors. Mutations in XPD are associated with several different phenotypes, including trichothiodystrophy (TTD), with sulfur-deficient brittle hair, bone defects, and developmental...

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Source

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Identifiers

PMID: 23232694
DOI: 10.1038/ejhg.2012.246
PMCID: PMC3722669

Genes

VDR
ERCC2
KLF9

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

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Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.PMID 23232694Read ↗

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 ↗

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

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.Semantic proximity Read ↗

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

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.Semantic proximity Read ↗

Trichothiodystrophy: from basic mechanisms to clinical implications.Semantic proximity Read ↗

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

Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.Semantic proximity Read ↗

TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.Semantic proximity Read ↗

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.Semantic proximity Read ↗

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

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