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Article

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

European journal of human genetics : EJHG - 1 Jun 2012

Moslehi Roxana, Kumar Anil, Mills James L, Ambroggio Xavier, Signore Caroline, Dzutsev Amiran

Abstract excerpt

Mutations in XPD (ERCC2), XPB (ERCC3), and TTD-A (GTF2H5), genes involved in nucleotide excision repair and transcription, can cause several disorders including trichothiodystrophy (TTD) and xeroderma pigmentosum (XP). In this study, we tested the hypothesis that mutations in the XPD gene affect placental development in a phenotype-specific manner. To test our hypothesis and decipher potential biologic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22234153
DOI: 10.1038/ejhg.2011.249
PMCID: PMC3355251

Genes

ERCC2
ERCC3

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.

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Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.PMID 22234153Read ↗

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

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

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

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 ↗

Prenatal Diagnosis of Trichothiodystrophy Associated with a Novel ERCC2 Variant: Expanding the Genotype–Phenotype Spectrum— a case reportSemantic proximity Read ↗

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Role of XPD in cellular functions: To TFIIH and beyond.Semantic proximity Read ↗

TFIIH: from transcription to clinicSemantic proximity Read ↗

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

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