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Article

A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.

Disease models & mechanisms - 1 Jan 2015

Stettler Karin, Li Xiaoming, Sandrock Björn, Braga-Lagache Sophie, Heller Manfred, Dümbgen Lutz, Suter Beat

Abstract excerpt

XPD functions in transcription, DNA repair and in cell cycle control. Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigmentosum (XP), Cockayne syndrome (XP/CS) and trichothiodystrophy (TTD), and only XP patients have a high predisposition to developing cancer. Hence, we developed a fly model to obtain novel insights into the defects caused by individual hypomorphic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25431422
DOI: 10.1242/dmm.016907
PMCID: PMC4283652

Genes

ERCC2

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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A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.PMID 25431422Read ↗

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On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutationsSemantic proximity Read ↗

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.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 ↗

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