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Article

Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.

Human molecular genetics - 15 Jun 2008

Corry Gareth N, Hendzel Michael J, Underhill D Alan

Abstract excerpt

Mutations in the transcription factor PAX3 cause Waardenburg syndrome (WS) in humans and the mouse Splotch mutant, which display similar neural crest-derived defects. Previous characterization of disease-causing mutations revealed pleiotropic effects on PAX3 DNA binding and transcriptional activity. In this study, we evaluated the impact of disease alleles on PAX3 localization and mobility. Immunofluorescence...

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Source

Identifiers

PMID: 18325909
DOI: 10.1093/hmg/ddn076

Genes

PAX3

Variants

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.

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Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.PMID 18325909Read ↗

The PAX3 paired domain and homeodomain function as a single binding module in vivo to regulate subnuclear localization and mobility by a mechanism that requires base-specific recognition.Semantic proximity Read ↗

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.Semantic proximity Read ↗

The expression and function of PAX3 in development and disease.Semantic proximity Read ↗

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.Semantic proximity Read ↗

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.Semantic proximity Read ↗

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.Semantic proximity Read ↗

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?Semantic proximity Read ↗

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.Semantic proximity Read ↗

Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.Semantic proximity Read ↗

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).Semantic proximity Read ↗

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Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.Semantic proximity Read ↗

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