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Article

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.

Nature genetics - 1 Mar 1998

Watanabe A, Takeda K, Ploplis B, Tachibana M

Abstract excerpt

Waardenburg syndrome (WS) is a hereditary disorder that causes hypopigmentation and hearing impairment. Depending on additional symptoms, WS is classified into four types: WS1, WS2, WS3 and WS4. Mutations in MITF (microphthalmia-associated transcription factor) and PAX3, encoding transcription fa...

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Source

Identifiers

PMID: 9500554
DOI: 10.1038/ng0398-283

Genes

MITF
PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9500554-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.PMID 9500554Read ↗

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

The mutational spectrum in Waardenburg syndrome.Semantic proximity Read ↗

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.Semantic proximity Read ↗

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

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.Semantic proximity Read ↗

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.Semantic proximity Read ↗

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 ↗

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.Semantic proximity Read ↗

Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.Semantic proximity Read ↗

Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes.Semantic proximity Read ↗

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.Semantic proximity Read ↗

Review and update of mutations causing Waardenburg syndrome.Semantic proximity Read ↗

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