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Article

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.

Journal of the Association for Research in Otolaryngology : JARO - 1 Sept 2004

Zhang Yuzhou, Knosp Boyd M, Maconochie Mark, Friedman Rick A, Smith Richard J H

Abstract excerpt

Allele variants of EYA1 and EYA4, two members of the vertebrate Eya gene family, underlie two types of inherited human deafness, branchio-oto-renal (BOR) syndrome and DFNA10, respectively. To clarify how mutations in these two genes and their encoded proteins impact the normal biology of hearing, we completed a number of functional studies using the yeast-two-hybrid system. We verified that bait constructs of the...

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Source

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Identifiers

PMID: 15492887
DOI: 10.1007/s10162-004-4044-3
PMCID: PMC2504552

Genes

EYA1
EYA4

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.

Related research

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A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.PMID 15492887Read ↗

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Novel EYA1 variants causing Branchio-oto-renal syndrome.Semantic proximity Read ↗

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.Semantic proximity Read ↗

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1Semantic proximity Read ↗

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.Semantic proximity Read ↗

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.Semantic proximity Read ↗

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.Semantic proximity Read ↗

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.Semantic proximity Read ↗

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