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Article

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.

The Journal of biological chemistry - 31 Jul 2009

Patrick Aaron N, Schiemann Barbara J, Yang Kui, Zhao Rui, Ford Heide L

Abstract excerpt

Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by hearing loss, branchial arch defects, and renal anomalies. Recently, eight mutations in the SIX1 homeobox gene were discovered in BOR patients. To characterize the effect of SIX1 BOR mutations on the EYA-SIX1-DNA complex, we expressed and purified six of the eight mutants in Escherichia coli. We demonstrate that...

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Source

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Identifiers

PMID: 19497856
DOI: 10.1074/jbc.M109.016832
PMCID: PMC2742842

Genes

SIX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.PMID 19497856Read ↗

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