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Article

Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity.

FEBS letters - 10 Jul 2006

Rayapureddi Jayanagendra P, Hegde Rashmi S

Abstract excerpt

The Eyes Absent (Eya) proteins are tyrosine phosphatases and transcriptional activators involved in cell-fate determination and organ development. Mutations in the gene encoding Eya homologue 1 have been implicated in the multi-organ developmental disorder branchio-oto-renal syndrome (BOR) and in ocular defects. Here we report that BOR-associated mutations lead to a loss of phosphatase activity in Eya1 proteins,...

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Source

Identifiers

PMID: 16797546
DOI: 10.1016/j.febslet.2006.06.009

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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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