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Article

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

The Journal of biological chemistry - 21 May 2004

Nesbit M Andrew, Bowl Michael R, Harding Brian, Ali Asif, Ayala Alejandro, Crowe Carol, Dobbie Angus, Hampson Geeta, Holdaway Ian, Levine Michael A, McWilliams Robert, Rigden Susan, Sampson Julian, Williams Andrew J, Thakker Rajesh V

Abstract excerpt

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. The C-terminal zinc finger (ZnF2) binds DNA, whereas the N-terminal finger (ZnF1) stabilizes this DNA binding and interacts with other zinc finger proteins, such as the Friends of GATA (FOG). We have investigated seven HDR probands and...

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Identifiers

PMID: 14985365
DOI: 10.1074/jbc.M401797200

Genes

GATA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.PMID 14985365Read ↗

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