Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).

Disease models & mechanisms - 1 Sept 2013

Sheehan-Rooney Kelly, Swartz Mary E, Zhao Feng, Liu Dong, Eberhart Johann K

Abstract excerpt

The severity of most human birth defects is highly variable. Our ability to diagnose, treat and prevent defects relies on our understanding of this variability. Mutation of the transcription factor GATA3 in humans causes the highly variable hypoparathyroidism, sensorineural deafness and renal dys...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Craniofacial Abnormalities
Share to GATA3 Transcription Factor
Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HSP90 Heat-Shock Proteins

Share to Hypoparathyroidism

Share to Injections

Share to Morpholinos

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23720234
DOI: 10.1242/dmm.011965
PMCID: PMC3759348

Genes

GATA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23720234-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).PMID 23720234Read ↗

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndromeSemantic proximity Read ↗

A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome.Semantic proximity Read ↗

Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice.Semantic proximity Read ↗

Variation in phenotypes from a Bmp-Gata3 genetic pathway is modulated by Shh signaling.Semantic proximity Read ↗

Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the firstGATA3mutationsSemantic proximity Read ↗

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.Semantic proximity Read ↗

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome.Semantic proximity Read ↗

Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.Semantic proximity Read ↗

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.Semantic proximity Read ↗

A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).Semantic proximity Read ↗

Fam83h null mice support a neomorphic mechanism for human ADHCAISemantic proximity Read ↗

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.