Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

doi:10.1038/ejhg.2014.132

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

Community

Back to search

Article

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

European journal of human genetics : EJHG - 1 Apr 2015

Romanelli Tavares Vanessa L, Gordon Christopher T, Zechi-Ceide Roseli M, Kokitsu-Nakata Nancy Mizue, Voisin Norine, Tan Tiong Y, Heggie Andrew A, Vendramini-Pittoli Siulan, Propst Evan J, Papsin Blake C, Torres Tatiana T, Buermans Henk, Capelo Luciane Portas, den Dunnen Johan T, Guion-Almeida Maria L, Lyonnet Stanislas, Amiel Jeanne, Passos-Bueno Maria Rita

Abstract excerpt

Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1-EDNRA pathway during early pharyngeal arch patterning. To date, two GNAI3 variants in three families have been reported. Here we report three novel GNAI3...

Read the complete abstract on PubMed

Topics

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

Share to Branchial Region

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brazil

Share to Ear

Share to Genetic Variation

Share to GTP-Binding Protein alpha Subunits, Gi-Go

Share to Pedigree

Share to Phenotype

Share to Protein Conformation

Source

Open in PubMed Open full text

Identifiers

PMID: 25026904
DOI: 10.1038/ejhg.2014.132
PMCID: PMC4666574

Genes

GNAI3
EDN1
EDNRA
PLCB4

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.PMID 25026904Read ↗

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.Semantic proximity Read ↗

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.Semantic proximity Read ↗

Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.Semantic proximity Read ↗

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.Semantic proximity Read ↗

Novel GNAI3 mutation in a Chinese auriculocondylar syndrome family and treatment of severe dentofacial deformities: A 5-years follow-up case reportSemantic proximity Read ↗

Novel GNAI3 mutation in a Chinese family with auriculocondylar syndrome and treatment of severe dentofacial deformities: a 5-year follow-up case report.Semantic proximity Read ↗

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.Semantic proximity Read ↗

Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.Semantic proximity Read ↗

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.Semantic proximity Read ↗

Auriculocondylar Syndrome: Pathogenesis, Clinical manifestations and Surgical therapiesSemantic proximity Read ↗

A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.Semantic proximity Read ↗

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.Semantic proximity Read ↗

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