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

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

American journal of human genetics - 1 Jan 2006

Shahin Hashem, Walsh Tom, Sobe Tama, Abu Sa'ed Judeh, Abu Rayan Amal, Lynch Eric D, Lee Ming K, Avraham Karen B, King Mary-Claire, Kanaan Moein

Abstract excerpt

In a large consanguineous Palestinian kindred, we previously mapped DFNB28--a locus associated with recessively inherited, prelingual, profound sensorineural hearing impairment--to chromosome 22q13.1. We report here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [...

Read the complete abstract on PubMed

Topics

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

Share to Arabs
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cochlea

Share to Gene Components

Share to Genetic Linkage

Share to Hearing Loss

Share to Microfilament Proteins

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 16385458
DOI: 10.1086/499495
PMCID: PMC1380212

Genes

TRIOBP
TRIO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16385458-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.PMID 16385458Read ↗

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.Semantic proximity Read ↗

Emerging roles of TRIO and F-actin-binding protein in human diseases.Semantic proximity Read ↗

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.Semantic proximity Read ↗

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.Semantic proximity Read ↗

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.Semantic proximity Read ↗

[Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].Semantic proximity Read ↗

Analysis of TRIOBP gene in non-syndromic deafness: A case report.Semantic proximity Read ↗

A Rare Variant in <i>TRIOBP</i> Linked to Occupational Noise Exposure in Meniere DiseaseSemantic proximity Read ↗

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.Semantic proximity Read ↗

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.Semantic proximity Read ↗

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.Semantic proximity Read ↗

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