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

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.

Neural plasticity - 1 Jan 2016

He Longxia, Pang Xiuhong, Chen Penghui, Wu Hao, Yang Tao

Abstract excerpt

Autosomal dominant nonsyndromic hearing loss (ADNSHL) is extremely heterogeneous. So far the genetic etiological contribution of the gene POU4F3 associated with ADNSHL has been rarely reported. In our previous study, a c.603_604delGG mutation in the hair cell specific gene POU4F3 has been identified as the pathogenic cause in one of the seven Chinese Han ADNSHL families. In the present study, we performed...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Asian People
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Cells, Auditory

Share to Hearing Loss, Sensorineural

Share to Homeodomain Proteins

Share to Pedigree

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 28053790
DOI: 10.1155/2016/9890827
PMCID: PMC5178374

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.PMID 28053790Read ↗

A Novel Nonsense Mutation ofPOU4F3Gene Causes Autosomal Dominant Hearing LossSemantic proximity Read ↗

De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing LossSemantic proximity Read ↗

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing lossSemantic proximity Read ↗

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.Semantic proximity Read ↗

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.Semantic proximity Read ↗

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).Semantic proximity Read ↗

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Semantic proximity Read ↗

Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.Semantic proximity Read ↗

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.Semantic proximity Read ↗

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populationsSemantic proximity Read ↗

Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.Semantic proximity Read ↗

Clinical and genetic study of twelve Chinese Han families with non-syndromic deafnessSemantic proximity Read ↗

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