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

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.

Clinical genetics - 1 Nov 2012

Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Kataoka Y, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji H, Kaga K

Abstract excerpt

Auditory neuropathy is a hearing disorder characterized by normal outer hair cell function and abnormal neural conduction of the auditory pathway. Aetiology and clinical presentation of congenital or early-onset auditory neuropathy are heterogeneous, and their correlations are not well understood...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 26
Share to Connexins
Share to Founder Effect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Homozygote

Share to Nerve Tissue Proteins

Share to Prevalence

Share to Protein Conformation

Source

Identifiers

PMID: 22575033
DOI: 10.1111/j.1399-0004.2012.01897.x

Genes

OTOF
GJB2
PJVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22575033-2026-09-04.2. 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

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.PMID 22575033Read ↗

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.Semantic proximity Read ↗

Detailed Clinical Features and Genotype-Phenotype Correlation in an OTOF-Related Hearing Loss Cohort in JapanSemantic proximity Read ↗

Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.Semantic proximity Read ↗

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.Semantic proximity Read ↗

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.Semantic proximity Read ↗

Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.Semantic proximity Read ↗

Hearing loss secondary to variants in the OTOF gene.Semantic proximity Read ↗

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.Semantic proximity Read ↗

Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.Semantic proximity Read ↗

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.Semantic proximity Read ↗

Auditory Neuropathy Spectrum Disorder due to Two Novel Compound Heterozygous OTOF Mutations in Two Chinese Families.Semantic proximity Read ↗

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patientsSemantic proximity Read ↗

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