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 analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.

Journal of human genetics - 1 Dec 2010

Nakanishi Hiroshi, Ohtsubo Masafumi, Iwasaki Satoshi, Hotta Yoshihiro, Takizawa Yoshinori, Hosono Katsuhiro, Mizuta Kunihiro, Mineta Hiroyuki, Minoshima Shinsei

Abstract excerpt

Usher syndrome (USH) is an autosomal recessive disorder characterized by retinitis pigmentosa and hearing loss. USH type 1 (USH1), the second common type of USH, is frequently caused by MYO7A and CDH23 mutations, accounting for 70-80% of the cases among various ethnicities, including Caucasians,...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, CD
Share to Asian People
Share to Cadherins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Myosin VIIa

Share to Myosins

Share to Usher Syndromes

Source

Identifiers

PMID: 20844544
DOI: 10.1038/jhg.2010.115

Genes

CDH23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20844544-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.PMID 20844544Read ↗

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.Semantic proximity Read ↗

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.Semantic proximity Read ↗

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.Semantic proximity Read ↗

A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.Semantic proximity Read ↗

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.Semantic proximity Read ↗

Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.Semantic proximity Read ↗

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.Semantic proximity Read ↗

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.Semantic proximity Read ↗

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.Semantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.Semantic proximity Read ↗

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.Semantic proximity Read ↗

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