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These results clearly show that the development of early-onset progressive hearing loss (ePHL) requires at least two mutant alleles of the Ush1g and Cdh23 genes. Our results also suggest that because the SANS and CDH23 proteins form a complex in the stereocilia, the interaction between these proteins may play key roles in the maintenance of stereocilia and the prevention of ePHL.
Our results showed that systemic treatment with TUDCA significantly alleviated hearing loss and suppressed hair cell death in erl(Cdh23) mice. Additionally.
This study further resolves the interaction between Atp2b2 and Cdh23 in a gene dosage and frequency-dependent manner, and finds that low auditory frequencies are significantly affected by the interaction.
crystallography, molecular dynamics simulations and binding experiments to characterize the protocadherin 15-cadherin 23 bond
A point mutation in the Cdh23 gene (208T>C) of C57BL/6J mice results in hearing loss around 1 month after birth.
the Cdh23(nmf308/nmf308) mice with progressive hair cell loss had specific morphological changes and suffered a base to apex gradient and age-related hearing loss (AHL), and that mutations in cdh23 were linked to AHL
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
Although Cdh23(ahl) homozygosity is necessary, it is not by itself sufficient to account for the accelerated hearing loss of C57BL/6J mice.
ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice
results therefore provide genetic evidence consistent with PCDH15 and CDH23 being part of the tip-link complex and necessary for normal mechanotransduction
We have identified CDH23 mutations as a genetic risk factor for both familial and sporadic pituitary adenoma.
an important contribution of CDH23 mutations to poslingual Sensorineural Hearing Loss
A new diagnosis of sector retinitis pigmentosa was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation.
Four (3.1 %) of 128 children carried two CDH23 mutant alleles, and SLC26A4 (show SLC26A4 Proteins) and GJB2 (show GJB2 Proteins) accounted for 18.0 and 17.2 %, respectively and showed profound nonsyndromic sensorineural hearing loss with minimal residual hearing.
The results revealed that CDH23 mutations are highly prevalent in patients with congenital high-frequency sporadic or recessively inherited hearing loss
Description of the spectrum of mutations in CDH23 in 374 families with autosomal recessive, non-syndromic hearing loss from India.
The results of this study confirm that CDH23 genetic variant may modify the susceptibility to noise-induced hearing loss development in humans
mutations in the CDH23 gene are one of the most important causes of non-syndromic hearing loss in East Asians.
Hearing loss was found to co-segregate with locus-specific STR markers for CDH23 in 1 Pakistani family.
mutations of the CDH23 gene are an important cause of non-syndromic hearing loss.
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Alternative splice variants encoding different isoforms have been described.
age related hearing loss 1
, modifier of deaf waddler
, cadherin-like 23
, cadherin-related family member 23
, cadherin 23 (otocadherin)
, cadherin related 23