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Cadherin 23

CDH23, cadherin 23, USH1D, DFNB12
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. [provided by RefSeq, Jan 2010] (from NCBI)
Top mentioned proteins: HAIR, PCDH15, myosin VIIa, Protocadherin, CAN
Papers on CDH23
Genome-Wide Analysis of DNA Methylation and Cigarette Smoking in Chinese.
Wu et al., Wuhan, China. In Environ Health Perspect, Feb 2016
Of these smoking-related CpGs, methylation levels at 80 CpGs showed significant correlations with the expression of corresponding genes (including RUNX3, IL6R, PTAFR, ANKRD11, CEP135 and CDH23), and methylation at 15 CpGs were significantly associated with urinary 2-hydroxynaphthalene, the most representative internal monohydroxy-PAHs biomarker for smoking.
Tauroursodeoxycholic Acid Prevents Hearing Loss and Hair Cell Death in Cdh23(erl/erl) Mice.
Zheng et al., Xi'an, China. In Neuroscience, Jan 2016
The recently identified novel mutation of the Cdh23 gene, Cdh23(erl/erl), was proven to be a mouse model of human autosomal recessive nonsyndromic deafness (DFNB12).
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Najmabadi et al., Iowa City, United States. In J Med Genet, Dec 2015
RESULTS: We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15.
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
Sartorato et al., Campinas, Brazil. In Bmc Med Genet, 2014
Mutations in GJB2 gene were the most prevalent, followed by other mutations in in SLC26A4, CDH23, MT-RNR1, MYO15A, and OTOF genes.
The Genetics of Deafness in Domestic Animals.
Strain, Baton Rouge, United States. In Front Vet Sci, 2014
Across species, the genes identified with deafness or white pigmentation patterns include MITF, PMEL, KIT, EDNRB, CDH23, TYR, and TRPM1 in dog, cat, horse, cow, pig, sheep, ferret, mink, camelid, and rabbit.
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Ozkinay et al., İzmir, Turkey. In Plos One, 2014
Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23).
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Choi et al., Seoul, South Korea. In Korean J Audiol, 2014
The most frequent causative gene of Korean sporadic severe to profound hearing loss families was SLC26A4 followed by GJB2, CHD7, and CDH23.
Usher protein functions in hair cells and photoreceptors.
Zallocchi et al., Omaha, United States. In Int J Biochem Cell Biol, 2014
In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the taller stereocilia's actin cytoskeleton core to the shorter adjacent stereocilia and the elusive mechanotransduction channels, explaining the deafness phenotype when these molecular interactions are perturbed.
Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
Corey et al., Boston, United States. In Nature, 2013
Mechanical force from sound waves or head movements is conveyed to hair-cell transduction channels by tip links, fine filaments formed by two atypical cadherins known as protocadherin 15 and cadherin 23 (refs 4, 5).
Association of cadherin23 single nucleotide polymorphism with age-related hearing impairment in Han Chinese.
Liu et al., Taipei, Taiwan. In Otolaryngol Head Neck Surg, 2012
Despite that the Ahl allele of Cdh23 had been implicated with ARHI in mice, we found no positive association of the CDH23 tag SNP in intron 7 with ARHI in Han Chinese.
A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice.
Zheng et al., Cleveland, United States. In Gene, 2012
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
Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
Carafoli et al., Padova, Italy. In Int J Biochem Cell Biol, 2012
They are organized in bundles by tip-link filaments composed of cadherin 23 and protocadherin 15.
Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice.
Johnson et al., Bar Harbor, United States. In Hear Res, 2012
Although Cdh23(ahl) homozygosity is necessary, it is not by itself sufficient to account for the accelerated hearing loss of C57BL/6J mice.
Role for a novel Usher protein complex in hair cell synaptic maturation.
Cosgrove et al., Omaha, United States. In Plos One, 2011
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
Cadherin-23 mediates heterotypic cell-cell adhesion between breast cancer epithelial cells and fibroblasts.
Ligon et al., Troy, United States. In Plos One, 2011
cadherin-23 is up-regulated in breast cancer tissue versus normal tissue and we propose that cadherin-23-mediated heterotypic adhesion between invading tumor cells and stromal fibroblasts may play a role in the metastatic cascade.
Autosomal recessive nonsyndromic deafness genes: a review.
Tekin et al., Ankara, Turkey. In Front Biosci, 2011
Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3.
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.
Kachar et al., Los Angeles, United States. In Nature, 2007
Biochemical experiments show that CDH23 homodimers interact in trans with PCDH15 homodimers to form a filament with structural similarity to tip links
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
Griffith et al., Rockville, United States. In N Engl J Med, 2005
Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings.
Cadherin 23 is a component of the tip link in hair-cell stereocilia.
Müller et al., Los Angeles, United States. In Nature, 2004
CDH23 forms a complex with myosin-1c, the only known component of the mechanotransduction apparatus, suggesting that CDH23 and myosin-1c cooperate to regulate the activity of mechanically gated ion channels in hair cells
Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells.
Tübingen 2000 Screen Consortium et al., Tübingen, Germany. In Nature, 2004
Here we show that the defects in sputnik mutants are caused by mutations in cadherin 23 (cdh23).
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