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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 14 Jul 2015.

Protocadherin-related 15

PCDH15, protocadherin 15, USH1F, Ames waltzer
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] (from NCBI)
Top mentioned proteins: Protocadherin, HAIR, CDH23, CAN, myosin VIIa
Papers on PCDH15
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
New
Wu et al., Taipei, Taiwan. In Medicine (baltimore), 31 Jul 2015
We identified genetic variants which are associated with poor CI outcomes in 7 (58%) of the 12 cases; 4 cases had bi-allelic PCDH15 pathogenic mutations and 3 cases were homozygous for the DFNB59 p.G292R variant.
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
New
Jiang et al., Guangzhou, China. In Int J Pediatr Otorhinolaryngol, 31 Jul 2015
CONCLUSION: The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous reported observations that PCDH15 does not only causes Usher syndrome type 1F, but also DFNB23.
Partial USH2A deletions contribute to Usher syndrome in Denmark.
New
Møller et al., Copenhagen, Denmark. In Eur J Hum Genet, Apr 2015
Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy.
Cone dystrophy in patient with homozygous RP1L1 mutation.
New
Takahashi et al., Chiba, Japan. In Biomed Res Int, Dec 2014
NGS identified missense changes in the heterozygous state of the PCDH15, RPGRIP1, and GPR98 genes.
Targeted next-generation sequencing in uyghur families with non-syndromic sensorineural hearing loss.
New
Wu et al., Shanghai, China. In Plos One, Dec 2014
Novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, the homozygous p.V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A.
Usher protein functions in hair cells and photoreceptors.
Review
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.
Contribution of genetic factors to noise-induced hearing loss: a human studies review.
Review
Pawelczyk et al., Łódź, Poland. In Mutat Res, 2013
So far, the most promising results were obtained for two genes encoding potassium ion channels (KCNQ4 and KCNE1), catalase (CAT), protocadherin 15 (PCDH15), myosin 14 (MYH14) and heat shock protein (HSP70), because they were replicated in two (Polish and Swedish) or three (Polish, Swedish and Chinese) populations, and were sufficient in size to yield high power for the detection of a causative allele.
TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells.
Impact
Müller et al., Los Angeles, United States. In Cell, 2013
TMHS binds to the tip-link component PCDH15 and regulates tip-link assembly, a process that is disrupted by deafness-causing Tmhs mutations.
Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
Impact
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).
Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
Review
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.
Role for a novel Usher protein complex in hair cell synaptic maturation.
GeneRIF
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.
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
GeneRIF
MacDonald et al., Beijing, China. In Mol Vis, 2011
Alberta Hutterites with Usher syndrome type I do not carry the exon 10 mutation in the PCDH15 gene.
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
GeneRIF
Kimberling et al., Valencia, Spain. In Mol Vis, 2011
Seven different point mutations, five novel, were detected in PCDH15 gene in Spanish patients with Usher syndrome type I.
The plasma membrane calcium pump in the hearing process: physiology and pathology.
Review
Carafoli, Padova, Italy. In Sci China Life Sci, 2011
The tip links that organize the bundle are formed by the Ca(2+) binding protein cadherin 23 and by protocadherin 15: Disturbances of the Ca(2+) binding by cadherin 23 and/or of the ability of the PMCA2 variant of the stereocilia to export Ca(2+) to the endolymph generate hearing loss phenotypes.
Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain.
GeneRIF
Müller et al., Los Angeles, United States. In Development, 2011
Findings reveal an essential role for PCDH15-CD2 in the formation of kinociliary links and hair bundle polarization, and show that several PCDH15 isoforms can function redundantly at tip links.
Non-clustered protocadherin.
Review
Kim et al., Seoul, South Korea. In Cell Adh Migr, 2011
The phylogenetic analysis with full sequences of non-clustered PCDHs enabled them to be further classified into three subgroups: δ1 (PCDH1, PCDH7, PCDH9, PCDH11 and PCDH20), δ2 (PCDH8, PCDH10, PCDH12, PCDH17, PCDH18 and PCDH19) and ε (PCDH15, PCDH16, PCDH21 and MUCDHL).
Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells.
GeneRIF
Richardson et al., Cleveland, United States. In Plos One, 2010
results therefore provide genetic evidence consistent with PCDH15 and CDH23 being part of the tip-link complex and necessary for normal mechanotransduction
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.
Impact
Kachar et al., Los Angeles, United States. In Nature, 2007
Immunohistochemical studies using rodent hair cells show that cadherin 23 (CDH23) and protocadherin 15 (PCDH15) localize to the upper and lower part of tip links, respectively.
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
Impact
Woychik et al., Cleveland, United States. In Nat Genet, 2001
Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia.
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Impact
Kubisch et al., Hamburg, Germany. In Nat Genet, 2001
So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C.
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