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PCDH15 is a member of the cadherin superfamily. Additionally we are shipping PCDH15 Kits (15) and PCDH15 Antibodies (13) and many more products for this protein.
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Absence of Pcdh15-CD2 isoform results in the loss of tip-links in mature auditory hair cells.
Pcdh15 as a determinant of SERT (show SLC6A4 Proteins) protein expression and 5-HT (show DDC Proteins) homeostasis.
the involvement of the gene Pcdh15 in auditory function
These results offer new insights into the interaction between PCDH15 and CDH23 and help explain the etiology of human deafness linked to mutations in the tip-link interface.
crystallography, molecular dynamics simulations and binding experiments to characterize the protocadherin 15-cadherin 23 bond
Pcdh15 variants colocalize with rab5 (show RAB5A Proteins) and traffic apically to the hair cell bundle.
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
results therefore provide genetic evidence consistent with PCDH15 and CDH23 being part of the tip-link complex and necessary for normal mechanotransduction
Findings reveal an essential role for PCDH15-CD2 (show CCND2 Proteins) in the formation of kinociliary links and hair bundle polarization, and show that several PCDH15 isoforms can function redundantly at tip links.
we examine the effects of null mutation of the Ush1c (show USH1C Proteins) gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear.
no statistically significant association between any rare, heterozygous PCDH15 point variants and schizophrenia or autism spectrum disorders was found
PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1
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.
PCDH15 or DFNB59 (show DFNB59 Proteins) variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 (show DFNB59 Proteins) variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.
PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly
Genetic variations of PCDH15 and their interactions with occupational noise exposure are associated with genetic susceptibility t onoise-induced hearing loss.
Patients lacking PCDH15-CD2 isoform are profoundly deaf.
Single nucleotide polymorphisms spanning a 9-kb region centered on exon 11 of the protocadherin 15 ( PCDH15 ) gene were found to be associated with irritable bowel syndrome in Australian, United States, and Swedish populations.
Alberta Hutterites with Usher syndrome type I do not carry the exon 10 mutation in the PCDH15 gene.
Seven different point mutations, five novel, were detected in PCDH15 gene in Spanish patients with Usher syndrome type I.
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.
, Ames waltzer
, protocadherin 15 CD2
, protocadherin 15 CD3 isoform
, cadherin-related family member 15
, protocadherin 15