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anti-Human PCDH15 Antibodies:
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Novel 4658delT PCDH15 mutation was identified in a family with nonsyndromic hearing loss.
rs2045145 associated with more European female facial profile
We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease.
PCDH15 polymorphism is associated with extraversion.
Results present structures of a protocadherin-15 fragment featuring a non-canonical linker region that exhibits increased flexibility without compromising mechanical strength.
This study confirms that genetic variations in PCDH15 modify the susceptibility to noise-induced hearing loss development in humans.
Results uncovered a novel interaction between MYO3A and PCDH15 shedding new light on the function of myosin IIIA at stereocilia tips.
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 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 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.
a combination of PCR-based mutation screening, together with deletion and duplication analysis, is mandatory for the accurate screening of the PCDH15 gene in Usher patients.
Study suggests that PCDH15 is associated with lipid abnormalities.
A founder mutation, R245X, of the PCDH15 gene among Ashkenazi Jews is a cause of Type 1 Usher Syndrome.
a modified ciliary transport pathway used for Pcdh15 transport into the cilium of the inner ear hair cell and coordinated by FGFR1 activity.
Many GABAergic interneurons, from their generation in the medial ganglionic eminence up to their settlement in the auditory cortex, express two cadherin-related (cdhr) proteins, cdhr23 and cdhr15, that form the hair bundle tip links gating the mechanoelectrical transduction channels.
results demonstrate that alternative heterophilic tip-link structures form stable protein-protein interactions in vitro and suggest that homophilic PCDH15-PCDH15 tip links form through the interaction of additional EC repeats
interactions of wild type (WT) and mutant variants of N-terminal fragments (EC1+2) of cadherin-23 and protocadherin-15, two proteins essential for inner-ear mechanotransduction, are reported.
data show that LHFPL5 is already present in the MET apparatus at P0 but requires PCDH15 at P3 to remain there. Shaft/ankle link localisation suggests it interacts with link proteins other than PCDH15
Through an interaction with PIST, PCDH15 is retained in the trans-Golgi network and its expression is reduced in the plasma membrane.
Absence of Pcdh15-CD2 isoform results in the loss of tip-links in mature auditory hair cells.
Pcdh15 as a determinant of SERT protein expression and 5-HT 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 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 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 gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear.
The development and regeneration of sensory transduction in auditory hair cells requires the functional interaction of protocadherin-15 with cadherin-23.
Data show a significant difference in plasma TG and TC concentrations for the Pcdh15(av-3J) carriers when compared with the wild type.
Allelic with Ames waltzer. Insertion of a cytosine residue at nucleotide position c2099 (2099insC), which results in a frame-shift and premature stop codon.
CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle.
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.
cadherin-related family member 15
, Ames waltzer
, protocadherin 15 CD2
, protocadherin 15 CD3 isoform
, protocadherin 15