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    Pcdh15 protocadherin 15 [ Mus musculus (house mouse) ]

    Gene ID: 11994, updated on 8-Aug-2016

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Absence of Pcdh15-CD2 isoform results in the loss of tip-links in mature auditory hair cells.

    The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
    Pepermans E, Michel V, Goodyear R, Bonnet C, Abdi S, Dupont T, Gherbi S, Holder M, Makrelouf M, Hardelin JP, Marlin S, Zenati A, Richardson G, Avan P, Bahloul A, Petit C., Free PMC Article

    02/14/2015
    Pcdh15 as a determinant of SERT protein expression and 5-HT homeostasis.

    Quantitative trait loci mapping and gene network analysis implicate protocadherin-15 as a determinant of brain serotonin transporter expression.
    Ye R, Carneiro AM, Han Q, Airey D, Sanders-Bush E, Zhang B, Lu L, Williams R, Blakely RD., Free PMC Article

    11/8/2014
    the involvement of the gene Pcdh15 in auditory function

    The circling mutant Pcdh15roda is a new mouse model for hearing loss.
    Torres AA, Rzadzinska AK, Ribeiro AF, Silva DA, Guénet JL, Massironi SM, Godard AL.

    02/22/2014
    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.

    Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells.
    Geng R, Sotomayor M, Kinder KJ, Gopal SR, Gerka-Stuyt J, Chen DH, Hardisty-Hughes RE, Ball G, Parker A, Gaudet R, Furness D, Brown SD, Corey DP, Alagramam KN., Free PMC Article

    04/27/2013
    crystallography, molecular dynamics simulations and binding experiments to characterize the protocadherin 15-cadherin 23 bond

    Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
    Sotomayor M, Weihofen WA, Gaudet R, Corey DP., Free PMC Article

    02/9/2013
    Pcdh15 variants colocalize with rab5 and traffic apically to the hair cell bundle.

    Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells.
    Zallocchi M, Delimont D, Meehan DT, Cosgrove D., Free PMC Article

    01/26/2013
    A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.

    Role for a novel Usher protein complex in hair cell synaptic maturation.
    Zallocchi M, Meehan DT, Delimont D, Rutledge J, Gratton MA, Flannery J, Cosgrove D., Free PMC Article

    06/30/2012
    results therefore provide genetic evidence consistent with PCDH15 and CDH23 being part of the tip-link complex and necessary for normal mechanotransduction

    Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells.
    Alagramam KN, Goodyear RJ, Geng R, Furness DN, van Aken AF, Marcotti W, Kros CJ, Richardson GP., Free PMC Article

    09/3/2011
    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.

    Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain.
    Webb SW, Grillet N, Andrade LR, Xiong W, Swarthout L, Della Santina CC, Kachar B, Müller U., Free PMC Article

    05/28/2011
    we examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear.

    Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice.
    Yan D, Kamiya K, Ouyang XM, Liu XZ., Free PMC Article

    03/19/2011
    The development and regeneration of sensory transduction in auditory hair cells requires the functional interaction of protocadherin-15 with cadherin-23.

    Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15.
    Lelli A, Kazmierczak P, Kawashima Y, Müller U, Holt JR., Free PMC Article

    09/20/2010
    Data show a significant difference in plasma TG and TC concentrations for the Pcdh15(av-3J) carriers when compared with the wild type.

    A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
    Huertas-Vazquez A, Plaisier CL, Geng R, Haas BE, Lee J, Greevenbroek MM, van der Kallen C, de Bruin TW, Taskinen MR, Alagramam KN, Pajukanta P., Free PMC Article

    02/22/2010
    Allelic with Ames waltzer. Insertion of a cytosine residue at nucleotide position c2099 (2099insC), which results in a frame-shift and premature stop codon.

    A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15.
    Hampton LL, Wright CG, Alagramam KN, Battey JF, Noben-Trauth K.

    01/21/2010
    CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle.

    Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
    Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ., Free PMC Article

    01/21/2010
    Mutation in Pcdh15 affects the initial formation of stereocilia bundles with associated changes in the actin meshwork within the cuticular plate. The positive correlation of severity of effects with extent of mutation can be seen well into adulthood.

    Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development.
    Pawlowski KS, Kikkawa YS, Wright CG, Alagramam KN., Free PMC Article

    01/21/2010
    Protocadherin-15 is associated with tip-link complex of inner hair cells and may be an integral component of this structure and/or required for its formation.

    The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
    Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, Legan PK, Behra M, Burgess SM, Lilley KS, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov GI, Belyantseva IA, Richardson GP, Friedman TB.

    01/21/2010
    Base substitution (A--> G) in consensus splice donor sequence linked to exon 14 resulting in skipping of exon 14 and splicing of exon 13-15, introducting a stop codon in coding sequence of exon 15. Pcdh15 has important role in hair-bundle morphogenesis.

    Characterization of a new allele of Ames waltzer generated by ENU mutagenesis.
    Washington JL 3rd, Pitts D, Wright CG, Erway LC, Davis RR, Alagramam K.

    01/21/2010
    Protocadherin 15 and myosin 7a cooperate to regulate the development and function of the mechanically sensitive hair bundle.

    Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells.
    Senften M, Schwander M, Kazmierczak P, Lillo C, Shin JB, Hasson T, Géléoc GS, Gillespie PG, Williams D, Holt JR, Müller U., Free PMC Article

    01/21/2010
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