| 1 | LHFPL5, PCDH15
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| Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15.
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| Mahendrasingam S, Fettiplace R, Alagramam KN, Cross E, Furness DN.
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| PLoS One 12(10):e0185285. doi: 10.1371/journal.pone.0185285. eCollection 2017.
2017
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| 2 | PCDH15
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| The Effect of PCDH15 Gene Variations on the Risk of Noise-induced Hearing Loss in a Chinese Population.
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| Xu XR, Wang JJ, Yang QY, Jiao J, He LH, Yu SF, Gu GZ, Chen GS, Zhou WH, Wu H, Li YH, Zhang HL, Zhang ZR, Jin XN.
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| Biomed Environ Sci 30(2):143-146. doi: 10.3967/bes2017.019.
2017
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| 3 | PCDH15
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| A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15.
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| Powers RE, Gaudet R, Sotomayor M.
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| Structure 25(3):482-495. doi: 10.1016/j.str.2017.01.014. Epub 2017 Feb 23.
2017
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| 4 | GOPC, PCDH15
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| Plasma Membrane Targeting of Protocadherin 15 Is Regulated by the Golgi-Associated Chaperone Protein PIST.
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| Nie H, Liu Y, Yin X, Cao H, Wang Y, Xiong W, Lin Y, Xu Z.
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| Neural Plast 2016:8580675. Epub 2016 Oct 27.
2016
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| 5 | MYO3A, PCDH15
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| MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
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| Grati M, Yan D, Raval MH, Walsh T, Ma Q, Chakchouk I, Kannan-Sundhari A, Mittal R, Masmoudi S, Blanton SH, Tekin M, King MC, Yengo CM, Liu XZ.
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| Hum Mutat 37(5):481-7. doi: 10.1002/humu.22961. Epub 2016 Feb 16.
2016
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| 6 | DFNB23, PCDH15
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| Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
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| Zhan Y, Liu M, Chen D, Chen K, Jiang H.
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| Int J Pediatr Otorhinolaryngol 79(7):983-6. doi: 10.1016/j.ijporl.2015.04.002. Epub 2015 Apr 11.
2015
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| 7 | LHFPL5, PCDH15, TMC1
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| Subunit determination of the conductance of hair-cell mechanotransducer channels.
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| Beurg M, Xiong W, Zhao B, Müller U, Fettiplace R.
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| Proc Natl Acad Sci U S A 112(5):1589-94. doi: 10.1073/pnas.1420906112. Epub 2014 Dec 30.
2015
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| 8 | CDH23, PCDH15
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| Usher protein functions in hair cells and photoreceptors.
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| Cosgrove D, Zallocchi M.
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| Int J Biochem Cell Biol 46:80-9. doi: 10.1016/j.biocel.2013.11.001. Epub 2013 Nov 12. Review.
2014
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| 9 | PCDH15, TMC1, TMC2
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| Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2.
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| Maeda R, Kindt KS, Mo W, Morgan CP, Erickson T, Zhao H, Clemens-Grisham R, Barr-Gillespie PG, Nicolson T.
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| Proc Natl Acad Sci U S A 111(35):12907-12. doi: 10.1073/pnas.1402152111. Epub 2014 Aug 11.
2014
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| 10 | PCDH15
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| The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
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| 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.
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| EMBO Mol Med 6(7):984-92. doi: 10.15252/emmm.201403976.
2014
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| 11 | LHFPL5, PCDH15, TMIE
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| TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells.
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| Zhao B, Wu Z, Grillet N, Yan L, Xiong W, Harkins-Perry S, Müller U.
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| Neuron 84(5):954-67. doi: 10.1016/j.neuron.2014.10.041. Epub 2014 Nov 20.
2014
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| 12 | PCDH15
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| 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.
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| 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.
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| J Neurosci 33(10):4395-404. doi: 10.1523/JNEUROSCI.4514-12.2013.
2013
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| 13 | ADGRV1, CDH23, CLRN1, PCDH15
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| Role for a novel Usher protein complex in hair cell synaptic maturation.
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| Zallocchi M, Meehan DT, Delimont D, Rutledge J, Gratton MA, Flannery J, Cosgrove D.
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| PLoS One 7(2):e30573. doi: 10.1371/journal.pone.0030573. Epub 2012 Feb 17.
2012
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| 14 | CDH23, PCDH15
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| Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
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| Sotomayor M, Weihofen WA, Gaudet R, Corey DP.
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| Nature 492(7427):128-32. doi: 10.1038/nature11590. Epub 2012 Nov 7.
2012
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| 15 | CDH23, MYO7A, PCDH15, USH1C, USH1G
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| Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
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| Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, Pepermans E, Estivalet A, Carette D, Aghaie A, Ebermann I, Lelli A, Iribarne M, Hardelin JP, Weil D, Sahel JA, El-Amraoui A, Petit C.
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| J Cell Biol 199(2):381-99. doi: 10.1083/jcb.201202012. Epub 2012 Oct 8.
2012
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| 16 | HCN1, HCN2, PCDH15
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| HCN1 and HCN2 proteins are expressed in cochlear hair cells: HCN1 can form a ternary complex with protocadherin 15 CD3 and F-actin-binding filamin A or can interact with HCN2.
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| Ramakrishnan NA, Drescher MJ, Khan KM, Hatfield JS, Drescher DG.
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| J Biol Chem 287(45):37628-46. doi: 10.1074/jbc.M112.375832. Epub 2012 Sep 4.
2012
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| 17 | LHFPL5, PCDH15
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| TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells.
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| Xiong W, Grillet N, Elledge HM, Wagner TF, Zhao B, Johnson KR, Kazmierczak P, Müller U.
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| Cell 151(6):1283-95. doi: 10.1016/j.cell.2012.10.041.
2012
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| 18 | DFNB23, PCDH15, USH1F
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| Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain.
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| Webb SW, Grillet N, Andrade LR, Xiong W, Swarthout L, Della Santina CC, Kachar B, Müller U.
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| Development 138(8):1607-17.
2011
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| 19 | CDH23, DFNB10, DFNB12, DFNB2, DFNB23, DFNB3, DFNB6, DFNB63, DFNB7, DFNB8, DFNB9, DFNB91, LRTOMT, MYO15A, MYO7A, OTOF, PCDH15, SERPINB6, TMC1, TMIE, TMPRSS3
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| Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
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| Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
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| Genet Test Mol Biomarkers 15(1-2):29-33. Epub 2010 Nov 30. Erratum in: Genet Test Mol Biomarkers. 2011 Sep;15(9):663.
2011
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| 20 | PCDH15
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| A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
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| 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.
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| Hum Genet 127(1):83-9. Epub 2009 Oct 9.PMID: 19816713 2010
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| 21 | ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH1G, USH2A, USH2C, USH2D, USH3A, WHRN
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| Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells.
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| Zallocchi M, Sisson JH, Cosgrove D.
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| Biochemistry 49(6):1236-47.PMID: 20058854 2010
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| 22 | CDH23, PCDH15
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| Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members.
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| Elledge HM, Kazmierczak P, Clark P, Joseph JS, Kolatkar A, Kuhn P, Müller U.
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| Proc Natl Acad Sci U S A 107(23):10708-12. Epub 2010 May 24.PMID: 20498078 2010
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| 23 | PCDH15
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| Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.
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| Aller E, Jaijo T, García-García G, Aparisi MJ, Blesa D, Díaz-Llopis M, Ayuso C, Millán JM.
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| Invest Ophthalmol Vis Sci. 51(11):5480-5. 2010
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| 24 | DFNB23, PCDH15, USH1F
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| Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
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| Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland L, Li XC, Lee M, King MC, Young TL.
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| Eur J Hum Genet 17(5):554-64. Epub 2008 Dec 24.
2009
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| 25 | ADGRV1, MYO7A, PCDH15, USH1B, USH1F, USH2A, USH2C
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| Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
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| Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS.
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| Hum Mol Genet 17(15):2405-15. Epub 2008 May 7. 2008
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| 26 | PCDH15, USH1F
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| Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
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| Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB.
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| Hum Genet 124(3):215-23. Epub 2008 Aug 22.
2008
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| 27 | CDH23, PCDH15
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| Long-term depression of cortico-striatal synaptic transmission by DHPG depends on endocannabinoid release and nitric oxide synthesis.
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| Sergeeva OA, Doreulee N, Chepkova AN, Kazmierczak T, Haas HL.
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| Eur J Neurosci 26(7):1889-94. Epub 2007 Sep 14. 2007
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| 28 | PCDH15, USH1C, USH1F, DFNB23
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| Promoter, alternative splice forms, and genomic structure of protocadherin 15.
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| Alagramam KN, Miller ND, Adappa ND, Pitts DR, Heaphy JC, Yuan H, Smith RJ.
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| Genomics 90(4):482-92. Epub 2007 Aug 15. 2007
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| 29 | PCDH15, USH1F
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| In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
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| Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben-Yosef T.
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| Hum Genet 122(3-4):373-81. Epub 2007 Jul 25. 2007
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| 30 | PCDH15
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| Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.
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| Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B.
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| Nature. 449(7158):87-91. 2007
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| 31 | USH1D, CDH23, USH1F, PCDH15
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| Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
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| Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration.
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| J Med Genet 43(9):763-8. Epub 2006 May 5. 2006
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| 32 | ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1B, USH1C, USH1D, USH1F, USH2B, USH2C
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| First evidence for a molecular link between Usher 1 and Usher 2 syndromes.
|
| Stein R.
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| Clin Genet 69(6):483-485. No abstract available. 2006
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| 33 | PCDH15
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| The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
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| 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.
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| J Neurosci 26(26):7022-34. 2006
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| 34 | PCDH15
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| Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas.
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| Rouget-Quermalet V, Giustiniani J, Marie-Cardine A, Beaud G, Besnard F, Loyaux D, Ferrara P, Leroy K, Shimizu N, Gaulard P, Bensussan A, Schmitt C.
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| Oncogene 25(19):2807-11. 2006
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| 35 | PCDH15, USH1F, CDH23, USH1D, USH1C
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| Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
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| Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, Johnson KR, Liu XZ.
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| Hum Mol Genet 14(1):103-11. Epub 2004 Nov 10. 2005
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| 36 | USH1C, USH1G, MYO7A, PCDH15, CDH23
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| Interactions in the network of Usher syndrome type 1 proteins.
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| Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C.
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| Hum Mol Genet 14(3):347-56. Epub 2004 Dec 08. 2005
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| 37 | USH1C, USH1F, PCDH15
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| Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
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| Reiners J, Marker T, Jurgens K, Reidel B, Wolfrum U.
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| Mol Vis 11:347-55. 2005
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| 38 | DFNB23, PCDH15, USH1F
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| PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
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| Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER.
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| Hum Mol Genet 12(24):3215-23. Epub 2003 Oct 21. 2003
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| 39 | PCDH15
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| The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
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| Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP.
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| Nat Genet 27(1):99-102. 2001
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| 40 | PCDH15, USH1F
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| Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
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| Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER.
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| Am J Hum Genet 69(1):25-34. 2001
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| 41 | PCDH15, USH1F
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| Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
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| Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hagemen GS, Woychik RP, Smith RJ.
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| Hum Mol Genet 10(16):1709-18. 2001
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| 42 | CELSR1, CELSR2, CELSR3, PCDH10, PCDH11X, PCDH11Y, PCDH12, PCDH15, DCHS1, PCDH17, PCDH18, PCDH20, PCDH8, PCDH9, PCDHA@, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHACT, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB19P, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHAC1, PCDHAC2, PCDHGCT, SLC25A2
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| Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes.
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| Wu Q, Maniatis T.
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| Proc Natl Acad Sci U S A 97(7):3124-9. 2000
|