PCDH15

Summary

Gene Symbol: PCDH15
Description: protocadherin related 15
Alias: CDHR15, DFNB23, USH1F, protocadherin-15, cadherin-related family member 15
Species: human
Products:     PCDH15

Top Publications

  1. Cremers F, Kimberling W, Külm M, de Brouwer A, Van Wijk E, te Brinke H, et al. Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007;44:153-60 pubmed
    ..The chip also identified two novel sequence variants, c.400C>T (p.R134X) in PCDH15 and c.1606T>C (p.C536S) in USH2A...
  2. Doucette L, Merner N, Cooke S, Ives E, Galutira D, Walsh V, et al. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet. 2009;17:554-64 pubmed publisher
    ..0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause ..
  3. Ahmed Z, Riazuddin S, Ahmad J, Bernstein S, Guo Y, Sabar M, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003;12:3215-23 pubmed
    Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F)...
  4. Rouget Quermalet V, Giustiniani J, Marie Cardine A, Beaud G, Besnard F, Loyaux D, et al. Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. Oncogene. 2006;25:2807-11 pubmed
    ..Here we report the identification of a new secreted isoform of protocadherin 15, PCDH15C, which represents a potential associated protein for p85...
  5. Ahmed Z, Goodyear R, Riazuddin S, Lagziel A, Legan P, Behra M, et al. The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci. 2006;26:7022-34 pubmed
    ..an avian ortholog of human protocadherin-15, a product of the gene for the deaf/blindness Usher syndrome type 1F/DFNB23 locus...
  6. Aller E, Jaijo T, García García G, Aparisi M, Blesa D, Diaz Llopis M, et al. Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. Invest Ophthalmol Vis Sci. 2010;51:5480-5 pubmed publisher
    PCDH15, encoding protocadherin 15, is mutated in Usher syndrome type 1F (USH1F) patients. Not only point mutations, but also large deletions have been detected within this gene...
  7. Millan J, Aller E, Jaijo T, Blanco Kelly F, Gimenez Pardo A, Ayuso C. An update on the genetics of usher syndrome. J Ophthalmol. 2011;2011:417217 pubmed publisher
    ..To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G)...
  8. Jaworek T, Bhatti R, Latief N, Khan S, Riazuddin S, Ahmed Z. USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. J Hum Genet. 2012;57:633-7 pubmed publisher
    ..21-q21.1-linked STR markers. Of the 85 genes within the linkage interval, PCDH15, GJD4, FZD4, RET and LRRC18 were sequenced in both families, but no potential pathogenic mutation was identified...
  9. Ahmed Z, Bernstein S, Ahmed Z, Khan S, Griffith A, Morell R, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34 pubmed
    ..Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F...

More Information

Publications106 found, 100 shown here

  1. Brownstein Z, Ben Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, et al. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatr Res. 2004;55:995-1000 pubmed
    ..In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, ..
  2. Alagramam K, MILLER N, Adappa N, Pitts D, Heaphy J, Yuan H, et al. Promoter, alternative splice forms, and genomic structure of protocadherin 15. Genomics. 2007;90:482-92 pubmed
    We originally showed that the protocadherin 15 gene (Pcdh15) is necessary for hearing and balance functions; mutations in Pcdh15 affect hair cell development in Ames waltzer (av) mice...
  3. Aparisi M, García García G, Jaijo T, Rodrigo R, Graziano C, Seri M, et al. Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis. 2010;16:2948-54 pubmed
    ..in the other known USH1 genes (myosin VIIA [MYO7A], cadherin-related 23 [CDH23], protocadherin-related 15 [PCDH15], and Usher syndrome 1G [USH1G]), but no mutation was found...
  4. Ouyang X, Yan D, Du L, Hejtmancik J, Jacobson S, Nance W, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005;116:292-9 pubmed
    ..Mutations in five genes, including MYO7A, USH1C, CDH23, PCDH15 and SANS, have been shown to be the cause of Usher syndrome type 1B, type 1C, type 1D, type 1F and type 1G, ..
  5. Ahmed Z, Riazuddin S, Aye S, Ali R, Venselaar H, Anwar S, et al. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Hum Genet. 2008;124:215-23 pubmed publisher
    Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23)...
  6. Le Quesne Stabej P, Saihan Z, Rangesh N, Steele Stallard H, Ambrose J, Coffey A, et al. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet. 2012;49:27-36 pubmed publisher
    ..The genes MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, WHRN, CLRN1 and the candidate gene SLC4A7 were sequenced in 172 UK Usher patients, ..
  7. Xiong W, Grillet N, Elledge H, Wagner T, Zhao B, Johnson K, et al. TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012;151:1283-95 pubmed publisher
    ..TMHS binds to the tip-link component PCDH15 and regulates tip-link assembly, a process that is disrupted by deafness-causing Tmhs mutations...
  8. Alagramam K, Murcia C, Kwon H, Pawlowski K, Wright C, Woychik R. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet. 2001;27:99-102 pubmed
    ..Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear. ..
  9. Ben Yosef T, Ness S, Madeo A, Bar Lev A, Wolfman J, Ahmed Z, et al. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med. 2003;348:1664-70 pubmed
  10. Zheng Q, Yan D, Ouyang X, Du L, Yu H, Chang B, et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet. 2005;14:103-11 pubmed
    Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
  11. Roux A, Faugère V, Le Guédard S, Pallares Ruiz N, Vielle A, Chambert S, et al. 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%. J Med Genet. 2006;43:763-8 pubmed
    ..The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for...
  12. Le Guédard S, Faugère V, Malcolm S, Claustres M, Roux A. Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Mol Vis. 2007;13:102-7 pubmed
    Protocadherin-15 (PCDH15) is one of the five genes currently identified as being mutated in Usher 1 syndrome and defines Usher syndrome type 1F (USH1F)...
  13. Baux D, Faugère V, Larrieu L, Le Guédard Méreuze S, Hamroun D, Beroud C, et al. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat. 2008;29:E76-87 pubmed publisher
    ..a set of relational databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
  14. Jaijo T, Aller E, García García G, Aparisi M, Bernal S, Avila Fernandez A, et al. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci. 2010;51:1311-7 pubmed publisher
    ..Results must be confirmed by direct sequencing to avoid misdiagnosis, and continuous updates of the microarray should be performed to increase the efficiency and rate of detection of mutations. ..
  15. Alagramam K, Yuan H, Kuehn M, Murcia C, Wayne S, Srisailpathy C, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001;10:1709-18 pubmed
    ..By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus...
  16. Perreault Micale C, Frieden A, Kennedy C, Neitzel D, Sullivan J, Faulkner N, et al. Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. J Mol Diagn. 2014;16:673-8 pubmed publisher
    Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa...
  17. de la Torre P, Choudhary D, Araya Secchi R, Narui Y, Sotomayor M. A Mechanically Weak Extracellular Membrane-Adjacent Domain Induces Dimerization of Protocadherin-15. Biophys J. 2018;115:2368-2385 pubmed publisher
    ..Protocadherin-15 (PCDH15), a protein component of the inner-ear tip link filament essential for mechanotransduction, has 11 EC repeats and ..
  18. Vache C, Besnard T, Blanchet C, Baux D, Larrieu L, Faugère V, et al. Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum Mutat. 2010;31:734-41 pubmed publisher
    ..of RNA transcripts from eight of the nine known genes that cause Usher syndrome, namely, MYO7A, USH1C, CDH23, PCDH15, USH1G for Usher type 1, and USH2A, GPR98, WHRN for Usher type 2...
  19. Sloan Heggen C, Babanejad M, Beheshtian M, Simpson A, Booth K, Ardalani F, et al. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet. 2015;52:823-9 pubmed publisher
    ..with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the ..
  20. Yu P, Jiao J, Chen G, Zhou W, Zhang H, Wu H, et al. Effect of GRM7 polymorphisms on the development of noise-induced hearing loss in Chinese Han workers: a nested case-control study. BMC Med Genet. 2018;19:4 pubmed publisher
    ..detections have been founded that genes of potassium ion channel genes (KCNQ4 and KCNE1), catalase (CAT), protocadherin 15 (PCDH15), myosin 14 (MYH14) and heart shock protein (HSP70) which have been identified in more than one ..
  21. Zallocchi M, Meehan D, Delimont D, Rutledge J, Gratton M, Flannery J, et al. Role for a novel Usher protein complex in hair cell synaptic maturation. PLoS ONE. 2012;7:e30573 pubmed publisher
    ..Cadherin-23 (CDH23), protocadherin-15 (PCDH15) and the very large G-protein coupled receptor 1 (VLGR1) have been implicated in the development of cochlear hair ..
  22. Lambert M, Nevue A, Portfors C. Contrasting patterns of adaptive sequence convergence among echolocating mammals. Gene. 2017;605:1-4 pubmed publisher
    ..However, in the case of the auditory genes Otoferlin (Otof), Cadherin 23 (Cdh23) and Protocadherin 15 (Pcdh15), the reported sequence convergence was supported only by incongruent gene and species trees and ..
  23. Zhou Q, Lenger C, Smith R, Kimberling W, Ye M, Lehmann O, et al. Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I. Mol Vis. 2012;18:1379-83 pubmed
    ..DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F)...
  24. Schietroma C, Parain K, Estivalet A, Aghaie A, Boutet de Monvel J, Picaud S, et al. Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. J Cell Biol. 2017;216:1849-1864 pubmed publisher
    ..tropicalis, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein)...
  25. Dionne G, Qiu X, Rapp M, Liang X, Zhao B, Peng G, et al. Mechanotransduction by PCDH15 Relies on a Novel cis-Dimeric Architecture. Neuron. 2018;99:480-492.e5 pubmed publisher
    The tip link, a filament formed by protocadherin 15 (PCDH15) and cadherin 23, conveys mechanical force from sound waves and head movement to open hair-cell mechanotransduction channels...
  26. Abdi S, Bahloul A, Behlouli A, Hardelin J, Makrelouf M, Boudjelida K, et al. Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. PLoS ONE. 2016;11:e0161893 pubmed publisher
    ..Nine of the 17 different mutations detected in MYO7A (1 of 5 mutations), CDH23 (4 of 7 mutations), PCDH15 (1 mutation), USH1C (1 mutation), USH1G (1 mutation), and USH2A (1 of 2 mutations), had not been previously ..
  27. Nie H, Liu Y, Yin X, Cao H, Wang Y, Xiong W, et al. Plasma Membrane Targeting of Protocadherin 15 Is Regulated by the Golgi-Associated Chaperone Protein PIST. Neural Plast. 2016;2016:8580675 pubmed
    b>Protocadherin 15 (PCDH15) is a core component of hair cell tip-links and crucial for proper function of inner ear hair cells. Mutations of PCDH15 gene cause syndromic and nonsyndromic hearing loss...
  28. Alagramam K, Goodyear R, Geng R, Furness D, van Aken A, Marcotti W, et al. Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells. PLoS ONE. 2011;6:e19183 pubmed publisher
    Immunocytochemical studies have shown that protocadherin-15 (PCDH15) and cadherin-23 (CDH23) are associated with tip links, structures thought to gate the mechanotransducer channels of hair cells in the sensory epithelia of the inner ear...
  29. Konings A, Van Laer L, Wiktorek Smagur A, Rajkowska E, Pawelczyk M, Carlsson P, et al. Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations. Ann Hum Genet. 2009;73:215-24 pubmed publisher
    ..One SNP in PCDH15 (rs7095441), resulted in significant associations in both sample sets while two SNPs in MYH14 (rs667907 and ..
  30. Maeda R, Pacentine I, Erickson T, Nicolson T. Functional Analysis of the Transmembrane and Cytoplasmic Domains of Pcdh15a in Zebrafish Hair Cells. J Neurosci. 2017;37:3231-3245 pubmed publisher
    b>Protocadherin 15 (PCDH15) is required for mechanotransduction in sensory hair cells as a component of the tip link...
  31. Oki N, Motsinger Reif A, Antas P, Levy S, Holland S, Sterling T. Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study. BMC Res Notes. 2011;4:28 pubmed publisher
    ..tuberculosis infection; one (rs4893980) in the gene PDE11A, one (rs10488286) in KCND2, and one (rs2026414) in PCDH15; one was in chromosome 7 but not associated with a known gene...
  32. Khan S, Javed M, Qasim M, Shahzadi S, Jalil A, Rehman S. Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models. Bioinformation. 2014;10:491-5 pubmed publisher
    ..A mutation in any of these genes e.g. CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic deafness...
  33. Nikas J. Independent validation of a mathematical genomic model for survival of glioma patients. Am J Cancer Res. 2016;6:1408-19 pubmed
    ..0%). The 5 gene expression input variables to the model were: FAM120AOS, MXI1, OCIAD2, PCDH15, and PDLIM4...
  34. Huertas Vazquez A, Plaisier C, Geng R, Haas B, Lee J, Greevenbroek M, et al. A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. Hum Genet. 2010;127:83-9 pubmed publisher
    ..In a previous study, we identified an intragenic microsatellite marker within the protocadherin 15 (PCDH15) gene to be associated with high triglycerides (TGs) in Finnish dyslipidemic families...
  35. Schultz J, Bhatti R, Madeo A, Turriff A, Muskett J, Zalewski C, et al. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet. 2011;48:767-75 pubmed publisher
    Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa...
  36. Jaijo T, Oshima A, Aller E, Carney C, Usami S, Millan J, et al. Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. Mol Vis. 2012;18:1719-26 pubmed
    ..Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23)...
  37. Grati M, Yan D, Raval M, Walsh T, Ma Q, Chakchouk I, et al. MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform. Hum Mutat. 2016;37:481-7 pubmed publisher
    ..hypothesis, we investigated the interaction of MYO3A with the cytosolic tail of the integral tip-link protein protocadherin 15 (PCDH15), a core component of MET complex...
  38. Zhan Y, Liu M, Chen D, Chen K, Jiang H. Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23. Int J Pediatr Otorhinolaryngol. 2015;79:983-6 pubmed publisher
    ..Subsequently, a candidate homozygous mutation was confirmed by Sanger sequencing. A novel PCDH15 c.2367_2369delTGT/p.V788-homozygous mutation was detected...
  39. Baty F, Klingbiel D, Zappa F, Brutsche M. High-throughput alternative splicing detection using dually constrained correspondence analysis (DCCA). J Biomed Inform. 2015;58:175-185 pubmed publisher
    ..Splicing candidates reveal a series of genes related to carcinogenesis (SFTPB), cell adhesion (STAB2, PCDH15, HABP2), tumor aggressiveness (ARNTL2), apoptosis, proliferation and differentiation (PDE4D, FLT3, IL1R2), cell ..
  40. Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah -, Nickerson D, et al. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet. 2018;19:122 pubmed publisher
    ..We found that this family displays digenic inheritance for two trans heterozygous missense mutations, one in PCDH15 [p.(Arg1034His)] and another in USH1G [p.(Asp365Asn)]...
  41. Lo M, Hinds D, Tung J, Franz C, Fan C, Wang Y, et al. Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. Nat Genet. 2017;49:152-156 pubmed publisher
    ..Of these genome-wide significant loci, extraversion was associated with variants in WSCD2 and near PCDH15, and neuroticism with variants on chromosome 8p23.1 and in L3MBTL2...
  42. Pepermans E, Petit C. The tip-link molecular complex of the auditory mechano-electrical transduction machinery. Hear Res. 2015;330:10-7 pubmed publisher
    ..Tip-links are composed of cadherin-23 (Cdh23) and protocadherin-15 (Pcdh15), both non-conventional cadherins, that form the upper and the lower part of these links, respectively...
  43. Chen S, Dong C, Wang Q, Zhong Z, Qi Y, Ke X, et al. Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. Genet Test Mol Biomarkers. 2016;20:660-665 pubmed
    ..Collectively, they account for 52.8% of the cases, followed by MTRNR1, PCDH15, and TECTA...
  44. Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, et al. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis. 2013;8:172 pubmed publisher
    ..Next-generation sequencing (NGS) technology is advantageous for genetic diagnosis of heterogeneous diseases that involve numerous causative genes...
  45. Cosgrove D, Zallocchi M. Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol. 2014;46:80-9 pubmed publisher
    ..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 ..
  46. Zhao B, Wu Z, Grillet N, Yan L, Xiong W, Harkins Perry S, et al. TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells. Neuron. 2014;84:954-67 pubmed publisher
    ..Here we show that the transmembrane protein TMIE forms a ternary complex with the tip-link component PCDH15 and its binding partner TMHS/LHFPL5...
  47. Zepeda Mendoza C, Bardon A, Kammin T, Harris D, Cox H, Redin C, et al. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet. 2018;26:374-381 pubmed publisher
    ..4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15)...
  48. Yoshimura H, Miyagawa M, Kumakawa K, Nishio S, Usami S. Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J Hum Genet. 2016;61:419-22 pubmed publisher
    ..2%): three patients harbored MYO7A mutations and one each carried CDH23 or PCDH15 mutations...
  49. Xu X, Yang Q, Jiao J, Zheng Y, He L, Yu S, et al. [Association between variations in protocadherin 15 gene and occupational noise-induced hearing loss]. Zhonghua Yu Fang Yi Xue Za Zhi. 2017;51:20-26 pubmed publisher
    b>Objective: The aim of this study was to investigate whether genetic variability in the protocadherin 15 (PCDH15) gene may correspond with increased susceptibility to noise-induced hearing loss (NIHL) in a Chinese population...
  50. Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, et al. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. J Hum Genet. 2014;59:471-4 pubmed publisher
    ..195G>A (p.Met65Ile) and c.1210A>C (p.Ser404Arg) in PCDH15. PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and ..
  51. Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, et al. Cone dystrophy in patient with homozygous RP1L1 mutation. Biomed Res Int. 2015;2015:545243 pubmed publisher
    ..NGS identified missense changes in the heterozygous state of the PCDH15, RPGRIP1, and GPR98 genes...
  52. Powers R, Gaudet R, Sotomayor M. A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15. Structure. 2017;25:482-495 pubmed publisher
    ..Simulations predict that the partial Ca2+-free EC3-4 linker exhibits increased flexural flexibility without compromised mechanical strength, providing insight into the dynamics of tip links and other atypical cadherins. ..
  53. Choudhary D, Kumar A, Magliery T, Sotomayor M. Using thermal scanning assays to test protein-protein interactions of inner-ear cadherins. PLoS ONE. 2017;12:e0189546 pubmed publisher
    ..fluorescent dye (SYPRO orange) is used to monitor melting temperature (Tm) shifts of protocadherin-15 EC1+2 (pcdh15) in the presence of increasing concentrations of cadherin-23 EC1+2 (cdh23)...
  54. Furness D, Katori Y, Nirmal Kumar B, Hackney C. The dimensions and structural attachments of tip links in mammalian cochlear hair cells and the effects of exposure to different levels of extracellular calcium. Neuroscience. 2008;154:10-21 pubmed publisher
    ..contain cadherin 23 (CDH23) comprising an upper branched portion that is bound to a lower portion composed of protocadherin 15 (PCDH15)...
  55. Yoshimura H, Iwasaki S, Nishio S, Kumakawa K, Tono T, Kobayashi Y, et al. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. PLoS ONE. 2014;9:e90688 pubmed publisher
    ..who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance...
  56. Ben Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, et al. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. Mol Vis. 2016;22:827-35 pubmed
    ..Six USH1 genes have been identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold protein containing ..
  57. Mahendrasingam S, Fettiplace R, Alagramam K, Cross E, Furness D. Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15. PLoS ONE. 2017;12:e0185285 pubmed publisher
    ..transmembrane channel-like protein subunit 1 (TMC1), lipoma HMGIC fusion partner-like 5 protein (LHFPL5) and protocadherin 15 (PCDH15), a lower-end component of the tip link...
  58. Zhou J, Xu C. [Diagnostic Value of Protocadherin 15 for NK/T Cell Lymphoma]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017;25:1680-1684 pubmed publisher
    To explore whether PCDH15-SI is stable and accurate to diagnose NK/T-cell lymphoma or not...
  59. Duman D, Sirmaci A, Cengiz F, Ozdag H, Tekin M. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers. 2011;15:29-33 pubmed publisher
    ..9%), TMIE (6.6%), TMC1 (6.6%), OTOF (5.0%), CDH23 (3.3%), MYO7A (3.3%), SLC26A4 (1.7%), PCDH15 (1.7%), LRTOMT (1.7%), SERPINB6 (1.7%), and TMPRSS3 (1.7%)...
  60. Sliwinska Kowalska M, Pawelczyk M. Contribution of genetic factors to noise-induced hearing loss: a human studies review. Mutat Res. 2013;752:61-5 pubmed publisher
    ..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 ..
  61. Yang T, Wei X, Chai Y, Li L, Wu H. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis. 2013;8:85 pubmed publisher
    ..screened deafness genes were identified in 28 deaf probands, with mutations in MYO15A, GPR98, TMC1, USH2A and PCDH15 being relatively more frequent (?3 probands each)...
  62. Aparisi M, Aller E, Fuster García C, García García G, Rodrigo R, Vázquez Manrique R, et al. Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis. 2014;9:168 pubmed publisher
    ..platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two ..
  63. Wang P, Fan X, Wang Y, Fan Y, Liu Y, Zhang S, et al. Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. Oncotarget. 2017;8:63324-63332 pubmed publisher
    ..and highlighted several strong candidate genes MUC4, MUC6, COL4A4, MYO7A, AKAP12, COL11A1, DSPP, ESPN, GPR98, PCDH15, BSN, CACNA1D, TPRN, and USH1C for microtia (P = 2.51 × 10-4)...
  64. Eandi C, Dallorto L, Spinetta R, Micieli M, Vanzetti M, Mariottini A, et al. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. Sci Rep. 2017;7:15681 pubmed publisher
    ..with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS...
  65. Elledge H, Kazmierczak P, Clark P, Joseph J, Kolatkar A, Kuhn P, et al. Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members. Proc Natl Acad Sci U S A. 2010;107:10708-12 pubmed publisher
    ..Here, we have determined the structure of the EC1-EC2 domains of cadherin 23 (CDH23), which binds to protocadherin 15 (PCDH15) to form tip links of mechanosensory hair cells...
  66. Aparisi M, García García G, Aller E, Sequedo M, Martinez Fernandez de la Camara C, Rodrigo R, et al. Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. PLoS ONE. 2013;8:e57506 pubmed publisher
    ..5856G>A and c.3652G>A), three CDH23 (c.2289+1G>A, c.6049G>A and c.8722+1delG) and one PCDH15 (c...
  67. Benjamin E, Dupuis J, Larson M, Lunetta K, Booth S, Govindaraju D, et al. Genome-wide association with select biomarker traits in the Framingham Heart Study. BMC Med Genet. 2007;8 Suppl 1:S11 pubmed
    ..cgi?id=phs000007 webcite. The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies. ..
  68. Jacobson S, Cideciyan A, Aleman T, Sumaroka A, Roman A, Gardner L, et al. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet. 2008;17:2405-15 pubmed publisher
    ..Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A (USH1B)...
  69. Malm E, Ponjavic V, Moller C, Kimberling W, Andreasson S. Phenotypes in defined genotypes including siblings with Usher syndrome. Ophthalmic Genet. 2011;32:65-74 pubmed publisher
    ..Evaluation of visual function comprising both the severity of the rod cone degeneration and the function in the macular region confirm phenotypical heterogeneity within siblings and between different genotypes of Usher syndrome. ..
  70. Indzhykulian A, Stepanyan R, Nelina A, Spinelli K, Ahmed Z, Belyantseva I, et al. Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells. PLoS Biol. 2013;11:e1001583 pubmed publisher
    ..Current models postulate a static composition of the tip link, with protocadherin 15 (PCDH15) at the lower and cadherin 23 (CDH23) at the upper end of the link...
  71. Dad S, Rendtorff N, Kann E, Albrechtsen A, Mehrjouy M, Bak M, et al. Partial USH2A deletions contribute to Usher syndrome in Denmark. Eur J Hum Genet. 2015;23:1646-51 pubmed publisher
    ..Twelve loci and eleven genes have so far been identified. Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United ..
  72. Chen D, Zhu W, Chai Y, Chen Y, Sun L, Yang T, et al. Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2015;79:1654-7 pubmed publisher
    Mutations in MT-TS1 have been found to be associated with nonsyndromic sensorineural hearing loss (SNHL). PCDH15 codes for protocadherin-15, a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules...
  73. Saleha S, Ajmal M, Jamil M, Nasir M, Hameed A. In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype. Int J Ophthalmol. 2016;9:662-8 pubmed publisher
    ..By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1...
  74. Böhm J, Pianka F, Stüttgen N, Rho J, Gigic B, Zhang Y, et al. Discovery of novel plasma proteins as biomarkers for the development of incisional hernias after midline incision in patients with colorectal cancer: The ColoCare study. Surgery. 2017;161:808-817 pubmed publisher
    ..05). Several proteins were in pathways associated with wound healing (CCL21, SHBG, BRF2) or cell adhesion (PCDH15, CDH3, EPCAM)...
  75. Goodman L, Zallocchi M. Integrin α8 and Pcdh15 act as a complex to regulate cilia biogenesis in sensory cells. J Cell Sci. 2017;130:3698-3712 pubmed publisher
    ..Our data points to a novel mechanism involved in the regulation of sensory cilia development, with the corresponding implications for normal sensory function. ..
  76. Liu X, Angeli S, Rajput K, Yan D, Hodges A, Eshraghi A, et al. Cochlear implantation in individuals with Usher type 1 syndrome. Int J Pediatr Otorhinolaryngol. 2008;72:841-7 pubmed publisher
    ..Mutation analysis of four USH1 genes (MYO7A, USH1C, CDH23, and PCDH15) by single strand conformational polymorphism (SSCP) and direct sequencing methods...
  77. Le Guédard Méreuze S, Vache C, Molinari N, Vaudaine J, Claustres M, Roux A, et al. Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites. Hum Mutat. 2009;30:1329-39 pubmed publisher
    ..Functional studies of three variations identified in donor splice-sites of USH2A and PCDH15 genes sustain this assumption...
  78. Yan J, Pan L, Chen X, Wu L, Zhang M. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc Natl Acad Sci U S A. 2010;107:4040-5 pubmed publisher
    ..Harmonin also binds to other USH1 proteins such as cadherin 23 (CDH23) and protocadherin 15 (PCDH15). However, the molecular basis governing the harmonin and Sans interaction is largely unknown...
  79. Roeseler D, Sachdev S, Buckley D, Joshi T, Wu D, Xu D, et al. Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2. PLoS ONE. 2012;7:e47366 pubmed publisher
    ..genes include EEF1A1, ROBO1, PLXNA4, SLIT3, NRP1, and NOTCH2, as well as genes associated with the Usher syndrome, PCDH15 and USH2A, and are plausible candidates contributing to the developmental defects in Gbx2(-/-) mice...
  80. Chung S, Low S, Zembutsu H, Takahashi A, Kubo M, Sasa M, et al. A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients. Breast Cancer Res. 2013;15:R81 pubmed
  81. Maeda R, Kindt K, Mo W, Morgan C, Erickson T, Zhao H, et al. Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2. Proc Natl Acad Sci U S A. 2014;111:12907-12 pubmed publisher
    The tip link protein protocadherin 15 (PCDH15) is a central component of the mechanotransduction complex in auditory and vestibular hair cells...
  82. Wu C, Lin Y, Liu T, Lin K, Yang W, Hsu C, et al. Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. Medicine (Baltimore). 2015;94:e1073 pubmed publisher
    ..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...
  83. Jiang L, Liang X, Li Y, Wang J, Zaneveld J, Wang H, et al. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015;10:110 pubmed publisher
    ..In addition, we identify mutations in CLRN1, DFNB31, GPR98 and PCDH15 for the first time in Chinese USH patients. Together, mutations in CLRN1, DNFB31, GPR98 and PCDH15 account for 11...
  84. Wang R, Han S, Khan A, Zhang X. Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. Genet Test Mol Biomarkers. 2017;21:316-321 pubmed publisher
    ..six known mutations in GJB2, SLC26A4, LHFPL5, and USH2A and eight novel mutations in ESPN, MYO7A, LRTOMT, PCDH15, USH2A, or EPS8L2...
  85. Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D Eustacchio A, Osland T, et al. Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. Hear Res. 2015;320:18-23 pubmed publisher
    ..Sixteen novel and 27 known alleles were found in the following genes: USH2A (50%), MYO7A (7%), CDH23 (11%), PCDH15 (7%) and USH1G (2%). Overall, on the 44 patients the protocol was able to characterize 74 alleles out of 88 (84%)...
  86. Chen Y, Wang Z, Wang Z, Chen D, Chai Y, Pang X, et al. Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss. PLoS ONE. 2015;10:e0127879 pubmed publisher
    ..V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A...
  87. Nishio S, Takumi Y, Usami S. Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. Hear Res. 2017;348:87-97 pubmed publisher
    ..Syndrome, Col4a3 for Alport syndrome, Sema3e for CHARGE syndrome, Col9a1 for Sticker syndrome, Cdh23, Cib2, Clrn1, Pcdh15, Ush1c, Ush2a, Whrn for Usher syndrome and Wfs1 for Wolfram syndrome) showed higher levels of expression in the ..
  88. Holliday E, Attia J, Hancock S, Koloski N, McEvoy M, Peel R, et al. Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome. Am J Gastroenterol. 2014;109:770-2 pubmed publisher
  89. Ishizuka K, Kimura H, Wang C, Xing J, Kushima I, Arioka Y, et al. Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. PLoS ONE. 2016;11:e0153224 pubmed publisher
    ..b>Protocadherin 15 (PCDH15), which encodes a member of the cadherin super family that contributes to neural development and ..
  90. Dallol A, Daghistani K, Elaimi A, Al Wazani W, Bamanie A, Safiah M, et al. Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia. BMC Med Genet. 2016;17:67 pubmed
    ..an additional 28 % harbored recurrent combinations of novel or rare single nucleotide variants in the OTOF or PCDH15 genes. Such combinations were not identified in healthy individuals...
  91. Abdelfatah N, McComiskey D, Doucette L, Griffin A, Moore S, Negrijn C, et al. Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL. Eur J Hum Genet. 2013;21:1112-9 pubmed publisher
    ..variable SNHL and used a targeted sequencing approach based on population-specific alleles in WFS1, TMPRSS3 and PCDH15; recurrent mutations in GJB2 and GJB6; and frequently mutated exons of KCNQ4, COCH and TECTA...