| Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15. | Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15.
Villasante CM, Deng X, Cohen JE, Hudspeth AJ., Free PMC Article | 09/27/2024 |
| A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree. | A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.
Yang H, Zhang YJ, Zhu L, Zheng WY, Shi MY, Zhao WR, Zhao HC., Free PMC Article | 09/24/2024 |
| The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population. | The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.
Lan Y, Hou T, Peng L, Li Y, Yin S., Free PMC Article | 07/1/2023 |
| Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways. | Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways.
Zhen Y, Cullen CL, Ricci R, Summers BS, Rehman S, Ahmed ZM, Foster AY, Emery B, Gasperini R, Young KM., Free PMC Article | 06/18/2022 |
| Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis. | Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis.
Xu S, Moss TJ, Laura Rubin M, Ning J, Eterovic K, Yu H, Jia R, Fan X, Tetzlaff MT, Esmaeli B. | 07/10/2021 |
| A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome. | A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.
Zheng C, Ren X, Xing D, Bu S, Wen D, He Y, Zhang J, Dong L, Li X. | 06/26/2021 |
| Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception. | Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception.
Choudhary D, Narui Y, Neel BL, Wimalasena LN, Klanseck CF, De-la-Torre P, Chen C, Araya-Secchi R, Tamilselvan E, Sotomayor M., Free PMC Article | 12/12/2020 |
| PCDH15 molecules form double-helical assemblies through cis-dimerization in the extracellular cadherin domain region and in a membrane-proximal domain. | Mechanotransduction by PCDH15 Relies on a Novel cis-Dimeric Architecture.
Dionne G, Qiu X, Rapp M, Liang X, Zhao B, Peng G, Katsamba PS, Ahlsen G, Rubinstein R, Potter CS, Carragher B, Honig B, Müller U, Shapiro L., Free PMC Article | 08/3/2019 |
| The protein products of PCDH15 and USH1G function together at the stereocilia tips in the hair cells. | Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah, University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM., Free PMC Article | 04/20/2019 |
| Novel 4658delT PCDH15 mutation was identified in a family with nonsyndromic hearing loss. | Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.
Chen Y, Lu Y, Kuyaxi P, Cheng J, Zhao J, Zhao Q, Musha P, Zhang H, Yuan H., Free PMC Article | 09/22/2018 |
| rs2045145 associated with more European female facial profile | Genetics of the human face: Identification of large-effect single gene variants.
Crouch DJM, Winney B, Koppen WP, Christmas WJ, Hutnik K, Day T, Meena D, Boumertit A, Hysi P, Nessa A, Spector TD, Kittler J, Bodmer WF., Free PMC Article | 07/21/2018 |
| 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. | Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
Ben-Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, Ghorbel A, Petit C, Masmoudi S., Free PMC Article | 01/20/2018 |
| PCDH15 polymorphism is associated with extraversion. | Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.
Lo MT, Hinds DA, Tung JY, Franz C, Fan CC, Wang Y, Smeland OB, Schork A, Holland D, Kauppi K, Sanyal N, Escott-Price V, Smith DJ, O'Donovan M, Stefansson H, Bjornsdottir G, Thorgeirsson TE, Stefansson K, McEvoy LK, Dale AM, Andreassen OA, Chen CH., Free PMC Article | 09/9/2017 |
| Results present structures of a protocadherin-15 fragment featuring a non-canonical linker region that exhibits increased flexibility without compromising mechanical strength. | A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15.
Powers RE, Gaudet R, Sotomayor M., Free PMC Article | 08/26/2017 |
| This study confirms that genetic variations in PCDH15 modify the susceptibility to noise-induced hearing loss development in humans. | The Effect of PCDH15 Gene Variations on the Risk of Noise-induced Hearing Loss in a Chinese Population.
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. | 07/29/2017 |
| Results uncovered a novel interaction between MYO3A and PCDH15 shedding new light on the function of myosin IIIA at stereocilia tips. | MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
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., Free PMC Article | 12/31/2016 |
| no statistically significant association between any rare, heterozygous PCDH15 point variants and schizophrenia or autism spectrum disorders was found | Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders.
Ishizuka K, Kimura H, Wang C, Xing J, Kushima I, Arioka Y, Oya-Ito T, Uno Y, Okada T, Mori D, Aleksic B, Ozaki N., Free PMC Article | 09/3/2016 |
| PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1 | 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.
Chen DY, Zhu WD, Chai YC, Chen Y, Sun L, Yang T, Wu H. | 04/30/2016 |
| 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. | Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
Zhan Y, Liu M, Chen D, Chen K, Jiang H. | 01/16/2016 |
| 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. | Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
Wu CC, Lin YH, Liu TC, Lin KN, Yang WS, Hsu CJ, Chen PL, Wu CM., Free PMC Article | 09/26/2015 |
| PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly | Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
Perreault-Micale C, Frieden A, Kennedy CJ, Neitzel D, Sullivan J, Faulkner N, Hallam S, Greger V. | 06/20/2015 |
| Genetic variations of PCDH15 and their interactions with occupational noise exposure are associated with genetic susceptibility t onoise-induced hearing loss. | Genetic variations in protocadherin 15 and their interactions with noise exposure associated with noise-induced hearing loss in Chinese population.
Zhang X, Liu Y, Zhang L, Yang Z, Shao Y, Jiang C, Wang Q, Fang X, Xu Y, Wang H, Zhang S, Zhu Y. | 02/14/2015 |
| Patients lacking PCDH15-CD2 isoform are profoundly deaf. | 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 |
| 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. | Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.
Holliday EG, Attia J, Hancock S, Koloski N, McEvoy M, Peel R, D'Amato M, Agréus L, Nyhlin H, Andreasson A, Almazar AE, Saito YA, Scott RJ, Talley NJ. | 06/28/2014 |
| Alberta Hutterites with Usher syndrome type I do not carry the exon 10 mutation in the PCDH15 gene. | Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
Zhou Q, Lenger C, Smith R, Kimberling WJ, Ye M, Lehmann O, MacDonald I., Free PMC Article | 11/17/2012 |