{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T02:34:02Z","timestamp":1791340442980,"version":"4.3.1"},"reference-count":80,"publisher":"Rockefeller University Press","issue":"6","license":[{"start":{"date-parts":[[2019,10,4]],"date-time":"2019-10-04T00:00:00Z","timestamp":1570147200000},"content-version":"vor","delay-in-days":876,"URL":"http:\/\/www.rupress.org\/terms\/"},{"start":{"date-parts":[[2017,12,4]],"date-time":"2017-12-04T00:00:00Z","timestamp":1512345600000},"content-version":"vor","delay-in-days":207,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"funder":[{"name":"FAUN Stiftung"},{"name":"Suchert Foundation"},{"DOI":"10.13039\/501100023264","name":"LHW-Stiftung","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100023264","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100013875","name":"Retina France","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100013875","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/10.0.50.239\/100010663","name":"European Research Council","doi-asserted-by":"publisher","award":["ERC-2011-AdG 294570"],"award-info":[{"award-number":["ERC-2011-AdG 294570"]}],"id":[{"id":"10.13039\/10.0.50.239\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011102","name":"Seventh Framework Program","doi-asserted-by":"publisher","award":["HEALTH-F2-2010-242013"],"award-info":[{"award-number":["HEALTH-F2-2010-242013"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale pour la Recherche","doi-asserted-by":"publisher","award":["ANR-15-RHUS-0001"],"award-info":[{"award-number":["ANR-15-RHUS-0001"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"name":"LabEx Lifesenses","award":["ANR-10-LABX-65"],"award-info":[{"award-number":["ANR-10-LABX-65"]}]}],"content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,6,5]]},"abstract":"<jats:p>Usher syndrome type 1 (USH1) causes combined hearing and sight defects, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive. The USH1 protein complex is associated with calyceal processes, which are microvilli of unknown function surrounding the base of the photoreceptor outer segment. We show that in Xenopus tropicalis, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein). Protocadherin-15 deficiency, obtained by a knockdown approach, leads to impaired photoreceptor function and abnormally shaped photoreceptor outer segments. Rod basal outer disks displayed excessive outgrowth, and cone outer segments were curved, with lamellae of heterogeneous sizes, defects also observed upon knockdown of Cdh23, encoding cadherin-23 (USH1D protein). The calyceal processes were virtually absent in cones and displayed markedly reduced F-actin content in rods, suggesting that protocadherin-15\u2013containing links are essential for their development and\/or maintenance. We propose that calyceal processes, together with their associated links, control the sizing of rod disks and cone lamellae throughout their daily renewal.<\/jats:p>","DOI":"10.1083\/jcb.201612030","type":"journal-article","created":{"date-parts":[[2017,5,11]],"date-time":"2017-05-11T10:40:15Z","timestamp":1494499215000},"page":"1849-1864","update-policy":"https:\/\/doi.org\/10.1083\/jcb.crossmarkpolicy","source":"Crossref","is-referenced-by-count":76,"title":["Usher syndrome type 1\u2013associated cadherins shape the photoreceptor outer segment"],"prefix":"10.1083","volume":"216","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0865-9956","authenticated-orcid":true,"given":"Cataldo","family":"Schietroma","sequence":"first","affiliation":[{"name":"Institut Pasteur, G\u00e9n\u00e9tique et Physiologie de l'Audition, 75015 Paris, France 1"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche-UMRS 1120, France 2"},{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"},{"name":"Syndrome de Usher et Autres Atteintes R\u00e9tino-Cochl\u00e9aires, Institut de la Vision, 75012 Paris, France 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Parain","sequence":"additional","affiliation":[{"name":"Paris-Saclay Institute of Neuroscience, Centre National de la Recherche Scientifique, Universit\u00e9 Paris Sud, Universit\u00e9 Paris-Saclay, 91405 Orsay, France 6"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9932-6438","authenticated-orcid":true,"given":"Amrit","family":"Estivalet","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche-UMRS 1120, France 2"},{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"},{"name":"Syndrome de Usher et Autres Atteintes R\u00e9tino-Cochl\u00e9aires, Institut de la Vision, 75012 Paris, France 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asadollah","family":"Aghaie","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche-UMRS 1120, France 2"},{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"},{"name":"Syndrome de Usher et Autres Atteintes R\u00e9tino-Cochl\u00e9aires, Institut de la Vision, 75012 Paris, France 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6182-3527","authenticated-orcid":true,"given":"Jacques","family":"Boutet de Monvel","sequence":"additional","affiliation":[{"name":"Institut Pasteur, G\u00e9n\u00e9tique et Physiologie de l'Audition, 75015 Paris, France 1"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche-UMRS 1120, France 2"},{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Picaud","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"},{"name":"Retinal information processing - Pharmacology and Pathology, Institut de la Vision, 75012 Paris, France 5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4831-1153","authenticated-orcid":true,"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"},{"name":"Retinal information processing - Pharmacology and Pathology, Institut de la Vision, 75012 Paris, France 5"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1558-8236","authenticated-orcid":true,"given":"Muriel","family":"Perron","sequence":"additional","affiliation":[{"name":"Paris-Saclay Institute of Neuroscience, Centre National de la Recherche Scientifique, Universit\u00e9 Paris Sud, Universit\u00e9 Paris-Saclay, 91405 Orsay, France 6"},{"name":"Centre d'Etude et de Recherche Th\u00e9rapeutique en Ophtalmologie, Retina France, 94405 Orsay, France 7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2692-4984","authenticated-orcid":true,"given":"Aziz","family":"El-Amraoui","sequence":"additional","affiliation":[{"name":"Institut Pasteur, G\u00e9n\u00e9tique et Physiologie de l'Audition, 75015 Paris, France 1"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche-UMRS 1120, France 2"},{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9069-002X","authenticated-orcid":true,"given":"Christine","family":"Petit","sequence":"additional","affiliation":[{"name":"Institut Pasteur, G\u00e9n\u00e9tique et Physiologie de l'Audition, 75015 Paris, France 1"},{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche-UMRS 1120, France 2"},{"name":"Sorbonne Universit\u00e9s, UPMC University Paris, Complexit\u00e9 du Vivant, 75005 Paris, France 3"},{"name":"Syndrome de Usher et Autres Atteintes R\u00e9tino-Cochl\u00e9aires, Institut de la Vision, 75012 Paris, France 4"},{"name":"Coll\u00e8ge de France, 75005 Paris, France 8"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2017,5,11]]},"reference":[{"key":"2023072317550905300_bib1","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1093\/hmg\/ddi031","article-title":"Interactions in the network of Usher syndrome type 1 proteins","volume":"14","author":"Adato","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"2023072317550905300_bib2","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1086\/321277","article-title":"Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F","volume":"69","author":"Ahmed","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2023072317550905300_bib3","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1093\/hmg\/10.16.1709","article-title":"Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F","volume":"10","author":"Alagramam","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"2023072317550905300_bib4","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1016\/j.ygeno.2007.06.007","article-title":"Promoter, alternative splice forms, and genomic structure of protocadherin 15","volume":"90","author":"Alagramam","year":"2007","journal-title":"Genomics."},{"key":"2023072317550905300_bib5","doi-asserted-by":"publisher","first-page":"3557","DOI":"10.1093\/hmg\/ddq271","article-title":"Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids","volume":"19","author":"Bahloul","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"2023072317550905300_bib6","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1083\/jcb.61.2.327","article-title":"Renewal of fatty acids in the membranes of visual cell outer segments","volume":"61","author":"Bibb","year":"1974","journal-title":"J. Cell Biol."},{"key":"2023072317550905300_bib7","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1038\/79178","article-title":"A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene","volume":"26","author":"Bitner-Glindzicz","year":"2000","journal-title":"Nat. Genet."},{"key":"2023072317550905300_bib8","doi-asserted-by":"publisher","first-page":"6689","DOI":"10.1093\/emboj\/cdf689","article-title":"Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle","volume":"21","author":"Bo\u00ebda","year":"2002","journal-title":"EMBO J."},{"key":"2023072317550905300_bib9","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/S0074-7696(02)17015-X","article-title":"Photoreceptor renewal: A role for peripherin\/rds","volume":"217","author":"Boesze-Battaglia","year":"2002","journal-title":"Int. Rev. Cytol."},{"key":"2023072317550905300_bib10","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1038\/83667","article-title":"Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D","volume":"27","author":"Bolz","year":"2001","journal-title":"Nat. Genet."},{"key":"2023072317550905300_bib11","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1083\/jcb.147.7.1533","article-title":"Ezrin promotes morphogenesis of apical microvilli and basal infoldings in retinal pigment epithelium","volume":"147","author":"Bonilha","year":"1999","journal-title":"J. Cell Biol."},{"key":"2023072317550905300_bib12","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1086\/316954","article-title":"Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.","volume":"68","author":"Bork","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2023072317550905300_bib13","doi-asserted-by":"publisher","first-page":"169","DOI":"10.4161\/bioa.1.4.17532","article-title":"Coupling of the mechanotransduction machinery and stereocilia F-actin polymerization in the cochlear hair bundles","volume":"1","author":"Caberlotto","year":"2011","journal-title":"BioArchitecture."},{"key":"2023072317550905300_bib14","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/(SICI)1097-4695(19980605)35:3&lt;227::AID-NEU1&gt;3.0.CO;2-0","article-title":"Sequential genesis and determination of cone and rod photoreceptors in Xenopus","volume":"35","author":"Chang","year":"1998","journal-title":"J. Neurobiol."},{"key":"2023072317550905300_bib15","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1111\/j.1469-185X.1963.tb00789.x","article-title":"Vertebrate retinal cells and their organization","volume":"38","author":"Cohen","year":"1963","journal-title":"Biol. Rev. Camb. Philos. Soc."},{"key":"2023072317550905300_bib16","doi-asserted-by":"publisher","first-page":"2697","DOI":"10.1016\/j.bpj.2012.04.052","article-title":"Cone outer segments: a biophysical model of membrane dynamics, shape retention, and lamella formation","volume":"102","author":"Corless","year":"2012","journal-title":"Biophys. J."},{"key":"2023072317550905300_bib17","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.cell.2014.01.067","article-title":"Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion","volume":"157","author":"Crawley","year":"2014","journal-title":"Cell."},{"key":"2023072317550905300_bib18","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1016\/j.devcel.2015.12.022","article-title":"ANKS4B is essential for intermicrovillar adhesion complex formation","volume":"36","author":"Crawley","year":"2016","journal-title":"Dev. Cell."},{"key":"2023072317550905300_bib19","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1152\/jn.90848.2008","article-title":"Visual avoidance in Xenopus tadpoles is correlated with the maturation of visual responses in the optic tectum","volume":"101","author":"Dong","year":"2009","journal-title":"J. Neurophysiol."},{"key":"2023072317550905300_bib20","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1091\/mbc.E02-06-0317","article-title":"Myo3A, one of two class III myosin genes expressed in vertebrate retina, is localized to the calycal processes of rod and cone photoreceptors and is expressed in the sacculus","volume":"14","author":"Dos\u00e9","year":"2003","journal-title":"Mol. Biol. Cell."},{"key":"2023072317550905300_bib21","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/S1350-9462(96)00026-2","article-title":"Morphogenesis and renewal of cone outer segments","volume":"16","author":"Eckmiller","year":"1997","journal-title":"Prog. Retin. Eye Res."},{"key":"2023072317550905300_bib22","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1017\/S0952523800175054","article-title":"Microtubules in a rod-specific cytoskeleton associated with outer segment incisures","volume":"17","author":"Eckmiller","year":"2000","journal-title":"Vis. Neurosci."},{"key":"2023072317550905300_bib23","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/j.preteyeres.2004.04.005","article-title":"Defective cone photoreceptor cytoskeleton, alignment, feedback, and energetics can lead to energy depletion in macular degeneration","volume":"23","author":"Eckmiller","year":"2004","journal-title":"Prog. Retin. Eye Res."},{"key":"2023072317550905300_bib24","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.crvi.2013.12.004","article-title":"The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models","volume":"337","author":"El-Amraoui","year":"2014","journal-title":"C. R. Biol."},{"key":"2023072317550905300_bib25","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1007\/BF01203279","article-title":"Comparison of three methods of estimating the parameters of the Naka-Rushton equation","volume":"84","author":"Evans","year":"1993","journal-title":"Doc. Ophthalmol."},{"key":"2023072317550905300_bib26","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.ejpn.2008.10.002","article-title":"Usher syndrome type 1: Early detection of electroretinographic changes","volume":"13","author":"Flores-Guevara","year":"2009","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"2023072317550905300_bib27","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/0378-5955(85)90010-3","article-title":"Cross-links between stereocilia in the guinea pig cochlea","volume":"18","author":"Furness","year":"1985","journal-title":"Hear. Res."},{"key":"2023072317550905300_bib28","doi-asserted-by":"crossref","first-page":"7013","DOI":"10.1523\/JNEUROSCI.21-18-07013.2001","article-title":"FM1-43 dye behaves as a permeant blocker of the hair-cell mechanotransducer channel","volume":"21","author":"Gale","year":"2001","journal-title":"J. Neurosci."},{"key":"2023072317550905300_bib29","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1002\/jemt.1070300608","article-title":"Confocal microscopy of thick sections from acrylamide gel embedded embryos","volume":"30","author":"Germroth","year":"1995","journal-title":"Microsc. Res. Tech."},{"key":"2023072317550905300_bib30","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1146\/annurev.physiol.66.032102.112842","article-title":"Myosin-1c, the hair cell\u2019s adaptation motor","volume":"66","author":"Gillespie","year":"2004","journal-title":"Annu. Rev. Physiol."},{"key":"2023072317550905300_bib31","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/S0074-7696(06)53004-9","article-title":"Role of peripherin\/rds in vertebrate photoreceptor architecture and inherited retinal degenerations","volume":"253","author":"Goldberg","year":"2006","journal-title":"Int. Rev. Cytol."},{"key":"2023072317550905300_bib32","doi-asserted-by":"publisher","first-page":"4288","DOI":"10.1002\/cne.22456","article-title":"Asymmetric distribution of cadherin 23 and protocadherin 15 in the kinocilial links of avian sensory hair cells","volume":"518","author":"Goodyear","year":"2010","journal-title":"J. Comp. Neurol."},{"key":"2023072317550905300_bib33","first-page":"304","article-title":"A stable lead by modification of Sato\u2019s method","volume":"35","author":"Hanaichi","year":"1986","journal-title":"J. Electron Microsc. (Tokyo)."},{"key":"2023072317550905300_bib34","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1002\/dvdy.10178","article-title":"Xenopus, the next generation: X. tropicalis genetics and genomics","volume":"225","author":"Hirsch","year":"2002","journal-title":"Dev. Dyn."},{"key":"2023072317550905300_bib35","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1002\/jez.1401890309","article-title":"Pigmented retinal epithelium involvement in photoreceptor development and function","volume":"189","author":"Hollyfield","year":"1974","journal-title":"J. Exp. Zool."},{"key":"2023072317550905300_bib36","doi-asserted-by":"publisher","first-page":"e1001583","DOI":"10.1371\/journal.pbio.1001583","article-title":"Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells","volume":"11","author":"Indzhykulian","year":"2013","journal-title":"PLoS Biol."},{"key":"2023072317550905300_bib37","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1002\/dvg.22873","article-title":"Xenbase: Core features, data acquisition, and data processing","volume":"53","author":"James-Zorn","year":"2015","journal-title":"Genesis."},{"key":"2023072317550905300_bib38","doi-asserted-by":"publisher","first-page":"1330","DOI":"10.1073\/pnas.90.4.1330","article-title":"Displacement-clamp measurement of the forces exerted by gating springs in the hair bundle","volume":"90","author":"Jaramillo","year":"1993","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072317550905300_bib39","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/nature06091","article-title":"Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells","volume":"449","author":"Kazmierczak","year":"2007","journal-title":"Nature."},{"key":"2023072317550905300_bib40","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1016\/j.ydbio.2005.01.015","article-title":"Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development","volume":"280","author":"Lagziel","year":"2005","journal-title":"Dev. Biol."},{"key":"2023072317550905300_bib41","doi-asserted-by":"crossref","first-page":"4439","DOI":"10.1242\/dev.128.22.4439","article-title":"Proteolytic cleavage of Chordin as a switch for the dual activities of Twisted gastrulation in BMP signaling","volume":"128","author":"Larra\u00edn","year":"2001","journal-title":"Development."},{"key":"2023072317550905300_bib42","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1242\/dev.012922","article-title":"A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth","volume":"135","author":"Lef\u00e8vre","year":"2008","journal-title":"Development."},{"key":"2023072317550905300_bib43","doi-asserted-by":"publisher","first-page":"12907","DOI":"10.1073\/pnas.1402152111","article-title":"Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2","volume":"111","author":"Maeda","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072317550905300_bib44","doi-asserted-by":"publisher","first-page":"65","DOI":"10.3109\/13816810.2010.536064","article-title":"Phenotypes in defined genotypes including siblings with Usher syndrome","volume":"32","author":"Malm","year":"2011","journal-title":"Ophthalmic Genet."},{"key":"2023072317550905300_bib45","doi-asserted-by":"publisher","first-page":"30","DOI":"10.5301\/EJO.2010.5433","article-title":"Alteration of rod and cone function in children with Usher syndrome","volume":"21","author":"Malm","year":"2011","journal-title":"Eur. J. Ophthalmol."},{"key":"2023072317550905300_bib46","doi-asserted-by":"publisher","first-page":"5992","DOI":"10.1073\/pnas.0307704101","article-title":"Forces generated during actin-based propulsion: a direct measurement by micromanipulation","volume":"101","author":"Marcy","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072317550905300_bib47","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1016\/j.bbadis.2014.11.020","article-title":"Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities","volume":"1852","author":"Mathur","year":"2015","journal-title":"Biochim. Biophys. Acta."},{"key":"2023072317550905300_bib48","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.ydbio.2005.01.014","article-title":"Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells","volume":"280","author":"Michel","year":"2005","journal-title":"Dev. Biol."},{"key":"2023072317550905300_bib49","doi-asserted-by":"publisher","first-page":"7043","DOI":"10.1167\/iovs.15-17022","article-title":"The negative cone mosaic: a new manifestation of the optical Stiles-Crawford effect in normal eyes","volume":"56","author":"Miloudi","year":"2015","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2023072317550905300_bib50","first-page":"111","article-title":"Plastic embedding mixtures for use in electron microscopy","volume":"39","author":"Mollenhauer","year":"1964","journal-title":"Stain Technol."},{"key":"2023072317550905300_bib51","doi-asserted-by":"crossref","first-page":"9229","DOI":"10.1523\/JNEUROSCI.23-27-09229.2003","article-title":"The transmembrane semaphorin Sema4D\/CD100, an inhibitor of axonal growth, is expressed on oligodendrocytes and upregulated after CNS lesion","volume":"23","author":"Moreau-Fauvarque","year":"2003","journal-title":"J. Neurosci."},{"key":"2023072317550905300_bib52","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1113\/jphysiol.1966.sp008002","article-title":"An attempt to analyse colour reception by electrophysiology","volume":"185","author":"Naka","year":"1966","journal-title":"J. Physiol."},{"key":"2023072317550905300_bib53","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1167\/iovs.03-0989","article-title":"Cellular retinaldehyde-binding protein interacts with ERM-binding phosphoprotein 50 in retinal pigment epithelium","volume":"45","author":"Nawrot","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2023072317550905300_bib54","volume-title":"Normal Table of Xenopus laevis (Daudin): A Systematical and Chronological Survey of the Development from the Fertilized Egg till the End of Metamorphosis.","author":"Nieuwkoop","year":"1967"},{"key":"2023072317550905300_bib55","doi-asserted-by":"publisher","first-page":"984","DOI":"10.15252\/emmm.201403976","article-title":"The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells","volume":"6","author":"Pepermans","year":"2014","journal-title":"EMBO Mol. Med."},{"key":"2023072317550905300_bib56","doi-asserted-by":"publisher","first-page":"1124","DOI":"10.1529\/biophysj.106.098038","article-title":"Dynamical control of the shape and size of stereocilia and microvilli","volume":"93","author":"Prost","year":"2007","journal-title":"Biophys. J."},{"key":"2023072317550905300_bib57","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1038\/cr.2009.6","article-title":"DOG 1.0: illustrator of protein domain structures","volume":"19","author":"Ren","year":"2009","journal-title":"Cell Res."},{"key":"2023072317550905300_bib58","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1038\/ng.2426","article-title":"Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48","volume":"44","author":"Riazuddin","year":"2012","journal-title":"Nat. Genet."},{"key":"2023072317550905300_bib59","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1146\/annurev-physiol-012110-142228","article-title":"How the genetics of deafness illuminates auditory physiology","volume":"73","author":"Richardson","year":"2011","journal-title":"Annu. Rev. Physiol."},{"key":"2023072317550905300_bib60","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1146\/annurev-neuro-061010-113705","article-title":"The auditory hair cell ribbon synapse: From assembly to function","volume":"35","author":"Safieddine","year":"2012","journal-title":"Annu. Rev. Neurosci."},{"key":"2023072317550905300_bib61","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1083\/jcb.201202012","article-title":"Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice","volume":"199","author":"Sahly","year":"2012","journal-title":"J. Cell Biol."},{"key":"2023072317550905300_bib62","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1242\/dev.01591","article-title":"Duplicated genes with split functions: Independent roles of protocadherin15 orthologues in zebrafish hearing and vision","volume":"132","author":"Seiler","year":"2005","journal-title":"Development."},{"key":"2023072317550905300_bib63","doi-asserted-by":"publisher","first-page":"14946","DOI":"10.1073\/pnas.232579599","article-title":"The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions","volume":"99","author":"Siemens","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072317550905300_bib64","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1002\/dvdy.20665","article-title":"Developmental expression profiles of Xenopus laevis reference genes","volume":"235","author":"\u0160indelka","year":"2006","journal-title":"Dev. Dyn."},{"key":"2023072317550905300_bib65","first-page":"194","article-title":"Some observations on the structure of the retinal receptors of the toad eye as revealed by the electron microscope","volume-title":"Electron Microscopy: Proceedings of the Stockholm Conference, September, 1956.","author":"Sj\u00f6strand","year":"1957"},{"key":"2023072317550905300_bib66","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1038\/nature02484","article-title":"Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells","volume":"428","author":"S\u00f6llner","year":"2004","journal-title":"Nature."},{"key":"2023072317550905300_bib67","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1038\/nature11590","article-title":"Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction","volume":"492","author":"Sotomayor","year":"2012","journal-title":"Nature."},{"key":"2023072317550905300_bib68","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1002\/cne.901900307","article-title":"Disc morphogenesis in vertebrate photoreceptors","volume":"190","author":"Steinberg","year":"1980","journal-title":"J. Comp. Neurol."},{"key":"2023072317550905300_bib69","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1006\/dbio.1994.1076","article-title":"Photoreceptor outer segment development in Xenopus laevis: influence of the pigment epithelium","volume":"162","author":"Stiemke","year":"1994","journal-title":"Dev. Biol."},{"key":"2023072317550905300_bib70","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.preteyeres.2015.12.002","article-title":"PRPH2\/RDS and ROM-1: Historical context, current views and future considerations","volume":"52","author":"Stuck","year":"2016","journal-title":"Prog. Retin. Eye Res."},{"key":"2023072317550905300_bib71","doi-asserted-by":"publisher","first-page":"1728","DOI":"10.1038\/nn.3852","article-title":"Rods in daylight act as relay cells for cone-driven horizontal cell-mediated surround inhibition","volume":"17","author":"Szikra","year":"2014","journal-title":"Nat. Neurosci."},{"key":"2023072317550905300_bib72","doi-asserted-by":"publisher","first-page":"28706","DOI":"10.1038\/srep28706","article-title":"Cadherin 23-C regulates microtubule networks by modifying CAMSAP3\u2019s function","volume":"6","author":"Takahashi","year":"2016","journal-title":"Sci. Rep."},{"key":"2023072317550905300_bib73","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1038\/79171","article-title":"A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C","volume":"26","author":"Verpy","year":"2000","journal-title":"Nat. Genet."},{"key":"2023072317550905300_bib74","doi-asserted-by":"publisher","first-page":"14870","DOI":"10.1073\/pnas.1516309112","article-title":"Three-dimensional organization of nascent rod outer segment disk membranes","volume":"112","author":"Volland","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2023072317550905300_bib75","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1093\/hmg\/ddg051","article-title":"Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin","volume":"12","author":"Weil","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"2023072317550905300_bib76","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/374060a0","article-title":"Defective myosin VIIA gene responsible for Usher syndrome type 1B","volume":"374","author":"Well","year":"1995","journal-title":"Nature."},{"key":"2023072317550905300_bib77","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.visres.2007.08.015","article-title":"Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy","volume":"48","author":"Williams","year":"2008","journal-title":"Vision Res."},{"key":"2023072317550905300_bib78","first-page":"785","article-title":"Evaluation of rapid cooling and tricaine methanesulfonate (MS222) as methods of euthanasia in zebrafish (Danio rerio)","volume":"48","author":"Wilson","year":"2009","journal-title":"J. Am. Assoc. Lab. Anim. Sci."},{"key":"2023072317550905300_bib79","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1002\/1097-0029(20000901)50:5&lt;338::AID-JEMT3&gt;3.0.CO;2-I","article-title":"Photoreceptor classes and transmission at the photoreceptor synapse in the retina of the clawed frog, Xenopus laevis","volume":"50","author":"Witkovsky","year":"2000","journal-title":"Microsc. Res. Tech."},{"key":"2023072317550905300_bib80","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1083\/jcb.33.1.61","article-title":"The renewal of photoreceptor cell outer segments","volume":"33","author":"Young","year":"1967","journal-title":"J. Cell Biol."}],"container-title":["Journal of Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jcb\/article-pdf\/216\/6\/1849\/1615853\/jcb_201612030.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jcb\/article-pdf\/216\/6\/1849\/1615853\/jcb_201612030.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,23]],"date-time":"2023-07-23T13:55:54Z","timestamp":1690120554000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jcb\/article\/216\/6\/1849\/38992\/Usher-syndrome-type-1-associated-cadherins-shape"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,11]]},"references-count":80,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6,5]]}},"URL":"https:\/\/doi.org\/10.1083\/jcb.201612030","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.727609119.793532154","asserted-by":"object"}]},"ISSN":["0021-9525","1540-8140"],"issn-type":[{"value":"0021-9525","type":"print"},{"value":"1540-8140","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,11]]}}}