{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:09:40Z","timestamp":1791353380216,"version":"4.3.1"},"reference-count":63,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T00:00:00Z","timestamp":1348963200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T00:00:00Z","timestamp":1348963200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2012,11]]},"DOI":"10.1038\/ng.2426","type":"journal-article","created":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T15:46:08Z","timestamp":1349019968000},"page":"1265-1271","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":244,"title":["Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48"],"prefix":"10.1038","volume":"44","author":[{"given":"Saima","family":"Riazuddin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna A","family":"Belyantseva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud P J","family":"Giese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwanghyuk","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artur A","family":"Indzhykulian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sri Pratima","family":"Nandamuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rizwan","family":"Yousaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghanshyam P","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sue","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Terrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi S","family":"Hegde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana A","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Anwar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula B","family":"Andrade-Elizondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asli","family":"Sirmaci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie V","family":"Parise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul","family":"Wali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Ayub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaheen N","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javed","family":"Akram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheikh","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke K","family":"Buschbeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory I","family":"Frolenkov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne M","family":"Leal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas B","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zubair M","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,9,30]]},"reference":[{"key":"BFng2426_CR1","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s00439-004-1247-y","volume":"116","author":"J Ahmad","year":"2005","unstructured":"Ahmad, J. et al. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum. Genet. 116, 407\u2013412 (2005).","journal-title":"Hum. Genet."},{"key":"BFng2426_CR2","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1399-0004.2008.01038.x","volume":"75","author":"ZM Ahmed","year":"2009","unstructured":"Ahmed, Z.M., Riazuddin, S., Khan, S.N., Friedman, P.L. & Friedman, T.B. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22\u201323. Clin. Genet. 75, 86\u201391 (2009).","journal-title":"Clin. Genet."},{"key":"BFng2426_CR3","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248\u2013249 (2010).","journal-title":"Nat. Methods"},{"key":"BFng2426_CR4","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz, J.M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575\u2013576 (2010).","journal-title":"Nat. Methods"},{"key":"BFng2426_CR5","doi-asserted-by":"crossref","first-page":"8407","DOI":"10.1074\/jbc.M411515200","volume":"280","author":"HR Gentry","year":"2005","unstructured":"Gentry, H.R. et al. Structural and biochemical characterization of CIB1 delineates a new family of EF-hand\u2013containing proteins. J. Biol. Chem. 280, 8407\u20138415 (2005).","journal-title":"J. Biol. Chem."},{"key":"BFng2426_CR6","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.abb.2009.05.002","volume":"487","author":"M Blazejczyk","year":"2009","unstructured":"Blazejczyk, M. et al. Biochemical characterization and expression analysis of a novel EF-hand Ca2+ binding protein calmyrin2 (Cib2) in brain indicates its function in NMDA receptor mediated Ca2+ signaling. Arch. Biochem. Biophys. 487, 66\u201378 (2009).","journal-title":"Arch. Biochem. Biophys."},{"key":"BFng2426_CR7","doi-asserted-by":"crossref","first-page":"17181","DOI":"10.1074\/jbc.M110.179028","volume":"286","author":"H Huang","year":"2011","unstructured":"Huang, H., Ishida, H., Yamniuk, A.P. & Vogel, H.J. Solution structures of Ca2+-CIB1 and Mg2+-CIB1 and their interactions with the platelet integrin \u03b1IIb cytoplasmic domain. J. Biol. Chem. 286, 17181\u201317192 (2011).","journal-title":"J. Biol. Chem."},{"key":"BFng2426_CR8","doi-asserted-by":"crossref","first-page":"3864","DOI":"10.1021\/ja2111306","volume":"134","author":"H Huang","year":"2012","unstructured":"Huang, H. & Vogel, H.J. Structural basis for the activation of platelet integrin \u03b1IIb\u03b23 by calcium- and integrin-binding protein 1. J. Am. Chem. Soc. 134, 3864\u20133872 (2012).","journal-title":"J. Am. Chem. Soc."},{"key":"BFng2426_CR9","doi-asserted-by":"crossref","first-page":"24760","DOI":"10.1074\/jbc.M801166200","volume":"283","author":"M H\u00e4ger","year":"2008","unstructured":"H\u00e4ger, M. et al. Cib2 binds integrin \u03b17B\u03b21D and is reduced in laminin \u03b12 chain\u2013deficient muscular dystrophy. J. Biol. Chem. 283, 24760\u201324769 (2008).","journal-title":"J. Biol. Chem."},{"key":"BFng2426_CR10","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1038\/sj.emboj.7600037","volume":"23","author":"NN Kasri","year":"2004","unstructured":"Kasri, N.N. et al. Regulation of InsP3 receptor activity by neuronal Ca2+-binding proteins. EMBO J. 23, 312\u2013321 (2004).","journal-title":"EMBO J."},{"key":"BFng2426_CR11","doi-asserted-by":"crossref","first-page":"2249","DOI":"10.1111\/j.1471-4159.2008.05563.x","volume":"106","author":"JK Hennigs","year":"2008","unstructured":"Hennigs, J.K. et al. Sweet taste receptor interacting protein CIB1 is a general inhibitor of InsP3-dependent Ca2+ release in vivo. J. Neurochem. 106, 2249\u20132262 (2008).","journal-title":"J. Neurochem."},{"key":"BFng2426_CR12","doi-asserted-by":"crossref","first-page":"6918","DOI":"10.1523\/JNEUROSCI.19-16-06918.1999","volume":"19","author":"F Mammano","year":"1999","unstructured":"Mammano, F. et al. ATP-induced Ca2+ release in cochlear outer hair cells: localization of an inositol triphosphate\u2013gated Ca2+ store to the base of the sensory hair bundle. J. Neurosci. 19, 6918\u20136929 (1999).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR13","doi-asserted-by":"crossref","first-page":"20825","DOI":"10.1074\/jbc.M602175200","volume":"281","author":"C White","year":"2006","unstructured":"White, C., Yang, J., Monteiro, M.J. & Foskett, J.K. CIB1, a ubiquitously expressed Ca2+-binding protein ligand of the InsP3 receptor Ca2+ release channel. J. Biol. Chem. 281, 20825\u201320833 (2006).","journal-title":"J. Biol. Chem."},{"key":"BFng2426_CR14","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1152\/jn.00019.2010","volume":"104","author":"M Beurg","year":"2010","unstructured":"Beurg, M., Nam, J.H., Chen, Q. & Fettiplace, R. Calcium balance and mechanotransduction in rat cochlear hair cells. J. Neurophysiol. 104, 18\u201334 (2010).","journal-title":"J. Neurophysiol."},{"key":"BFng2426_CR15","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.exer.2005.11.010","volume":"83","author":"J Reiners","year":"2006","unstructured":"Reiners, J., Nagel-Wolfrum, K., Jurgens, K., Marker, T. & Wolfrum, U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp. Eye Res. 83, 97\u2013119 (2006).","journal-title":"Exp. Eye Res."},{"key":"BFng2426_CR16","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1093\/hmg\/ddi490","volume":"15","author":"E van Wijk","year":"2006","unstructured":"van Wijk, E. et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet. 15, 751\u2013765 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2426_CR17","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/ncb1219","volume":"7","author":"IA Belyantseva","year":"2005","unstructured":"Belyantseva, I.A. et al. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat. Cell Biol. 7, 148\u2013156 (2005).","journal-title":"Nat. Cell Biol."},{"key":"BFng2426_CR18","doi-asserted-by":"crossref","first-page":"7013","DOI":"10.1523\/JNEUROSCI.21-18-07013.2001","volume":"21","author":"JE Gale","year":"2001","unstructured":"Gale, J.E., Marcotti, W., Kennedy, H.J., Kros, C.J. & Richardson, G.P. FM1-43 dye behaves as a permeant blocker of the hair-cell mechanotransducer channel. J. Neurosci. 21, 7013\u20137025 (2001).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR19","doi-asserted-by":"crossref","first-page":"4054","DOI":"10.1523\/JNEUROSCI.23-10-04054.2003","volume":"23","author":"JR Meyers","year":"2003","unstructured":"Meyers, J.R. et al. Lighting up the senses: FM1-43 loading of sensory cells through nonselective ion channels. J. Neurosci. 23, 4054\u20134065 (2003).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR20","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/j.ydbio.2004.05.004","volume":"272","author":"C Seiler","year":"2004","unstructured":"Seiler, C. et al. Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish. Dev. Biol. 272, 328\u2013338 (2004).","journal-title":"Dev. Biol."},{"key":"BFng2426_CR21","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/(SICI)1097-4695(19991115)41:3<424::AID-NEU10>3.0.CO;2-G","volume":"41","author":"C Seiler","year":"1999","unstructured":"Seiler, C. & Nicolson, T. Defective calmodulin-dependent rapid apical endocytosis in zebrafish sensory hair cell mutants. J. Neurobiol. 41, 424\u2013434 (1999).","journal-title":"J. Neurobiol."},{"key":"BFng2426_CR22","doi-asserted-by":"crossref","first-page":"6300","DOI":"10.1523\/JNEUROSCI.18-16-06300.1998","volume":"18","author":"EA Lumpkin","year":"1998","unstructured":"Lumpkin, E.A. & Hudspeth, A.J. Regulation of free Ca2+ concentration in hair-cell stereocilia. J. Neurosci. 18, 6300\u20136318 (1998).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR23","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1016\/0896-6273(95)90010-1","volume":"15","author":"W Denk","year":"1995","unstructured":"Denk, W., Holt, J.R., Shepherd, G.M. & Corey, D.P. Calcium imaging of single stereocilia in hair cells: localization of transduction channels at both ends of tip links. Neuron 15, 1311\u20131321 (1995).","journal-title":"Neuron"},{"key":"BFng2426_CR24","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/S0959-4388(03)00094-1","volume":"13","author":"R Fettiplace","year":"2003","unstructured":"Fettiplace, R. & Ricci, A.J. Adaptation in auditory hair cells. Curr. Opin. Neurobiol. 13, 446\u2013451 (2003).","journal-title":"Curr. Opin. Neurobiol."},{"key":"BFng2426_CR25","doi-asserted-by":"crossref","first-page":"10832","DOI":"10.1523\/JNEUROSCI.23-34-10832.2003","volume":"23","author":"A Brandt","year":"2003","unstructured":"Brandt, A., Striessnig, J. & Moser, T. CaV1.3 channels are essential for development and presynaptic activity of cochlear inner hair cells. J. Neurosci. 23, 10832\u201310840 (2003).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR26","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/S0959-4388(03)00098-9","volume":"13","author":"PA Fuchs","year":"2003","unstructured":"Fuchs, P.A., Glowatzki, E. & Moser, T. The afferent synapse of cochlear hair cells. Curr. Opin. Neurobiol. 13, 452\u2013458 (2003).","journal-title":"Curr. Opin. Neurobiol."},{"key":"BFng2426_CR27","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1523\/JNEUROSCI.10-04-01388.1990","volume":"10","author":"D Dulon","year":"1990","unstructured":"Dulon, D., Zajic, G. & Schacht, J. Increasing intracellular free calcium induces circumferential contractions in isolated cochlear outer hair cells. J. Neurosci. 10, 1388\u20131397 (1990).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR28","doi-asserted-by":"crossref","first-page":"2212","DOI":"10.1523\/JNEUROSCI.17-06-02212.1997","volume":"17","author":"P Dallos","year":"1997","unstructured":"Dallos, P. et al. Acetylcholine, outer hair cell electromotility, and the cochlear amplifier. J. Neurosci. 17, 2212\u20132226 (1997).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR29","doi-asserted-by":"crossref","first-page":"5940","DOI":"10.1523\/JNEUROSCI.20-16-05940.2000","volume":"20","author":"GI Frolenkov","year":"2000","unstructured":"Frolenkov, G.I., Mammano, F., Belyantseva, I.A., Coling, D. & Kachar, B. Two distinct Ca2+-dependent signaling pathways regulate the motor output of cochlear outer hair cells. J. Neurosci. 20, 5940\u20135948 (2000).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR30","doi-asserted-by":"crossref","first-page":"5629","DOI":"10.1523\/JNEUROSCI.16-18-05629.1996","volume":"16","author":"ME Benser","year":"1996","unstructured":"Benser, M.E., Marquis, R.E. & Hudspeth, A.J. Rapid, active hair bundle movements in hair cells from the bullfrog's sacculus. J. Neurosci. 16, 5629\u20135643 (1996).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR31","first-page":"357","volume":"47","author":"AJ Hudspeth","year":"1992","unstructured":"Hudspeth, A.J. Hair-bundle mechanics and a model for mechanoelectrical transduction by hair cells. Soc. Gen. Physiol. Ser. 47, 357\u2013370 (1992).","journal-title":"Soc. Gen. Physiol. Ser."},{"key":"BFng2426_CR32","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1523\/JNEUROSCI.07-09-02821.1987","volume":"7","author":"RA Eatock","year":"1987","unstructured":"Eatock, R.A., Corey, D.P. & Hudspeth, A.J. Adaptation of mechanoelectrical transduction in hair cells of the bullfrog's sacculus. J. Neurosci. 7, 2821\u20132836 (1987).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR33","doi-asserted-by":"crossref","first-page":"8261","DOI":"10.1523\/JNEUROSCI.18-20-08261.1998","volume":"18","author":"AJ Ricci","year":"1998","unstructured":"Ricci, A.J., Wu, Y.C. & Fettiplace, R. The endogenous calcium buffer and the time course of transducer adaptation in auditory hair cells. J. Neurosci. 18, 8261\u20138277 (1998).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR34","first-page":"99","volume":"5","author":"JD Wood","year":"2004","unstructured":"Wood, J.D., Muchinsky, S.J., Filoteo, A.G., Penniston, J.T. & Tempel, B.L. Low endolymph calcium concentrations in deafwaddler2J mice suggest that PMCA2 contributes to endolymph calcium maintenance. J. Assoc. Res. Otolaryngol. 5, 99\u2013110 (2004).","journal-title":"J. Assoc. Res. Otolaryngol."},{"key":"BFng2426_CR35","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1523\/JNEUROSCI.18-02-00610.1998","volume":"18","author":"EN Yamoah","year":"1998","unstructured":"Yamoah, E.N. et al. Plasma membrane Ca2+-ATPase extrudes Ca2+ from hair cell stereocilia. J. Neurosci. 18, 610\u2013624 (1998).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR36","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0378-5955(96)00167-0","volume":"103","author":"RA Baird","year":"1997","unstructured":"Baird, R.A., Steyger, P.S. & Schuff, N.R. Intracellular distributions and putative functions of calcium-binding proteins in the bullfrog vestibular otolith organs. Hear. Res. 103, 85\u2013100 (1997).","journal-title":"Hear. Res."},{"key":"BFng2426_CR37","doi-asserted-by":"crossref","first-page":"2807","DOI":"10.1073\/pnas.90.7.2807","volume":"90","author":"RG Walker","year":"1993","unstructured":"Walker, R.G., Hudspeth, A.J. & Gillespie, P.G. Calmodulin and calmodulin-binding proteins in hair bundles. Proc. Natl. Acad. Sci. USA 90, 2807\u20132811 (1993).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng2426_CR38","doi-asserted-by":"crossref","first-page":"7867","DOI":"10.1523\/JNEUROSCI.1196-05.2005","volume":"25","author":"CM Hackney","year":"2005","unstructured":"Hackney, C.M., Mahendrasingam, S., Penn, A. & Fettiplace, R. The concentrations of calcium buffering proteins in mammalian cochlear hair cells. J. Neurosci. 25, 7867\u20137875 (2005).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR39","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/0006-8993(91)91224-O","volume":"560","author":"CJ Dechesne","year":"1991","unstructured":"Dechesne, C.J. et al. Identification and ultrastructural localization of a calretinin-like calcium-binding protein (protein 10) in the guinea pig and rat inner ear. Brain Res. 560, 139\u2013148 (1991).","journal-title":"Brain Res."},{"key":"BFng2426_CR40","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/neu.10289","volume":"58","author":"D Yang","year":"2004","unstructured":"Yang, D., Thalmann, I., Thalmann, R. & Simmons, D.D. Expression of \u03b1 and \u03b2 parvalbumin is differentially regulated in the rat organ of corti during development. J. Neurobiol. 58, 479\u2013492 (2004).","journal-title":"J. Neurobiol."},{"key":"BFng2426_CR41","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1177\/002215549804600105","volume":"46","author":"N Sakaguchi","year":"1998","unstructured":"Sakaguchi, N., Henzl, M.T., Thalmann, I., Thalmann, R. & Schulte, B.A. Oncomodulin is expressed exclusively by outer hair cells in the organ of Corti. J. Histochem. Cytochem. 46, 29\u201340 (1998).","journal-title":"J. Histochem. Cytochem."},{"key":"BFng2426_CR42","doi-asserted-by":"crossref","first-page":"4577","DOI":"10.1523\/JNEUROSCI.23-11-04577.2003","volume":"23","author":"CM Hackney","year":"2003","unstructured":"Hackney, C.M., Mahendrasingam, S., Jones, E.M. & Fettiplace, R. The distribution of calcium buffering proteins in the turtle cochlea. J. Neurosci. 23, 4577\u20134589 (2003).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR43","doi-asserted-by":"crossref","first-page":"5066","DOI":"10.1523\/JNEUROSCI.21-14-05066.2001","volume":"21","author":"RA Dumont","year":"2001","unstructured":"Dumont, R.A. et al. Plasma membrane Ca2+-ATPase isoform 2a is the PMCA of hair bundles. J. Neurosci. 21, 5066\u20135078 (2001).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR44","doi-asserted-by":"crossref","first-page":"6172","DOI":"10.1523\/JNEUROSCI.0447-06.2006","volume":"26","author":"JK Hill","year":"2006","unstructured":"Hill, J.K. et al. Splice-site A choice targets plasma-membrane Ca2+-ATPase isoform 2 to hair bundles. J. Neurosci. 26, 6172\u20136180 (2006).","journal-title":"J. Neurosci."},{"key":"BFng2426_CR45","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuroscience.2006.03.036","volume":"141","author":"RS Silverstein","year":"2006","unstructured":"Silverstein, R.S. & Tempel, B.L. Atp2b2, encoding plasma membrane Ca2+-ATPase type 2, (PMCA2) exhibits tissue-specific first exon usage in hair cells, neurons, and mammary glands of mice. Neuroscience 141, 245\u2013257 (2006).","journal-title":"Neuroscience"},{"key":"BFng2426_CR46","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/1284","volume":"19","author":"VA Street","year":"1998","unstructured":"Street, V.A., McKee-Johnson, J.W., Fonseca, R.C., Tempel, B.L. & Noben-Trauth, K. Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice. Nat. Genet. 19, 390\u2013394 (1998).","journal-title":"Nat. Genet."},{"key":"BFng2426_CR47","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S0165-0270(02)00125-5","volume":"118","author":"SM Jones","year":"2002","unstructured":"Jones, S.M. et al. Stimulus and recording variables and their effects on mammalian vestibular evoked potentials. J. Neurosci. Methods 118, 23\u201331 (2002).","journal-title":"J. Neurosci. Methods"},{"key":"BFng2426_CR48","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1038\/ng2049","volume":"39","author":"VR Chintapalli","year":"2007","unstructured":"Chintapalli, V.R., Wang, J. & Dow, J.A. Using FlyAtlas to identify better Drosophila melanogaster models of human disease. Nat. Genet. 39, 715\u2013720 (2007).","journal-title":"Nat. Genet."},{"key":"BFng2426_CR49","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/978-1-4615-0121-3_30","volume":"514","author":"JE O'Tousa","year":"2002","unstructured":"O'Tousa, J.E. Ca2+ regulation of Drosophila phototransduction. Adv. Exp. Med. Biol. 514, 493\u2013505 (2002).","journal-title":"Adv. Exp. Med. Biol."},{"key":"BFng2426_CR50","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1007\/s00424-007-0251-1","volume":"454","author":"T Wang","year":"2007","unstructured":"Wang, T. & Montell, C. Phototransduction and retinal degeneration in. Drosophila. Pflugers Arch. 454, 821\u2013847 (2007).","journal-title":"Drosophila. Pflugers Arch."},{"key":"BFng2426_CR51","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1016\/j.cub.2005.05.058","volume":"15","author":"Y Gu","year":"2005","unstructured":"Gu, Y., Oberwinkler, J., Postma, M. & Hardie, R.C. Mechanisms of light adaptation in Drosophila photoreceptors. Curr. Biol. 15, 1228\u20131234 (2005).","journal-title":"Curr. Biol."},{"key":"BFng2426_CR52","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0896-6273(00)80455-9","volume":"20","author":"T Nicolson","year":"1998","unstructured":"Nicolson, T. et al. Genetic analysis of vertebrate sensory hair cell mechanosensation: the zebrafish circler mutants. Neuron 20, 271\u2013283 (1998).","journal-title":"Neuron"},{"key":"BFng2426_CR53","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1086\/510022","volume":"79","author":"S Riazuddin","year":"2006","unstructured":"Riazuddin, S. et al. Tricellulin is a tight-junction protein necessary for hearing. Am. J. Hum. Genet. 79, 1040\u20131051 (2006).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2426_CR54","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/bioinformatics\/bti770","volume":"22","author":"K Arnold","year":"2006","unstructured":"Arnold, K., Bordoli, L., Kopp, J. & Schwede, T. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22, 195\u2013201 (2006).","journal-title":"Bioinformatics"},{"key":"BFng2426_CR55","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","volume":"11","author":"H Venselaar","year":"2010","unstructured":"Venselaar, H., Te Beek, T.A., Kuipers, R.K., Hekkelman, M.L. & Vriend, G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics 11, 548 (2010).","journal-title":"BMC Bioinformatics"},{"key":"BFng2426_CR56","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/978-1-59745-523-7_7","volume":"493","author":"IA Belyantseva","year":"2009","unstructured":"Belyantseva, I.A. Helios Gene Gun\u2013mediated transfection of the inner ear sensory epithelium. Methods Mol. Biol. 493, 103\u2013123 (2009).","journal-title":"Methods Mol. Biol."},{"key":"BFng2426_CR57","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/79951","volume":"26","author":"A Nasevicius","year":"2000","unstructured":"Nasevicius, A. & Ekker, S.C. Effective targeted gene 'knockdown' in zebrafish. Nat. Genet. 26, 216\u2013220 (2000).","journal-title":"Nat. Genet."},{"key":"BFng2426_CR58","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1126\/science.1084370","volume":"301","author":"S Sidi","year":"2003","unstructured":"Sidi, S., Friedrich, R.W. & Nicolson, T. NompC TRP channel required for vertebrate sensory hair cell mechanotransduction. Science 301, 96\u201399 (2003).","journal-title":"Science"},{"key":"BFng2426_CR59","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/nature05954","volume":"448","author":"G Dietzl","year":"2007","unstructured":"Dietzl, G. et al. A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila. Nature 448, 151\u2013156 (2007).","journal-title":"Nature"},{"key":"BFng2426_CR60","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/S1046-2023(03)00051-3","volume":"30","author":"YS Lee","year":"2003","unstructured":"Lee, Y.S. & Carthew, R.W. Making a better RNAi vector for Drosophila: use of intron spacers. Methods 30, 322\u2013329 (2003).","journal-title":"Methods"},{"key":"BFng2426_CR61","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0092-8674(03)00848-1","volume":"115","author":"MF Wernet","year":"2003","unstructured":"Wernet, M.F. et al. Homothorax switches function of Drosophila photoreceptors from color to polarized light sensors. Cell 115, 267\u2013279 (2003).","journal-title":"Cell"},{"key":"BFng2426_CR62","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1242\/dev.128.6.815","volume":"128","author":"F Pichaud","year":"2001","unstructured":"Pichaud, F. & Desplan, C. A new visualization approach for identifying mutations that affect differentiation and organization of the Drosophila ommatidia. Development 128, 815\u2013826 (2001).","journal-title":"Development"},{"key":"BFng2426_CR63","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1749-8104-6-20","volume":"6","author":"M Charlton-Perkins","year":"2011","unstructured":"Charlton-Perkins, M. et al. Prospero and Pax2 combinatorially control neural cell fate decisions by modulating Ras- and Notch-dependent signaling. Neural Dev. 6, 20 (2011).","journal-title":"Neural Dev."}],"updated-by":[{"DOI":"10.1038\/s41588-025-02332-w","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T00:00:00Z","timestamp":1756166400000}}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/ng.2426.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/ng.2426","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/ng.2426.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T09:00:46Z","timestamp":1756198846000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.2426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,30]]},"references-count":63,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["BFng2426"],"URL":"https:\/\/doi.org\/10.1038\/ng.2426","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,30]]},"assertion":[{"value":"26 April 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 September 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2025","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1038\/s41588-025-02332-w","URL":"https:\/\/doi.org\/10.1038\/s41588-025-02332-w","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}