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A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.
Schwander M, Xiong W, Tokita J, Lelli A, Elledge HM, Kazmierczak P, Sczaniecka A, Kolatkar A, Wiltshire T, Kuhn P, Holt JR, Kachar B, Tarantino L, Müller U. Schwander M, et al. Among authors: sczaniecka a. Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5252-7. doi: 10.1073/pnas.0900691106. Epub 2009 Mar 6. Proc Natl Acad Sci U S A. 2009. PMID: 19270079 Free PMC article.
Harmonin mutations cause mechanotransduction defects in cochlear hair cells.
Grillet N, Xiong W, Reynolds A, Kazmierczak P, Sato T, Lillo C, Dumont RA, Hintermann E, Sczaniecka A, Schwander M, Williams D, Kachar B, Gillespie PG, Müller U. Grillet N, et al. Among authors: sczaniecka a. Neuron. 2009 May 14;62(3):375-87. doi: 10.1016/j.neuron.2009.04.006. Neuron. 2009. PMID: 19447093 Free PMC article.
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.
Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Müller U. Schwander M, et al. Among authors: sczaniecka a. J Neurosci. 2007 Feb 28;27(9):2163-75. doi: 10.1523/JNEUROSCI.4975-06.2007. J Neurosci. 2007. PMID: 17329413 Free PMC article.
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, Smith RJ, Müller U. Grillet N, et al. Among authors: sczaniecka a. Am J Hum Genet. 2009 Sep;85(3):328-37. doi: 10.1016/j.ajhg.2009.07.017. Am J Hum Genet. 2009. PMID: 19732867 Free PMC article.