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The Mueller Laboratory

Mouse Mutants with Auditory Impairment: Publications

Schwander, S., Lopez, V., Sczaniecka, A., Gibbs, D., Lillo, C., Delano, D., Tarantino, L.M., Wiltshire, T., Williams, D., and Müller, U. (2009) A Novel Allele of Myosin VIIa Reveals a Critical Function for the C-terminal FERM Domain for melanosome transport in retinal pigment epithelial cells. J. Neurosci. in press

Grillet, N., and Müller, U. (2009). Genetics of progressive hearing loss: a link between hearing impairment and dysfunction of mechanosensory hair cells. Future Neurology 5

Grillet, N., Schwander, M., Hildebrand, M.S., Sczaniecka, A., Kolatkar, A., Velasco, J., Webster, J.A., Kahrizi, K., Najmabadi, H., Kimberling, W.J., Stephan, D., Bahlo, M., Wiltshire, T., Tarantino, L.M., Kuhn, P., Smith, R.J., Müller, U. (2009). Mutations in LOXHD1, an evolutionarily conserved stereociliar protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am. J. Hum Genet. 85, 328-337.

Schwander, M., Xiong, W., Tokita, J., Lelli, A, Elledge, H.M., Kazmierczak, P., Sczaniecka, A., Kolotkar, A., Wiltshire, T., Kuhn, P., Holt, J.R., Kachar, B., Tarantino, L., and Müller, U. (2009). A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc. Natl. Acad. Sci, USA 106, 375-387.

Du X., Schwander, M., Moresco E.M., Viviani, P., Haller, C., Hildebrand, M.S., Pak, K., Tarantion, L, Roberts A., Richardson, H., Koob, G., Najmabadi, H., Ryan, A.F., Smith, R.J., Müller, U., and Beutler, B. (2008) A catechol-O-methyltranferas that is essential for auditory function in mice and humans. Proc. Natl. Acad. Sci, USA 105, 14609-14614.

Herr, D., Grillet, N., Schwander, M., Rivera, R., Müller, U., and Chun, J. (2007). Sphingosine 1-phosphate signaling is required for maintenance of hair cells largely via activation of S12. J. Neurosci. 27, 1474-1478.

Schwander, M., Sczaniecka, A., Grillet, N., Bailey, J.S., Avenarius, M., Najmabadi, H., Steffy, B.M., Federe, G.C., Lagler, E.A., Banan, R., Hice, R., Grabowski, L., Keithley, E.M., Ryan, A.F., Housley, G.D., Wiltshire, T., Smith, R.J.H., Tarantino, L.M., and Müller, U. (2007). A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals that Pejvakin is Essential for Outer Hair Cell Function. J. Neurosci. 27, 2163-2175.