-
1
-
-
0035775666
-
Usher syndrome: From genetics to pathogenesis
-
Petit, C. (2001) Usher syndrome: From genetics to pathogenesis. Annu. Rev. Genomics Hum. Genet., 2, 271-297.
-
(2001)
Annu. Rev. Genomics Hum. Genet
, vol.2
, pp. 271-297
-
-
Petit, C.1
-
2
-
-
33749019339
-
Usher syndrome: Molecular links of pathogenesis, proteins and pathways
-
Spec
-
Kremer, H., van Wijk, E., Marker, T., Wolfrum, U. and Roepman, R. (2006) Usher syndrome: Molecular links of pathogenesis, proteins and pathways. Hum. Mol. Genet., 15 (Spec no. 2), R262-R270.
-
(2006)
Hum. Mol. Genet
, vol.15
, Issue.2
-
-
Kremer, H.1
van Wijk, E.2
Marker, T.3
Wolfrum, U.4
Roepman, R.5
-
3
-
-
33646856845
-
Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
-
Reiners, J., Nagel-Wolfrum, K., Jurgens, K., Marker, T. and Wolfrum, U. (2006) 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, 97-119.
-
(2006)
Exp. Eye. Res
, vol.83
, pp. 97-119
-
-
Reiners, J.1
Nagel-Wolfrum, K.2
Jurgens, K.3
Marker, T.4
Wolfrum, U.5
-
4
-
-
0036021030
-
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
-
Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C. et al. (2002) USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur. J. Hum. Genet., 10, 339-350.
-
(2002)
Eur. J. Hum. Genet
, vol.10
, pp. 339-350
-
-
Adato, A.1
Vreugde, S.2
Joensuu, T.3
Avidan, N.4
Hamalainen, R.5
Belenkiy, O.6
Olender, T.7
Bonne-Tamir, B.8
Ben-Asher, E.9
Espinos, C.10
-
5
-
-
0344708475
-
Tetraspanin proteins mediate cellular penetration, invasion, and fusion events and define a novel type of membrane microdomain
-
Hemler, M.E. (2003) Tetraspanin proteins mediate cellular penetration, invasion, and fusion events and define a novel type of membrane microdomain. Annu. Rev. Cell. Dev. Biol., 19, 397-422.
-
(2003)
Annu. Rev. Cell. Dev. Biol
, vol.19
, pp. 397-422
-
-
Hemler, M.E.1
-
6
-
-
28444441957
-
Tetraspanin functions and associated microdomains
-
Hemler, M.E. (2005) Tetraspanin functions and associated microdomains. Nat. Rev. Mol. Cell. Biol., 6, 801-811.
-
(2005)
Nat. Rev. Mol. Cell. Biol
, vol.6
, pp. 801-811
-
-
Hemler, M.E.1
-
7
-
-
0036191591
-
Tetraspan vesicle membrane proteins: Synthesis, subcellular localization, and functional properties
-
Hubner, K., Windoffer, R., Hutter, H. and Leube, R.E. (2002) Tetraspan vesicle membrane proteins: Synthesis, subcellular localization, and functional properties. Int. Rev. Cytol., 214, 103-159.
-
(2002)
Int. Rev. Cytol
, vol.214
, pp. 103-159
-
-
Hubner, K.1
Windoffer, R.2
Hutter, H.3
Leube, R.E.4
-
8
-
-
0034700490
-
Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms
-
Chen, L., Chetkovich, D.M., Petralia, R.S., Sweeney, N.T., Kawasaki, Y., Wenthold, R.J., Bredt, D.S. and Nicoll, R.A. (2000) Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms. Nature, 408, 936-943.
-
(2000)
Nature
, vol.408
, pp. 936-943
-
-
Chen, L.1
Chetkovich, D.M.2
Petralia, R.S.3
Sweeney, N.T.4
Kawasaki, Y.5
Wenthold, R.J.6
Bredt, D.S.7
Nicoll, R.A.8
-
9
-
-
0035159856
-
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
-
Alagramam, K.N., Murcia, C.L., Kwon, H.Y., Pawlowski, K.S., Wright, C.G. and Woychik, R.P. (2001) The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat. Genet. 27, 99-102.
-
(2001)
Nat. Genet
, vol.27
, pp. 99-102
-
-
Alagramam, K.N.1
Murcia, C.L.2
Kwon, H.Y.3
Pawlowski, K.S.4
Wright, C.G.5
Woychik, R.P.6
-
10
-
-
0034307667
-
Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer
-
Alagramam, K.N., Zahorsky-Reeves, J., Wright, C.G., Pawlowski, K.S., Erway, L.C., Stubbs, L. and Woychik, R.P. (2000) Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer. Hear. Res., 148, 181-191.
-
(2000)
Hear. Res
, vol.148
, pp. 181-191
-
-
Alagramam, K.N.1
Zahorsky-Reeves, J.2
Wright, C.G.3
Pawlowski, K.S.4
Erway, L.C.5
Stubbs, L.6
Woychik, R.P.7
-
11
-
-
0028844110
-
Anatomical and physiological measures of auditory system in mice with peripheral myelin deficiency
-
Zhou, R., Assouline, J.G., Abbas, P.J., Messing, A. and Gantz, B.J. (1995) Anatomical and physiological measures of auditory system in mice with peripheral myelin deficiency. Hear. Res., 88, 87-97.
-
(1995)
Hear. Res
, vol.88
, pp. 87-97
-
-
Zhou, R.1
Assouline, J.G.2
Abbas, P.J.3
Messing, A.4
Gantz, B.J.5
-
12
-
-
33644989936
-
A quantitative survey of gravity receptor function in mutant mouse strains
-
Jones, S.M., Johnson, K.R., Yu, H., Erway, L.C., Alagramam, K.N., Pollak, N. and Jones, T.A. (2005) A quantitative survey of gravity receptor function in mutant mouse strains. J. Assoc. Res. Otolaryngol., 6, 297-310.
-
(2005)
J. Assoc. Res. Otolaryngol
, vol.6
, pp. 297-310
-
-
Jones, S.M.1
Johnson, K.R.2
Yu, H.3
Erway, L.C.4
Alagramam, K.N.5
Pollak, N.6
Jones, T.A.7
-
13
-
-
0038516485
-
Usher syndrome type III can mimic other types of Usher syndrome
-
Pennings, R.J., Fields, R.R., Huygen, P.L., Deutman, A.F., Kimberling, W.J. and Cremers, C.W. (2003) Usher syndrome type III can mimic other types of Usher syndrome. Ann. Otol. Rhinol. Laryngol., 112, 525-530.
-
(2003)
Ann. Otol. Rhinol. Laryngol
, vol.112
, pp. 525-530
-
-
Pennings, R.J.1
Fields, R.R.2
Huygen, P.L.3
Deutman, A.F.4
Kimberling, W.J.5
Cremers, C.W.6
-
14
-
-
0142209180
-
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
-
Ness, S.L., Ben-Yosef, T., Bar-Lev, A., Madeo, A.C., Brewer, C.C., Avraham, K.B., Kornreich, R., Desnick, R.J., Willner, J.P., Friedman, T.B. et al. (2003) Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J. Med. Genet., 40, 767-772.
-
(2003)
J. Med. Genet
, vol.40
, pp. 767-772
-
-
Ness, S.L.1
Ben-Yosef, T.2
Bar-Lev, A.3
Madeo, A.C.4
Brewer, C.C.5
Avraham, K.B.6
Kornreich, R.7
Desnick, R.J.8
Willner, J.P.9
Friedman, T.B.10
-
15
-
-
36048930860
-
Development of the hair bundle and mechanotransduction
-
Nayak, G.D., Ratnayaka, H.S., Goodyear, R.J. and Richardson, G.P. (2007) Development of the hair bundle and mechanotransduction. Int. J. Dev. Biol., 51, 597-608.
-
(2007)
Int. J. Dev. Biol
, vol.51
, pp. 597-608
-
-
Nayak, G.D.1
Ratnayaka, H.S.2
Goodyear, R.J.3
Richardson, G.P.4
-
16
-
-
10944252852
-
Developmental acquisition of voltage-dependent conductances and sensory signaling in hair cells of the embryonic mouse inner ear
-
Geleoc, G.S., Risner, J.R. and Holt, J.R. (2004) Developmental acquisition of voltage-dependent conductances and sensory signaling in hair cells of the embryonic mouse inner ear. J. Neurosci., 24 11148-11159.
-
(2004)
J. Neurosci
, vol.24
, pp. 11148-11159
-
-
Geleoc, G.S.1
Risner, J.R.2
Holt, J.R.3
-
17
-
-
40849106619
-
Quiet as a mouse: Dissecting the molecular and genetic basis of hearing
-
Brown, S.D., Hardisty-Hughes, R.E. and Mburu, P. (2008) Quiet as a mouse: Dissecting the molecular and genetic basis of hearing. Nat. Rev. Genet., 9, 277-290.
-
(2008)
Nat. Rev. Genet
, vol.9
, pp. 277-290
-
-
Brown, S.D.1
Hardisty-Hughes, R.E.2
Mburu, P.3
-
18
-
-
27844517356
-
Usher I syndrome: Unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
-
El-Amraoui, A. and Petit, C. (2005) Usher I syndrome: Unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J. Cell Sci., 118, 4593-4603.
-
(2005)
J. Cell Sci
, vol.118
, pp. 4593-4603
-
-
El-Amraoui, A.1
Petit, C.2
-
19
-
-
44449102085
-
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth
-
Lefevre, G., Michel, V., Weil, D., Lepelletier, L., Bizard, E., Wolfrum, U., Hardelin, J.P. and Petit, C. (2008) A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development, 135 1427-1437.
-
(2008)
Development
, vol.135
, pp. 1427-1437
-
-
Lefevre, G.1
Michel, V.2
Weil, D.3
Lepelletier, L.4
Bizard, E.5
Wolfrum, U.6
Hardelin, J.P.7
Petit, C.8
-
20
-
-
41949137272
-
Development of outer hair cells in Ames waltzer mice: Mutation in protocadherin 15 affects development of cuticular plate and associated structures
-
Kikkawa, Y.S., Pawlowski, K.S., Wright, C.G. and Alagramam, K.N. (2008) Development of outer hair cells in Ames waltzer mice: Mutation in protocadherin 15 affects development of cuticular plate and associated structures. Anat. Rec. (Hoboken), 291, 224-232.
-
(2008)
Anat. Rec. (Hoboken)
, vol.291
, pp. 224-232
-
-
Kikkawa, Y.S.1
Pawlowski, K.S.2
Wright, C.G.3
Alagramam, K.N.4
-
21
-
-
33744501527
-
Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development
-
Pawlowski, K.S., Kikkawa, Y.S., Wright, C.G. and Alagramam, K.N. (2006) Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development. J. Assoc. Res. Otolaryngol., 7, 83-94.
-
(2006)
J. Assoc. Res. Otolaryngol
, vol.7
, pp. 83-94
-
-
Pawlowski, K.S.1
Kikkawa, Y.S.2
Wright, C.G.3
Alagramam, K.N.4
-
22
-
-
34248353947
-
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
-
Liu, X., Bulgakov, O.V., Darrow, K.N., Pawlyk, B., Adamian, M., Liberman, M.C. and Li, T. (2007) Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc. Natl. Acad. Sci. USA, 104, 4413-4418.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 4413-4418
-
-
Liu, X.1
Bulgakov, O.V.2
Darrow, K.N.3
Pawlyk, B.4
Adamian, M.5
Liberman, M.C.6
Li, T.7
-
23
-
-
0043168114
-
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
-
Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R.H., Rump, A., Hardisty, R.E., Blanchard, S., Coimbra, R.S. et al. (2003) Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat. Genet., 34, 421-428.
-
(2003)
Nat. Genet
, vol.34
, pp. 421-428
-
-
Mburu, P.1
Mustapha, M.2
Varela, A.3
Weil, D.4
El-Amraoui, A.5
Holme, R.H.6
Rump, A.7
Hardisty, R.E.8
Blanchard, S.9
Coimbra, R.S.10
-
24
-
-
33745787321
-
The very large G-protein-coupled receptor VLGR1: A component of the ankle link complex required for the normal development of auditory hair bundles
-
McGee, J., Goodyear, R.J., McMillan, D.R., Stauffer, E.A., Holt, J.R., Locke, K.G., Birch, D.G., Legan, P.K., White, P.C., Walsh, E.J. et al. (2006) The very large G-protein-coupled receptor VLGR1: A component of the ankle link complex required for the normal development of auditory hair bundles. J. Neurosci., 26, 6543-6553.
-
(2006)
J. Neurosci
, vol.26
, pp. 6543-6553
-
-
McGee, J.1
Goodyear, R.J.2
McMillan, D.R.3
Stauffer, E.A.4
Holt, J.R.5
Locke, K.G.6
Birch, D.G.7
Legan, P.K.8
White, P.C.9
Walsh, E.J.10
-
25
-
-
37549042393
-
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
-
Maerker, T., van Wijk, E., Overlack, N., Kersten, F.F., McGee, J., Goldmann, T., Sehn, E., Roepman, R., Walsh, E.J., Kremer, H. et al. (2008) A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum. Mol. Genet., 17, 71-86.
-
(2008)
Hum. Mol. Genet
, vol.17
, pp. 71-86
-
-
Maerker, T.1
van Wijk, E.2
Overlack, N.3
Kersten, F.F.4
McGee, J.5
Goldmann, T.6
Sehn, E.7
Roepman, R.8
Walsh, E.J.9
Kremer, H.10
-
26
-
-
0033365218
-
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance
-
Adato, A., Kalinski, H., Weil, D., Chaib, H., Korostishevsky, M. and Bonne-Tamir, B. (1999) Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am. J. Hum. Genet., 65, 261-265.
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 261-265
-
-
Adato, A.1
Kalinski, H.2
Weil, D.3
Chaib, H.4
Korostishevsky, M.5
Bonne-Tamir, B.6
-
27
-
-
12244277402
-
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
-
Boeda, B., El-Amraoui, A., Bahloul, A., Goodyear, R., Daviet, L., Blanchard, S., Perfettini, I., Fath, K.R., Shorte, S., Reiners, J. et al. (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. Embo J., 21, 6689-6699.
-
(2002)
Embo J
, vol.21
, pp. 6689-6699
-
-
Boeda, B.1
El-Amraoui, A.2
Bahloul, A.3
Goodyear, R.4
Daviet, L.5
Blanchard, S.6
Perfettini, I.7
Fath, K.R.8
Shorte, S.9
Reiners, J.10
-
28
-
-
13544276525
-
Interactions in the network of Usher syndrome type 1 proteins
-
Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K.N., Weil, D., Yonekawa, H., Wolfrum, U., El-Amraoui, A. and Petit, C. (2005) Interactions in the network of Usher syndrome type 1 proteins. Hum. Mol. Genet., 14, 347-356.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 347-356
-
-
Adato, A.1
Michel, V.2
Kikkawa, Y.3
Reiners, J.4
Alagramam, K.N.5
Weil, D.6
Yonekawa, H.7
Wolfrum, U.8
El-Amraoui, A.9
Petit, C.10
-
29
-
-
0033190946
-
Simplified generation of targeting constructs using ET recombination
-
Angrand, P.O., Daigle, N., van der Hoeven, F., Scholer, H.R. and Stewart, A.F. (1999) Simplified generation of targeting constructs using ET recombination. Nucleic Acids Res., 27, e16.
-
(1999)
Nucleic Acids Res
, vol.27
-
-
Angrand, P.O.1
Daigle, N.2
van der Hoeven, F.3
Scholer, H.R.4
Stewart, A.F.5
-
30
-
-
21444437579
-
Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo
-
Maeda, A., Maeda, T., Imanishi, Y., Kuksa, V., Alekseev, A., Bronson, J.D., Zhang, H., Zhu, L., Sun, W., Saperstein, D.A. et al. (2005) Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo. J. Biol. Chem., 280, 18822-18832.
-
(2005)
J. Biol. Chem
, vol.280
, pp. 18822-18832
-
-
Maeda, A.1
Maeda, T.2
Imanishi, Y.3
Kuksa, V.4
Alekseev, A.5
Bronson, J.D.6
Zhang, H.7
Zhu, L.8
Sun, W.9
Saperstein, D.A.10
-
31
-
-
40049106361
-
A mouse model with postnatal endolymphatic hydrops and hearing loss
-
Megerian, C.A., Semaan, M.T., Aftab, S., Kisley, L.B., Zheng, Q.Y., Pawlowski, K.S., Wright, C.G. and Alagramam, K.N. (2008) A mouse model with postnatal endolymphatic hydrops and hearing loss. Hear. Res., 237, 90-105.
-
(2008)
Hear. Res
, vol.237
, pp. 90-105
-
-
Megerian, C.A.1
Semaan, M.T.2
Aftab, S.3
Kisley, L.B.4
Zheng, Q.Y.5
Pawlowski, K.S.6
Wright, C.G.7
Alagramam, K.N.8
-
32
-
-
0032703896
-
Age-related loss of distortion product otoacoustic emissions in four mouse strains
-
Jimenez, A.M., Stagner, B.B., Martin, G.K. and Lonsbury-Martin, B.L. (1999) Age-related loss of distortion product otoacoustic emissions in four mouse strains. Hear. Res., 138, 91-105.
-
(1999)
Hear. Res
, vol.138
, pp. 91-105
-
-
Jimenez, A.M.1
Stagner, B.B.2
Martin, G.K.3
Lonsbury-Martin, B.L.4
-
33
-
-
36048969151
-
Comparison of distortion product otoacoustic emissions in 28 inbred strains of mice
-
Martin, G.K., Vazquez, A.E., Jimenez, A.M., Stagner, B.B., Howard, M.A. and Lonsbury-Martin, B.L. (2007) Comparison of distortion product otoacoustic emissions in 28 inbred strains of mice. Hear. Res., 234, 59-72.
-
(2007)
Hear. Res
, vol.234
, pp. 59-72
-
-
Martin, G.K.1
Vazquez, A.E.2
Jimenez, A.M.3
Stagner, B.B.4
Howard, M.A.5
Lonsbury-Martin, B.L.6
-
34
-
-
1942517933
-
Gravity receptor function in mice with graded otoconial deficiencies
-
Jones, S.M., Erway, L.C., Johnson, K.R., Yu, H. and Jones, T.A. (2004) Gravity receptor function in mice with graded otoconial deficiencies. Hear. Res., 191, 34-40.
-
(2004)
Hear. Res
, vol.191
, pp. 34-40
-
-
Jones, S.M.1
Erway, L.C.2
Johnson, K.R.3
Yu, H.4
Jones, T.A.5
-
35
-
-
0032822530
-
Short latency compound action potentials from mammalian gravity receptor organs
-
Jones, T.A. and Jones, S.M. (1999) Short latency compound action potentials from mammalian gravity receptor organs. Hear. Res., 136, 75-85.
-
(1999)
Hear. Res
, vol.136
, pp. 75-85
-
-
Jones, T.A.1
Jones, S.M.2
-
36
-
-
0037199265
-
Stimulus and recording variables and their effects on mammalian vestibular evoked potentials
-
Jones, S.M., Subramanian, G., Avniel, W., Guo, Y., Burkard, R.F. and Jones, T.A. (2002) Stimulus and recording variables and their effects on mammalian vestibular evoked potentials. J. Neurosci. Methods, 118, 23-31.
-
(2002)
J. Neurosci. Methods
, vol.118
, pp. 23-31
-
-
Jones, S.M.1
Subramanian, G.2
Avniel, W.3
Guo, Y.4
Burkard, R.F.5
Jones, T.A.6
-
37
-
-
33846933074
-
Loss of Fgfr3 leads to excess hair cell development in the mouse organ of Corti
-
Hayashi, T., Cunningham, D. and Bermingham-McDonogh, O. (2007) Loss of Fgfr3 leads to excess hair cell development in the mouse organ of Corti. Dev. Dyn., 236, 525-533.
-
(2007)
Dev. Dyn
, vol.236
, pp. 525-533
-
-
Hayashi, T.1
Cunningham, D.2
Bermingham-McDonogh, O.3
|