-
2
-
-
0028803112
-
The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner hair cells
-
Avrahain, K.B., T. Hasson, K.P. Steel, D.M. Kingsley, L.B. Mooseker, M.S. Russell, N.G. Copeland, and N.A. Jenkins (1995): The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner hair cells. Nature Genet. 11:369-374.
-
(1995)
Nature Genet.
, vol.11
, pp. 369-374
-
-
Avrahain, K.B.1
Hasson, T.2
Steel, K.P.3
Kingsley, D.M.4
Mooseker, L.B.5
Russell, M.S.6
Copeland, N.G.7
Jenkins, N.A.8
-
3
-
-
0030587490
-
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B
-
Chen, Z.-Y., T. Hasson, P.M. Kelley, B.J. Schwender, M.F. Schwartz, M. Ramakrishnan, W.J. Kimberling, M.S. Mooseker, and Corey D.P. (1996): Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B. Genomics 36:440-448.
-
(1996)
Genomics
, vol.36
, pp. 440-448
-
-
Chen, Z.-Y.1
Hasson, T.2
Kelley, P.M.3
Schwender, B.J.4
Schwartz, M.F.5
Ramakrishnan, M.6
Kimberling, W.J.7
Mooseker, M.S.8
Corey, D.P.9
-
4
-
-
0029130240
-
Molecular analysis of Duchenne muscular dystrophy: Past, present and future
-
Davies, K.E., J.M. Tinsley, and D.J. lake (1995): Molecular analysis of Duchenne muscular dystrophy: Past, present and future. Ann. N.Y. Acad. Sci. 758:287-296.
-
(1995)
Ann. N.Y. Acad. Sci.
, vol.758
, pp. 287-296
-
-
Davies, K.E.1
Tinsley, J.M.2
Lake, D.J.3
-
5
-
-
0014960565
-
Usher's syndrome, with special reference to heterozygous manifestations
-
De Haas, E.B.H., G.H.M. Van Lith, J. Rijnders, A.M.L. Rümke, and Ch. Volmer (1970): Usher's syndrome, with special reference to heterozygous manifestations. Doc. Ophthalmol. 28:166-190.
-
(1970)
Doc. Ophthalmol.
, vol.28
, pp. 166-190
-
-
De Haas, E.B.H.1
Van Lith, G.H.M.2
Rijnders, J.3
Rümke, A.M.L.4
Volmer, Ch.5
-
6
-
-
0029084972
-
Genetic disorders of the red cell membranes
-
Delaunay, J. (1995): Genetic disorders of the red cell membranes. FEBS Lett. 369:34-37.
-
(1995)
FEBS Lett.
, vol.369
, pp. 34-37
-
-
Delaunay, J.1
-
7
-
-
0000870234
-
Anatomy and development of mutants pirouette, shaker-1 and waltzer in mouse
-
Deol, M.S. (1956): Anatomy and development of mutants pirouette, shaker-1 and waltzer in mouse. Proc. R. Soc. Biol. 145:206-213.
-
(1956)
Proc. R. Soc. Biol.
, vol.145
, pp. 206-213
-
-
Deol, M.S.1
-
8
-
-
0029794058
-
Human Usher 1b/mouse shaker-1: The retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells
-
El-Amraoui, A., I. Sahly, S. Picaud, J. Sahel, M. Abitbol, and C. Petit (1996): Human Usher 1b/mouse shaker-1: The retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum. Mol. Genet. 5:1171-1178.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1171-1178
-
-
El-Amraoui, A.1
Sahly, I.2
Picaud, S.3
Sahel, J.4
Abitbol, M.5
Petit, C.6
-
9
-
-
0027068050
-
Primary structure and localization of chicken brain myosin-V (p190), an unconventional myosin with calmodulin light chains
-
Espreafico, E.M., R.E. Cheney, M. Matteoli, A.A.C. Nascimento, P.V. De Camilli, R.E. Larson, and M.S. Mooseker (1992): Primary structure and localization of chicken brain myosin-V (p190), an unconventional myosin with calmodulin light chains. J. Cell Biol. 119:1541-1557.
-
(1992)
J. Cell Biol.
, vol.119
, pp. 1541-1557
-
-
Espreafico, E.M.1
Cheney, R.E.2
Matteoli, M.3
Nascimento, A.A.C.4
De Camilli, P.V.5
Larson, R.E.6
Mooseker, M.S.7
-
10
-
-
0028860302
-
The shaker-1 mouse deafness mutation encodes a myosin-VII motor
-
Gibson, F., J. Walsh, P. Mburu, A. Varela, K.A. Brown, M. Antonio, K. Beisel, K.P. Steel, and S.D.M. Brown (1995): The shaker-1 mouse deafness mutation encodes a myosin-VII motor. Nature 374:62-64.
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
Varela, A.4
Brown, K.A.5
Antonio, M.6
Beisel, K.7
Steel, K.P.8
Brown, S.D.M.9
-
11
-
-
0027993176
-
Porcine myosin-VI: Characterization of a new mammalian unconventional myosin
-
Hasson, T., and M.S. Mooseker (1994): Porcine myosin-VI: Characterization of a new mammalian unconventional myosin. J. Cell Biol. 127:425-440.
-
(1994)
J. Cell Biol.
, vol.127
, pp. 425-440
-
-
Hasson, T.1
Mooseker, M.S.2
-
12
-
-
0028787263
-
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B
-
Hasson, T., M.B. Heintzelman, J. Santos-Sacchi, D.P. Corey, and M.S. Mooseker (1995): Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc. Natl. Acad. Sci. USA 92:9815-9819.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 9815-9819
-
-
Hasson, T.1
Heintzelman, M.B.2
Santos-Sacchi, J.3
Corey, D.P.4
Mooseker, M.S.5
-
13
-
-
0030587438
-
Mapping of unconventional myosins in mouse and human
-
Hasson, T., J.F. Skowron, D.J. Gilbert, K.B. Avraham, W.L. Perry, W.M. Bement, B.L. Anderson, E.H. Sherr, L.A. Greene, D.C. Ward, D.P. Corey, M.S. Mooseker, N.G. Copeland, and N.A. Jenkins (1996): Mapping of unconventional myosins in mouse and human. Genomics 36:431-439.
-
(1996)
Genomics
, vol.36
, pp. 431-439
-
-
Hasson, T.1
Skowron, J.F.2
Gilbert, D.J.3
Avraham, K.B.4
Perry, W.L.5
Bement, W.M.6
Anderson, B.L.7
Sherr, E.H.8
Greene, L.A.9
Ward, D.C.10
Corey, D.P.11
Mooseker, M.S.12
Copeland, N.G.13
Jenkins, N.A.14
-
14
-
-
0015421844
-
An evaluation of genetic carriers of Usher's syndrome
-
Holland, M.G., E. Cambie, and W. Kloepfer (1972): An evaluation of genetic carriers of Usher's syndrome. Am. J. Ophthalmol. 74:940-947.
-
(1972)
Am. J. Ophthalmol.
, vol.74
, pp. 940-947
-
-
Holland, M.G.1
Cambie, E.2
Kloepfer, W.3
-
15
-
-
0024433313
-
How the ear's works works
-
Hudspeth, A.J. (1989): How the ear's works works. Nature 341:397-404.
-
(1989)
Nature
, vol.341
, pp. 397-404
-
-
Hudspeth, A.J.1
-
16
-
-
0022618089
-
Abnormal sperm and photoreceptor axonemes in Usher's syndrome
-
Hunter, D.G., G.A. Fishman, R.S. Mehta, and F.L. Kretzer (1986): Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch. Opthalmol. 104:385-389.
-
(1986)
Arch. Opthalmol.
, vol.104
, pp. 385-389
-
-
Hunter, D.G.1
Fishman, G.A.2
Mehta, R.S.3
Kretzer, F.L.4
-
17
-
-
0000809917
-
The defective organ of corti in shaker-1 mice
-
Kikuchi, K., and Hilding, D.A. (1965): The defective organ of corti in shaker-1 mice. Acta Otolaryngol. 60:287-303.
-
(1965)
Acta Otolaryngol.
, vol.60
, pp. 287-303
-
-
Kikuchi, K.1
Hilding, D.A.2
-
18
-
-
0028694934
-
Analysis of gene expression by northern blot
-
Krumlauf, R. (1994): Analysis of gene expression by northern blot. Mol. Biotechnol. 2:227-242.
-
(1994)
Mol. Biotechnol.
, vol.2
, pp. 227-242
-
-
Krumlauf, R.1
-
20
-
-
0030805901
-
Identification of a new mutation of the myosin VII head region in Usher syndrome type 1
-
in press
-
Liu, X.-Z., V.E. Newton, K.P. Steel, and S.D.M. Brown (1997): Identification of a new mutation of the myosin VII head region in Usher syndrome type 1. Hum. Mutat. 8:(in press).
-
(1997)
Hum. Mutat.
, vol.8
-
-
Liu, X.-Z.1
Newton, V.E.2
Steel, K.P.3
Brown, S.D.M.4
-
21
-
-
0025967015
-
Novel myosin heavy chain encoded by murine dilute coat colour locus
-
Mercer, J.A., P.K. Seperack, M.C. Strobel, N.G. Copeland, and N.A. Jenkins (1991): Novel myosin heavy chain encoded by murine dilute coat colour locus. Nature 349:709-713.
-
(1991)
Nature
, vol.349
, pp. 709-713
-
-
Mercer, J.A.1
Seperack, P.K.2
Strobel, M.C.3
Copeland, N.G.4
Jenkins, N.A.5
-
22
-
-
0026507918
-
Audiometric detection of carriers of Usher's syndrome type II
-
Meredith, R., D. Stephens, T. Sirimanna, C. Meyer-Bisch, and W. Reardon (1992) Audiometric detection of carriers of Usher's syndrome type II. J. Audiol. Med. 1:11-19.
-
(1992)
J. Audiol. Med.
, vol.1
, pp. 11-19
-
-
Meredith, R.1
Stephens, D.2
Sirimanna, T.3
Meyer-Bisch, C.4
Reardon, W.5
-
23
-
-
0007939990
-
Hearing degeneration in shaker-1 mouse
-
Mikaelian, D.O., and R.J. Ruben (1964): Hearing degeneration in shaker-1 mouse. Arch. Otolaryngol. 80:418-430.
-
(1964)
Arch. Otolaryngol.
, vol.80
, pp. 418-430
-
-
Mikaelian, D.O.1
Ruben, R.J.2
-
25
-
-
0026530109
-
Mechanoelectrical transduction by hair cells
-
Pickles, J.O., and D.P. Corey (1992): Mechanoelectrical transduction by hair cells. Trends Neurosci. 15:254-259.
-
(1992)
Trends Neurosci.
, vol.15
, pp. 254-259
-
-
Pickles, J.O.1
Corey, D.P.2
-
26
-
-
15844400653
-
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
-
Poetter, K., H. Jiang, S. Hassanzadeh, S.R. Master, A. Chang, M.C. Dalakas, I. Rayment, J.R. Sellers, L. Fananapazir, and Epstein N.D. (1996) Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nature Genet. 13:63-69.
-
(1996)
Nature Genet.
, vol.13
, pp. 63-69
-
-
Poetter, K.1
Jiang, H.2
Hassanzadeh, S.3
Master, S.R.4
Chang, A.5
Dalakas, M.C.6
Rayment, I.7
Sellers, J.R.8
Fananapazir, L.9
Epstein, N.D.10
-
27
-
-
0027194702
-
Three-dimensional structure of myosin subfragment-1: A molecular motor
-
Rayment, I., W.R. Rypniewski, K. Schmidt-Base, R. Smith, D.R. Tomchick, M.M. Benning, D.A. Winkelman, G. Wesenberg, and H.M. Holden (1993): Three-dimensional structure of myosin subfragment-1: A molecular motor. Science 261:50-58.
-
(1993)
Science
, vol.261
, pp. 50-58
-
-
Rayment, I.1
Rypniewski, W.R.2
Schmidt-Base, K.3
Smith, R.4
Tomchick, D.R.5
Benning, M.M.6
Winkelman, D.A.7
Wesenberg, G.8
Holden, H.M.9
-
28
-
-
0029024879
-
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
-
Rayment, I., H.M. Holden, J.R. Sellers, L. Fananapazir, and N.D. Epstein (1995): Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc. Natl. Acad. Sci. USA 92:3864-3868.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 3864-3868
-
-
Rayment, I.1
Holden, H.M.2
Sellers, J.R.3
Fananapazir, L.4
Epstein, N.D.5
-
29
-
-
0025095309
-
A strategy for fine-structure functional analysis of a 6- To 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis
-
Rinchik, E.M., D.A. Carpenter, and P.B. Selby (1990): A strategy for fine-structure functional analysis of a 6-to 11-centimorgan region of mouse chromosome 7 by high-efficiency mutagenesis. Proc. Natl. Acad. Sci. USA 87:896-900.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 896-900
-
-
Rinchik, E.M.1
Carpenter, D.A.2
Selby, P.B.3
-
30
-
-
0017709496
-
Observations on rat sertoli ectoplasmic ("junctional") specializations in their association with germ cells of the rat testis
-
Russell, L. (1977): Observations on rat sertoli ectoplasmic ("junctional") specializations in their association with germ cells of the rat testis. Tissue Cell 9:475-498.
-
(1977)
Tissue Cell
, vol.9
, pp. 475-498
-
-
Russell, L.1
-
31
-
-
0001850991
-
Dilute and Leaden, the p-Locus, Ruby-eye, and Ruby-Eye-2
-
Silvers, W.K. (ed.): New York: Springer-Verlag
-
Silvers, W.K. (1979): Dilute and Leaden, the p-Locus, Ruby-eye, and Ruby-Eye-2. In Silvers, W.K. (ed.): "Coat Colors of Mice: A Model for Mammalian Gene Action and Interaction" New York: Springer-Verlag, pp. 83-89.
-
(1979)
Coat Colors of Mice: A Model for Mammalian Gene Action and Interaction
, pp. 83-89
-
-
Silvers, W.K.1
-
32
-
-
49049127142
-
The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: Ultrastructural observations
-
Schnerson, A., M. Lenoir, T.R. Van de Water, and R. Pujol (1983): The pattern of sensorineural degeneration in the cochlea of the deaf shaker-1 mouse: Ultrastructural observations. Dev. Brain Res. 9:305-315.
-
(1983)
Dev. Brain Res.
, vol.9
, pp. 305-315
-
-
Schnerson, A.1
Lenoir, M.2
Van De Water, T.R.3
Pujol, R.4
-
33
-
-
0018426682
-
Dark adaptation testing in heterozygotes of Usher's syndrome
-
Sondheimer, S., G.A. Fishman, R.S. Young, and V.A. Vasquez (1979) Dark adaptation testing in heterozygotes of Usher's syndrome. Br. J. Ophthalmol. 63:547-550.
-
(1979)
Br. J. Ophthalmol.
, vol.63
, pp. 547-550
-
-
Sondheimer, S.1
Fishman, G.A.2
Young, R.S.3
Vasquez, V.A.4
-
34
-
-
0030046902
-
Contractile protein mutations and heart disease
-
Vikstrom, K.L., and L.A. Leinwand (1996): Contractile protein mutations and heart disease. Curr. Opin. Cell Biol. 8:97-105.
-
(1996)
Curr. Opin. Cell Biol.
, vol.8
, pp. 97-105
-
-
Vikstrom, K.L.1
Leinwand, L.A.2
-
35
-
-
0028815440
-
Defective myosin-VIIA gene responsible for Usher syndrome type 1B
-
Weil, D., S. Blanchard, J. Kaplan, P. Guilford, F. Gibson, J. Walsh, P. Mburu, A. Valera, J. Levilliers, M.D. Weston, P.M. Kelley, F. Levi-Acobas, D. Larget-Piel, A. Munnich, K.P. Sleel, W.J. Kimberling, S.D.M. Brown, and C. Petit (1995): Defective myosin-VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
Guilford, P.4
Gibson, F.5
Walsh, J.6
Mburu, P.7
Valera, A.8
Levilliers, J.9
Weston, M.D.10
Kelley, P.M.11
Levi-Acobas, F.12
Larget-Piel, D.13
Munnich, A.14
Sleel, K.P.15
Kimberling, W.J.16
Brown, S.D.M.17
Petit, C.18
-
36
-
-
9244233852
-
Human myosin VIIa responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
-
Weil, D., G. Levy, I. Sahly, F. Levi-Acobas, S. Blanchard, El-A. Amraoui, F. Crozet, H. Philippe, M. Abitbol, and C. Petit (1996): Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia. Proc. Natl. Acad. Sci. USA 93:3232-3237.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 3232-3237
-
-
Weil, D.1
Levy, G.2
Sahly, I.3
Levi-Acobas, F.4
Blanchard, S.5
Amraoui, E.-A.6
Crozet, F.7
Philippe, H.8
Abitbol, M.9
Petit, C.10
-
37
-
-
19244362118
-
Myosin VIIA mutation screening in 189 Usher syndrome Type 1 patients
-
Weston, M.D., P.M. Kelley, L.D. Overbeck, M. Wagenaar, D.J. Orten, T. Hasson, Z.-Y. Chen, D. Corey, M. Mooseker, J. Sumegi, C. Cremers, C. Möller, S.G. Jacobsen, M.B. Gorin, and W.J. Kimberling (1996): Myosin VIIA mutation screening in 189 Usher syndrome Type 1 patients. Am. J. Hum. Genet. 59:1074-1083.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1074-1083
-
-
Weston, M.D.1
Kelley, P.M.2
Overbeck, L.D.3
Wagenaar, M.4
Orten, D.J.5
Hasson, T.6
Chen, Z.-Y.7
Corey, D.8
Mooseker, M.9
Sumegi, J.10
Cremers, C.11
Möller, C.12
Jacobsen, S.G.13
Gorin, M.B.14
Kimberling, W.J.15
|