-
1
-
-
0030587490
-
Molecular cloning and domain structure of human myosin VIIa, the gene product defective in Usher syndrome IB
-
Chen Z, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishnan M, Kimberling WJ, et al (1996) Molecular cloning and domain structure of human myosin VIIa, the gene product defective in Usher syndrome IB. Genomics 36:440-448
-
(1996)
Genomics
, vol.36
, pp. 440-448
-
-
Chen, Z.1
Hasson, T.2
Kelley, P.M.3
Schwender, B.J.4
Schwartz, M.F.5
Ramakrishnan, M.6
Kimberling, W.J.7
-
2
-
-
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, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C (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
-
3
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, et al (1995) A type VII myosin encoded by the mouse deafness gene shaker-1. 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.W.7
-
4
-
-
0028306509
-
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
-
Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, et al (1994) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 3:989-993
-
(1994)
Hum Mol Genet
, vol.3
, pp. 989-993
-
-
Guilford, P.1
Ayadi, H.2
Blanchard, S.3
Chaib, H.4
Le Paslier, D.5
Weissenbach, J.6
Drira, M.7
-
5
-
-
0028787263
-
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type IB
-
Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS (1995) Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type IB. Proc Natl Acad Sci USA 92:9515-9819
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 9515-9819
-
-
Hasson, T.1
Heintzelman, M.B.2
Santos-Sacchi, J.3
Corey, D.P.4
Mooseker, M.S.5
-
6
-
-
0027058632
-
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
-
Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, Dollfus H, et al (1992) A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 14:979-987
-
(1992)
Genomics
, vol.14
, pp. 979-987
-
-
Kaplan, J.1
Gerber, S.2
Bonneau, D.3
Rozet, J.M.4
Delrieu, O.5
Briard, M.L.6
Dollfus, H.7
-
7
-
-
0026007392
-
Rapid detection of single base mismatches as heteroduplexes on hydrolink gels
-
Keen J, Lester D, Inglehearn C, Curtis A, Bhattacharya S (1991) Rapid detection of single base mismatches as heteroduplexes on hydrolink gels. Trends Genet 7:5
-
(1991)
Trends Genet
, vol.7
, pp. 5
-
-
Keen, J.1
Lester, D.2
Inglehearn, C.3
Curtis, A.4
Bhattacharya, S.5
-
8
-
-
0027058412
-
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
-
Kimberling WJ, Möller CG, Davenport S, Priluck I, Beighton P, Greenburg J, Reardon W, et al (1992) Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 14:988-994
-
(1992)
Genomics
, vol.14
, pp. 988-994
-
-
Kimberling, W.J.1
Möller, C.G.2
Davenport, S.3
Priluck, I.4
Beighton, P.5
Greenburg, J.6
Reardon, W.7
-
9
-
-
0029202639
-
Clinical and molecular genetics of Usher syndrome
-
Kimberling WJ, Möller C (1995) Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol 6:63-72
-
(1995)
J Am Acad Audiol
, vol.6
, pp. 63-72
-
-
Kimberling, W.J.1
Möller, C.2
-
10
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
12
-
-
0029024879
-
Structural interpretation of the mutation in the B-cardiac myosin that have been implicated in familial hypertrophie cardiomyopathy
-
Rayment I, Hoden HM, Sellers JR, Fananapazir L, and Epstein ND (1995) Structural interpretation of the mutation in the B-cardiac myosin that have been implicated in familial hypertrophie cardiomyopathy. Proc Natl Acad Sci USA 92:3864-3868
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 3864-3868
-
-
Rayment, I.1
Hoden, H.M.2
Sellers, J.R.3
Fananapazir, L.4
Epstein, N.D.5
-
13
-
-
0027226230
-
Structure of the actinmyosin complex and its implications for muscle contraction
-
Rayment I, Holden HM, Whittaker M, Yohn CB, Lorenz M, Holmes KG, Milligan RA (1993a) Structure of the actinmyosin complex and its implications for muscle contraction. Science 261:58-65
-
(1993)
Science
, vol.261
, pp. 58-65
-
-
Rayment, I.1
Holden, H.M.2
Whittaker, M.3
Yohn, C.B.4
Lorenz, M.5
Holmes, K.G.6
Milligan, R.A.7
-
14
-
-
0027194702
-
Three-dimensional structure of myosin subfragment-1: A molecular motor
-
Rayment I, Rypniewski RW, Schmidt-Base K, Smith R, Tomchick DR, Benning MM, Winkelmann DA, et al (1993b) 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, R.W.2
Schmidt-Base, K.3
Smith, R.4
Tomchick, D.R.5
Benning, M.M.6
Winkelmann, D.A.7
-
15
-
-
0029045386
-
Double mutant alleles: Are they rare?
-
Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L (1995) Double mutant alleles: are they rare? Hum Mol Genet 4:1169-1171
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1169-1171
-
-
Savov, A.1
Angelicheva, D.2
Balassopoulou, A.3
Jordanova, A.4
Noussia-Arvanitakis, S.5
Kalaydjieva, L.6
-
16
-
-
0029064776
-
T to G mutation in the polypyrimidine tract of the second intron of the human B-globin gene reduces in vitro splicing efficiency: Evidence for an increased hnRNP C interaction
-
Sebillon P, Beldjord C, Kaplan J, Brody E, Marie JA (1995) T to G mutation in the polypyrimidine tract of the second intron of the human B-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction. Nucleic Acids Res 23:3419-3425
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 3419-3425
-
-
Sebillon, P.1
Beldjord, C.2
Kaplan, J.3
Brody, E.4
Marie, J.A.5
-
17
-
-
0027058291
-
Localization of two genes for Usher syndrome type I to chromosome 11
-
Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, Jay M, et al (1992) Localization of two genes for Usher syndrome type I to chromosome 11. Genomics 14:995-1002
-
(1992)
Genomics
, vol.14
, pp. 995-1002
-
-
Smith, R.J.H.1
Lee, E.C.2
Kimberling, W.J.3
Daiger, S.P.4
Pelias, M.Z.5
Keats, B.J.B.6
Jay, M.7
-
18
-
-
0027279669
-
Molecular muscle
-
Taylor EW (1993) Molecular muscle. Science 261:35-36
-
(1993)
Science
, vol.261
, pp. 35-36
-
-
Taylor, E.W.1
-
20
-
-
0029089583
-
Familial hypertrophic cardiomyopathy: A genetic model of cardiac hypertrophy
-
Watkins H, Seidman JG, Seidman CE (1995) Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet 4:1721-1727
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1721-1727
-
-
Watkins, H.1
Seidman, J.G.2
Seidman, C.E.3
-
21
-
-
0028815440
-
Defective myosin Vila gene responsible for Usher syndrome type 1B
-
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, et al (1995) Defective myosin Vila 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
-
22
-
-
9244233852
-
Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
-
Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amoroui A, Crozet F, et al (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
El-Amoroui, A.6
Crozet, F.7
|