-
1
-
-
0037636295
-
The venerable inveterate invertebrate TRP channels
-
Montell C. The venerable inveterate invertebrate TRP channels. Cell Calcium 2003, 33:409-417.
-
(2003)
Cell Calcium
, vol.33
, pp. 409-417
-
-
Montell, C.1
-
3
-
-
77951114632
-
Molecular basis of infrared detection by snakes
-
Gracheva E.O., Ingolia N.T., Kelly Y.M., Cordero-Morales J.F., Hollopeter G., Chesler A.T., Sanchez E.E., Perez J.C., Weissman J.S., Julius D. Molecular basis of infrared detection by snakes. Nature 2010, 464:1006-1011.
-
(2010)
Nature
, vol.464
, pp. 1006-1011
-
-
Gracheva, E.O.1
Ingolia, N.T.2
Kelly, Y.M.3
Cordero-Morales, J.F.4
Hollopeter, G.5
Chesler, A.T.6
Sanchez, E.E.7
Perez, J.C.8
Weissman, J.S.9
Julius, D.10
-
4
-
-
0022347577
-
Rescue of the Drosophila phototransduction mutation trp by germline transformation
-
Montell C., Jones K., Hafen E., Rubin G. Rescue of the Drosophila phototransduction mutation trp by germline transformation. Science 1985, 230:1040-1043.
-
(1985)
Science
, vol.230
, pp. 1040-1043
-
-
Montell, C.1
Jones, K.2
Hafen, E.3
Rubin, G.4
-
6
-
-
0027348040
-
Synaptic circuitry of the retina and olfactory bulb
-
DeVries S.H., Baylor D.A. Synaptic circuitry of the retina and olfactory bulb. Cell 1993, 72(Suppl.):139-149.
-
(1993)
Cell
, vol.72
, Issue.SUPPL.
, pp. 139-149
-
-
DeVries, S.H.1
Baylor, D.A.2
-
7
-
-
0032079109
-
Glutamate receptors: brain function and signal transduction
-
Nakanishi S., Nakajima Y., Masu M., Ueda Y., Nakahara K., Watanabe D., Yamaguchi S., Kawabata S., Okada M. Glutamate receptors: brain function and signal transduction. Brain Res. Rev. 1998, 26:230-235.
-
(1998)
Brain Res. Rev.
, vol.26
, pp. 230-235
-
-
Nakanishi, S.1
Nakajima, Y.2
Masu, M.3
Ueda, Y.4
Nakahara, K.5
Watanabe, D.6
Yamaguchi, S.7
Kawabata, S.8
Okada, M.9
-
8
-
-
0028218968
-
Developmentally regulated postsynaptic localization of a metabotropic glutamate receptor in rat rod bipolar cells
-
Nomura A., Shigemoto R., Nakamura Y., Okamoto N., Mizuno N., Nakanishi S. Developmentally regulated postsynaptic localization of a metabotropic glutamate receptor in rat rod bipolar cells. Cell 1994, 77:361-369.
-
(1994)
Cell
, vol.77
, pp. 361-369
-
-
Nomura, A.1
Shigemoto, R.2
Nakamura, Y.3
Okamoto, N.4
Mizuno, N.5
Nakanishi, S.6
-
9
-
-
0035817417
-
Localization of kainate receptors at the cone pedicles of the primate retina
-
Haverkamp S., Grunert U., Wassle H. Localization of kainate receptors at the cone pedicles of the primate retina. J. Comp. Neurol. 2001, 436:471-486.
-
(2001)
J. Comp. Neurol.
, vol.436
, pp. 471-486
-
-
Haverkamp, S.1
Grunert, U.2
Wassle, H.3
-
10
-
-
0033535344
-
Differential expression of ionotropic glutamate receptor subunits in the outer retina
-
Morigiwa K., Vardi N. Differential expression of ionotropic glutamate receptor subunits in the outer retina. J. Comp. Neurol. 1999, 405:173-184.
-
(1999)
J. Comp. Neurol.
, vol.405
, pp. 173-184
-
-
Morigiwa, K.1
Vardi, N.2
-
11
-
-
0029010682
-
L-glutamate-induced responses and cGMP-activated channels in three subtypes of retinal bipolar cells dissociated from the cat
-
de la Villa P., Kurahashi T., Kaneko A. L-glutamate-induced responses and cGMP-activated channels in three subtypes of retinal bipolar cells dissociated from the cat. J. Neurosci. 1995, 15:3571-3582.
-
(1995)
J. Neurosci.
, vol.15
, pp. 3571-3582
-
-
de la Villa, P.1
Kurahashi, T.2
Kaneko, A.3
-
12
-
-
0028937683
-
Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene
-
Masu M., Iwakabe H., Tagawa Y., Miyoshi T., Yamashita M., Fukuda Y., Sasaki H., Hiroi K., Nakamura Y., Shigemoto R., et al. Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell 1995, 80:757-765.
-
(1995)
Cell
, vol.80
, pp. 757-765
-
-
Masu, M.1
Iwakabe, H.2
Tagawa, Y.3
Miyoshi, T.4
Yamashita, M.5
Fukuda, Y.6
Sasaki, H.7
Hiroi, K.8
Nakamura, Y.9
Shigemoto, R.10
-
13
-
-
0029878568
-
Glutamate responses of bipolar cells in a slice preparation of the rat retina
-
Euler T., Schneider H., Wassle H. Glutamate responses of bipolar cells in a slice preparation of the rat retina. J. Neurosci. 1996, 16:2934-2944.
-
(1996)
J. Neurosci.
, vol.16
, pp. 2934-2944
-
-
Euler, T.1
Schneider, H.2
Wassle, H.3
-
14
-
-
0025282327
-
Suppression by glutamate of cGMP-activated conductance in retinal bipolar cells
-
Nawy S., Jahr C.E. Suppression by glutamate of cGMP-activated conductance in retinal bipolar cells. Nature 1990, 346:269-271.
-
(1990)
Nature
, vol.346
, pp. 269-271
-
-
Nawy, S.1
Jahr, C.E.2
-
15
-
-
0031455378
-
Functional coupling of a human retinal metabotropic glutamate receptor (hmGluR6) to bovine rod transducin and rat Go in an in vitro reconstitution system
-
Weng K., Lu C., Daggett L.P., Kuhn R., Flor P.J., Johnson E.C., Robinson P.R. Functional coupling of a human retinal metabotropic glutamate receptor (hmGluR6) to bovine rod transducin and rat Go in an in vitro reconstitution system. J. Biol. Chem. 1997, 272:33100-33104.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 33100-33104
-
-
Weng, K.1
Lu, C.2
Daggett, L.P.3
Kuhn, R.4
Flor, P.J.5
Johnson, E.C.6
Robinson, P.R.7
-
16
-
-
0032565442
-
Alpha subunit of Go localizes in the dendritic tips of ON bipolar cells
-
Vardi N. Alpha subunit of Go localizes in the dendritic tips of ON bipolar cells. J. Comp. Neurol. 1998, 395:43-52.
-
(1998)
J. Comp. Neurol.
, vol.395
, pp. 43-52
-
-
Vardi, N.1
-
17
-
-
0033561177
-
The metabotropic receptor mGluR6 may signal through G(o), but not phosphodiesterase, in retinal bipolar cells
-
Nawy S. The metabotropic receptor mGluR6 may signal through G(o), but not phosphodiesterase, in retinal bipolar cells. J. Neurosci. 1999, 19:2938-2944.
-
(1999)
J. Neurosci.
, vol.19
, pp. 2938-2944
-
-
Nawy, S.1
-
18
-
-
0037096436
-
Light response of retinal ON bipolar cells requires a specific splice variant of Galpha(o)
-
Dhingra A., Jiang M., Wang T.L., Lyubarsky A., Savchenko A., Bar-Yehuda T., Sterling P., Birnbaumer L., Vardi N. Light response of retinal ON bipolar cells requires a specific splice variant of Galpha(o). J. Neurosci. 2002, 22:4878-4884.
-
(2002)
J. Neurosci.
, vol.22
, pp. 4878-4884
-
-
Dhingra, A.1
Jiang, M.2
Wang, T.L.3
Lyubarsky, A.4
Savchenko, A.5
Bar-Yehuda, T.6
Sterling, P.7
Birnbaumer, L.8
Vardi, N.9
-
19
-
-
0034671182
-
The light response of ON bipolar neurons requires G[alpha]o
-
Dhingra A., Lyubarsky A., Jiang M., Pugh E.N., Birnbaumer L., Sterling P., Vardi N. The light response of ON bipolar neurons requires G[alpha]o. J. Neurosci. 2000, 20:9053-9058.
-
(2000)
J. Neurosci.
, vol.20
, pp. 9053-9058
-
-
Dhingra, A.1
Lyubarsky, A.2
Jiang, M.3
Pugh, E.N.4
Birnbaumer, L.5
Sterling, P.6
Vardi, N.7
-
20
-
-
3242788184
-
CGMP-dependent kinase regulates response sensitivity of the mouse on bipolar cell
-
Snellman J., Nawy S. cGMP-dependent kinase regulates response sensitivity of the mouse on bipolar cell. J. Neurosci. 2004, 24:6621-6628.
-
(2004)
J. Neurosci.
, vol.24
, pp. 6621-6628
-
-
Snellman, J.1
Nawy, S.2
-
21
-
-
34247178120
-
2-Aminoethoxydiphenylborane is an acute inhibitor of directly photosensitive retinal ganglion cell activity in vitro and in vivo
-
Sekaran S., Lall G.S., Ralphs K.L., Wolstenholme A.J., Lucas R.J., Foster R.G., Hankins M.W. 2-Aminoethoxydiphenylborane is an acute inhibitor of directly photosensitive retinal ganglion cell activity in vitro and in vivo. J. Neurosci. 2007, 27:3981-3986.
-
(2007)
J. Neurosci.
, vol.27
, pp. 3981-3986
-
-
Sekaran, S.1
Lall, G.S.2
Ralphs, K.L.3
Wolstenholme, A.J.4
Lucas, R.J.5
Foster, R.G.6
Hankins, M.W.7
-
22
-
-
0032054272
-
Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis
-
Duncan L.M., Deeds J., Hunter J., Shao J., Holmgren L.M., Woolf E.A., Tepper R.I., Shyjan A.W. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis. Cancer Res. 1998, 58:1515-1520.
-
(1998)
Cancer Res.
, vol.58
, pp. 1515-1520
-
-
Duncan, L.M.1
Deeds, J.2
Hunter, J.3
Shao, J.4
Holmgren, L.M.5
Woolf, E.A.6
Tepper, R.I.7
Shyjan, A.W.8
-
23
-
-
24644505615
-
The mammalian melastatin-related transient receptor potential cation channels: an overview
-
Kraft R., Harteneck C. The mammalian melastatin-related transient receptor potential cation channels: an overview. Pflugers Arch. 2005, 451:204-211.
-
(2005)
Pflugers Arch.
, vol.451
, pp. 204-211
-
-
Kraft, R.1
Harteneck, C.2
-
24
-
-
0034627233
-
Expression and Up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells
-
Fang D., Setaluri V. Expression and Up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells. Biochem. Biophys. Res. Commun. 2000, 279:53-61.
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.279
, pp. 53-61
-
-
Fang, D.1
Setaluri, V.2
-
25
-
-
70349229253
-
Calcium homeostasis in human melanocytes: role of transient receptor potential melastatin 1 (TRPM1) and its regulation by ultraviolet light
-
Devi S., Kedlaya R., Maddodi N., Bhat K.M., Weber C.S., Valdivia H., Setaluri V. Calcium homeostasis in human melanocytes: role of transient receptor potential melastatin 1 (TRPM1) and its regulation by ultraviolet light. Am. J. Physiol. Cell Physiol. 2009, 297:C679-C687.
-
(2009)
Am. J. Physiol. Cell Physiol.
, vol.297
-
-
Devi, S.1
Kedlaya, R.2
Maddodi, N.3
Bhat, K.M.4
Weber, C.S.5
Valdivia, H.6
Setaluri, V.7
-
26
-
-
0032533904
-
Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)
-
Hunter J.J., Shao J., Smutko J.S., Dussault B.J., Nagle D.L., Woolf E.A., Holmgren L.M., Moore K.J., Shyjan A.W. Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). Genomics 1998, 54:116-123.
-
(1998)
Genomics
, vol.54
, pp. 116-123
-
-
Hunter, J.J.1
Shao, J.2
Smutko, J.S.3
Dussault, B.J.4
Nagle, D.L.5
Woolf, E.A.6
Holmgren, L.M.7
Moore, K.J.8
Shyjan, A.W.9
-
27
-
-
33645830231
-
Cloning and characterization of mr-s, a novel SAM domain protein, predominantly expressed in retinal photoreceptor cells
-
Inoue T., Terada K., Furukawa A., Koike C., Tamaki Y., Araie M., Furukawa T. Cloning and characterization of mr-s, a novel SAM domain protein, predominantly expressed in retinal photoreceptor cells. BMC Dev. Biol. 2006, 6:15.
-
(2006)
BMC Dev. Biol.
, vol.6
, pp. 15
-
-
Inoue, T.1
Terada, K.2
Furukawa, A.3
Koike, C.4
Tamaki, Y.5
Araie, M.6
Furukawa, T.7
-
28
-
-
76249100557
-
TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade
-
(Epub Dec. 4, 2009)
-
Koike C., Obara T., Uriu Y., Numata T., Sanuki R., Miyata K., Koyasu T., Ueno S., Funabiki K., Tani A., Ueda H., Kondo M., Mori Y., Tachibana M., Furukawa T. TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:332-337. (Epub Dec. 4, 2009).
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 332-337
-
-
Koike, C.1
Obara, T.2
Uriu, Y.3
Numata, T.4
Sanuki, R.5
Miyata, K.6
Koyasu, T.7
Ueno, S.8
Funabiki, K.9
Tani, A.10
Ueda, H.11
Kondo, M.12
Mori, Y.13
Tachibana, M.14
Furukawa, T.15
-
29
-
-
59849100409
-
The functional analysis of TRPM1 in retinal bipolar cells
-
Koike C., Sanuki R., Miyata K., Koyasu T., Miyoshi T., Sawai H., Kondo M., Usukura J., Furukawa T. The functional analysis of TRPM1 in retinal bipolar cells. Neurosci. Res. 2007, 58:S41.
-
(2007)
Neurosci. Res.
, vol.58
-
-
Koike, C.1
Sanuki, R.2
Miyata, K.3
Koyasu, T.4
Miyoshi, T.5
Sawai, H.6
Kondo, M.7
Usukura, J.8
Furukawa, T.9
-
30
-
-
36849048682
-
Functional roles of Otx2 transcription factor in postnatal mouse retinal development
-
Koike C., Nishida A., Ueno S., Saito H., Sanuki R., Sato S., Furukawa A., Aizawa S., Matsuo I., Suzuki N., Kondo M., Furukawa T. Functional roles of Otx2 transcription factor in postnatal mouse retinal development. Mol. Cell. Biol. 2007, 27:8318-8329.
-
(2007)
Mol. Cell. Biol.
, vol.27
, pp. 8318-8329
-
-
Koike, C.1
Nishida, A.2
Ueno, S.3
Saito, H.4
Sanuki, R.5
Sato, S.6
Furukawa, A.7
Aizawa, S.8
Matsuo, I.9
Suzuki, N.10
Kondo, M.11
Furukawa, T.12
-
31
-
-
73149094062
-
TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells
-
Morgans C.W., Zhang J., Jeffrey B.G., Nelson S.M., Burke N.S., Duvoisin R.M., Brown R.L. TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:19174-19178.
-
(2009)
Proc. Natl. Acad. Sci. U.S.A.
, vol.106
, pp. 19174-19178
-
-
Morgans, C.W.1
Zhang, J.2
Jeffrey, B.G.3
Nelson, S.M.4
Burke, N.S.5
Duvoisin, R.M.6
Brown, R.L.7
-
32
-
-
55749100524
-
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)
-
Bellone R.R., Brooks S.A., Sandmeyer L., Murphy B.A., Forsyth G., Archer S., Bailey E., Grahn B. Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus). Genetics 2008, 179:1861-1870.
-
(2008)
Genetics
, vol.179
, pp. 1861-1870
-
-
Bellone, R.R.1
Brooks, S.A.2
Sandmeyer, L.3
Murphy, B.A.4
Forsyth, G.5
Archer, S.6
Bailey, E.7
Grahn, B.8
-
33
-
-
70349236419
-
TRPM1 forms ion channels associated with melanin content in melanocytes
-
Oancea E., Vriens J., Brauchi S., Jun J., Splawski I., Clapham D.E. TRPM1 forms ion channels associated with melanin content in melanocytes. Sci. Signal. 2009, 2:ra21.
-
(2009)
Sci. Signal.
, vol.2
-
-
Oancea, E.1
Vriens, J.2
Brauchi, S.3
Jun, J.4
Splawski, I.5
Clapham, D.E.6
-
34
-
-
66049158598
-
A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells
-
Shen Y., Heimel J.A., Kamermans M., Peachey N.S., Gregg R.G., Nawy S. A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells. J. Neurosci. 2009, 29:6088-6093.
-
(2009)
J. Neurosci.
, vol.29
, pp. 6088-6093
-
-
Shen, Y.1
Heimel, J.A.2
Kamermans, M.3
Peachey, N.S.4
Gregg, R.G.5
Nawy, S.6
-
35
-
-
77952315144
-
TRPM1 mutations are associated with the complete form of congenital stationary night blindness
-
Nakamura M., Sanuki R., Yasuma T.R., Onishi A., Nishiguchi K.M., Koike C., Kadowaki M., Kondo M., Miyake Y., Furukawa T TRPM1 mutations are associated with the complete form of congenital stationary night blindness. Mol. Vis. 2010, 16:425-437.
-
(2010)
Mol. Vis.
, vol.16
, pp. 425-437
-
-
Nakamura, M.1
Sanuki, R.2
Yasuma, T.R.3
Onishi, A.4
Nishiguchi, K.M.5
Koike, C.6
Kadowaki, M.7
Kondo, M.8
Miyake, Y.9
Furukawa, T.10
-
36
-
-
38549153651
-
Photopic electroretinograms of mGluR6-deficient mice
-
Koyasu T., Kondo M., Miyata K., Ueno S., Miyata T., Nishizawa Y., Terasaki H. Photopic electroretinograms of mGluR6-deficient mice. Curr. Eye Res. 2008, 33:91-99.
-
(2008)
Curr. Eye Res.
, vol.33
, pp. 91-99
-
-
Koyasu, T.1
Kondo, M.2
Miyata, K.3
Ueno, S.4
Miyata, T.5
Nishizawa, Y.6
Terasaki, H.7
-
37
-
-
0023505877
-
Noise analysis predicts at least four states for channels closed by glutamate
-
Wilson M., Tessier-Lavigne M., Attwell D. Noise analysis predicts at least four states for channels closed by glutamate. Biophys. J. 1987, 52:955-960.
-
(1987)
Biophys. J.
, vol.52
, pp. 955-960
-
-
Wilson, M.1
Tessier-Lavigne, M.2
Attwell, D.3
-
38
-
-
17644385512
-
Group III metabotropic glutamate receptors and exocytosed protons inhibit L-type calcium currents in cones but not in rods
-
Hosoi N., Arai I., Tachibana M. Group III metabotropic glutamate receptors and exocytosed protons inhibit L-type calcium currents in cones but not in rods. J. Neurosci. 2005, 25:4062-4072.
-
(2005)
J. Neurosci.
, vol.25
, pp. 4062-4072
-
-
Hosoi, N.1
Arai, I.2
Tachibana, M.3
-
39
-
-
0035845566
-
Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform
-
Xu X.Z., Moebius F., Gill D.L., Montell C. Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform. Proc. Natl. Acad. Sci. U.S.A. 2001, 98:10692-10697.
-
(2001)
Proc. Natl. Acad. Sci. U.S.A.
, vol.98
, pp. 10692-10697
-
-
Xu, X.Z.1
Moebius, F.2
Gill, D.L.3
Montell, C.4
-
40
-
-
77951374758
-
Analysis of the human electroretinogram
-
Schubert G., Bornschein H. Analysis of the human electroretinogram. Ophthalmologica 1952, 123:396-413.
-
(1952)
Ophthalmologica
, vol.123
, pp. 396-413
-
-
Schubert, G.1
Bornschein, H.2
-
41
-
-
0016134917
-
Congenital stationary nightblindness
-
Carr R.E. Congenital stationary nightblindness. Trans. Am. Ophthalmol. Soc. 1974, 72:448-487.
-
(1974)
Trans. Am. Ophthalmol. Soc.
, vol.72
, pp. 448-487
-
-
Carr, R.E.1
-
42
-
-
0041104621
-
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
-
Bech-Hansen N.T., Naylor M.J., Maybaum T.A., Pearce W.G., Koop B., Fishman G.A., Mets M., Musarella M.A., Boycott K.M. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat. Genet. 1998, 19:264-267.
-
(1998)
Nat. Genet.
, vol.19
, pp. 264-267
-
-
Bech-Hansen, N.T.1
Naylor, M.J.2
Maybaum, T.A.3
Pearce, W.G.4
Koop, B.5
Fishman, G.A.6
Mets, M.7
Musarella, M.A.8
Boycott, K.M.9
-
43
-
-
0022528965
-
Congenital stationary night blindness with negative electroretinogram. A new classification
-
Miyake Y., Yagasaki K., Horiguchi M., Kawase Y., Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch. Ophthalmol. 1986, 104:1013-1020.
-
(1986)
Arch. Ophthalmol.
, vol.104
, pp. 1013-1020
-
-
Miyake, Y.1
Yagasaki, K.2
Horiguchi, M.3
Kawase, Y.4
Kanda, T.5
-
44
-
-
0027687409
-
Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type
-
Ruether K., Apfelstedt-Sylla E., Zrenner E. Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type. Ger. J. Ophthalmol. 1993, 2:429-435.
-
(1993)
Ger. J. Ophthalmol.
, vol.2
, pp. 429-435
-
-
Ruether, K.1
Apfelstedt-Sylla, E.2
Zrenner, E.3
-
45
-
-
0033757466
-
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
-
Bech-Hansen N.T., Naylor M.J., Maybaum T.A., Sparkes R.L., Koop B., Birch D.G., Bergen A.A., Prinsen C.F., Polomeno R.C., Gal A., Drack A.V., Musarella M.A., Jacobson S.G., Young R.S., Weleber R.G. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat. Genet. 2000, 26:319-323.
-
(2000)
Nat. Genet.
, vol.26
, pp. 319-323
-
-
Bech-Hansen, N.T.1
Naylor, M.J.2
Maybaum, T.A.3
Sparkes, R.L.4
Koop, B.5
Birch, D.G.6
Bergen, A.A.7
Prinsen, C.F.8
Polomeno, R.C.9
Gal, A.10
Drack, A.V.11
Musarella, M.A.12
Jacobson, S.G.13
Young, R.S.14
Weleber, R.G.15
-
46
-
-
0033762779
-
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
-
Pusch C.M., Zeitz C., Brandau O., Pesch K., Achatz H., Feil S., Scharfe C., Maurer J., Jacobi F.K., Pinckers A., Andreasson S., Hardcastle A., Wissinger B., Berger W., Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat. Genet. 2000, 26:324-327.
-
(2000)
Nat. Genet.
, vol.26
, pp. 324-327
-
-
Pusch, C.M.1
Zeitz, C.2
Brandau, O.3
Pesch, K.4
Achatz, H.5
Feil, S.6
Scharfe, C.7
Maurer, J.8
Jacobi, F.K.9
Pinckers, A.10
Andreasson, S.11
Hardcastle, A.12
Wissinger, B.13
Berger, W.14
Meindl, A.15
-
47
-
-
16344363011
-
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6
-
Dryja T.P., McGee T.L., Berson E.L., Fishman G.A., Sandberg M.A., Alexander K.R., Derlacki D.J., Rajagopalan A.S. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:4884-4889.
-
(2005)
Proc. Natl. Acad. Sci. U.S.A.
, vol.102
, pp. 4884-4889
-
-
Dryja, T.P.1
McGee, T.L.2
Berson, E.L.3
Fishman, G.A.4
Sandberg, M.A.5
Alexander, K.R.6
Derlacki, D.J.7
Rajagopalan, A.S.8
-
48
-
-
33644701685
-
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
-
Zeitz C., van Genderen M., Neidhardt J., Luhmann U.F., Hoeben F., Forster U., Wycisk K., Matyas G., Hoyng C.B., Riemslag F., Meire F., Cremers F.P., Berger W. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest. Ophthalmol. Vis. Sci. 2005, 46:4328-4335.
-
(2005)
Invest. Ophthalmol. Vis. Sci.
, vol.46
, pp. 4328-4335
-
-
Zeitz, C.1
van Genderen, M.2
Neidhardt, J.3
Luhmann, U.F.4
Hoeben, F.5
Forster, U.6
Wycisk, K.7
Matyas, G.8
Hoyng, C.B.9
Riemslag, F.10
Meire, F.11
Cremers, F.P.12
Berger, W.13
-
49
-
-
34548023703
-
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking
-
Zeitz C., Forster U., Neidhardt J., Feil S., Kalin S., Leifert D., Flor P.J., Berger W. Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum. Mutat. 2007, 28:771-780.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 771-780
-
-
Zeitz, C.1
Forster, U.2
Neidhardt, J.3
Feil, S.4
Kalin, S.5
Leifert, D.6
Flor, P.J.7
Berger, W.8
-
50
-
-
72149101903
-
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
-
Audo I., Kohl S., Leroy B.P., Munier F.L., Guillonneau X., Mohand-Said S., Bujakowska K., Nandrot E.F., Lorenz B., Preising M., Kellner U., Renner A.B., Bernd A., Antonio A., Moskova-Doumanova V., Lancelot M.E., Poloschek C.M., Drumare I., Defoort-Dhellemmes S., Wissinger B., Leveillard T., Hamel C.P., Schorderet D.F., De Baere E., Berger W., Jacobson S.G., Zrenner E., Sahel J.A., Bhattacharya S.S., Zeitz C. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am. J. Hum. Genet. 2009, 85:720-729.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 720-729
-
-
Audo, I.1
Kohl, S.2
Leroy, B.P.3
Munier, F.L.4
Guillonneau, X.5
Mohand-Said, S.6
Bujakowska, K.7
Nandrot, E.F.8
Lorenz, B.9
Preising, M.10
Kellner, U.11
Renner, A.B.12
Bernd, A.13
Antonio, A.14
Moskova-Doumanova, V.15
Lancelot, M.E.16
Poloschek, C.M.17
Drumare, I.18
Defoort-Dhellemmes, S.19
Wissinger, B.20
Leveillard, T.21
Hamel, C.P.22
Schorderet, D.F.23
De Baere, E.24
Berger, W.25
Jacobson, S.G.26
Zrenner, E.27
Sahel, J.A.28
Bhattacharya, S.S.29
Zeitz, C.30
more..
-
51
-
-
71849117485
-
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness
-
van Genderen M.M., Bijveld M.M., Claassen Y.B., Florijn R.J., Pearring J.N., Meire F.M., McCall M.A., Riemslag F.C., Gregg R.G., Bergen A.A., Kamermans M. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am. J. Hum. Genet. 2009, 85:730-736.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 730-736
-
-
van Genderen, M.M.1
Bijveld, M.M.2
Claassen, Y.B.3
Florijn, R.J.4
Pearring, J.N.5
Meire, F.M.6
McCall, M.A.7
Riemslag, F.C.8
Gregg, R.G.9
Bergen, A.A.10
Kamermans, M.11
-
52
-
-
71849089234
-
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
-
Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A., Devery S., Moore A.T., Holder G.E., Robson A.G., Webster A.R. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am. J. Hum. Genet. 2009, 85:711-719.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 711-719
-
-
Li, Z.1
Sergouniotis, P.I.2
Michaelides, M.3
Mackay, D.S.4
Wright, G.A.5
Devery, S.6
Moore, A.T.7
Holder, G.E.8
Robson, A.G.9
Webster, A.R.10
-
53
-
-
1542512113
-
Paraneoplastic syndromes associated with visual loss
-
Ling C.P., Pavesio C. Paraneoplastic syndromes associated with visual loss. Curr. Opin. Ophthalmol. 2003, 14:426-432.
-
(2003)
Curr. Opin. Ophthalmol.
, vol.14
, pp. 426-432
-
-
Ling, C.P.1
Pavesio, C.2
|