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Volumn 150, Issue 2, 2007, Pages 335-345

Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W

Author keywords

[No Author keywords available]

Indexed keywords

VOLTAGE GATED CALCIUM CHANNEL;

EID: 36649000713     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2007.09.021     Document Type: Article
Times cited : (30)

References (38)
  • 2
    • 0041104621 scopus 로고    scopus 로고
    • 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., and 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 19 (1998) 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
  • 4
    • 0033744810 scopus 로고    scopus 로고
    • Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
    • Boycott K.M., Pearce W.G., and Bech-Hansen N.T. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol 35 (2000) 204-213
    • (2000) Can J Ophthalmol , vol.35 , pp. 204-213
    • Boycott, K.M.1    Pearce, W.G.2    Bech-Hansen, N.T.3
  • 5
    • 36649025761 scopus 로고    scopus 로고
    • The Cav1.4 calcium channel: More than meets the eye
    • Doering C.J., Peloquin J.B., and McRory J.E. The Cav1.4 calcium channel: More than meets the eye. Channels 11 (2007) 6-11
    • (2007) Channels , vol.11 , pp. 6-11
    • Doering, C.J.1    Peloquin, J.B.2    McRory, J.E.3
  • 6
    • 0020000227 scopus 로고
    • Sodium and calcium channels in bovine chromaffin cells
    • Fenwick E.M., Marty A., and Neher E. Sodium and calcium channels in bovine chromaffin cells. J Physiol 331 (1982) 599-635
    • (1982) J Physiol , vol.331 , pp. 599-635
    • Fenwick, E.M.1    Marty, A.2    Neher, E.3
  • 7
    • 0030693367 scopus 로고    scopus 로고
    • Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp
    • Fisher S.E., Ciccodicola A., Tanaka K., Curci A., Desicato S., D'Urso M., and Craig I.W. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. Genomics 45 (1997) 340-347
    • (1997) Genomics , vol.45 , pp. 340-347
    • Fisher, S.E.1    Ciccodicola, A.2    Tanaka, K.3    Curci, A.4    Desicato, S.5    D'Urso, M.6    Craig, I.W.7
  • 13
    • 33644684859 scopus 로고    scopus 로고
    • Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder
    • Hohaus A., Beyl S., Kudrnac M., Berjukow S., Timin E.N., Marksteiner R., Maw M.A., and Hering S. Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder. J Biol Chem 280 (2005) 38471-38477
    • (2005) J Biol Chem , vol.280 , pp. 38471-38477
    • Hohaus, A.1    Beyl, S.2    Kudrnac, M.3    Berjukow, S.4    Timin, E.N.5    Marksteiner, R.6    Maw, M.A.7    Hering, S.8
  • 16
    • 0344443695 scopus 로고    scopus 로고
    • Identification and functional characterization of voltage-dependent calcium channels in T lymphocytes
    • Kotturi M.F., Carlow D.A., Lee J.C., Ziltener H.J., and Jefferies W.A. Identification and functional characterization of voltage-dependent calcium channels in T lymphocytes. J Biol Chem 278 (2003) 46949-46960
    • (2003) J Biol Chem , vol.278 , pp. 46949-46960
    • Kotturi, M.F.1    Carlow, D.A.2    Lee, J.C.3    Ziltener, H.J.4    Jefferies, W.A.5
  • 17
    • 0019940041 scopus 로고
    • Reversal of current through calcium channels in dialysed single heart cells
    • Lee K.S., and Tsien R.W. Reversal of current through calcium channels in dialysed single heart cells. Nature 297 (1982) 498-501
    • (1982) Nature , vol.297 , pp. 498-501
    • Lee, K.S.1    Tsien, R.W.2
  • 18
    • 0021284562 scopus 로고
    • High selectivity of calcium channels in single dialysed heart cells of the guinea-pig
    • Lee K.S., and Tsien R.W. High selectivity of calcium channels in single dialysed heart cells of the guinea-pig. J Physiol 354 (1984) 253-272
    • (1984) J Physiol , vol.354 , pp. 253-272
    • Lee, K.S.1    Tsien, R.W.2
  • 19
    • 0029662359 scopus 로고    scopus 로고
    • Incomplete congenital stationary night blindness (CSNB). An important differential diagnosis of congenital nystagmus
    • Lorenz B., Andrassi M., and Miliczek K.D. Incomplete congenital stationary night blindness (CSNB). An important differential diagnosis of congenital nystagmus. Klin Monatsbl Augenheilkd 208 (1996) 48-55
    • (1996) Klin Monatsbl Augenheilkd , vol.208 , pp. 48-55
    • Lorenz, B.1    Andrassi, M.2    Miliczek, K.D.3
  • 21
    • 0023616983 scopus 로고
    • Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness
    • Miyake Y., Horiguchi M., Ota I., and Shiroyama N. Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness. Invest Ophthalmol Vis Sci 28 (1987) 1816-1823
    • (1987) Invest Ophthalmol Vis Sci , vol.28 , pp. 1816-1823
    • Miyake, Y.1    Horiguchi, M.2    Ota, I.3    Shiroyama, N.4
  • 22
    • 0022528965 scopus 로고
    • Congenital stationary night blindness with negative electroretinogram. A new classification
    • Miyake Y., Yagasaki K., Horiguchi M., Kawase Y., and Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol 104 (1986) 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
  • 23
    • 0033837546 scopus 로고    scopus 로고
    • Neurotransmitter release at ribbon synapses in the retina
    • Morgans C.W. Neurotransmitter release at ribbon synapses in the retina. Immunol Cell Biol 78 (2000) 442-446
    • (2000) Immunol Cell Biol , vol.78 , pp. 442-446
    • Morgans, C.W.1
  • 25
    • 0035013686 scopus 로고    scopus 로고
    • Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness
    • Nakamura M., Ito S., Terasaki H., and Miyake Y. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Invest Ophthalmol Vis Sci 42 (2001) 1610-1616
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 1610-1616
    • Nakamura, M.1    Ito, S.2    Terasaki, H.3    Miyake, Y.4
  • 26
    • 0027687409 scopus 로고
    • Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type
    • Ruether K., Apfelstedt-Sylla E., and Zrenner E. Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type. Ger J Ophthalmol 2 (1993) 429-435
    • (1993) Ger J Ophthalmol , vol.2 , pp. 429-435
    • Ruether, K.1    Apfelstedt-Sylla, E.2    Zrenner, E.3
  • 28
    • 0026534806 scopus 로고
    • 2+ channel transcripts in human fibroblasts
    • 2+ channel transcripts in human fibroblasts. Proc Natl Acad Sci U S A 89 (1992) 4628-4632
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 4628-4632
    • Soldatov, N.M.1
  • 31
    • 0029053553 scopus 로고
    • The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness
    • Tremblay F., Laroche R.G., and De Becker I. The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Vision Res 35 (1995) 2383-2393
    • (1995) Vision Res , vol.35 , pp. 2383-2393
    • Tremblay, F.1    Laroche, R.G.2    De Becker, I.3
  • 32
    • 0036068117 scopus 로고    scopus 로고
    • Infantile and childhood retinal blindness: a molecular perspective (the Franceschetti lecture)
    • Weleber R.G. Infantile and childhood retinal blindness: a molecular perspective (the Franceschetti lecture). Ophthalm Genet 23 (2002) 71-97
    • (2002) Ophthalm Genet , vol.23 , pp. 71-97
    • Weleber, R.G.1
  • 33
    • 0030775461 scopus 로고    scopus 로고
    • Gain of rod to horizontal cell synaptic transfer: relation to glutamate release and a dihydropyridine-sensitive calcium current
    • Witkovsky P., Schmitz Y., Akopian A., Krizaj D., and Tranchina D. Gain of rod to horizontal cell synaptic transfer: relation to glutamate release and a dihydropyridine-sensitive calcium current. J Neurosci 17 (1997) 7297-7306
    • (1997) J Neurosci , vol.17 , pp. 7297-7306
    • Witkovsky, P.1    Schmitz, Y.2    Akopian, A.3    Krizaj, D.4    Tranchina, D.5
  • 37
    • 25444519004 scopus 로고    scopus 로고
    • Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness
    • Zeitz C., Minotti R., Feil S., Matyas G., Cremers F.P., Hoyng C.B., and Berger W. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Mol Vis 11 (2005) 179-183
    • (2005) Mol Vis , vol.11 , pp. 179-183
    • Zeitz, C.1    Minotti, R.2    Feil, S.3    Matyas, G.4    Cremers, F.P.5    Hoyng, C.B.6    Berger, W.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.