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Volumn 26, Issue 9, 2012, Pages 1278-1280

Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene

Author keywords

[No Author keywords available]

Indexed keywords

CACNA1F PROTEIN; CALCIUM CHANNEL L TYPE; UNCLASSIFIED DRUG;

EID: 84867518811     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2012.125     Document Type: Letter
Times cited : (8)

References (9)
  • 1
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    • Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    • Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet 2000; 26(3): 319-323.
    • (2000) Nat Genet , vol.26 , Issue.3 , 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
  • 2
    • 17344366487 scopus 로고    scopus 로고
    • An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
    • Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 1998; 193: 260-263.
    • (1998) Nat Genet , vol.193 , pp. 260-263
    • Strom, T.M.1    Nyakatura, G.2    Apfelstedt-Sylla, E.3    Hellebrand, H.4    Lorenz, B.5    Weber, B.H.6
  • 3
    • 27544503765 scopus 로고    scopus 로고
    • Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
    • Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F et al. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum Mol Genet 2005; 14(20): 3035-3046.
    • (2005) Hum Mol Genet , vol.14 , Issue.20 , pp. 3035-3046
    • Mansergh, F.1    Orton, N.C.2    Vessey, J.P.3    Lalonde, M.R.4    Stell, W.K.5    Tremblay, F.6
  • 4
    • 38549152316 scopus 로고    scopus 로고
    • Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology
    • Raven MA, Orton NC, Nassar H, Williams GA, Stell WK, Jacobs GH et al. Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology. J Comp Neurol 2008; 506(5): 745-758.
    • (2008) J Comp Neurol , vol.506 , Issue.5 , pp. 745-758
    • Raven, M.A.1    Orton, N.C.2    Nassar, H.3    Williams, G.A.4    Stell, W.K.5    Jacobs, G.H.6
  • 5
    • 33644872908 scopus 로고    scopus 로고
    • The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses
    • Chang B, Heckenlively JR, Bayley PR, Brecha NC, Davisson MT, Hawes NL et al. The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci 2006; 23(1): 11-24.
    • (2006) Vis Neurosci , vol.23 , Issue.1 , pp. 11-24
    • Chang, B.1    Heckenlively, J.R.2    Bayley, P.R.3    Brecha, N.C.4    Davisson, M.T.5    Hawes, N.L.6
  • 7
    • 83555162617 scopus 로고    scopus 로고
    • Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa
    • Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC et al. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. Am J Ophthalmol 2012; 153(1): 143-154 e142.
    • (2012) Am J Ophthalmol , vol.153 , Issue.1
    • Chen, R.W.1    Greenberg, J.P.2    Lazow, M.A.3    Ramachandran, R.4    Lima, L.H.5    Hwang, J.C.6
  • 8
    • 84856153244 scopus 로고    scopus 로고
    • A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family
    • Vincent A, Wright T, Day MA, Westall CA, Heon E. A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis 2011; 17: 3262-3270.
    • (2011) Mol Vis , Issue.17 , pp. 3262-3270
    • Vincent, A.1    Wright, T.2    Day, M.A.3    Westall, C.A.4    Heon, E.5
  • 9
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    • Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities
    • Ball SL, Pardue MT, McCall MA, Gregg RG, Peachey NS. Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities. Vis Neurosci 2003; 20(3): 267-272.
    • (2003) Vis Neurosci , vol.20 , Issue.3 , pp. 267-272
    • Ball, S.L.1    Pardue, M.T.2    McCall, M.A.3    Gregg, R.G.4    Peachey, N.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.