메뉴 건너뛰기




Volumn 88, Issue 2, 2008, Pages 639-672

Molecular physiology of bestrophins: Multifunctional membrane proteins linked to best disease and other retinopathies

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); BESTROPHIN; CHLORIDE CHANNEL; CYCLIC AMP DEPENDENT PROTEIN KINASE; ION CHANNEL; MEMBRANE PROTEIN; PROTEIN KINASE C; RNA; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

EID: 42149185064     PISSN: 00319333     EISSN: 15221210     Source Type: Journal    
DOI: 10.1152/physrev.00022.2007     Document Type: Review
Times cited : (288)

References (221)
  • 1
    • 0028830674 scopus 로고
    • Regulatory volume decrease in frog retinal pigment epithelium
    • Adorante JS. Regulatory volume decrease in frog retinal pigment epithelium. Am J Physiol Cell Physiol 268: C89-C100, 1995.
    • (1995) Am J Physiol Cell Physiol , vol.268
    • Adorante, J.S.1
  • 2
    • 0025609211 scopus 로고
    • Potassium-dependent volume regulation in retinal pigment epithelium is mediated by Na,K,Cl cotransport
    • Adorante JS, Miller SS. Potassium-dependent volume regulation in retinal pigment epithelium is mediated by Na,K,Cl cotransport. J Gen Physiol 96: 1153-1176, 1990.
    • (1990) J Gen Physiol , vol.96 , pp. 1153-1176
    • Adorante, J.S.1    Miller, S.S.2
  • 4
    • 0003137201 scopus 로고
    • Alterations in the standing potential of the eye associated with retinal disease
    • Arden GB. Alterations in the standing potential of the eye associated with retinal disease. Trans Ophthalmol Soc UK 82: 63-72, 1962.
    • (1962) Trans Ophthalmol Soc UK , vol.82 , pp. 63-72
    • Arden, G.B.1
  • 5
    • 0001504390 scopus 로고
    • New clinical test of retinal function based upon the standing potential of the eye
    • Arden GB, Barrada A, Kelsey JH. New clinical test of retinal function based upon the standing potential of the eye. Br J Ophthalmol 46: 449-467, 1962.
    • (1962) Br J Ophthalmol , vol.46 , pp. 449-467
    • Arden, G.B.1    Barrada, A.2    Kelsey, J.H.3
  • 6
    • 0038770022 scopus 로고
    • Electrophysiological abnormalities in pigmentary degenerations of the retina
    • Arden GB, Fojas MR. Electrophysiological abnormalities in pigmentary degenerations of the retina. Arch Ophthalmol 68: 369-389, 1962.
    • (1962) Arch Ophthalmol , vol.68 , pp. 369-389
    • Arden, G.B.1    Fojas, M.R.2
  • 13
    • 42149083064 scopus 로고    scopus 로고
    • - conductance in epithelia. J Biol Chem M605716200, 2006.
    • - conductance in epithelia. J Biol Chem M605716200, 2006.
  • 14
    • 0026532895 scopus 로고
    • Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
    • Bear CE, Li CH, Kartner N, Bridges RJ, Jensen TJ, Ramjeesingh M, Riordan JR. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 68: 809-818, 1992.
    • (1992) Cell , vol.68 , pp. 809-818
    • Bear, C.E.1    Li, C.H.2    Kartner, N.3    Bridges, R.J.4    Jensen, T.J.5    Ramjeesingh, M.6    Riordan, J.R.7
  • 15
    • 49049130160 scopus 로고
    • The daily light-dark cycle and rhythmic metabolism in the photoreceptor pigment epithelial complex
    • Besharse JC. The daily light-dark cycle and rhythmic metabolism in the photoreceptor pigment epithelial complex. Prog Retinal Res 1: 81-124, 1982.
    • (1982) Prog Retinal Res , vol.1 , pp. 81-124
    • Besharse, J.C.1
  • 16
    • 0020581440 scopus 로고
    • Rod photoreceptor disc shedding in eye cups: Relationship to bicarbonate and amino acids
    • Besharse JC, Dunis DA. Rod photoreceptor disc shedding in eye cups: relationship to bicarbonate and amino acids. Exp Eye Res 36: 567-579, 1983.
    • (1983) Exp Eye Res , vol.36 , pp. 567-579
    • Besharse, J.C.1    Dunis, D.A.2
  • 17
    • 84940818625 scopus 로고
    • Über eine hereditäre Maculaffektion: Beiträge zur Vererbungslehre.
    • Best F. Über eine hereditäre Maculaffektion: Beiträge zur Vererbungslehre. Z Augenheilkd 13: 199-212, 1905.
    • (1905) Z Augenheilkd , vol.13 , pp. 199-212
    • Best, F.1
  • 18
    • 0028175664 scopus 로고
    • - transport mechanisms in bovine pigment epithelium that can modulate subretinal space volume and composition
    • - transport mechanisms in bovine pigment epithelium that can modulate subretinal space volume and composition. J Physiol 475: 401-417, 1994.
    • (1994) J Physiol , vol.475 , pp. 401-417
    • Bialek, S.1    Miller, S.S.2
  • 20
    • 34547876791 scopus 로고    scopus 로고
    • 19a.Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. Arch Ophthalmol 125: 1100-1106, 2007.
    • 19a.Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. Arch Ophthalmol 125: 1100-1106, 2007.
  • 22
    • 0345166939 scopus 로고    scopus 로고
    • Stretch of β1 integrin activates an outwardly rectifying chloride current via FAK and Src in rabbit ventricular myocytes
    • Browe DM, Baumgarten CM. Stretch of β1 integrin activates an outwardly rectifying chloride current via FAK and Src in rabbit ventricular myocytes. J Gen Physiol 122: 689-702, 2003.
    • (2003) J Gen Physiol , vol.122 , pp. 689-702
    • Browe, D.M.1    Baumgarten, C.M.2
  • 23
    • 33745848402 scopus 로고    scopus 로고
    • Characterization of native retinal fluorophores involved in biosynthesis of A2E and lipofuscin-associated retinopathies
    • Bui TV, Han Y, Radu RA, Travis GH, Mata NL. Characterization of native retinal fluorophores involved in biosynthesis of A2E and lipofuscin-associated retinopathies. J Biol Chem 281: 18112-18119, 2006.
    • (2006) J Biol Chem , vol.281 , pp. 18112-18119
    • Bui, T.V.1    Han, Y.2    Radu, R.A.3    Travis, G.H.4    Mata, N.L.5
  • 24
    • 38749133039 scopus 로고    scopus 로고
    • 22a.Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearson IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 82: 19-31, 2008.
    • 22a.Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearson IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 82: 19-31, 2008.
  • 27
    • 34547428511 scopus 로고    scopus 로고
    • Role of calcium in volume-activated chloride currents in a mouse cholangiocyte cell line
    • Chen B, Nicol G, Cho WK. Role of calcium in volume-activated chloride currents in a mouse cholangiocyte cell line. J Membr Biol 215: 1-13, 2007.
    • (2007) J Membr Biol , vol.215 , pp. 1-13
    • Chen, B.1    Nicol, G.2    Cho, W.K.3
  • 28
    • 15544388091 scopus 로고    scopus 로고
    • Structure and function of ClC channels
    • Chen TY. Structure and function of ClC channels. Annu Rev Physiol 67: 809-839, 2005.
    • (2005) Annu Rev Physiol , vol.67 , pp. 809-839
    • Chen, T.Y.1
  • 29
    • 35648960393 scopus 로고    scopus 로고
    • Drosophila bestrophin-1 current is dually regulated by calcium and cell volume
    • Chien LT, Hartzell HC. Drosophila bestrophin-1 current is dually regulated by calcium and cell volume. J Gen Physiol 130: 513-524, 2007.
    • (2007) J Gen Physiol , vol.130 , pp. 513-524
    • Chien, L.T.1    Hartzell, H.C.2
  • 31
    • 0031801378 scopus 로고    scopus 로고
    • The list of potential volume-sensitive chloride currents continues to swell (and shrink)
    • Clapham D. The list of potential volume-sensitive chloride currents continues to swell (and shrink). J Gen Physiol 111: 623-624, 1998.
    • (1998) J Gen Physiol , vol.111 , pp. 623-624
    • Clapham, D.1
  • 33
    • 0015962403 scopus 로고
    • Electro-oculography in Best's macular dystrophy
    • Cross HE, Bard L. Electro-oculography in Best's macular dystrophy. Am J Ophthalmol 77: 46-50, 1974.
    • (1974) Am J Ophthalmol , vol.77 , pp. 46-50
    • Cross, H.E.1    Bard, L.2
  • 37
    • 0026728742 scopus 로고
    • Reconstitution of the photoreceptor-pigment epithelium interface: L-glutamate stimulation of adhesive interactions and rod disc shedding after recombination of dissociated Xenopus laevis eyecups
    • Defoe DM, Matsumoto B, Besharse JC. Reconstitution of the photoreceptor-pigment epithelium interface: L-glutamate stimulation of adhesive interactions and rod disc shedding after recombination of dissociated Xenopus laevis eyecups. Exp Eye Res 54: 903-911, 1992.
    • (1992) Exp Eye Res , vol.54 , pp. 903-911
    • Defoe, D.M.1    Matsumoto, B.2    Besharse, J.C.3
  • 38
    • 0014481516 scopus 로고
    • Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state
    • Deutman AF. Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol 81: 305-316, 1969.
    • (1969) Arch Ophthalmol , vol.81 , pp. 305-316
    • Deutman, A.F.1
  • 39
    • 0026504831 scopus 로고
    • Volume-sensitive chloride conductance in bovine chromaffin cell membrane
    • Doroshenko P, Neher E. Volume-sensitive chloride conductance in bovine chromaffin cell membrane. J Physiol 449: 197-218, 1992.
    • (1992) J Physiol , vol.449 , pp. 197-218
    • Doroshenko, P.1    Neher, E.2
  • 41
    • 8844258805 scopus 로고    scopus 로고
    • The role of bestrophin in airway epithelial ion transport
    • Duta V, Szkotak AJ, Nahirney D, Duszyk M. The role of bestrophin in airway epithelial ion transport. FEBS Lett 577: 551-554, 2004.
    • (2004) FEBS Lett , vol.577 , pp. 551-554
    • Duta, V.1    Szkotak, A.J.2    Nahirney, D.3    Duszyk, M.4
  • 42
    • 2542466821 scopus 로고    scopus 로고
    • The structural basis of ClC chloride channel function
    • Dutzler R. The structural basis of ClC chloride channel function. Trends Neurosci 27: 315-320, 2004.
    • (2004) Trends Neurosci , vol.27 , pp. 315-320
    • Dutzler, R.1
  • 43
    • 0037122805 scopus 로고    scopus 로고
    • X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity
    • Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415: 287-294, 2002.
    • (2002) Nature , vol.415 , pp. 287-294
    • Dutzler, R.1    Campbell, E.B.2    Cadene, M.3    Chait, B.T.4    MacKinnon, R.5
  • 44
    • 0037418859 scopus 로고    scopus 로고
    • Gating the selectivity filter in ClC chloride channels
    • Dutzler R, Campbell EB, MacKinnon R. Gating the selectivity filter in ClC chloride channels. Science 300: 108-112, 2003.
    • (2003) Science , vol.300 , pp. 108-112
    • Dutzler, R.1    Campbell, E.B.2    MacKinnon, R.3
  • 45
    • 2542466821 scopus 로고    scopus 로고
    • The structural basis of ClC chloride channel function
    • Dutzler R. The structural basis of ClC chloride channel function. Trends Neurosci 27: 315-320, 2004.
    • (2004) Trends Neurosci , vol.27 , pp. 315-320
    • Dutzler, R.1
  • 46
    • 15544369856 scopus 로고    scopus 로고
    • Calcium-activated chloride channels (Un)known, (Un)loved?
    • Eggermont J. Calcium-activated chloride channels (Un)known, (Un)loved? Proc Am Thorac Soc 1: 22-27, 2004.
    • (2004) Proc Am Thorac Soc , vol.1 , pp. 22-27
    • Eggermont, J.1
  • 47
    • 0035752583 scopus 로고    scopus 로고
    • Cellular function and control of volume-regulated anion channels
    • Eggermont J, Trouet D, Carton I, Nilius B. Cellular function and control of volume-regulated anion channels. Cell Biochem Biophys 35: 263-274, 2001.
    • (2001) Cell Biochem Biophys , vol.35 , pp. 263-274
    • Eggermont, J.1    Trouet, D.2    Carton, I.3    Nilius, B.4
  • 48
    • 0021070747 scopus 로고
    • Ionic selectivity revisited: The role of kinetic and equilibrium processes in ion permeation through channels
    • Eisenman G, Horn R. Ionic selectivity revisited: the role of kinetic and equilibrium processes in ion permeation through channels. J Membr Biol 76: 197-225, 1983.
    • (1983) J Membr Biol , vol.76 , pp. 197-225
    • Eisenman, G.1    Horn, R.2
  • 49
    • 0027410970 scopus 로고
    • Retinal age pigments generated by self-assembling lysosomotropic detergents
    • Eldred GE, Lasky MR. Retinal age pigments generated by self-assembling lysosomotropic detergents. Nature 361: 724-726, 1993.
    • (1993) Nature , vol.361 , pp. 724-726
    • Eldred, G.E.1    Lasky, M.R.2
  • 50
    • 33847295773 scopus 로고    scopus 로고
    • VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family
    • Esumi N, Kachi S, Campochiaro PA, Zack DJ. VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family. J Biol Chem 282: 1838-1850, 2007.
    • (2007) J Biol Chem , vol.282 , pp. 1838-1850
    • Esumi, N.1    Kachi, S.2    Campochiaro, P.A.3    Zack, D.J.4
  • 51
    • 2442567892 scopus 로고    scopus 로고
    • Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation
    • Esumi N, Oshima Y, Li Y, Campochiaro PA, Zack DJ. Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation. J Biol Chem 279: 19064-19073, 2004.
    • (2004) J Biol Chem , vol.279 , pp. 19064-19073
    • Esumi, N.1    Oshima, Y.2    Li, Y.3    Campochiaro, P.A.4    Zack, D.J.5
  • 52
    • 0035033206 scopus 로고    scopus 로고
    • Ion permeation and selectivity in ClC-type chloride channels
    • Fahlke C. Ion permeation and selectivity in ClC-type chloride channels. Am J Physiol Renal Physiol 280: F748-F757, 2001.
    • (2001) Am J Physiol Renal Physiol , vol.280
    • Fahlke, C.1
  • 54
    • 1842725749 scopus 로고    scopus 로고
    • Intracellular chloride channels: Determinants of function in the endosomal pathway
    • Faundez V, Hartzell HC. Intracellular chloride channels: determinants of function in the endosomal pathway. Science STKE 2004: re8, 2004.
    • (2004) Science STKE , vol.2004
    • Faundez, V.1    Hartzell, H.C.2
  • 55
    • 0030695436 scopus 로고    scopus 로고
    • Phagocytosis of rod outer segments by retinal pigment epithelial cells requires alpha(v)beta5 integrin for binding but not for internalization
    • Finnemann SC, Bonilha VL, Marmorstein AD, Rodriguez-Boulan E. Phagocytosis of rod outer segments by retinal pigment epithelial cells requires alpha(v)beta5 integrin for binding but not for internalization. Proc Natl Acad Sci USA 94: 12932-12937, 1997.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 12932-12937
    • Finnemann, S.C.1    Bonilha, V.L.2    Marmorstein, A.D.3    Rodriguez-Boulan, E.4
  • 56
    • 33747410914 scopus 로고    scopus 로고
    • MerTK activation during RPE phagocytosis in vivo requires alphaVbeta5 integrin
    • Finnemann SC, Nandrot EF. MerTK activation during RPE phagocytosis in vivo requires alphaVbeta5 integrin. Adv Exp Med Biol 572: 499-503, 2006.
    • (2006) Adv Exp Med Biol , vol.572 , pp. 499-503
    • Finnemann, S.C.1    Nandrot, E.F.2
  • 57
    • 12744261265 scopus 로고    scopus 로고
    • Volume-sensitivity of the bestrophin family of chloride channels
    • Fischmeister R, Hartzell C. Volume-sensitivity of the bestrophin family of chloride channels. J Physiol 562: 477-491, 2005.
    • (2005) J Physiol , vol.562 , pp. 477-491
    • Fischmeister, R.1    Hartzell, C.2
  • 60
    • 2442645035 scopus 로고    scopus 로고
    • Finally, mice with CF lung disease
    • Frizzell RA, Pilewski JM. Finally, mice with CF lung disease. Nature Med 10: 452-454, 2004.
    • (2004) Nature Med , vol.10 , pp. 452-454
    • Frizzell, R.A.1    Pilewski, J.M.2
  • 62
    • 0023922123 scopus 로고    scopus 로고
    • Gallemore RP, Griff ER, Steinberg RH. Evidence in support of a photoreceptoral origin for the light-peak substance. Invest Ophthalmol Vis Sci 29: 566-571, 1988.
    • Gallemore RP, Griff ER, Steinberg RH. Evidence in support of a photoreceptoral origin for the "light-peak substance." Invest Ophthalmol Vis Sci 29: 566-571, 1988.
  • 63
    • 0030751723 scopus 로고    scopus 로고
    • Retinal pigment epithelial transport mechanisms and their contributions to the electroretinogram
    • Gallemore RP, Hughes BA, Miller SS. Retinal pigment epithelial transport mechanisms and their contributions to the electroretinogram. Prog Retinal Eye Res 16: 509-566, 1997.
    • (1997) Prog Retinal Eye Res , vol.16 , pp. 509-566
    • Gallemore, R.P.1    Hughes, B.A.2    Miller, S.S.3
  • 64
    • 42149156970 scopus 로고    scopus 로고
    • Gallemore RP, Hughes BA, Miller SS. Light-induced responses of the retinal pigment epithelium. In: The Retinal Pigment Epithelium, edited by Marmor MF, Wolfensberger TJ. Oxford, UK: Oxford Univ. Press, 1998, p. 175-198.
    • Gallemore RP, Hughes BA, Miller SS. Light-induced responses of the retinal pigment epithelium. In: The Retinal Pigment Epithelium, edited by Marmor MF, Wolfensberger TJ. Oxford, UK: Oxford Univ. Press, 1998, p. 175-198.
  • 65
    • 0026656037 scopus 로고
    • Mutations in the channel domain of a neuronal nicotinic receptor convert ion selectivity from cationic to anionic
    • Galzi JL, Devillers-Thiery A, Hussy N, Bertrand S, Changeux JP, Bertrand D. Mutations in the channel domain of a neuronal nicotinic receptor convert ion selectivity from cationic to anionic. Nature 359: 500-505, 1992.
    • (1992) Nature , vol.359 , pp. 500-505
    • Galzi, J.L.1    Devillers-Thiery, A.2    Hussy, N.3    Bertrand, S.4    Changeux, J.P.5    Bertrand, D.6
  • 67
    • 0031433105 scopus 로고    scopus 로고
    • Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids
    • Graff C, Eriksson A, Forsman K, Sandgren O, Holmgren G, Wadelius C. Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. Hum Genet 101: 263-270, 1997.
    • (1997) Hum Genet , vol.101 , pp. 263-270
    • Graff, C.1    Eriksson, A.2    Forsman, K.3    Sandgren, O.4    Holmgren, G.5    Wadelius, C.6
  • 69
    • 0028925751 scopus 로고
    • Signal transduction of phagocytosis
    • Greenberg S. Signal transduction of phagocytosis. Trends Cell Biol 5: 93-99, 1995.
    • (1995) Trends Cell Biol , vol.5 , pp. 93-99
    • Greenberg, S.1
  • 70
    • 0021038279 scopus 로고
    • Photoreceptor disc shedding in eye cups. Inhibition by deletion of extracellular divalent cations
    • Greenberger LM, Besharse JC. Photoreceptor disc shedding in eye cups. Inhibition by deletion of extracellular divalent cations. Invest Ophthalmol Vis Sci 24: 1456-1464, 1983.
    • (1983) Invest Ophthalmol Vis Sci , vol.24 , pp. 1456-1464
    • Greenberger, L.M.1    Besharse, J.C.2
  • 71
    • 0021972398 scopus 로고
    • Stimulation of photoreceptor disc shedding and pigment epithelial phagocytosis by glutamate, aspartate, other amino acids
    • Greenberger LM, Besharse JC. Stimulation of photoreceptor disc shedding and pigment epithelial phagocytosis by glutamate, aspartate, other amino acids. J Comp Neurol 239: 361-372, 1985.
    • (1985) J Comp Neurol , vol.239 , pp. 361-372
    • Greenberger, L.M.1    Besharse, J.C.2
  • 73
    • 33745670172 scopus 로고    scopus 로고
    • The genetics of age-related macular degeneration: A review of progress to date
    • Haddad S, Chen CA, Santangelo SL, Seddon JM. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol 51: 316-363, 2006.
    • (2006) Surv Ophthalmol , vol.51 , pp. 316-363
    • Haddad, S.1    Chen, C.A.2    Santangelo, S.L.3    Seddon, J.M.4
  • 74
    • 27144449969 scopus 로고    scopus 로고
    • The bestrophin family of anion channels: Identification of prokaryotic homologues
    • Hagen AR, Barabote RD, Saier MH. The bestrophin family of anion channels: identification of prokaryotic homologues. Mol Membr Biol 22: 291-302, 2005.
    • (2005) Mol Membr Biol , vol.22 , pp. 291-302
    • Hagen, A.R.1    Barabote, R.D.2    Saier, M.H.3
  • 75
    • 0026482971 scopus 로고
    • Electro-oculography in autosomal dominant vitreoretinochoroidopathy
    • Han DP, Lewandowski MF. Electro-oculography in autosomal dominant vitreoretinochoroidopathy. Arch Ophthalmol 110: 1563-1567, 1992.
    • (1992) Arch Ophthalmol , vol.110 , pp. 1563-1567
    • Han, D.P.1    Lewandowski, M.F.2
  • 77
    • 0037497058 scopus 로고    scopus 로고
    • Chloride currents in acutely isolated Xenopus retinal pigment epithelial cells
    • Hartzell HC, Qu Z. Chloride currents in acutely isolated Xenopus retinal pigment epithelial cells. J Physiol 549: 453-469, 2003.
    • (2003) J Physiol , vol.549 , pp. 453-469
    • Hartzell, H.C.1    Qu, Z.2
  • 78
    • 26844540936 scopus 로고    scopus 로고
    • Looking chloride channels straight in the eye: Bestrophins, lipofuscinosis, retinal degeneration
    • Hartzell HC, Qu Z, Putzier I, Artinian L, Chien LT, Cui Y. Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, retinal degeneration. Physiology 20: 292-302, 2005.
    • (2005) Physiology , vol.20 , pp. 292-302
    • Hartzell, H.C.1    Qu, Z.2    Putzier, I.3    Artinian, L.4    Chien, L.T.5    Cui, Y.6
  • 79
    • 0023821990 scopus 로고
    • - channels in cultured human epithelial cells
    • - channels in cultured human epithelial cells. J Physiol 402: 687-702, 1988.
    • (1988) J Physiol , vol.402 , pp. 687-702
    • Hazama, A.1    Okada, Y.2
  • 80
    • 9444249961 scopus 로고    scopus 로고
    • Taurine uptake by human retinal pigment epithelium: Implications for the transport of small solutes between the choroid and the outer retina
    • Hillenkamp J, Hussain AA, Jackson TL, Cunningham JR, Marshall J. Taurine uptake by human retinal pigment epithelium: implications for the transport of small solutes between the choroid and the outer retina. Invest Ophthalmol Visual Sci 45: 4529-4534, 2004.
    • (2004) Invest Ophthalmol Visual Sci , vol.45 , pp. 4529-4534
    • Hillenkamp, J.1    Hussain, A.A.2    Jackson, T.L.3    Cunningham, J.R.4    Marshall, J.5
  • 81
    • 0024594966 scopus 로고
    • Membrane mechanisms in volume and pH regulation in vertebrate cells
    • Hoffmann EK, Simonsen LO. Membrane mechanisms in volume and pH regulation in vertebrate cells. Physiol Rev 69: 315-382, 1989.
    • (1989) Physiol Rev , vol.69 , pp. 315-382
    • Hoffmann, E.K.1    Simonsen, L.O.2
  • 82
    • 42149125864 scopus 로고    scopus 로고
    • 79a.Horling F. VMD2 Database Institute of Human Genetics, University of Regensburg, 2006 (http://www-huge.uni-regensburg.de/VMD2-database/ index.php?select_db-VMD2).
    • 79a.Horling F. VMD2 Database Institute of Human Genetics, University of Regensburg, 2006 (http://www-huge.uni-regensburg.de/VMD2-database/ index.php?select_db-VMD2).
  • 84
    • 0026564168 scopus 로고
    • Light-evoked expansion of subretinal space volume in the retina of the frog
    • Huang B, Karwoski CJ. Light-evoked expansion of subretinal space volume in the retina of the frog. J Neurosci 12: 4243-4252, 1992.
    • (1992) J Neurosci , vol.12 , pp. 4243-4252
    • Huang, B.1    Karwoski, C.J.2
  • 86
    • 42149118145 scopus 로고    scopus 로고
    • Hughes BA, Gallemore RP, Miller SS. Transport mechanisms in the retinal pigment epithelium. In: The Retinal Pigment Epithelium, edited by Marmor MF, Wolfensberger TJ. Oxford, UK: Oxford Univ. Press, 1998, p. 103-134.
    • Hughes BA, Gallemore RP, Miller SS. Transport mechanisms in the retinal pigment epithelium. In: The Retinal Pigment Epithelium, edited by Marmor MF, Wolfensberger TJ. Oxford, UK: Oxford Univ. Press, 1998, p. 103-134.
  • 87
    • 0027234394 scopus 로고
    • cAMP-activated chloride currents in amphibian retinal pigment epithelial cells
    • Hughes BA, Segawa Y. cAMP-activated chloride currents in amphibian retinal pigment epithelial cells. J Physiol 466: 749-766, 1993.
    • (1993) J Physiol , vol.466 , pp. 749-766
    • Hughes, B.A.1    Segawa, Y.2
  • 88
    • 0030007743 scopus 로고    scopus 로고
    • Single channel properties of a volume sensitive anion channel: Lessons from noise analysis
    • Jackson PS, Strange K. Single channel properties of a volume sensitive anion channel: lessons from noise analysis. Kidney Int 49: 1695-1699, 1996.
    • (1996) Kidney Int , vol.49 , pp. 1695-1699
    • Jackson, P.S.1    Strange, K.2
  • 89
    • 0023785942 scopus 로고
    • Histopathologic features of adult-onset foveomacular pigment epithelial dystrophy
    • Jaffe GJ, Schatz H. Histopathologic features of adult-onset foveomacular pigment epithelial dystrophy. Arch Ophthalmol 106: 958-960, 1988.
    • (1988) Arch Ophthalmol , vol.106 , pp. 958-960
    • Jaffe, G.J.1    Schatz, H.2
  • 90
    • 33846517681 scopus 로고    scopus 로고
    • Chloride and the endosomal-lysosomal pathway: Emerging roles of CLC chloride transporters
    • Jentsch TJ. Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters. J Physiol 578: 633-640, 2007.
    • (2007) J Physiol , vol.578 , pp. 633-640
    • Jentsch, T.J.1
  • 91
    • 0036083537 scopus 로고    scopus 로고
    • Molecular structure and physiological function of chloride channels
    • Jentsch TJ, Stein V, Weinreich F, Zdebik AA. Molecular structure and physiological function of chloride channels. Physiol Rev 82: 503-568, 2002.
    • (2002) Physiol Rev , vol.82 , pp. 503-568
    • Jentsch, T.J.1    Stein, V.2    Weinreich, F.3    Zdebik, A.A.4
  • 93
    • 0025810410 scopus 로고
    • Apical and basal membrane ion transport mechanisms in bovine retinal pigment epithelium
    • Joseph DP, Miller SS. Apical and basal membrane ion transport mechanisms in bovine retinal pigment epithelium. J Physiol 435: 439-463, 1991.
    • (1991) J Physiol , vol.435 , pp. 439-463
    • Joseph, D.P.1    Miller, S.S.2
  • 94
    • 33645957673 scopus 로고    scopus 로고
    • Sustained expression after nonviral ocular gene transfer using mammalian promoters
    • Kachi S, Esumi N, Zack DJ, Campochiaro PA. Sustained expression after nonviral ocular gene transfer using mammalian promoters. Gene Ther 13: 798-804, 2006.
    • (2006) Gene Ther , vol.13 , pp. 798-804
    • Kachi, S.1    Esumi, N.2    Zack, D.J.3    Campochiaro, P.A.4
  • 95
    • 0031913343 scopus 로고    scopus 로고
    • Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family
    • Kellner U, Jandeck C, Kraus H, Foerster MH. Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family. Graefes Arch Clin Exp Ophthalmol 236: 109-114, 1998.
    • (1998) Graefes Arch Clin Exp Ophthalmol , vol.236 , pp. 109-114
    • Kellner, U.1    Jandeck, C.2    Kraus, H.3    Foerster, M.H.4
  • 96
    • 0028152158 scopus 로고
    • Volume regulation in cultured cells derived from human rertinal pigment epithelium
    • Kennedy BG. Volume regulation in cultured cells derived from human rertinal pigment epithelium. Am J Physiol Cell Physiol 266: C676-C683, 1994.
    • (1994) Am J Physiol Cell Physiol , vol.266
    • Kennedy, B.G.1
  • 97
    • 0035999831 scopus 로고    scopus 로고
    • Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity
    • Keramidas A, Moorhouse AJ, Pierce KD, Schofield PR, Barry PH. Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity. J Gen Physiol 119: 393-410, 2002.
    • (2002) J Gen Physiol , vol.119 , pp. 393-410
    • Keramidas, A.1    Moorhouse, A.J.2    Pierce, K.D.3    Schofield, P.R.4    Barry, P.H.5
  • 98
    • 9644275230 scopus 로고    scopus 로고
    • - channels are expressed in human normal monocytes: A functional role in migration, adhesion and volume change
    • - channels are expressed in human normal monocytes: a functional role in migration, adhesion and volume change. Clin Exp Immunol 138: 453-459, 2004.
    • (2004) Clin Exp Immunol , vol.138 , pp. 453-459
    • Kim, M.J.1    Cheng, G.2    Agrawal, D.K.3
  • 100
    • 1942513832 scopus 로고    scopus 로고
    • Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)
    • Kramer F, Mohr N, Kellner U, Rudolph G, Weber BH. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Hum Mutat 22: 418, 2003.
    • (2003) Hum Mutat , vol.22 , pp. 418
    • Kramer, F.1    Mohr, N.2    Kellner, U.3    Rudolph, G.4    Weber, B.H.5
  • 101
    • 3042550494 scopus 로고    scopus 로고
    • Cloning and characterization of the murine Vmd2 RFP-TM gene family
    • Kramer F, Stohr H, Weber BH. Cloning and characterization of the murine Vmd2 RFP-TM gene family. Cytogen Genome Res 105: 107-114, 2004.
    • (2004) Cytogen Genome Res , vol.105 , pp. 107-114
    • Kramer, F.1    Stohr, H.2    Weber, B.H.3
  • 103
    • 0029997531 scopus 로고    scopus 로고
    • Component characteristics of the vectorial transport system for taurine in isolated bovine retinal pigment epithelium
    • Kundaiker S, Hussain AA, Marshall J. Component characteristics of the vectorial transport system for taurine in isolated bovine retinal pigment epithelium. J Physiol 492: 505-516, 1996.
    • (1996) J Physiol , vol.492 , pp. 505-516
    • Kundaiker, S.1    Hussain, A.A.2    Marshall, J.3
  • 104
    • 34548306410 scopus 로고    scopus 로고
    • Calcium-dependent chloride conductance in epithelia: Is there a contribution by Bestrophin?
    • Kunzelmann K, Milenkovic VM, Spitzner M, Soria RB, Schreiber R. Calcium-dependent chloride conductance in epithelia: is there a contribution by Bestrophin? Pflügers Arch 454: 879-889, 2007.
    • (2007) Pflügers Arch , vol.454 , pp. 879-889
    • Kunzelmann, K.1    Milenkovic, V.M.2    Spitzner, M.3    Soria, R.B.4    Schreiber, R.5
  • 106
  • 108
    • 0020953989 scopus 로고
    • Outer segment disc shedding and phagocytosis in the outer retina
    • LaVail MM. Outer segment disc shedding and phagocytosis in the outer retina. Trans Ophthalmol Soc UK 103: 397-404, 1983.
    • (1983) Trans Ophthalmol Soc UK , vol.103 , pp. 397-404
    • LaVail, M.M.1
  • 110
    • 0028274878 scopus 로고
    • Light-dependent hydration of the space surrounding photoreceptors in chick retina
    • Li JD, Gallemore RP, Dmitriev A, Steinberg RH. Light-dependent hydration of the space surrounding photoreceptors in chick retina. Invest Ophthalmol Vis Sci 35: 2700-2711, 1994.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 2700-2711
    • Li, J.D.1    Gallemore, R.P.2    Dmitriev, A.3    Steinberg, R.H.4
  • 112
    • 0025781906 scopus 로고
    • pHi regulation in frog retinal pigment epithelium: Two apical membrane mechanisms
    • Lin H, Miller SS. pHi regulation in frog retinal pigment epithelium: two apical membrane mechanisms. Am J Physiol Cell Physiol 261: C132-C142, 1991.
    • (1991) Am J Physiol Cell Physiol , vol.261
    • Lin, H.1    Miller, S.S.2
  • 113
    • 0020000231 scopus 로고
    • Origin and sensitivity of the light peak in the intact cat eye
    • Linsenmeier RA, Steinberg RH. Origin and sensitivity of the light peak in the intact cat eye. J Physiol 331: 653-673, 1982.
    • (1982) J Physiol , vol.331 , pp. 653-673
    • Linsenmeier, R.A.1    Steinberg, R.H.2
  • 115
    • 35448995276 scopus 로고    scopus 로고
    • The endogenous calcium-activated Cl channel in Xenopus oocytes: A physiologically and biophysically rich model system
    • edited by Fuller CM. San Diego, CA: Academic
    • Machaca K, Qu Z, Kuruma A, Hartzell HC, McCarty N. The endogenous calcium-activated Cl channel in Xenopus oocytes: a physiologically and biophysically rich model system. In: Calcium-Activated Chloride Channels, edited by Fuller CM. San Diego, CA: Academic, 2002, p. 3-39.
    • (2002) Calcium-Activated Chloride Channels , pp. 3-39
    • Machaca, K.1    Qu, Z.2    Kuruma, A.3    Hartzell, H.C.4    McCarty, N.5
  • 116
    • 12144290828 scopus 로고    scopus 로고
    • Expression of glutamate transporter subtypes in cultured retinal pigment epithelial and retinoblastoma cells
    • Maenpaa H, Gegelashvili G, Tahti H. Expression of glutamate transporter subtypes in cultured retinal pigment epithelial and retinoblastoma cells. Curr Eye Res 28: 159-165, 2004.
    • (2004) Curr Eye Res , vol.28 , pp. 159-165
    • Maenpaa, H.1    Gegelashvili, G.2    Tahti, H.3
  • 118
    • 0031971845 scopus 로고    scopus 로고
    • Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy
    • Mansergh F, Meitinger T, Rodolph G, Humphries P, Farrar GJ. Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy. J Med Genet 35: 85-86, 1998.
    • (1998) J Med Genet , vol.35 , pp. 85-86
    • Mansergh, F.1    Meitinger, T.2    Rodolph, G.3    Humphries, P.4    Farrar, G.J.5
  • 120
    • 34247257159 scopus 로고    scopus 로고
    • The challenge of modeling macular degeneration in mice
    • Marmorstein AD, Marmorstein LY. The challenge of modeling macular degeneration in mice. Trends Genet 23: 225-231, 2007.
    • (2007) Trends Genet , vol.23 , pp. 225-231
    • Marmorstein, A.D.1    Marmorstein, L.Y.2
  • 121
    • 0033739625 scopus 로고    scopus 로고
    • Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral membrane of the retinal pigment epithelium
    • Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral membrane of the retinal pigment epithelium. Proc Natl Acad Sci USA 97: 12758-12763, 2000.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 12758-12763
    • Marmorstein, A.D.1    Marmorstein, L.Y.2    Rayborn, M.3    Wang, X.4    Hollyfield, J.G.5    Petrukhin, K.6
  • 127
    • 0031709885 scopus 로고    scopus 로고
    • Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
    • Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BH. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet 7: 1517-1525, 1998.
    • (1998) Hum Mol Genet , vol.7 , pp. 1517-1525
    • Marquardt, A.1    Stohr, H.2    Passmore, L.A.3    Kramer, F.4    Rivera, A.5    Weber, B.H.6
  • 128
    • 0023257672 scopus 로고
    • Membrane turnover in rod photoreceptors: Ensheathment and phagocytosis of outer segment distal tips by pseudopodia of the retinal pigment epithelium
    • Matsumoto B, Defoe DM, Besharse JC. Membrane turnover in rod photoreceptors: ensheathment and phagocytosis of outer segment distal tips by pseudopodia of the retinal pigment epithelium. Proc R Soc Lond B Biol Sci 230: 339-354, 1987.
    • (1987) Proc R Soc Lond B Biol Sci , vol.230 , pp. 339-354
    • Matsumoto, B.1    Defoe, D.M.2    Besharse, J.C.3
  • 129
    • 0026483703 scopus 로고
    • Calcium signaling in cell volume regulation
    • McCarty NA, O'Neil RG. Calcium signaling in cell volume regulation. Physiol Rev 72: 1037-1061, 1992.
    • (1992) Physiol Rev , vol.72 , pp. 1037-1061
    • McCarty, N.A.1    O'Neil, R.G.2
  • 130
    • 0030731399 scopus 로고    scopus 로고
    • Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele
    • McGee TL, Devoto M, Ott J, Berson EL, Dryja TP. Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet 61: 1059-1066, 1997.
    • (1997) Am J Hum Genet , vol.61 , pp. 1059-1066
    • McGee, T.L.1    Devoto, M.2    Ott, J.3    Berson, E.L.4    Dryja, T.P.5
  • 131
    • 15744386914 scopus 로고    scopus 로고
    • CFTR: More than just a chloride channel
    • Mehta A. CFTR: more than just a chloride channel. Ped Pulmon 39: 292-298, 2005.
    • (2005) Ped Pulmon , vol.39 , pp. 292-298
    • Mehta, A.1
  • 132
    • 2342456449 scopus 로고    scopus 로고
    • Best's vitelliform macular dystrophy with pseudohypopyon: An optical coherence tomography study
    • Men G, Batioglu F, Ozkan SS, Atilla H, Ozdamar Y, Aslan O. Best's vitelliform macular dystrophy with pseudohypopyon: an optical coherence tomography study. Am J Ophthalmol 137: 963-965, 2004.
    • (2004) Am J Ophthalmol , vol.137 , pp. 963-965
    • Men, G.1    Batioglu, F.2    Ozkan, S.S.3    Atilla, H.4    Ozdamar, Y.5    Aslan, O.6
  • 133
    • 33847699386 scopus 로고    scopus 로고
    • Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane
    • Milenkovic VM, Rivera A, Horling F, Weber BHF. Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. J Biol Chem 282: 1313-1321, 2007.
    • (2007) J Biol Chem , vol.282 , pp. 1313-1321
    • Milenkovic, V.M.1    Rivera, A.2    Horling, F.3    Weber, B.H.F.4
  • 134
    • 0344370492 scopus 로고
    • Modifications of the human eye potential by light and dark adaptation
    • Miles WR. Modifications of the human eye potential by light and dark adaptation. Science 91: 1940.
    • (1940) Science , vol.91
    • Miles, W.R.1
  • 135
    • 33645296826 scopus 로고    scopus 로고
    • ClC chloride channels viewed through a transporter lens
    • Miller C. ClC chloride channels viewed through a transporter lens. Nature 440: 484-489, 2006.
    • (2006) Nature , vol.440 , pp. 484-489
    • Miller, C.1
  • 137
    • 0017729851 scopus 로고
    • Active transport of ions across frog retinal pigment epithelium
    • Miller SS, Steinberg RH. Active transport of ions across frog retinal pigment epithelium. Exp Eye Res 25: 235-248, 1977.
    • (1977) Exp Eye Res , vol.25 , pp. 235-248
    • Miller, S.S.1    Steinberg, R.H.2
  • 138
    • 0018428708 scopus 로고
    • Potassium modulation of taurine transport across the frog retinal pigment epithelium
    • Miller SS, Steinberg RH. Potassium modulation of taurine transport across the frog retinal pigment epithelium. J Gen Physiol 74: 237-259, 1979.
    • (1979) J Gen Physiol , vol.74 , pp. 237-259
    • Miller, S.S.1    Steinberg, R.H.2
  • 139
    • 0028081206 scopus 로고
    • +-dependent glutamate transporter in human retinal pigment epithelial cells
    • +-dependent glutamate transporter in human retinal pigment epithelial cells. Invest Ophthalmol Vis Sci 35: 3589-3598, 1994.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 3589-3598
    • Miyamoto, Y.1    Del Monte, M.2
  • 140
    • 0019421925 scopus 로고
    • Long-term evaluation of patients with Best's vitelliform dystrophy
    • Mohler CW, Fine SL. Long-term evaluation of patients with Best's vitelliform dystrophy. Ophthalmology 88: 688-692, 1981.
    • (1981) Ophthalmology , vol.88 , pp. 688-692
    • Mohler, C.W.1    Fine, S.L.2
  • 141
    • 33744963881 scopus 로고    scopus 로고
    • Anion channels, including ClC-3, are required for normal neutrophil oxidative function, phagocytosis, transendothelial migration
    • Moreland JG, Davis AP, Bailey G, Nauseef WM, Lamb F. Anion channels, including ClC-3, are required for normal neutrophil oxidative function, phagocytosis, transendothelial migration. J Biol Chem 281: 12277-12288, 2006.
    • (2006) J Biol Chem , vol.281 , pp. 12277-12288
    • Moreland, J.G.1    Davis, A.P.2    Bailey, G.3    Nauseef, W.M.4    Lamb, F.5
  • 142
    • 34548106017 scopus 로고    scopus 로고
    • Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease
    • Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci 48: 3372-3380, 2007.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 3372-3380
    • Mullins, R.F.1    Kuehn, M.H.2    Faidley, E.A.3    Syed, N.A.4    Stone, E.M.5
  • 143
    • 27744527044 scopus 로고    scopus 로고
    • Late development of vitelliform lesions and flecks in a patient with Best Disease
    • Mullins RF, Oh KT, Heffron E, Hameman GS, Stone EM. Late development of vitelliform lesions and flecks in a patient with Best Disease. Arch Ophthalmol 123: 1588-1594, 2006.
    • (2006) Arch Ophthalmol , vol.123 , pp. 1588-1594
    • Mullins, R.F.1    Oh, K.T.2    Heffron, E.3    Hameman, G.S.4    Stone, E.M.5
  • 145
    • 11844259978 scopus 로고    scopus 로고
    • Loss of synchronized retinal phagocytosis and agerelated blindness in mice lacking alphaV beta5 integrin
    • Nandrot EF, Kim Y, Brodie SE, Huang X, Sheppard D, Finnemann SC. Loss of synchronized retinal phagocytosis and agerelated blindness in mice lacking alphaV beta5 integrin. J Exp Med 200: 1539-1545, 2004.
    • (2004) J Exp Med , vol.200 , pp. 1539-1545
    • Nandrot, E.F.1    Kim, Y.2    Brodie, S.E.3    Huang, X.4    Sheppard, D.5    Finnemann, S.C.6
  • 146
    • 0034098575 scopus 로고    scopus 로고
    • Renewal of photoreceptor outer segments and their phagocytosis by the retinal pigment epithelium
    • Nguyen-Legros J, Hicks D. Renewal of photoreceptor outer segments and their phagocytosis by the retinal pigment epithelium. Int Rev Cytol 196: 245-313, 2000.
    • (2000) Int Rev Cytol , vol.196 , pp. 245-313
    • Nguyen-Legros, J.1    Hicks, D.2
  • 147
    • 0028180063 scopus 로고
    • Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1
    • Nichols BE, Bascom R, Litt M, McInnes R, Sheffield VC, Stone EM. Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. Am J Hum Genet 54: 95-103, 1994.
    • (1994) Am J Hum Genet , vol.54 , pp. 95-103
    • Nichols, B.E.1    Bascom, R.2    Litt, M.3    McInnes, R.4    Sheffield, V.C.5    Stone, E.M.6
  • 148
    • 0035078695 scopus 로고    scopus 로고
    • Retinal research using the perfused mammalian eye
    • Niemeyer G. Retinal research using the perfused mammalian eye. Prog Retinal Eye Res 20: 289-318, 2001.
    • (2001) Prog Retinal Eye Res , vol.20 , pp. 289-318
    • Niemeyer, G.1
  • 149
    • 0037318653 scopus 로고    scopus 로고
    • Amazing chloride channels: An overview
    • Nilius B, Droogmans G. Amazing chloride channels: an overview. Acta Physiol Scand 177: 119-147, 2003.
    • (2003) Acta Physiol Scand , vol.177 , pp. 119-147
    • Nilius, B.1    Droogmans, G.2
  • 151
    • 0342401161 scopus 로고
    • Azide sensitive potential difference across the eye bulb
    • Noell W. Azide sensitive potential difference across the eye bulb. Am J Physiol 170: 217-238, 1952.
    • (1952) Am J Physiol , vol.170 , pp. 217-238
    • Noell, W.1
  • 152
    • 50449132689 scopus 로고
    • The origin of the electroretinogram
    • Noell W. The origin of the electroretinogram. Am J Ophthalmol 38: 78-90, 1954.
    • (1954) Am J Ophthalmol , vol.38 , pp. 78-90
    • Noell, W.1
  • 153
    • 0017029992 scopus 로고
    • Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden
    • Nordstrom S, Barkman Y. Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden. Hereditas 84: 163-176, 1977.
    • (1977) Hereditas , vol.84 , pp. 163-176
    • Nordstrom, S.1    Barkman, Y.2
  • 154
    • 0018936196 scopus 로고
    • Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children
    • Nordstrom S, Thorburn W. Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children. Clin Genet 18: 211-216, 1980.
    • (1980) Clin Genet , vol.18 , pp. 211-216
    • Nordstrom, S.1    Thorburn, W.2
  • 155
  • 158
    • 35148899603 scopus 로고    scopus 로고
    • Permissive role of calcium on regulatory volume decrease in freshly isolated mouse cholangiocytes
    • Park JS, Choi YJ, Siegrist VJ, Ko YS, Cho WK. Permissive role of calcium on regulatory volume decrease in freshly isolated mouse cholangiocytes. Pflügers Arch 455: 262-271, 2007.
    • (2007) Pflügers Arch , vol.455 , pp. 262-271
    • Park, J.S.1    Choi, Y.J.2    Siegrist, V.J.3    Ko, Y.S.4    Cho, W.K.5
  • 159
    • 0022453463 scopus 로고
    • Transport of acidic amino acids by the bovine pigment epithelium
    • Pautler EL, Tengerdy C. Transport of acidic amino acids by the bovine pigment epithelium. Exp Eye Res 43: 207-214, 1986.
    • (1986) Exp Eye Res , vol.43 , pp. 207-214
    • Pautler, E.L.1    Tengerdy, C.2
  • 160
    • 0030961546 scopus 로고    scopus 로고
    • Extracellular ATP activates calcium signaling, ion, and fluid transport in retinal pigment epithelium
    • Peterson WM, Meggyesy C, Yu K, Miller SS. Extracellular ATP activates calcium signaling, ion, and fluid transport in retinal pigment epithelium. J Neurosci 17: 2324-2337, 1997.
    • (1997) J Neurosci , vol.17 , pp. 2324-2337
    • Peterson, W.M.1    Meggyesy, C.2    Yu, K.3    Miller, S.S.4
  • 161
    • 0029559376 scopus 로고
    • Identification and functional characterization of a dual GABA/taurine transporter in the bullfrog retinal pigment epithelium
    • Peterson WM, Miller SS. Identification and functional characterization of a dual GABA/taurine transporter in the bullfrog retinal pigment epithelium. J Gen Physiol 106: 1089-1122, 1995.
    • (1995) J Gen Physiol , vol.106 , pp. 1089-1122
    • Peterson, W.M.1    Miller, S.S.2
  • 164
    • 0036845772 scopus 로고    scopus 로고
    • Optical coherence tomography findings in adult-onset foveomacular vitelliform dystrophy
    • Pierro L, Tremolada G, Introini U, Calori G, Brancato R. Optical coherence tomography findings in adult-onset foveomacular vitelliform dystrophy. Am J Ophthalmol 134: 675-680, 2002.
    • (2002) Am J Ophthalmol , vol.134 , pp. 675-680
    • Pierro, L.1    Tremolada, G.2    Introini, U.3    Calori, G.4    Brancato, R.5
  • 166
    • 25444521497 scopus 로고    scopus 로고
    • Best's disease with normal EOG. Case report of familial macular dystrophy]
    • Pollack K, Kreuz FR, Pillunat LE. [Best's disease with normal EOG. Case report of familial macular dystrophy]. Ophthalmologie 102: 891-894, 2005.
    • (2005) Ophthalmologie , vol.102 , pp. 891-894
    • Pollack, K.1    Kreuz, F.R.2    Pillunat, L.E.3
  • 168
    • 1842736454 scopus 로고    scopus 로고
    • 2+-activated chloride channels go molecular
    • 2+-activated chloride channels go molecular. J Gen Physiol 123: 323-325, 2004.
    • (2004) J Gen Physiol , vol.123 , pp. 323-325
    • Pusch, M.1
  • 170
    • 33645227482 scopus 로고    scopus 로고
    • A short motif in the C-terminus of mouse bestrophin 4 inhibits its activation as a Cl channel
    • Qu Z, Cui Y, Hartzell C. A short motif in the C-terminus of mouse bestrophin 4 inhibits its activation as a Cl channel. FEBS Lett 580: 2141-2146, 2006.
    • (2006) FEBS Lett , vol.580 , pp. 2141-2146
    • Qu, Z.1    Cui, Y.2    Hartzell, C.3
  • 171
    • 1842686247 scopus 로고    scopus 로고
    • - channel: Identification of a residue important in anion binding and conduction
    • - channel: identification of a residue important in anion binding and conduction. J Gen Physiol 123: 327-340, 2004.
    • (2004) J Gen Physiol , vol.123 , pp. 327-340
    • Qu, Z.1    Fischmeister, R.2    Hartzell, H.C.3
  • 172
    • 5144226606 scopus 로고    scopus 로고
    • Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel
    • Qu Z, Hartzell HC. Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel. J Gen Physiol 124: 371-382, 2004.
    • (2004) J Gen Physiol , vol.124 , pp. 371-382
    • Qu, Z.1    Hartzell, H.C.2
  • 173
    • 0842345301 scopus 로고    scopus 로고
    • Two bestrophins cloned from Xenopus laevis oocytes express Ca-activated Cl currents
    • Qu Z, Wei RW, Mann W, Hartzell HC. Two bestrophins cloned from Xenopus laevis oocytes express Ca-activated Cl currents. J Biol Chem 278: 49563-49572, 2003.
    • (2003) J Biol Chem , vol.278 , pp. 49563-49572
    • Qu, Z.1    Wei, R.W.2    Mann, W.3    Hartzell, H.C.4
  • 174
    • 33744966864 scopus 로고    scopus 로고
    • The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration
    • Qu Z, Chien LT, Cui Y, Hartzell HC. The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration. J Neurosci 26: 5411-5419, 2006.
    • (2006) J Neurosci , vol.26 , pp. 5411-5419
    • Qu, Z.1    Chien, L.T.2    Cui, Y.3    Hartzell, H.C.4
  • 175
    • 34547131584 scopus 로고    scopus 로고
    • Activation of bestrophin Cl channels is regulated by C-terminal domains
    • Qu Z, Yu K, Cui Y, Ying C, Hartzell C. Activation of bestrophin Cl channels is regulated by C-terminal domains. J Biol Chem 282: 17460-17467, 2007.
    • (2007) J Biol Chem , vol.282 , pp. 17460-17467
    • Qu, Z.1    Yu, K.2    Cui, Y.3    Ying, C.4    Hartzell, C.5
  • 176
    • 0026618868 scopus 로고
    • Ion transport mechanisms in native human retinal pigment epithelium
    • Quinn RH, Miller SS. Ion transport mechanisms in native human retinal pigment epithelium. Invest Ophthalmol Vis Sci 33: 3513-3527, 1992.
    • (1992) Invest Ophthalmol Vis Sci , vol.33 , pp. 3513-3527
    • Quinn, R.H.1    Miller, S.S.2
  • 177
    • 0141736796 scopus 로고    scopus 로고
    • The Ca-activated Cl channel and its control in rat olfactory receptor neurons
    • Reisert J, Bauer PJ, Yau KW, Frings S. The Ca-activated Cl channel and its control in rat olfactory receptor neurons. J Gen Physiol 122: 349-363, 2003.
    • (2003) J Gen Physiol , vol.122 , pp. 349-363
    • Reisert, J.1    Bauer, P.J.2    Yau, K.W.3    Frings, S.4
  • 183
    • 0018144252 scopus 로고
    • Taurine fluxes in isolated cat and rat retinas: Effects of illumination
    • Schmidt SY. Taurine fluxes in isolated cat and rat retinas: effects of illumination. Exp Eye Res 26: 529-535, 1978.
    • (1978) Exp Eye Res , vol.26 , pp. 529-535
    • Schmidt, S.Y.1
  • 186
    • 0034759030 scopus 로고    scopus 로고
    • Assessment of mutations in the best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, bull's-eye maculopathy
    • Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R. Assessment of mutations in the best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, bull's-eye maculopathy. Ophthalmology 108: 2060-2067, 2001.
    • (2001) Ophthalmology , vol.108 , pp. 2060-2067
    • Seddon, J.M.1    Afshari, M.A.2    Sharma, S.3    Bernstein, P.S.4    Chong, S.5    Hutchinson, A.6    Petrukhin, K.7    Allikmets, R.8
  • 187
  • 189
    • 18044366931 scopus 로고    scopus 로고
    • RPE lipofuscin and its role in retinal pathobiology
    • Sparrow JR, Boulton M. RPE lipofuscin and its role in retinal pathobiology. Exp Eye Res 80: 595-606, 2005.
    • (2005) Exp Eye Res , vol.80 , pp. 595-606
    • Sparrow, J.R.1    Boulton, M.2
  • 191
    • 0023549671 scopus 로고
    • Monitoring communications between photoreceptors and pigment epithelial cells. Effects of "mild" systemic hypoxia
    • Steinberg RH. Monitoring communications between photoreceptors and pigment epithelial cells. Effects of "mild" systemic hypoxia. Invest Ophthalmol Vis Sci 28: 1881-1904, 1987.
    • (1987) Invest Ophthalmol Vis Sci , vol.28 , pp. 1881-1904
    • Steinberg, R.H.1
  • 192
    • 0017880866 scopus 로고
    • Initial observations on the isolated retinal pigment epithelium-choroid of the cat
    • Steinberg RH, Miller SS, Stern WH. Initial observations on the isolated retinal pigment epithelium-choroid of the cat. Invest Ophthalmol Vis Sci 17: 675-678, 1978.
    • (1978) Invest Ophthalmol Vis Sci , vol.17 , pp. 675-678
    • Steinberg, R.H.1    Miller, S.S.2    Stern, W.H.3
  • 194
    • 0036077892 scopus 로고    scopus 로고
    • Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family
    • Stohr H, Marquardt A, Nanda I, Schmid M, Weber BH. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet 10: 281-284, 2002.
    • (2002) Eur J Hum Genet , vol.10 , pp. 281-284
    • Stohr, H.1    Marquardt, A.2    Nanda, I.3    Schmid, M.4    Weber, B.H.5
  • 196
    • 0026895234 scopus 로고
    • Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
    • Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1: 246-250, 1992.
    • (1992) Nat Genet , vol.1 , pp. 246-250
    • Stone, E.M.1    Nichols, B.E.2    Streb, L.M.3    Kimura, A.E.4    Sheffield, V.C.5
  • 197
    • 21244451958 scopus 로고    scopus 로고
    • The retinal pigment epithelium in visual function
    • Strauss O. The retinal pigment epithelium in visual function. Physiol Rev 85: 845-881, 2005.
    • (2005) Physiol Rev , vol.85 , pp. 845-881
    • Strauss, O.1
  • 198
    • 0037133670 scopus 로고    scopus 로고
    • The vitelliform macular dystrophy protein defines a new family of chloride channels
    • Sun H, Tsunenari T, Yau KW, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci USA 99: 4008-4013, 2002.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 4008-4013
    • Sun, H.1    Tsunenari, T.2    Yau, K.W.3    Nathans, J.4
  • 200
    • 0030970918 scopus 로고    scopus 로고
    • EOG bei adulter vitellifromer Makuladegeration (AVMD) schmetterlingsformiger Patterndystrophie und Morbus Best
    • Theischen M, Schilling H, Steinhorst UH. EOG bei adulter vitellifromer Makuladegeration (AVMD) schmetterlingsformiger Patterndystrophie und Morbus Best. Ophthalmologie 94: 230-233, 1997.
    • (1997) Ophthalmologie , vol.94 , pp. 230-233
    • Theischen, M.1    Schilling, H.2    Steinhorst, U.H.3
  • 202
    • 33744470320 scopus 로고    scopus 로고
    • - current from human bestrophin-4 in excised membrane patches
    • - current from human bestrophin-4 in excised membrane patches. J Gen Physiol 127: 749-754, 2006.
    • (2006) J Gen Physiol , vol.127 , pp. 749-754
    • Tsunenari, T.1    Nathans, J.2    Yau, K.W.3
  • 203
    • 14244263812 scopus 로고    scopus 로고
    • Optical coherence tomography in Best's disease: An observational case report
    • Vedantham V, Ramasamy K. Optical coherence tomography in Best's disease: an observational case report. Am J Ophthalmol 139: 351-353, 2005.
    • (2005) Am J Ophthalmol , vol.139 , pp. 351-353
    • Vedantham, V.1    Ramasamy, K.2
  • 204
    • 33750991867 scopus 로고    scopus 로고
    • Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy
    • Wabbels B, Preising MN, Kretschmann U, Demmler A, Lorenz B. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol 244: 1453-1466, 2006.
    • (2006) Graefes Arch Clin Exp Ophthalmol , vol.244 , pp. 1453-1466
    • Wabbels, B.1    Preising, M.N.2    Kretschmann, U.3    Demmler, A.4    Lorenz, B.5
  • 205
    • 0027717875 scopus 로고
    • Correlating visual acuity and electrooculogram recordings in Best's Disease
    • Wajima R, Chater SB, Katsumi O, Mehta MC, Hirose T. Correlating visual acuity and electrooculogram recordings in Best's Disease. Ophthalmologie 207: 174-181, 1993.
    • (1993) Ophthalmologie , vol.207 , pp. 174-181
    • Wajima, R.1    Chater, S.B.2    Katsumi, O.3    Mehta, M.C.4    Hirose, T.5
  • 206
    • 28144441353 scopus 로고    scopus 로고
    • Regulation of cardiac volume-sensitive chloride channel by focal adhesion kinase and Src kinase
    • Walsh KB, Zhang J. Regulation of cardiac volume-sensitive chloride channel by focal adhesion kinase and Src kinase. Am J Physiol Heart Circ Physiol 289: H2566-H2574, 2005.
    • (2005) Am J Physiol Heart Circ Physiol , vol.289
    • Walsh, K.B.1    Zhang, J.2
  • 207
    • 0028348283 scopus 로고
    • Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: No evidence for locus heterogeneity
    • Weber BH, Walker D, Muller B, Mar L. Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity. Genomics 20: 267-274, 1994.
    • (1994) Genomics , vol.20 , pp. 267-274
    • Weber, B.H.1    Walker, D.2    Muller, B.3    Mar, L.4
  • 208
    • 42149178984 scopus 로고    scopus 로고
    • Welsch MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis. In: The Metabolic and Molecular Bases of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill, 2001, p. 5121.
    • Welsch MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis. In: The Metabolic and Molecular Bases of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill, 2001, p. 5121.
  • 210
    • 0028014337 scopus 로고
    • The molecular basis of genetic dominance
    • Wilkie AO. The molecular basis of genetic dominance. J Med Genet 31: 89-98, 1994.
    • (1994) J Med Genet , vol.31 , pp. 89-98
    • Wilkie, A.O.1
  • 212
    • 33646144314 scopus 로고    scopus 로고
    • Functional abnormalities in the retinal pigment epithelium of CFTR mutant mice
    • Wu J, Marmorstein AD, Peachey NS. Functional abnormalities in the retinal pigment epithelium of CFTR mutant mice. Exp Eye Res 83: 424-428, 2006.
    • (2006) Exp Eye Res , vol.83 , pp. 424-428
    • Wu, J.1    Marmorstein, A.D.2    Peachey, N.S.3
  • 213
    • 34447302337 scopus 로고    scopus 로고
    • Wu J, Marmorstein AD, Striessnig J, Peachey NS. Voltage-dependent calcium channel cav1.3 subunits regulate the light peak of the electroretinogram. J Neurophysiol 00146, 2007.
    • Wu J, Marmorstein AD, Striessnig J, Peachey NS. Voltage-dependent calcium channel cav1.3 subunits regulate the light peak of the electroretinogram. J Neurophysiol 00146, 2007.
  • 214
    • 1342280522 scopus 로고    scopus 로고
    • Light-evoked responses of the mouse retinal pigment epithelium
    • Wu J, Peachey NS, Marmorstein AD. Light-evoked responses of the mouse retinal pigment epithelium. J Neurophysiol 91: 1134-1142, 2004.
    • (2004) J Neurophysiol , vol.91 , pp. 1134-1142
    • Wu, J.1    Peachey, N.S.2    Marmorstein, A.D.3
  • 216
    • 33748097447 scopus 로고    scopus 로고
    • The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function
    • Yu K, Cui Y, Hartzell HC. The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. Invest Ophthalmol Vis Sci 47: 4956-4961, 2006.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 4956-4961
    • Yu, K.1    Cui, Y.2    Hartzell, H.C.3
  • 217
    • 35648960426 scopus 로고    scopus 로고
    • Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration
    • Yu K, Qu Z, Cui Y, Hartzell HC. Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration. Invest Ophthalmol Vis Sci 48: 4694-4705, 2007.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 4694-4705
    • Yu, K.1    Qu, Z.2    Cui, Y.3    Hartzell, H.C.4
  • 218
    • 33750814597 scopus 로고    scopus 로고
    • Complement activation by photooxidation products of A2E, a lipofuscin constituent of the retinal pigment epithelium
    • Zhou J, Jang YP, Kim SR, Sparrow JR. Complement activation by photooxidation products of A2E, a lipofuscin constituent of the retinal pigment epithelium. Proc Natl Acad Sci USA 103: 16182-16187, 2006.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 16182-16187
    • Zhou, J.1    Jang, Y.P.2    Kim, S.R.3    Sparrow, J.R.4
  • 220
    • 33748862449 scopus 로고    scopus 로고
    • Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion
    • Zhuk SA, Edwards AO. Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. Mol Vis 12: 811-815, 2006.
    • (2006) Mol Vis , vol.12 , pp. 811-815
    • Zhuk, S.A.1    Edwards, A.O.2
  • 221
    • 0142126381 scopus 로고    scopus 로고
    • Penetrance and expressivity in the molecular age
    • Zlotogora J. Penetrance and expressivity in the molecular age. Genet Med 5: 347-352, 2003.
    • (2003) Genet Med , vol.5 , pp. 347-352
    • Zlotogora, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.