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Volumn 53, Issue 3, 2012, Pages 1353-1361

GNAT1 associated with autosomal recessive congenital stationary night blindness

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

EID: 84861133514     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8026     Document Type: Article
Times cited : (54)

References (39)
  • 1
    • 66749117504 scopus 로고    scopus 로고
    • Molecular genetics and protein function involved in nocturnal vision
    • Zeitz C. Molecular genetics and protein function involved in nocturnal vision. Expert Rev Ophthalmol. 2007;2:467-485.
    • (2007) Expert Rev Ophthalmol , vol.2 , pp. 467-485
    • Zeitz, C.1
  • 2
    • 77951374758 scopus 로고
    • Analysis of the human electroretinogram (in German)
    • Schubert G, Bornschein H. Analysis of the human electroretinogram (in German). Ophthalmologica. 1952;123:396-413.
    • (1952) Ophthalmologica , vol.123 , pp. 396-413
    • Schubert, G.1    Bornschein, H.2
  • 3
    • 0002485273 scopus 로고
    • Electroretinography in cases of night blindness
    • Riggs LA. Electroretinography in cases of night blindness. Am J Ophthalmol. 1954;38:70-78.
    • (1954) Am J Ophthalmol , vol.38 , pp. 70-78
    • Riggs, L.A.1
  • 4
    • 0027248024 scopus 로고
    • Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    • Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993;4:280-283.
    • (1993) Nat Genet , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprian, D.D.4
  • 5
    • 0028128535 scopus 로고
    • Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
    • Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994;7:551.
    • (1994) Nat Genet , vol.7 , pp. 551
    • Gal, A.1    Orth, U.2    Baehr, W.3    Schwinger, E.4    Rosenberg, T.5
  • 6
    • 0029112804 scopus 로고
    • Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa
    • Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1995;36: 1934-1942.
    • (1995) Invest Ophthalmol Vis Sci , vol.36 , pp. 1934-1942
    • Sandberg, M.A.1    Weigel-Difranco, C.2    Dryja, T.P.3    Berson, E.L.4
  • 8
    • 53149135064 scopus 로고    scopus 로고
    • Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB
    • Zeitz C, Gross AK, Leifert D, et al. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci. 2008;49: 4105-4114.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 4105-4114
    • Zeitz, C.1    Gross, A.K.2    Leifert, D.3
  • 9
    • 0029902034 scopus 로고    scopus 로고
    • Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness
    • Dryja TP, Hahn LB, Reboul T, Arnaud B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet. 1996;13: 358-360.
    • (1996) Nat Genet , vol.13 , pp. 358-360
    • Dryja, T.P.1    Hahn, L.B.2    Reboul, T.3    Arnaud, B.4
  • 10
    • 34447647848 scopus 로고    scopus 로고
    • p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness
    • Szabo V, Kreienkamp HJ, Rosenberg T, Gal A. p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat. 2007;28:741-742.
    • (2007) Hum Mutat , vol.28 , pp. 741-742
    • Szabo, V.1    Kreienkamp, H.J.2    Rosenberg, T.3    Gal, A.4
  • 11
    • 38049001481 scopus 로고    scopus 로고
    • The negative ERG: Clinical phenotypes and disease mechanisms of inner retinal dysfunction
    • Audo I, Robson AG, Holder GE, Moore AT. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol. 2008;53:16-40.
    • (2008) Surv Ophthalmol , vol.53 , pp. 16-40
    • Audo, I.1    Robson, A.G.2    Holder, G.E.3    Moore, A.T.4
  • 12
    • 0033757466 scopus 로고    scopus 로고
    • Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    • Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. 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
  • 13
    • 0033762779 scopus 로고    scopus 로고
    • The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    • Pusch CM, Zeitz C, Brandau O, et al. 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
  • 14
    • 16344363011 scopus 로고    scopus 로고
    • Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6
    • Dryja TP, McGee TL, Berson EL, et al. 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
  • 15
    • 33644701685 scopus 로고    scopus 로고
    • 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, et al. 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
  • 16
    • 71849117485 scopus 로고    scopus 로고
    • Mutations in TRPM1 are a common cause of complete congenital stationary night blindness
    • van Genderen MM, Bijveld MM, Claassen YB, et al. 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
  • 17
    • 72149101903 scopus 로고    scopus 로고
    • TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
    • Audo I, Kohl S, Leroy BP, et al. 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
  • 18
    • 71849089234 scopus 로고    scopus 로고
    • Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
    • Li Z, Sergouniotis PI, Michaelides M, et al. 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
  • 19
    • 33749005104 scopus 로고    scopus 로고
    • Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
    • Zeitz C, Kloeckener-Gruissem B, Forster U, et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006;79: 657-667.
    • (2006) Am J Hum Genet , vol.79 , pp. 657-667
    • Zeitz, C.1    Kloeckener-Gruissem, B.2    Forster, U.3
  • 20
    • 17344366487 scopus 로고    scopus 로고
    • An L-type calciumchannel gene mutated in incomplete X-linked congenital stationary night blindness
    • Strom TM, Nyakatura G, pfelstedt-Sylla E, et al. An L-type calciumchannel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:260-263.
    • (1998) Nat Genet , vol.19 , pp. 260-263
    • Strom, T.M.1    Nyakatura, G.2    Pfelstedt-Sylla, E.3
  • 21
    • 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 NT, Naylor MJ, Maybaum TA, et al. 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
  • 22
    • 77957755097 scopus 로고    scopus 로고
    • A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness
    • Riazuddin SA, Shahzadi A, Zeitz C, et al. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010;87:523-531.
    • (2010) Am J Hum Genet , vol.87 , pp. 523-531
    • Riazuddin, S.A.1    Shahzadi, A.2    Zeitz, C.3
  • 23
    • 0022993799 scopus 로고
    • Identification of specific transducin alpha subunits in retinal rod and cone photoreceptors
    • Lerea CL, Somers DE, Hurley JB, Klock IB, Bunt-Milam AH. Identification of specific transducin alpha subunits in retinal rod and cone photoreceptors. Science. 1986;234:77-80.
    • (1986) Science , vol.234 , pp. 77-80
    • Lerea, C.L.1    Somers, D.E.2    Hurley, J.B.3    Klock, I.B.4    Bunt-Milam, A.H.5
  • 24
    • 0000519923 scopus 로고
    • Flow of information in the lighttriggered cyclic nucleotide cascade of vision
    • Fung BK, Hurley JB, Stryer L. Flow of information in the lighttriggered cyclic nucleotide cascade of vision. Proc Natl Acad Sci U S A. 1981;78:152-156.
    • (1981) Proc Natl Acad Sci U S A , vol.78 , pp. 152-156
    • Fung, B.K.1    Hurley, J.B.2    Stryer, L.3
  • 25
    • 0027722981 scopus 로고
    • Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22
    • Ngo JT, Bateman JB, Klisak I, et al. Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22. Genomics. 1993;18:724-725.
    • (1993) Genomics , vol.18 , pp. 724-725
    • Ngo, J.T.1    Bateman, J.B.2    Klisak, I.3
  • 26
    • 0027275667 scopus 로고
    • Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)
    • Morris TA, Fong SL. Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). Genomics. 1993;17:442-448.
    • (1993) Genomics , vol.17 , pp. 442-448
    • Morris, T.A.1    Fong, S.L.2
  • 27
    • 0027352613 scopus 로고
    • Interaction of rhodopsin with the G-protein, transducin
    • Hargrave PA, Hamm HE, Hofmann KP. Interaction of rhodopsin with the G-protein, transducin. Bioessays. 1993;15:43-50.
    • (1993) Bioessays , vol.15 , pp. 43-50
    • Hargrave, P.A.1    Hamm, H.E.2    Hofmann, K.P.3
  • 28
    • 33750622785 scopus 로고    scopus 로고
    • G-protein alpha and beta-gamma subunits interact with conformationally distinct signaling states of rhodopsin
    • Downs MA, Arimoto R, Marshall GR, Kisselev OG. G-protein alpha and beta-gamma subunits interact with conformationally distinct signaling states of rhodopsin. Vision Res. 2006;46:4442-4448.
    • (2006) Vision Res , vol.46 , pp. 4442-4448
    • Downs, M.A.1    Arimoto, R.2    Marshall, G.R.3    Kisselev, O.G.4
  • 29
    • 77952296991 scopus 로고    scopus 로고
    • Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
    • Kaul H, Riazuddin SA, Shahid M, et al. Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis. 2010;16:511-517.
    • (2010) Mol Vis , vol.16 , pp. 511-517
    • Kaul, H.1    Riazuddin, S.A.2    Shahid, M.3
  • 30
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984;36:460-465.
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 32
    • 34248137448 scopus 로고    scopus 로고
    • CTRP5 is a membraneassociated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion
    • Mandal MN, Vasireddy V, Reddy GB, et al. CTRP5 is a membraneassociated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest Ophthalmol Vis Sci. 2006;47:5505-5513.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 5505-5513
    • Mandal, M.N.1    Vasireddy, V.2    Reddy, G.B.3
  • 33
    • 27244449177 scopus 로고    scopus 로고
    • Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation
    • Ayyagari R, Mandal MN, Karoukis AJ, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005;46: 3363-3371.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3363-3371
    • Ayyagari, R.1    Mandal, M.N.2    Karoukis, A.J.3
  • 34
    • 0033031796 scopus 로고    scopus 로고
    • Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
    • Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999;22:248-254.
    • (1999) Nat Genet , vol.22 , pp. 248-254
    • Pierce, E.A.1    Quinn, T.2    Meehan, T.3    McGee, T.L.4    Berson, E.L.5    Dryja, T.P.6
  • 35
    • 0032989251 scopus 로고    scopus 로고
    • Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
    • Sullivan LS, Heckenlively JR, Bowne SJ, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet. 1999;22:255-259.
    • (1999) Nat Genet , vol.22 , pp. 255-259
    • Sullivan, L.S.1    Heckenlively, J.R.2    Bowne, S.J.3
  • 36
    • 0032838642 scopus 로고    scopus 로고
    • A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus
    • Guillonneau X, Piriev NI, Danciger M, et al. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet. 1999;8:1541-1546.
    • (1999) Hum Mol Genet , vol.8 , pp. 1541-1546
    • Guillonneau, X.1    Piriev, N.I.2    Danciger, M.3
  • 37
    • 23244442757 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families
    • Riazuddin SA, Zulfiqar F, Zhang Q, et al. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci. 2005;46:2264-2270.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 2264-2270
    • Riazuddin, S.A.1    Zulfiqar, F.2    Zhang, Q.3
  • 38
    • 0036844004 scopus 로고    scopus 로고
    • A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q
    • Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet. 2002;71:1216-1221.
    • (2002) Am J Hum Genet , vol.71 , pp. 1216-1221
    • Mackay, D.S.1    Boskovska, O.B.2    Knopf, H.L.3    Lampi, K.J.4    Shiels, A.5
  • 39
    • 34250176540 scopus 로고    scopus 로고
    • Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract
    • Cohen D, Bar-Yosef U, Levy J, et al. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2007;48:2208-2213.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 2208-2213
    • Cohen, D.1    Bar-Yosef, U.2    Levy, J.3


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