메뉴 건너뛰기




Volumn 145, Issue 6, 2008, Pages 1099-1106

Novel KCNV2 Mutations in Cone Dystrophy with Supernormal Rod Electroretinogram

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALGERIA; ARTICLE; CHROMOSOME; CLINICAL ARTICLE; CLINICAL STUDY; COLOR VISION; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; FRANCE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; KCNV2 GENE; MALE; MOLECULAR BIOLOGY; MOROCCO; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DYSTROPHY; SCHOOL CHILD;

EID: 43949131764     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2008.02.004     Document Type: Article
Times cited : (36)

References (17)
  • 2
    • 0020535720 scopus 로고
    • Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration
    • Gouras P., Eggers H.M., and Mackay C.G. Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration. Arch Ophthalmol 101 (1983) 718-724
    • (1983) Arch Ophthalmol , vol.101 , pp. 718-724
    • Gouras, P.1    Eggers, H.M.2    Mackay, C.G.3
  • 3
    • 0021701259 scopus 로고
    • Supernormal scotopic ERG in cone dystrophy
    • Alexander K.R., and Fishman G.A. Supernormal scotopic ERG in cone dystrophy. Br J Ophthalmol 68 (1984) 69-78
    • (1984) Br J Ophthalmol , vol.68 , pp. 69-78
    • Alexander, K.R.1    Fishman, G.A.2
  • 4
    • 0025228039 scopus 로고
    • Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration. Comparison with retinitis pigmentosa
    • Sandberg M.A., Miller S., and Berson E.L. Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration. Comparison with retinitis pigmentosa. Invest Ophthalmol Vis Sci 31 (1990) 2283-2287
    • (1990) Invest Ophthalmol Vis Sci , vol.31 , pp. 2283-2287
    • Sandberg, M.A.1    Miller, S.2    Berson, E.L.3
  • 5
    • 0027278986 scopus 로고
    • Retinal cone dysfunction of supernormal rod ERG type. Five new cases
    • Rosenberg T., and Simonsen S.E. Retinal cone dysfunction of supernormal rod ERG type. Five new cases. Acta Ophthalmol (Copenh) 71 (1993) 246-255
    • (1993) Acta Ophthalmol (Copenh) , vol.71 , pp. 246-255
    • Rosenberg, T.1    Simonsen, S.E.2
  • 6
    • 0027449040 scopus 로고
    • Cone dysfunction and supernormal scotopic electroretinogram with a high-intensity stimulus. A report of three cases
    • Kato M., Kobayashi R., and Watanabe I. Cone dysfunction and supernormal scotopic electroretinogram with a high-intensity stimulus. A report of three cases. Doc Ophthalmol 84 (1993) 71-81
    • (1993) Doc Ophthalmol , vol.84 , pp. 71-81
    • Kato, M.1    Kobayashi, R.2    Watanabe, I.3
  • 7
    • 0029975887 scopus 로고    scopus 로고
    • Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogram b-waves
    • Hood D.C., Cideciyan A.V., Halevy D.A., and Jacobson S.G. Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogram b-waves. Vision Res 36 (1996) 889-901
    • (1996) Vision Res , vol.36 , pp. 889-901
    • Hood, D.C.1    Cideciyan, A.V.2    Halevy, D.A.3    Jacobson, S.G.4
  • 8
    • 14744271527 scopus 로고    scopus 로고
    • A detailed phenotypic study of "cone dystrophy with supernormal rod ERG."
    • Michaelides M., Holder G.E., Webster A.R., et al. A detailed phenotypic study of "cone dystrophy with supernormal rod ERG.". Br J Ophthalmol 89 (2005) 332-339
    • (2005) Br J Ophthalmol , vol.89 , pp. 332-339
    • Michaelides, M.1    Holder, G.E.2    Webster, A.R.3
  • 9
    • 11344291174 scopus 로고    scopus 로고
    • A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy
    • Piri N., Gao Y.Q., Danciger M., Mendoza E., Fishman G.A., and Farber D.B. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. Ophthalmology 112 (2005) 159-166
    • (2005) Ophthalmology , vol.112 , pp. 159-166
    • Piri, N.1    Gao, Y.Q.2    Danciger, M.3    Mendoza, E.4    Fishman, G.A.5    Farber, D.B.6
  • 10
    • 0033975061 scopus 로고    scopus 로고
    • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
    • Haider N.B., Jacobson S.G., Cideciyan A.V., et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 24 (2000) 127-131
    • (2000) Nat Genet , vol.24 , pp. 127-131
    • Haider, N.B.1    Jacobson, S.G.2    Cideciyan, A.V.3
  • 11
    • 33748639936 scopus 로고    scopus 로고
    • Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans
    • Wu H., Cowing J.A., Michaelides M., et al. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. Am J Hum Genet 79 (2006) 574-579
    • (2006) Am J Hum Genet , vol.79 , pp. 574-579
    • Wu, H.1    Cowing, J.A.2    Michaelides, M.3
  • 12
    • 0037062485 scopus 로고    scopus 로고
    • Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome
    • Ottschytsch N., Raes A., van Hoorick D., and Snyders D.J. Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. Proc Natl Acad Sci U S A 99 (2002) 7986-7991
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 7986-7991
    • Ottschytsch, N.1    Raes, A.2    van Hoorick, D.3    Snyders, D.J.4
  • 13
    • 34548802405 scopus 로고    scopus 로고
    • Characterization of the heteromeric potassium channel formed by kv2.1 and the retinal subunit kv8.2 in Xenopus oocytes
    • Czirják G., Tóth Z.E., and Enyedi P. Characterization of the heteromeric potassium channel formed by kv2.1 and the retinal subunit kv8.2 in Xenopus oocytes. J Neurophysiol 98 (2007) 1213-1222
    • (2007) J Neurophysiol , vol.98 , pp. 1213-1222
    • Czirják, G.1    Tóth, Z.E.2    Enyedi, P.3
  • 14
    • 36749091081 scopus 로고    scopus 로고
    • Multiple modes of a-type potassium current regulation
    • Cai S.Q., Li W., and Sesti F. Multiple modes of a-type potassium current regulation. Curr Pharm Des 13 (2007) 3178-3184
    • (2007) Curr Pharm Des , vol.13 , pp. 3178-3184
    • Cai, S.Q.1    Li, W.2    Sesti, F.3
  • 16
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 17
    • 34848868115 scopus 로고    scopus 로고
    • Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram
    • Thiagalingam S., McGee T.L., Weleber R.G., et al. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genet 28 (2007) 135-142
    • (2007) Ophthalmic Genet , vol.28 , pp. 135-142
    • Thiagalingam, S.1    McGee, T.L.2    Weleber, R.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.