메뉴 건너뛰기




Volumn 19, Issue 4, 1998, Pages 197-202

Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families

Author keywords

IRBP; Retinosis pigmentaria; Spanish families

Indexed keywords

INTERPHOTORECEPTOR RETINOID BINDING PROTEIN;

EID: 0032440426     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.19.4.197.2312     Document Type: Article
Times cited : (3)

References (27)
  • 3
    • 0025282069 scopus 로고
    • Retinitis pigmentosa: Genetic mapping in X-linked and autosomal forms of the disease
    • Humphries P, Farrar JG, Keena P, McWilliam P. Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease. Clin Genet 1990;38:1-13.
    • (1990) Clin Genet , vol.38 , pp. 1-13
    • Humphries, P.1    Farrar, J.G.2    Keena, P.3    McWilliam, P.4
  • 5
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 6
    • 0026530096 scopus 로고
    • On the molecular genetics of retinitis pigmentosa
    • Humphries P, Kenna P, Farrar J. On the molecular genetics of retinitis pigmentosa. Science 1992;256:804-808.
    • (1992) Science , vol.256 , pp. 804-808
    • Humphries, P.1    Kenna, P.2    Farrar, J.3
  • 7
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfuntion and autosomal recessive retinitis pigmentosa
    • Rosenfeld PJ, Cowley GS, McGee TL, Sanderg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfuntion and autosomal recessive retinitis pigmentosa. Nat Genet 1992;1:209-213.
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sanderg, M.A.4    Berson, E.L.5    Dryja, T.P.6
  • 9
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the β subunit of rod phosphodi esterase in patients with retinitis pigmentosa
    • McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the β subunit of rod phosphodi esterase in patients with retinitis pigmentosa. Nat Genet 1993;4:130-134.
    • (1993) Nat Genet , vol.4 , pp. 130-134
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 12
    • 0029657975 scopus 로고    scopus 로고
    • Identification of a novel Arg552Gln mutation in exon 13 of the β subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa
    • Valverde D, Baiget M, Seminago R, del Río E, García-Sandoval B, del Rio T, Bayés M, Martínez A, Grinberg D, Ayuso C. Identification of a novel Arg552Gln mutation in exon 13 of the β subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Hum Mutat 1996;6:393-394.
    • (1996) Hum Mutat , vol.6 , pp. 393-394
    • Valverde, D.1    Baiget, M.2    Seminago, R.3    Del Río, E.4    García-Sandoval, B.5    Del Rio, T.6    Bayés, M.7    Martínez, A.8    Grinberg, D.9    Ayuso, C.10
  • 13
    • 0001650134 scopus 로고
    • A mutation in the gene encoding the alfa subunit of rod cGMP phosphodiesterase (PDEA) in retinitis pigmentosa
    • Huang SH, Huang X, Pittler SJ, Oliveira L, Berson EL, Dryja TP. A mutation in the gene encoding the alfa subunit of rod cGMP phosphodiesterase (PDEA) in retinitis pigmentosa. Invest Opthalmol Vis Sci 1995;Suppl 8825.
    • (1995) Invest Opthalmol Vis Sci , Issue.8825 SUPPL.
    • Huang, S.H.1    Huang, X.2    Pittler, S.J.3    Oliveira, L.4    Berson, E.L.5    Dryja, T.P.6
  • 14
    • 0342877083 scopus 로고
    • Defects in the rod cGMP gated channel gene in patients with retinitis pigmentosa
    • McGee TL, Lin D, Berson EL, Dryja TP. Defects in the rod cGMP gated channel gene in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci 1994;35:1716.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 1716
    • McGee, T.L.1    Lin, D.2    Berson, E.L.3    Dryja, T.P.4
  • 18
    • 0032539851 scopus 로고    scopus 로고
    • Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
    • Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proc Natl Acad Sci USA 1998;95(6):3088-3093.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.6 , pp. 3088-3093
    • Morimura, H.1    Fishman, G.A.2    Grover, S.A.3    Fulton, A.B.4    Berson, E.L.5    Dryja, T.P.6
  • 19
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dyke DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1988;16:1215.
    • (1988) Nucleic Acid Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dyke, D.D.2    Polesky, H.F.3
  • 20
    • 0025900639 scopus 로고
    • PCR detection of the MspI polymorphism in the human IRBP gene (RPB3)
    • Wu J, Nickerson JM. PCR detection of the MspI polymorphism in the human IRBP gene (RPB3). Nucleic Acids Res 1991;19:4016.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4016
    • Wu, J.1    Nickerson, J.M.2
  • 23
    • 0027563554 scopus 로고
    • Interphotoreceptor retinoid binding protein: Molecular biology and physiological role in the visual cycle of rhodopsin
    • Peppeberg DR, Okajima TL, Wiggert B, Ripps H, Crouch RK, Chader GJ. Interphotoreceptor retinoid binding protein: molecular biology and physiological role in the visual cycle of rhodopsin. Mol Neurobiol 1993;7:61-85.
    • (1993) Mol Neurobiol , vol.7 , pp. 61-85
    • Peppeberg, D.R.1    Okajima, T.L.2    Wiggert, B.3    Ripps, H.4    Crouch, R.K.5    Chader, G.J.6
  • 24
    • 0025799732 scopus 로고
    • Interphotoreceptor retinoid binding protein (IRBP) in progressive rod-cone degeneration (perd)-biochemical, immunocytochemical and immunologic studies
    • Wiggert B, Kutty G, Long KO, Inouye L, Gery I, Chader GJ, Aguirre Gd. Interphotoreceptor retinoid binding protein (IRBP) in progressive rod-cone degeneration (perd)-biochemical, immunocytochemical and immunologic studies. Exp Eye Res 1991;53:389-398.
    • (1991) Exp Eye Res , vol.53 , pp. 389-398
    • Wiggert, B.1    Kutty, G.2    Long, K.O.3    Inouye, L.4    Gery, I.5    Chader, G.J.6    Aguirre, Gd.7
  • 25
    • 0028044118 scopus 로고
    • An early decrease in photoreceptor retinoid-binding protein gene expression in Abyssinian cats homozygous for hereditary rod-cone degeneration
    • Wiggert B, van Veen T, Kutty G, Ling L, Nickerson J, Si JS, Nilsson SE, Chader GJ, Narfström K. An early decrease in photoreceptor retinoid-binding protein gene expression in Abyssinian cats homozygous for hereditary rod-cone degeneration. Cell Tissue Res 1994;278:291-298.
    • (1994) Cell Tissue Res , vol.278 , pp. 291-298
    • Wiggert, B.1    Van Veen, T.2    Kutty, G.3    Ling, L.4    Nickerson, J.5    Si, J.S.6    Nilsson, S.E.7    Chader, G.J.8    Narfström, K.9
  • 26
    • 0030907872 scopus 로고    scopus 로고
    • Idiopathic low molecular weight proteinuria associated with hipercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN 5)
    • Lloyd SE, Pearce SHS, Günther W, Kawaguchi H, Igarashi T, Jentsch TJ, Thakker RV. Idiopathic low molecular weight proteinuria associated with hipercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN 5). J Clin Invest 1997;9(5):967-974.
    • (1997) J Clin Invest , vol.9 , Issue.5 , pp. 967-974
    • Lloyd, S.E.1    Pearce, S.H.S.2    Günther, W.3    Kawaguchi, H.4    Igarashi, T.5    Jentsch, T.J.6    Thakker, R.V.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.