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Volumn 13, Issue 9, 2004, Pages 945-953

Characterization of the G91del CRYBA1/3-crystallin protein: A cause of human inherited cataract

Author keywords

[No Author keywords available]

Indexed keywords

BETA CRYSTALLIN; CRYSTALLIN; GLYCINE; MUTANT PROTEIN; TYROSINE;

EID: 2442626769     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh110     Document Type: Article
Times cited : (64)

References (31)
  • 1
    • 0031424722 scopus 로고    scopus 로고
    • Genetic analysis of adult-onset cataract in a city-based ophthalmic hospital
    • Vijaya, R., Gupta, R., Panda, G., Ravishankar, K. and Kumaramanickavel, G. (1997) Genetic analysis of adult-onset cataract in a city-based ophthalmic hospital. Clin Genet., 52, 427-431.
    • (1997) Clin. Genet. , vol.52 , pp. 427-431
    • Vijaya, R.1    Gupta, R.2    Panda, G.3    Ravishankar, K.4    Kumaramanickavel, G.5
  • 2
    • 0027270179 scopus 로고
    • Causes of childhood blindness: Results from west Africa, south India and Chile
    • Gilbert, C.E., Canovas, R., Hagan, M., Rao, S. and Foster, A. (1993) Causes of childhood blindness: results from west Africa, south India and Chile. Eye, 7, 184-188.
    • (1993) Eye , vol.7 , pp. 184-188
    • Gilbert, C.E.1    Canovas, R.2    Hagan, M.3    Rao, S.4    Foster, A.5
  • 3
    • 0033949940 scopus 로고    scopus 로고
    • Congenital and infantile cataract in the United Kingdom: Underlying or associated factors
    • British Congenital Cataract Interest Group
    • Rahi, J.S. and Dezateux, C. (2000) Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest. Ophthal. Visual Sci., 41, 2108-2114.
    • (2000) Invest. Ophthal. Visual Sci. , vol.41 , pp. 2108-2114
    • Rahi, J.S.1    Dezateux, C.2
  • 6
    • 0020678719 scopus 로고
    • Short-range order of crystallin proteins accounts for eye lens transparency
    • Delaye, M. and Tardieu, A. (1983) Short-range order of crystallin proteins accounts for eye lens transparency. Nature, 302, 415-417.
    • (1983) Nature , vol.302 , pp. 415-417
    • Delaye, M.1    Tardieu, A.2
  • 7
    • 0035167113 scopus 로고    scopus 로고
    • Lens crystallins and their microbial homologs: Structure, stability, and function
    • Jaenicke, R. and Slingsby, C. (2001) Lens crystallins and their microbial homologs: structure, stability, and function. Crit. Rev. Biochem. Mol. Biol., 36, 435-499.
    • (2001) Crit. Rev. Biochem. Mol. Biol. , vol.36 , pp. 435-499
    • Jaenicke, R.1    Slingsby, C.2
  • 8
    • 0034486034 scopus 로고    scopus 로고
    • The function of alpha-crystallin in vision
    • Horwitz, J. (2000) The function of alpha-crystallin in vision. Semin. Cell Dev. Biol., 11, 53-60.
    • (2000) Semin. Cell Dev. Biol. , vol.11 , pp. 53-60
    • Horwitz, J.1
  • 9
    • 0030954844 scopus 로고    scopus 로고
    • Cataract as a protein condensation disease: The Proctor Lecture
    • Benedek, G.B. (1997) Cataract as a protein condensation disease: the Proctor Lecture. Invest. Ophthal. Visual Sci., 38, 1911-1921.
    • (1997) Invest. Ophthal. Visual Sci. , vol.38 , pp. 1911-1921
    • Benedek, G.B.1
  • 17
    • 0036844004 scopus 로고    scopus 로고
    • A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q
    • Mackay, D.S., Boskovska, O.B., Knopf, H.L., Lampi, K.J. and Shiels, A. (2002) A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am. J. Hum. Genet., 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
  • 18
    • 0034987735 scopus 로고    scopus 로고
    • A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene
    • Vanita, Sarhadi, V., Reis, A., Jung, M., Singh, D., Sperling, K., Singh, J.R. and Burger, J. (2001) A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J. Med. Genet., 38, 392-396.
    • (2001) J. Med. Genet. , vol.38 , pp. 392-396
    • Vanita Sarhadi, V.1    Reis, A.2    Jung, M.3    Singh, D.4    Sperling, K.5    Singh, J.R.6    Burger, J.7
  • 20
    • 0032561116 scopus 로고    scopus 로고
    • Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene
    • Kannabiran, C., Rogan, P.K., Olmos, L., Basti, S., Rao, G.N., Kaiser-Kupfer, M. and Hejtmancik, J.F. (1998) Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol. Vision, 4, 21.
    • (1998) Mol. Vision , vol.4 , pp. 21
    • Kannabiran, C.1    Rogan, P.K.2    Olmos, L.3    Basti, S.4    Rao, G.N.5    Kaiser-Kupfer, M.6    Hejtmancik, J.F.7
  • 22
    • 0000686866 scopus 로고    scopus 로고
    • Mutation of beta-A3/A1 crystallin gene in autosomal dominant zonular cataract with sutural opacities results in a protein with a single globular domain
    • (Abstr.)
    • Kannabiran, C., Wawrousek, E., Sergeev, Y., Rao, G.N., Kaiser-Kupfer, M. and Hejtmancik, J.F. (1999) Mutation of beta-A3/A1 crystallin gene in autosomal dominant zonular cataract with sutural opacities results in a protein with a single globular domain. Invest. Ophthal. Visual Sci. (Abstr.) 40, S786.
    • (1999) Invest. Ophthal. Visual Sci. , vol.40
    • Kannabiran, C.1    Wawrousek, E.2    Sergeev, Y.3    Rao, G.N.4    Kaiser-Kupfer, M.5    Hejtmancik, J.F.6
  • 23
    • 0028102759 scopus 로고
    • Contributions of tryptophan side chains to the far-ultraviolet circular dichroism of proteins
    • Woody, R.W. (1994) Contributions of tryptophan side chains to the far-ultraviolet circular dichroism of proteins. Eur. Biophys. J. 23, 253-262.
    • (1994) Eur. Biophys. J. , vol.23 , pp. 253-262
    • Woody, R.W.1
  • 25
    • 0033525632 scopus 로고    scopus 로고
    • Folding and self-assembly of the domains of betaB2-crystallin from rat eye lens
    • Wieligmann, K., Mayr, E.M. and Jaenicke, R. (1999) Folding and self-assembly of the domains of betaB2-crystallin from rat eye lens. J. Mol. Biol., 286, 989-994.
    • (1999) J. Mol. Biol. , vol.286 , pp. 989-994
    • Wieligmann, K.1    Mayr, E.M.2    Jaenicke, R.3
  • 26
  • 28
    • 84888984005 scopus 로고    scopus 로고
    • Autosomal dominant congenital nuclear cataract associated with delG91 in CRYBA3/A1
    • ARVO Abstract, 5 May
    • Munier, F.L., Ferrini, W., Othenin-Girard, P., Uffer, S. and Schorderet, D.F. (2003) Autosomal dominant congenital nuclear cataract associated with delG91 in CRYBA3/A1. ARVO Abstract, 5 May.
    • (2003)
    • Munier, F.L.1    Ferrini, W.2    Othenin-Girard, P.3    Uffer, S.4    Schorderet, D.F.5
  • 29
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop, G.M. and Lalouel, J.M. (1984) Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet., 36, 460-465.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 30
    • 0034771090 scopus 로고    scopus 로고
    • Association behaviour of human betaB1-crystallin and its truncated forms
    • Bateman, O.A., Lubsen, N.H. and Slingsby, C. (2001) Association behaviour of human betaB1-crystallin and its truncated forms. Exp. Eye Res., 73, 321-331.
    • (2001) Exp. Eye Res. , vol.73 , pp. 321-331
    • Bateman, O.A.1    Lubsen, N.H.2    Slingsby, C.3
  • 31
    • 0023652252 scopus 로고
    • Differential adsorption flattening optical effects are significant in the circular dichroism spectra of large membrane fragments
    • Wallace, B.A. and Teeters, C.L. (1987) Differential adsorption flattening optical effects are significant in the circular dichroism spectra of large membrane fragments. Biochemistry, 26, 65-70.
    • (1987) Biochemistry , vol.26 , pp. 65-70
    • Wallace, B.A.1    Teeters, C.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.