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Volumn 14, Issue , 2008, Pages 378-386

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; CYTOSINE; GAMMA CRYSTALLIN; GLYCINE; GUANINE; MUTANT PROTEIN;

EID: 40749099375     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (30)

References (44)
  • 2
    • 0031979070 scopus 로고    scopus 로고
    • The genetics of cataract: Our vision becomes clearer
    • Hejtmancik JF. The genetics of cataract: our vision becomes clearer. Am J Hum Genet 1998; 62:520-5.
    • (1998) Am J Hum Genet , vol.62 , pp. 520-525
    • Hejtmancik, J.F.1
  • 5
    • 0002288531 scopus 로고
    • Probable linkage between a congenital cataract locus and the Duffy blood group locus
    • Renwick JH, Lawler SD. Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann Hum Genet 1963; 27:67-84.
    • (1963) Ann Hum Genet , vol.27 , pp. 67-84
    • Renwick, J.H.1    Lawler, S.D.2
  • 7
    • 0242287938 scopus 로고    scopus 로고
    • Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q
    • Mackay DS, Andley UP, Shiels A. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. Eur J Hum Genet 2003; 11:784-93.
    • (2003) Eur J Hum Genet , vol.11 , pp. 784-793
    • Mackay, D.S.1    Andley, U.P.2    Shiels, A.3
  • 8
    • 0031934121 scopus 로고    scopus 로고
    • Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
    • Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998; 7:471-4.
    • (1998) Hum Mol Genet , vol.7 , pp. 471-474
    • Litt, M.1    Kramer, P.2    LaMorticella, D.M.3    Murphey, W.4    Lovrien, E.W.5    Weleber, R.G.6
  • 9
  • 10
    • 4644279714 scopus 로고    scopus 로고
    • Expression and regulation of alpha-, beta-, and gamma-crystallins in mammalian lens epithelial cells
    • Wang X, Garcia CM, Shui YB, Beebe DC. Expression and regulation of alpha-, beta-, and gamma-crystallins in mammalian lens epithelial cells. Invest Ophthalmol Vis Sci 2004; 45:3608-19.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3608-3619
    • Wang, X.1    Garcia, C.M.2    Shui, Y.B.3    Beebe, D.C.4
  • 11
    • 0025835886 scopus 로고
    • Isolation and characterization of cDNAs encoding beta A2- and beta A4,crystallins heterologous interactions in the predicted beta A4-beta B2 heterodimer
    • Van Rens GL, Driessen HP, Nalini V, Slingsby C, de Jong WW, Bloemendal H. Isolation and characterization of cDNAs encoding beta A2- and beta A4,crystallins heterologous interactions in the predicted beta A4-beta B2 heterodimer. Gene 1991; 102:179-88.
    • (1991) Gene , vol.102 , pp. 179-188
    • Van Rens, G.L.1    Driessen, H.P.2    Nalini, V.3    Slingsby, C.4    de Jong, W.W.5    Bloemendal, H.6
  • 12
    • 0242663766 scopus 로고
    • Peculiar coralliform cataract with crystals in the lens
    • Gunn RM. Peculiar coralliform cataract with crystals in the lens. Trans Ophthalmol Soc 1895; XV:119.
    • (1895) Trans Ophthalmol Soc , vol.15 , pp. 119
    • Gunn, R.M.1
  • 15
    • 1842452643 scopus 로고    scopus 로고
    • A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q
    • PMID: 15041957
    • Mackay DS, Andley UP, Shiels A. A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. Mol Vis 2004; 10:155-62. [PMID: 15041957]
    • (2004) Mol Vis , vol.10 , pp. 155-162
    • Mackay, D.S.1    Andley, U.P.2    Shiels, A.3
  • 16
    • 2342655780 scopus 로고    scopus 로고
    • Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene
    • http://www.molvis.orgmolvis/v10/a29/ [PMID: 15064679
    • Shentu X, Yao K, Xu W, Zheng S, Hu S, Gong X. Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene. Mol Vis 2004; 10:233-9. http://www.molvis.org(molvis/v10/a29/ [PMID: 15064679]
    • (2004) Mol Vis , vol.10 , pp. 233-239
    • Shentu, X.1    Yao, K.2    Xu, W.3    Zheng, S.4    Hu, S.5    Gong, X.6
  • 17
    • 33845446870 scopus 로고    scopus 로고
    • Autosomal dominant congenital golden crystal nuclear cataract caused by a missense mutation in gammaD crystallin gene (CRYGD) in a Chinese family
    • PMID: 17217786
    • Gu JZ, Qi YH, Lin H, Li X, Wang J, Meng WM, Su H. Autosomal dominant congenital golden crystal nuclear cataract caused by a missense mutation in gammaD crystallin gene (CRYGD) in a Chinese family. Zhonghua Yan Ke Za Zhi 2006; 42:913-7. [PMID: 17217786]
    • (2006) Zhonghua Yan Ke Za Zhi , vol.42 , pp. 913-917
    • Gu, J.Z.1    Qi, Y.H.2    Lin, H.3    Li, X.4    Wang, J.5    Meng, W.M.6    Su, H.7
  • 22
    • 2342655780 scopus 로고    scopus 로고
    • Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene
    • Shentu Y, Yao K, Xu W, Zheng S, Hu S, Gong X. Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene. Mol Vis 2004; 10:233-9.
    • (2004) Mol Vis , vol.10 , pp. 233-239
    • Shentu, Y.1    Yao, K.2    Xu, W.3    Zheng, S.4    Hu, S.5    Gong, X.6
  • 23
    • 2942534416 scopus 로고    scopus 로고
    • Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene
    • Xu WZ, Zheng S, Xu SJ, Huang W, Yao K, Zhang SZ. Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene. Chin Med J (Engl) 2004; 117:727-32.
    • (2004) Chin Med J (Engl) , vol.117 , pp. 727-732
    • Xu, W.Z.1    Zheng, S.2    Xu, S.J.3    Huang, W.4    Yao, K.5    Zhang, S.Z.6
  • 24
    • 39049193806 scopus 로고    scopus 로고
    • Study on ultrastructure changes and the genetic locus for a special phenotype cataract
    • Shentu XC, Yao K, Sun ZH, Xu W. Study on ultrastructure changes and the genetic locus for a special phenotype cataract. Zhonshua Yan Ke Za Zhi 2004; 40:306-10.
    • (2004) Zhonshua Yan Ke Za Zhi , vol.40 , pp. 306-310
    • Shentu, X.C.1    Yao, K.2    Sun, Z.H.3    Xu, W.4
  • 25
    • 26244431738 scopus 로고    scopus 로고
    • CRYGD gene analysis in a family with autosomal dominant congenital cataract: Evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract
    • Zenteno JC, Morales ME, Moran-Barroso V, Sanchez-Navarro A. CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract. Mol Vis 2005; 11:438-42.
    • (2005) Mol Vis , vol.11 , pp. 438-442
    • Zenteno, J.C.1    Morales, M.E.2    Moran-Barroso, V.3    Sanchez-Navarro, A.4
  • 26
    • 27944431705 scopus 로고    scopus 로고
    • A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family
    • Gu J, Qi Y, Wang L, Wang J, Shi J, Lin H, Li X, Su H, Huang S. A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family. Mol Vis 2005; 11:971-6.
    • (2005) Mol Vis , vol.11 , pp. 971-976
    • Gu, J.1    Qi, Y.2    Wang, L.3    Wang, J.4    Shi, J.5    Lin, H.6    Li, X.7    Su, H.8    Huang, S.9
  • 27
    • 30444454663 scopus 로고    scopus 로고
    • A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family
    • Gu F, Li R, Ma XX, Shi LS, Huang SZ, Ma X. A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family. Mol Vis 2006; 12:26-31.
    • (2006) Mol Vis , vol.12 , pp. 26-31
    • Gu, F.1    Li, R.2    Ma, X.X.3    Shi, L.S.4    Huang, S.Z.5    Ma, X.6
  • 28
    • 33747832463 scopus 로고    scopus 로고
    • Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene
    • Messina-Baas OM, Gonzalez-Huerta LM, Cuevas-Covarrubias SA. Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene. Mol Vis 2006; 12:995-1000.
    • (2006) Mol Vis , vol.12 , pp. 995-1000
    • Messina-Baas, O.M.1    Gonzalez-Huerta, L.M.2    Cuevas-Covarrubias, S.A.3
  • 29
    • 33845446870 scopus 로고    scopus 로고
    • Autosomal dominant congenital golden crystal nuclear cataract caused by a missense mutation in gammaD crystallin gene (CRYGD) in a Chinese family
    • Gu JZ, Qi YH, Lin H, Li X, Wang J, Meng WM, Su H. Autosomal dominant congenital golden crystal nuclear cataract caused by a missense mutation in gammaD crystallin gene (CRYGD) in a Chinese family. Zhonghua Yan Ke Za Zhi 2006; 42:913-7.
    • (2006) Zhonghua Yan Ke Za Zhi , vol.42 , pp. 913-917
    • Gu, J.Z.1    Qi, Y.H.2    Lin, H.3    Li, X.4    Wang, J.5    Meng, W.M.6    Su, H.7
  • 30
    • 34347258931 scopus 로고    scopus 로고
    • Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state
    • Plotnikova OV, Kondrasbov FA, Vlasov PK, Grigorenko AP, Ginter EK, Rogaev EI. Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. Am J Hum Genet 2007; 81:32-43.
    • (2007) Am J Hum Genet , vol.81 , pp. 32-43
    • Plotnikova, O.V.1    Kondrasbov, F.A.2    Vlasov, P.K.3    Grigorenko, A.P.4    Ginter, E.K.5    Rogaev, E.I.6
  • 31
    • 35148832522 scopus 로고    scopus 로고
    • Genetic heterogeneity in microcorne-cataract: Five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Via
    • Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T. Genetic heterogeneity in microcorne-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Via Sci 2007; 48:3937-44.
    • (2007) Sci , vol.48 , pp. 3937-3944
    • Hansen, L.1    Yao, W.2    Eiberg, H.3    Kjaer, K.W.4    Baggesen, K.5    Hejtmancik, J.F.6    Rosenberg, T.7
  • 34
    • 1842452643 scopus 로고    scopus 로고
    • A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q
    • Mackay DS, Andley UP, Shiels A. A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. Mol Vis 2004; 10:155-62.
    • (2004) Mol Vis , vol.10 , pp. 155-162
    • Mackay, D.S.1    Andley, U.P.2    Shiels, A.3
  • 35
    • 2942534416 scopus 로고    scopus 로고
    • Autosomal dominant coralliform cataract related to a missense mutation of the γD-crystallin gene
    • Xu WZ, Zheng S, Xu SJ, Huang W, Yao K, Zhang SZ. Autosomal dominant coralliform cataract related to a missense mutation of the γD-crystallin gene. Chin Med J (Engl) 2004; 117:727-32.
    • (2004) Chin Med J (Engl) , vol.117 , pp. 727-732
    • Xu, W.Z.1    Zheng, S.2    Xu, S.J.3    Huang, W.4    Yao, K.5    Zhang, S.Z.6
  • 36
    • 0023408704 scopus 로고
    • Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens
    • Russell P, Meakin SO, Hohman TC, Tsui LC, Breitman ML. Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens. Mol Cell Biol 1987; 7:3320-3.
    • (1987) Mol Cell Biol , vol.7 , pp. 3320-3323
    • Russell, P.1    Meakin, S.O.2    Hohman, T.C.3    Tsui, L.C.4    Breitman, M.L.5
  • 38
    • 0027468977 scopus 로고
    • Sequence analysis of lens beta-crystallins suggests involvement of calpain in cataract formation
    • David LL, Shearer TR, Shih M. Sequence analysis of lens beta-crystallins suggests involvement of calpain in cataract formation. J Biol Chem 1993; 268:1937-40.
    • (1993) J Biol Chem , vol.268 , pp. 1937-1940
    • David, L.L.1    Shearer, T.R.2    Shih, M.3
  • 41
    • 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; 71:1216-21.
    • (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
  • 44
    • 0030614501 scopus 로고    scopus 로고
    • Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens
    • Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. J Biol Chem 1997; 272:2268-75.
    • (1997) J Biol Chem , vol.272 , pp. 2268-2275
    • Lampi, K.J.1    Ma, Z.2    Shih, M.3    Shearer, T.R.4    Smith, J.B.5    Smith, D.L.6    David, L.L.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.