메뉴 건너뛰기




Volumn 16, Issue , 2010, Pages 2347-2353

A Chinese family with progressive childhood cataracts and IVS3+IG>A CRYBA3/A1 mutations

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA CRYSTALLIN; ALPHA CRYSTALLIN A1; ALPHA CRYSTALLIN A3; GLYCINE; UNCLASSIFIED DRUG;

EID: 78149480333     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (27)

References (41)
  • 3
    • 39149086399 scopus 로고    scopus 로고
    • Congenital cataracts and their molecular genetics
    • Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49.
    • (2008) Semin Cell Dev Biol , vol.19 , pp. 134-149
    • Hejtmancik, J.F.1
  • 5
    • 65349103586 scopus 로고    scopus 로고
    • Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
    • Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M. Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis 2009; 15:793-800.
    • (2009) Mol Vis , vol.15 , pp. 793-800
    • Santana, A.1    Waiswol, M.2    Arcieri, E.S.3    de Vasconcellos, J.P.C.4    de Melo, M.B.5
  • 6
    • 62849103664 scopus 로고    scopus 로고
    • Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract
    • Vanita V, Singh JR, Singh D, Varon R, Sperling K. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Mol Vis 2009; 15:476-81.
    • (2009) Mol Vis , vol.15 , pp. 476-481
    • Vanita, V.1    Singh, J.R.2    Singh, D.3    Varon, R.4    Sperling, K.5
  • 8
    • 0032561116 scopus 로고    scopus 로고
    • Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the bA3/A1-crystallin gene
    • Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser- Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the bA3/A1-crystallin gene. Mol Vis 1998; 4:21.
    • (1998) Mol Vis , 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
  • 9
    • 43149114962 scopus 로고    scopus 로고
    • Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts
    • Li FF, Zhu SQ, Wang SZ, Gao C, Huang SZ, Zhang M, Ma X. Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts. Mol Vis 2008; 14:750-5.
    • (2008) Mol Vis , vol.14 , pp. 750-755
    • Li, F.F.1    Zhu, S.Q.2    Wang, S.Z.3    Gao, C.4    Huang, S.Z.5    Zhang, M.6    Ma, X.7
  • 10
    • 43149102909 scopus 로고    scopus 로고
    • A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
    • Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X. A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. Mol Vis 2008; 14:727-31.
    • (2008) Mol Vis , vol.14 , pp. 727-731
    • Yang, J.1    Zhu, Y.2    Gu, F.3    He, X.4    Cao, Z.5    Li, X.6    Tong, Y.7    Ma, X.8
  • 11
    • 34548860092 scopus 로고    scopus 로고
    • A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family
    • Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V. A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. Mol Vis 2007; 13:1657-65.
    • (2007) Mol Vis , vol.13 , pp. 1657-1665
    • Guleria, K.1    Sperling, K.2    Singh, D.3    Varon, R.4    Singh, J.R.5    Vanita, V.6
  • 12
    • 46349090734 scopus 로고    scopus 로고
    • A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin
    • Vanita V, Singh JR, Singh D, Varon R, Sperling K. A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin. Mol Vis 2008; 14:1171-5.
    • (2008) Mol Vis , vol.14 , pp. 1171-1175
    • Vanita, V.1    Singh, J.R.2    Singh, D.3    Varon, R.4    Sperling, K.5
  • 14
    • 58449125533 scopus 로고    scopus 로고
    • Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family
    • Jiang J, Jin C, Wang W, Tang X, Shentu X, Wu R, Wang Y, Xia K, Yao K. Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family. Mol Vis 2009; 15:38-44.
    • (2009) Mol Vis , vol.15 , pp. 38-44
    • Jiang, J.1    Jin, C.2    Wang, W.3    Tang, X.4    Shentu, X.5    Wu, R.6    Wang, Y.7    Xia, K.8    Yao, K.9
  • 15
    • 0034118380 scopus 로고    scopus 로고
    • Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
    • Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat Genet 2000; 25:15-7.
    • (2000) Nat Genet , vol.25 , pp. 15-17
    • Berry, V.1    Francis, P.2    Kaushal, S.3    Moore, A.4    Bhattacharya, S.5
  • 16
    • 0033942142 scopus 로고    scopus 로고
    • Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2
    • Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet 2000; 66:1432-6.
    • (2000) Am J Hum Genet , vol.66 , pp. 1432-1436
    • Jakobs, P.M.1    Hess, J.F.2    Fitzgerald, P.G.3    Kramer, P.4    Weleber, R.G.5    Litt, M.6
  • 20
    • 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
  • 22
    • 34250861238 scopus 로고    scopus 로고
    • Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene
    • Pauli S, Söker T, Klopp N, Illig T, Engel W, Graw J. Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene. Mol Vis 2007; 13:962-7.
    • (2007) Mol Vis , vol.13 , pp. 962-967
    • Pauli, S.1    Söker, T.2    Klopp, N.3    Illig, T.4    Engel, W.5    Graw, J.6
  • 24
    • 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
  • 26
    • 27344433456 scopus 로고    scopus 로고
    • Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract
    • Ma ZW, Zheng JQ, Li J, Li XR, Tang X, Yuan XY, Zhang XM, Sun HM. Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. Br J Ophthalmol 2005; 89:1535-7.
    • (2005) Br J Ophthalmol , vol.89 , pp. 1535-1537
    • Ma, Z.W.1    Zheng, J.Q.2    Li, J.3    Li, X.R.4    Tang, X.5    Yuan, X.Y.6    Zhang, X.M.7    Sun, H.M.8
  • 27
    • 0033942142 scopus 로고    scopus 로고
    • Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2
    • Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet 2000; 66:1432-6.
    • (2000) Am J Hum Genet , vol.66 , pp. 1432-1436
    • Jakobs, P.M.1    Hess, J.F.2    Fitzgerald, P.G.3    Kramer, P.4    Weleber, R.G.5    Litt, M.6
  • 32
    • 2442684463 scopus 로고    scopus 로고
    • CRYBA3/A1 Gene Mutation Associated with Suture-Sparing Autosomal Dominant Congenital Nuclear Cataract: A Novel Phenotype
    • Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Héon E, Munier FL. CRYBA3/A1 Gene Mutation Associated with Suture-Sparing Autosomal Dominant Congenital Nuclear Cataract: A Novel Phenotype. Invest Ophthalmol Vis Sci 2004; 45:1436-41.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1436-1441
    • Ferrini, W.1    Schorderet, D.F.2    Othenin-Girard, P.3    Uffer, S.4    Héon, E.5    Munier, F.L.6
  • 33
    • 34447534326 scopus 로고    scopus 로고
    • Two Chinese families with pulverulent congenital cataracts and ΔG91 CRYBA1 mutations
    • Lu S, Zhao C, Jiao H, Kere J, Tang X, Zhao F, Zhang X, Zhao K, Larsson C. Two Chinese families with pulverulent congenital cataracts and ΔG91 CRYBA1 mutations. Mol Vis 2007; 13:1154-60.
    • (2007) Mol Vis , vol.13 , pp. 1154-1160
    • Lu, S.1    Zhao, C.2    Jiao, H.3    Kere, J.4    Tang, X.5    Zhao, F.6    Zhang, X.7    Zhao, K.8    Larsson, C.9
  • 34
    • 77949322638 scopus 로고    scopus 로고
    • A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree
    • Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, Feng G, He L, Gao L. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis 2010; 16:154-60.
    • (2010) Mol Vis , vol.16 , pp. 154-160
    • Gu, Z.1    Ji, B.2    Wan, C.3    He, G.4    Zhang, J.5    Zhang, M.6    Feng, G.7    He, L.8    Gao, L.9
  • 36
    • 0023034960 scopus 로고
    • Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily
    • Hogg D, Tsui LC, Gorin M, Breitman ML. Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily. J Biol Chem 1986; 261:12420-7.
    • (1986) J Biol Chem , vol.261 , pp. 12420-12427
    • Hogg, D.1    Tsui, L.C.2    Gorin, M.3    Breitman, M.L.4
  • 37
    • 0029803592 scopus 로고    scopus 로고
    • The elusive role of the N-terminal extension of beta A3- and beta A1- crystallin
    • Werten PJ, Carver JA, Jaenicke R, de Jong WW. The elusive role of the N-terminal extension of beta A3- and beta A1- crystallin. Protein Eng 1996; 9:1021-8.
    • (1996) Protein Eng , vol.9 , pp. 1021-1028
    • Werten, P.J.1    Carver, J.A.2    Jaenicke, R.3    de Jong, W.W.4
  • 38
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai K, Sakamoto H. Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene 1994; 141:171-7.
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 39
    • 49149098054 scopus 로고    scopus 로고
    • A metaanalysis of nonsense mutations causing human genetic disease
    • Mort M, Ivanov D, Cooper DN, Chuzhanova NA. A metaanalysis of nonsense mutations causing human genetic disease. Hum Mutat 2008; 29:1037-47.
    • (2008) Hum Mutat , vol.29 , pp. 1037-1047
    • Mort, M.1    Ivanov, D.2    Cooper, D.N.3    Chuzhanova, N.A.4
  • 41
    • 33747493858 scopus 로고    scopus 로고
    • Truncation of Motifs III and IV in Human Lens âA3-Crystallin Destabilizes the Structure
    • Gupta R, Srivastava K, Srivastava OP. Truncation of Motifs III and IV in Human Lens âA3-Crystallin Destabilizes the Structure. Biochemistry 2006; 45:9964-78.
    • (2006) Biochemistry , vol.45 , pp. 9964-9978
    • Gupta, R.1    Srivastava, K.2    Srivastava, O.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.