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Volumn 17, Issue , 2011, Pages 70-77

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; EYE PROTEIN; MAJOR INTRINSIC PROTEIN; UNCLASSIFIED DRUG;

EID: 79551699434     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (34)

References (29)
  • 1
    • 1942468794 scopus 로고    scopus 로고
    • Molecular genetic basis of inherited cataract and associated phenotypes
    • [PMID: 15110667]
    • Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004; 49:300-15. [PMID: 15110667]
    • (2004) Surv Ophthalmol , vol.49 , pp. 300-315
    • Reddy, M.A.1    Francis, P.J.2    Berry, V.3    Bhattacharya, S.S.4    Moore, A.T.5
  • 2
    • 33846944686 scopus 로고    scopus 로고
    • Genetic origins of cataract
    • [PMID: 17296892]
    • Shiels A, Hejtmancik JF. Genetic origins of cataract. Arch Ophthalmol 2007; 125:165-73. [PMID: 17296892]
    • (2007) Arch Ophthalmol , vol.125 , pp. 165-173
    • Shiels, A.1    Hejtmancik, J.F.2
  • 4
    • 39149086399 scopus 로고    scopus 로고
    • Congenital cataracts and their molecular genetics
    • [PMID: 18035564]
    • Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49. [PMID: 18035564]
    • (2008) Semin Cell Dev Biol , vol.19 , pp. 134-149
    • Hejtmancik, J.F.1
  • 5
    • 77956487367 scopus 로고    scopus 로고
    • Progress in pathogenic genes and their functions of congenital cataract
    • [PMID: 20450675]
    • Wang KJ, Zhu SQ, Cheng J. Progress in pathogenic genes and their functions of congenital cataract. Zhonghua Yan Ke Za Zhi 2010; 46:280-4. [PMID: 20450675]
    • (2010) Zhonghua Yan Ke Za Zhi , vol.46 , pp. 280-284
    • Wang, K.J.1    Zhu, S.Q.2    Cheng, J.3
  • 6
    • 77649246610 scopus 로고    scopus 로고
    • A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family
    • [PMID: 20019893]
    • Wang K, Wang B, Wang J, Zhou S, Yun B, Suo P, Cheng J, Ma X, Zhu S. A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. Mol Vis 2009; 15:2813-20. [PMID: 20019893]
    • (2009) Mol Vis , vol.15 , pp. 2813-2820
    • Wang, K.1    Wang, B.2    Wang, J.3    Zhou, S.4    Yun, B.5    Suo, P.6    Cheng, J.7    Ma, X.8    Zhu, S.9
  • 7
    • 77955601897 scopus 로고    scopus 로고
    • Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
    • [PMID: 20431721]
    • Zhou Z, Hu S, Wang B, Zhou N, Zhou S, Ma X, Qi Y. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3). Mol Vis 2010; 16:713-9. [PMID: 20431721]
    • (2010) Mol Vis , vol.16 , pp. 713-719
    • Zhou, Z.1    Hu, S.2    Wang, B.3    Zhou, N.4    Zhou, S.5    Ma, X.6    Qi, Y.7
  • 8
    • 34248663555 scopus 로고    scopus 로고
    • A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract
    • [PMID: 17531125]
    • Wang J, Ma X, Gu F, Liu NP, Hao XL, Wang KJ, Wang NL, Zhu SQ. A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. Chin Med J (Engl) 2007; 120:820-4. [PMID: 17531125]
    • (2007) Chin Med J (Engl) , vol.120 , pp. 820-824
    • Wang, J.1    Ma, X.2    Gu, F.3    Liu, N.P.4    Hao, X.L.5    Wang, K.J.6    Wang, N.L.7    Zhu, S.Q.8
  • 9
    • 34548840252 scopus 로고    scopus 로고
    • A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family
    • [PMID: 17893667]
    • Gu F, Zhai H, Li D, Zhao L, Li C, Huang S, Ma X. A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. Mol Vis 2007; 13:1651-6. [PMID: 17893667]
    • (2007) Mol Vis , vol.13 , pp. 1651-1656
    • Gu, F.1    Zhai, H.2    Li, D.3    Zhao, L.4    Li, C.5    Huang, S.6    Ma, X.7
  • 11
    • 0032853219 scopus 로고    scopus 로고
    • Cellular and molecular biology of the aquaporin water channels
    • [PMID: 10872456]
    • Borgnia M, Nielsen S, Engel A, Agre P. Cellular and molecular biology of the aquaporin water channels. Annu Rev Biochem 1999; 68:425-58. [PMID: 10872456]
    • (1999) Annu Rev Biochem , vol.68 , pp. 425-458
    • Borgnia, M.1    Nielsen, S.2    Engel, A.3    Agre, P.4
  • 12
    • 61449279992 scopus 로고    scopus 로고
    • Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts
    • [PMID: 19096783]
    • Chepelinsky AB. Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts. Handb Exp Pharmacol 2009; 190:265-97. [PMID: 19096783]
    • (2009) Handb Exp Pharmacol , vol.190 , pp. 265-297
    • Chepelinsky, A.B.1
  • 15
    • 0034161393 scopus 로고    scopus 로고
    • The importance of aquaporin water channel protein structures
    • [PMID: 10698922]
    • Engel A, Fujiyoshi Y, Agre P. The importance of aquaporin water channel protein structures. EMBO J 2000; 19:800-6. [PMID: 10698922]
    • (2000) EMBO J , vol.19 , pp. 800-806
    • Engel, A.1    Fujiyoshi, Y.2    Agre, P.3
  • 17
    • 4444382267 scopus 로고    scopus 로고
    • Aquaporin-0 membrane junctions form upon proteolytic cleavage
    • [PMID: 15351655]
    • Gonen T, Cheng Y, Kistler J, Walz T. Aquaporin-0 membrane junctions form upon proteolytic cleavage. J Mol Biol 2004; 342:1337-45.[PMID: 15351655]
    • (2004) J Mol Biol , vol.342 , pp. 1337-1345
    • Gonen, T.1    Cheng, Y.2    Kistler, J.3    Walz, T.4
  • 18
    • 70449707096 scopus 로고    scopus 로고
    • Intact AQP0 performs cell-to-cell adhesion
    • [PMID: 19857466]
    • Kumari SS, Varadaraj K. Intact AQP0 performs cell-to-cell adhesion. Biochem Biophys Res Commun 2009; 390:1034-9. [PMID: 19857466]
    • (2009) Biochem Biophys Res Commun , vol.390 , pp. 1034-1039
    • Kumari, S.S.1    Varadaraj, K.2
  • 19
    • 0030031158 scopus 로고    scopus 로고
    • Mutations in the founder of the MIP gene family underlie cataract development in the mouse
    • [PMID: 8563764]
    • Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet 1996; 12:212-5. [PMID: 8563764]
    • (1996) Nat Genet , vol.12 , pp. 212-215
    • Shiels, A.1    Bassnett, S.2
  • 20
    • 34948835215 scopus 로고    scopus 로고
    • A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family
    • [PMID: 17960133]
    • Lin H, Hejtmancik JF, Qi Y. A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family. Mol Vis 2007; 13:1822-7. [PMID: 17960133]
    • (2007) Mol Vis , vol.13 , pp. 1822-1827
    • Lin, H.1    Hejtmancik, J.F.2    Qi, Y.3
  • 21
    • 0031011374 scopus 로고    scopus 로고
    • Three-dimensional organization of a human water channel
    • [PMID: 9177354]
    • Cheng A, van Hoek AN, Yeager M, Verkman AS, Mitra AK. Three-dimensional organization of a human water channel. Nature 1997; 387:627-30. [PMID: 9177354]
    • (1997) Nature , vol.387 , pp. 627-630
    • Cheng, A.1    van Hoek, A.N.2    Yeager, M.3    Verkman, A.S.4    Mitra, A.K.5
  • 22
    • 0026781952 scopus 로고
    • Processing of mutant cystic fibrosis transmembrane conductance regulator is temperaturesensitive
    • [PMID: 1380673]
    • Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, Welsh MJ. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperaturesensitive. Nature 1992; 358:761-4. [PMID: 1380673]
    • (1992) Nature , vol.358 , pp. 761-764
    • Denning, G.M.1    Anderson, M.P.2    Amara, J.F.3    Marshall, J.4    Smith, A.E.5    Welsh, M.J.6
  • 23
    • 0032524048 scopus 로고    scopus 로고
    • Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones
    • [PMID: 9593782]
    • Tamarappoo BK, Verkman AS. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J Clin Invest 1998; 101:2257-67. [PMID: 9593782]
    • (1998) J Clin Invest , vol.101 , pp. 2257-2267
    • Tamarappoo, B.K.1    Verkman, A.S.2
  • 24
    • 77952295312 scopus 로고    scopus 로고
    • A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family
    • [PMID: 20361015]
    • Wang W, Jiang J, Zhu Y, Li J, Jin C, Shentu X, Yao K. A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family. Mol Vis 2010; 16:534-9. [PMID: 20361015]
    • (2010) Mol Vis , vol.16 , pp. 534-539
    • Wang, W.1    Jiang, J.2    Zhu, Y.3    Li, J.4    Jin, C.5    Shentu, X.6    Yao, K.7
  • 25
    • 0034118380 scopus 로고    scopus 로고
    • Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
    • [PMID: 10802646]
    • 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. [PMID: 10802646]
    • (2000) Nat Genet , vol.25 , pp. 15-17
    • Berry, V.1    Francis, P.2    Kaushal, S.3    Moore, A.4    Bhattacharya, S.5
  • 26
    • 58449125533 scopus 로고    scopus 로고
    • Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family
    • [PMID: 19137077]
    • 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. [PMID: 19137077]
    • (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
  • 29
    • 46049085584 scopus 로고    scopus 로고
    • Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract
    • [PMID: 18501347]
    • Varadaraj K, Kumari SS, Patil R, Wax MB, Mathias RT. Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract. Exp Eye Res 2008; 87:9-21. [PMID: 18501347]
    • (2008) Exp Eye Res , vol.87 , pp. 9-21
    • Varadaraj, K.1    Kumari, S.S.2    Patil, R.3    Wax, M.B.4    Mathias, R.T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.