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Volumn 17, Issue , 2011, Pages 621-626

Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: A mutation screening study

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; GAP JUNCTION ALPHA 8 PROTEIN; GAP JUNCTION PROTEIN; GENOMIC DNA; LENS INTRINSIC MEMBRANE PROTEIN 2; LIM PROTEIN; UNCLASSIFIED DRUG;

EID: 79952828806     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (34)

References (39)
  • 1
    • 33645287990 scopus 로고    scopus 로고
    • The epidemiology of age related eye diseases in Asia
    • [PMID: 16547337]
    • Wong TY, Loon SC, Saw SM. The epidemiology of age related eye diseases in Asia. Br J Ophthalmol 2006; 90:506-11. [PMID: 16547337]
    • (2006) Br J Ophthalmol , vol.90 , pp. 506-611
    • Wong, T.Y.1    Loon, S.C.2    Saw, S.M.3
  • 2
    • 33745359291 scopus 로고    scopus 로고
    • Causes of blindness and visual impairment in urban and rural areas in Beijing: The Beijing Eye Study
    • [PMID: 16647133]
    • Xu L, Wang Y, Li Y, Wang Y, Cui T, Li J, Jonas JB. Causes of blindness and visual impairment in urban and rural areas in Beijing: the Beijing Eye Study. Ophthalmology 2006; 113:1134.e1-11. [PMID: 16647133]
    • (2006) Ophthalmology , vol.113 , Issue.1134 , pp. 11
    • Xu, L.1    Wang, Y.2    Li, Y.3    Wang, Y.4    Cui, T.5    Li, J.6    Jonas, J.B.7
  • 3
    • 0035088540 scopus 로고    scopus 로고
    • Cataract blindness-challenges for the 21st century
    • [PMID: 11285671]
    • Brian G, Taylor H. Cataract blindness-challenges for the 21st century. Bull World Health Organ 2001; 79:249-56. [PMID: 11285671]
    • (2001) Bull World Health Organ , vol.79 , pp. 249-256
    • Brian, G.1    Taylor, H.2
  • 4
    • 0038660165 scopus 로고    scopus 로고
    • Epidemiologic study of age-related cataracts among an elderly Chinese population in Shih-Pai, Taiwan
    • [PMID: 12799231]
    • Tsai SY, Hsu WM, Cheng CY, Liu JH, Chou P. Epidemiologic study of age-related cataracts among an elderly Chinese population in Shih-Pai, Taiwan. Ophthalmology 2003; 110:1089-95. [PMID: 12799231]
    • (2003) Ophthalmology , vol.110 , pp. 1089-1095
    • Tsai, S.Y.1    Hsu, W.M.2    Cheng, C.Y.3    Liu, J.H.4    Chou, P.5
  • 6
    • 11144286385 scopus 로고    scopus 로고
    • Smoking and its association with cataract: Results of the Andhra Pradesh eye disease study from India
    • . [PMID: 15623755]
    • Krishnaiah S, Vilas K, Shamanna BR, Rao GN, Thomas R, Balasubramanian D. Smoking and its association with cataract: results of the Andhra Pradesh eye disease study from India. Invest Ophthalmol Vis Sci 2005; 46:58-65. [PMID: 15623755]
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 58-65
    • Krishnaiah, S.1    Vilas, K.2    Shamanna, B.R.3    Rao, G.N.4    Thomas, R.5    Balasubramanian, D.6
  • 8
    • 0034659685 scopus 로고    scopus 로고
    • Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins
    • [PMID: 10853001]
    • Hammond CJ, Sneider H, Spector TD, Gilbert CE. Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins. N Engl J Med 2000; 342:1786-90. [PMID: 10853001]
    • (2000) N Engl J Med , vol.342 , pp. 1786-1790
    • Hammond, C.J.1    Sneider, H.2    Spector, T.D.3    Gilbert, C.E.4
  • 10
    • 79951578950 scopus 로고    scopus 로고
    • Association between gap junction protein-alpha 8 polymorphisms and age-related cataract
    • [PMID: 20582632]
    • Liu Y, Ke M, Yan M, Guo S, Mothobi ME, Chen Q, Zheng F. Association between gap junction protein-alpha 8 polymorphisms and age-related cataract. Mol Biol Rep 2011; 38:1301-7. [PMID: 20582632]
    • (2011) Mol Biol Rep , vol.38 , pp. 1301-1307
    • Liu, Y.1    Ke, M.2    Yan, M.3    Guo, S.4    Mothobi, M.E.5    Chen, Q.6    Zheng, F.7
  • 11
    • 0347519164 scopus 로고    scopus 로고
    • Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
    • [PMID: 14707519]
    • Karas N, Gobec L, Pfeifer V, Mlinar B, Battelino T, Lukac-Bajalo J. Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract. J Inherit Metab Dis 2003; 26:699-704. [PMID: 14707519]
    • (2003) J Inherit Metab Dis , vol.26 , pp. 699-704
    • Karas, N.1    Gobec, L.2    Pfeifer, V.3    Mlinar, B.4    Battelino, T.5    Lukac-Bajalo, J.6
  • 13
    • 55349108925 scopus 로고    scopus 로고
    • Mutation screening of HSF4 in 150 age-related cataract patients
    • [PMID: 18941546]
    • Shi Y, Shi X, Jin Y, Miao A, Bu L, He J, Jiang H, Lu Y, Kong X, Hu L. Mutation screening of HSF4 in 150 age-related cataract patients. Mol Vis 2008; 14:1850-5. [PMID: 18941546]
    • (2008) Mol Vis , vol.14 , pp. 1850-1855
    • Shi, Y.1    Shi, X.2    Jin, Y.3    Miao, A.4    Bu, L.5    He, J.6    Jiang, H.7    Lu, Y.8    Kong, X.9    Hu, L.10
  • 16
    • 70349384227 scopus 로고    scopus 로고
    • A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract
    • [PMID: 19595763]
    • Bhagyalaxmi SG, Srinivas P, Barton KA, Kumar KR, Vidyavathi M, Petrash JM, Bhanuprakash Reddy G, Padma T. A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. Biochim Biophys Acta 2009; 1792:974-81. [PMID: 19595763]
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 974-981
    • Bhagyalaxmi, S.G.1    Srinivas, P.2    Barton, K.A.3    Kumar, K.R.4    Vidyavathi, M.5    Petrash, J.M.6    Reddy, G.B.7    Padma, T.8
  • 17
    • 58149229871 scopus 로고    scopus 로고
    • Targeted knockout of the mouse betaB2-crystallin gene (Crybb2) induces age-related cataract
    • [PMID: 18719080]
    • Zhang J, Li J, Huang C, Xue L, Peng Y, Fu Q, Gao L, Zhang J, Li W. Targeted knockout of the mouse betaB2-crystallin gene (Crybb2) induces age-related cataract. Invest Ophthalmol Vis Sci 2008; 49:5476-83. [PMID: 18719080]
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 5476-5483
    • Zhang, J.1    Li, J.2    Huang, C.3    Xue, L.4    Peng, Y.5    Fu, Q.6    Gao, L.7    Zhang, J.8    Li, W.9
  • 18
    • 2942532502 scopus 로고    scopus 로고
    • Molecular genetics of age-related cataract
    • [PMID: 15183095]
    • Hejtmancik JF, Kantorow M. Molecular genetics of age-related cataract. Exp Eye Res 2004; 79:3-9. [PMID: 15183095]
    • (2004) Exp Eye Res , vol.79 , pp. 3-9
    • Hejtmancik, J.F.1    Kantorow, M.2
  • 21
    • 0033824238 scopus 로고    scopus 로고
    • Age-related nuclear cataract: A lens transport problem
    • [PMID: 10971179]
    • Truscott RJ. Age-related nuclear cataract: a lens transport problem. Ophthalmic Res 2000; 32:185-94. [PMID: 10971179]
    • (2000) Ophthalmic Res , vol.32 , pp. 185-194
    • Truscott, R.J.1
  • 22
    • 74949108062 scopus 로고    scopus 로고
    • Lens gap junctions in growth, differentiation, and homeostasis
    • [PMID: 20086076]
    • Mathias RT, White TW, Gong X. Lens gap junctions in growth, differentiation, and homeostasis. Physiol Rev 2010; 90:179-206. [PMID: 20086076]
    • (2010) Physiol Rev , vol.90 , pp. 179-206
    • Mathias, R.T.1    White, T.W.2    Gong, X.3
  • 23
    • 0345517256 scopus 로고    scopus 로고
    • Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract
    • [PMID: 10393059]
    • Xu X, Ebihara L. Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract. Invest Ophthalmol Vis Sci 1999; 40:1844-50. [PMID: 10393059]
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 1844-1850
    • Xu, X.1    Ebihara, L.2
  • 25
    • 0037087452 scopus 로고    scopus 로고
    • Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels
    • [PMID: 11944087]
    • Xu X, Berthoud VM, Beyer EC, Ebihara L. Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels. J Membr Biol 2002; 186:101-12. [PMID: 11944087]
    • (2002) J Membr Biol , vol.186 , pp. 101-112
    • Xu, X.1    Berthoud, V.M.2    Beyer, E.C.3    Ebihara, L.4
  • 26
    • 33750589568 scopus 로고    scopus 로고
    • Functional characterization of a naturally occurring Cx50 truncation
    • [PMID: 17003442]
    • DeRosa AM, Mui R, Srinivas M, White TW. Functional characterization of a naturally occurring Cx50 truncation. Invest Ophthalmol Vis Sci 2006; 47:4474-81. [PMID: 17003442]
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 4474-4481
    • Derosa, A.M.1    Mui, R.2    Srinivas, M.3    White, T.W.4
  • 27
    • 43949140835 scopus 로고    scopus 로고
    • A novel GJA8 mutation causing a recessive triangular cataract
    • [PMID: 18483562]
    • Schmidt W, Klopp N, Illig T, Graw J. A novel GJA8 mutation causing a recessive triangular cataract. Mol Vis 2008; 14:851-6. [PMID: 18483562]
    • (2008) Mol Vis , vol.14 , pp. 851-856
    • Schmidt, W.1    Klopp, N.2    Illig, T.3    Graw, J.4
  • 28
    • 0035697326 scopus 로고    scopus 로고
    • Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract
    • . [PMID: 11846744]
    • Polyakov AV, Shagina IA, Khlebnikova OV, Evgrafov OV. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet 2001; 60:476-8. [PMID: 11846744]
    • (2001) Clin Genet , vol.60 , pp. 476-478
    • Polyakov, A.V.1    Shagina, I.A.2    Khlebnikova, O.V.3    Evgrafov, O.V.4
  • 30
    • 40649092855 scopus 로고    scopus 로고
    • A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract
    • [PMID: 18334966]
    • Yan M, Xiong C, Ye SQ, Chen Y, Ke M, Zheng F, Zhou X. A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract. Mol Vis 2008; 14:418-24. [PMID: 18334966]
    • (2008) Mol Vis , vol.14 , pp. 418-424
    • Yan, M.1    Xiong, C.2    Ye, S.Q.3    Chen, Y.4    Ke, M.5    Zheng, F.6    Zhou, X.7
  • 31
    • 0032055044 scopus 로고    scopus 로고
    • Structural arrangement of lens fiber cell plasma membrane protein MP20
    • [PMID: 9593642]
    • Arneson ML, Louis C. Structural arrangement of lens fiber cell plasma membrane protein MP20. Exp Eye Res 1998; 66:495-509. [PMID: 9593642]
    • (1998) Exp Eye Res , vol.66 , pp. 495-509
    • Arneson, M.L.1    Louis, C.2
  • 32
    • 0026786352 scopus 로고
    • The distribution of the fiber cell intrinsic membrane proteins MP20 and connexin 46 in the bovine lens
    • [PMID: 1331134]
    • Tenbroek E, Arneson M, Jaris L, Louis C. The distribution of the fiber cell intrinsic membrane proteins MP20 and connexin 46 in the bovine lens. J Cell Sci 1992; 103:245-57. [PMID: 1331134]
    • (1992) J Cell Sci , vol.103 , pp. 245-257
    • Tenbroek, E.1    Arneson, M.2    Jaris, L.3    Louis, C.4
  • 33
    • 0028793694 scopus 로고
    • Epithelial membrane protein-1, peripheral myelin protein22, and lens membrane protein 20 define a novel gene family
    • [PMID: 7499407]
    • Taylor V, Welcher AA, Program AE, Suter U. Epithelial membrane protein-1, peripheral myelin protein22, and lens membrane protein 20 define a novel gene family. J Biol Chem 1995; 270:28824-33. [PMID: 7499407]
    • (1995) J Biol Chem , vol.270 , pp. 28824-28833
    • Taylor, V.1    Welcher, A.A.2    Program, A.E.3    Suter, U.4
  • 35
    • 0034595482 scopus 로고    scopus 로고
    • Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant
    • [PMID: 10851259]
    • Steele EC Jr, Wang JH, Lo WK, Saperstein DA, Li X, Church RL. Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant. Mol Vis 2000; 6:85-94. [PMID: 10851259]
    • (2000) Mol Vis , vol.6 , pp. 85-94
    • Steele, J.E.C.1    Wang, J.H.2    Lo, W.K.3    Saperstein, D.A.4    Li, X.5    Church, R.L.6
  • 36
    • 0036256255 scopus 로고    scopus 로고
    • In sickness and in health: The importance of translational regulation
    • [PMID: 11970919]
    • Reynolds PR. In sickness and in health: the importance of translational regulation. Arch Dis Child 2002; 86:322-4. [PMID: 11970919]
    • (2002) Arch Dis Child , vol.86 , pp. 322-324
    • Reynolds, P.R.1
  • 37
    • 34548052424 scopus 로고    scopus 로고
    • Translation matters: Protein synthesis defects in inherited disease
    • [PMID: 17680008]
    • Scheper GC, van der Knaap MS, Proud CG. Translation matters: protein synthesis defects in inherited disease. Nat Rev Genet 2007; 8:711-23. [PMID: 17680008]
    • (2007) Nat Rev Genet , vol.8 , pp. 711-723
    • Scheper, G.C.1    Knaap, M.S.V.D.2    Proud, C.G.3
  • 38
    • 64749099749 scopus 로고    scopus 로고
    • Role of 5′-and 3′-untranslated regions of mRNAs in human diseases
    • [PMID: 19275763]
    • Chatterjee S, Pal JK. Role of 5′-and 3′-untranslated regions of mRNAs in human diseases. Biol Cell 2009; 101:251-62. [PMID: 19275763]
    • (2009) Biol Cell , vol.101 , pp. 251-262
    • Chatterjee, S.1    Pal, J.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.