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Volumn 18, Issue , 2012, Pages 968-973

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; ISOLEUCINE; PHENYLALANINE;

EID: 84860852787     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (18)
  • 1
    • 0027270179 scopus 로고
    • Causes of childhood blindness: Results from west Africa, south India and Chile
    • [PMID: 8325414]
    • Gilbert CE, Canovas R, Hagan M, Rao S, Foster A. Causes of childhood blindness: results from west Africa, south India and Chile. Eye (Lond) 1993; 7:184-8. [PMID: 8325414]
    • (1993) Eye (Lond) , vol.7 , pp. 184-188
    • Gilbert, C.E.1    Canovas, R.2    Hagan, M.3    Rao, S.4    Foster, A.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. 165-73
    • Shiels, A.1    Hejtmancik, J.F.2
  • 4
    • 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. 2813-20
    • 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
  • 5
    • 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. 134-49
    • Hejtmancik, J.F.1
  • 7
    • 80053003155 scopus 로고    scopus 로고
    • Mutation analysis of 12 genes in Chinese families with congenital cataracts
    • [PMID: 21866213]
    • Sun W, Xiao X, Li S, Guo X, Zhang Q. Mutation analysis of 12 genes in Chinese families with congenital cataracts. Mol Vis 2011; 17:2197-206. [PMID: 21866213]
    • (2011) Mol Vis , vol.17 , pp. 2197-206
    • Sun, W.1    Xiao, X.2    Li, S.3    Guo, X.4    Zhang, Q.5
  • 8
    • 79952586085 scopus 로고    scopus 로고
    • Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts
    • [PMID: 21402992]
    • Wang KJ, Wang BB, Zhang F, Zhao Y, Ma X, Zhu SQ. Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol 2011; 129:337-43. [PMID: 21402992]
    • (2011) Arch Ophthalmol , vol.129 , pp. 337-43
    • Wang, K.J.1    Wang, B.B.2    Zhang, F.3    Zhao, Y.4    Ma, X.5    Zhu, S.Q.6
  • 9
    • 17344390158 scopus 로고    scopus 로고
    • Plasma membrane channels formed by connexins: Their regulation and functions
    • [PMID: 14506308]
    • Sáez JC, Berthoud VM, Branes MC, Martínez AD, Beyer EC. Plasma membrane channels formed by connexins: their regulation and functions. Physiol Rev 2003; 83:1359-400. [PMID: 14506308]
    • (2003) Physiol Rev , vol.83 , pp. 1359-400
    • Sáez, J.C.1    Berthoud, V.M.2    Branes, M.C.3    Martínez, A.D.4    Beyer, E.C.5
  • 10
    • 35548930792 scopus 로고    scopus 로고
    • Gap junction channel structure in the early 21st century: Facts and fantasies
    • [PMID: 17945477]
    • Yeager M, Harris AL. Gap junction channel structure in the early 21st century: facts and fantasies. Curr Opin Cell Biol 2007; 19:521-8. [PMID: 17945477]
    • (2007) Curr Opin Cell Biol , vol.19 , pp. 521-528
    • Yeager, M.1    Harris, A.L.2
  • 11
    • 0028906886 scopus 로고
    • The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains
    • [PMID: 7622617]
    • Leube RE. The topogenic fate of the polytopic transmembrane proteins, synaptophysin and connexin, is determined by their membrane-spanning domains. J Cell Sci 1995; 108:883-94. [PMID: 7622617]
    • (1995) J Cell Sci , vol.108 , pp. 883-94
    • Leube, R.E.1
  • 12
    • 0141919839 scopus 로고    scopus 로고
    • Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels
    • [PMID: 12975451]
    • Kronengold J, Trexler EB, Bukauskas FF, Bargiello TA, Verselis VK. Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels. J Gen Physiol 2003; 122:389-405. [PMID: 12975451]
    • (2003) J Gen Physiol , vol.122 , pp. 389-405
    • Kronengold, J.1    Trexler, E.B.2    Bukauskas, F.F.3    Bargiello, T.A.4    Verselis, V.K.5
  • 14
    • 0037059499 scopus 로고    scopus 로고
    • Unique and redundant connexin contributions to lens development
    • [PMID: 11786642]
    • White TW. Unique and redundant connexin contributions to lens development. Science 2002; 295:319-20. [PMID: 11786642]
    • (2002) Science , vol.295 , pp. 319-20
    • White, T.W.1
  • 15
    • 78651289158 scopus 로고    scopus 로고
    • Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development
    • [PMID: 21091421]
    • Jiang JX. Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development. Curr Mol Med 2010; 10:851-63. [PMID: 21091421]
    • (2010) Curr Mol Med , vol.10 , pp. 851-63
    • Jiang, J.X.1
  • 16
    • 84863012137 scopus 로고    scopus 로고
    • Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family
    • [PMID: 22312188]
    • Zhang X, Wang L, Wang J, Dong B, Li Y. Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. Mol Vis 2012; 18:203-10. [PMID: 22312188]
    • (2012) Mol Vis , vol.18 , pp. 203-10
    • Zhang, X.1    Wang, L.2    Wang, J.3    Dong, B.4    Li, Y.5
  • 17
    • 0036501610 scopus 로고    scopus 로고
    • Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
    • [PMID: 11875045]
    • Chang B, Wang X, Hawes NL, Ojakian R, Davisson MT, Lo WK, Gong XA. Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum Mol Genet 2002; 11:507-13. [PMID: 11875045]
    • (2002) Hum Mol Genet , vol.11 , pp. 507-13
    • Chang, B.1    Wang, X.2    Hawes, N.L.3    Ojakian, R.4    Davisson, M.T.5    Lo, W.K.6    Gong, X.A.7
  • 18
    • 36249012485 scopus 로고    scopus 로고
    • Connexins in lens development and cataractogenesis
    • [PMID: 17578632]
    • Gong X, Cheng C, Xia CH. Connexins in lens development and cataractogenesis. J Membr Biol 2007; 218:9-12. [PMID: 17578632]
    • (2007) J Membr Biol , vol.218 , pp. 9-12
    • Gong, X.1    Cheng, C.2    Xia, C.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.