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Volumn 21, Issue 7-8, 2010, Pages 361-369

A 1-bp deletion in the γc-crystallin leads to dominant cataracts in mice

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GAMMA C CRYSTALLIN; GAMMA CRYSTALLIN; UNCLASSIFIED DRUG;

EID: 77956942282     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-010-9275-5     Document Type: Article
Times cited : (15)

References (34)
  • 1
    • 32144432437 scopus 로고    scopus 로고
    • The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling
    • DOI 10.1093/bioinformatics/bti770
    • K Arnold L Bordoli J Kopp T Schwede 2006 The SWISS-MODEL Workspace: a web-based environment for protein structure homology modelling Bioinformatics 22 195 201 10.1093/bioinformatics/bti770 1:CAS:528:DC%2BD28XovVCltw%3D%3D 16301204 (Pubitemid 43205406)
    • (2006) Bioinformatics , vol.22 , Issue.2 , pp. 195-201
    • Arnold, K.1    Bordoli, L.2    Kopp, J.3    Schwede, T.4
  • 2
    • 0035370789 scopus 로고    scopus 로고
    • Systematic approaches to mouse mutagenesis
    • DOI 10.1016/S0959-437X(00)00189-1
    • SD Brown R Balling 2001 Systematic approaches to mouse mutagenesis Curr Opin Genet Dev 11 268 273 10.1016/S0959-437X(00)00189-1 1:CAS:528: DC%2BD3MXktFyju7w%3D 11377962 (Pubitemid 32480292)
    • (2001) Current Opinion in Genetics and Development , vol.11 , Issue.3 , pp. 268-273
    • Brown, S.D.M.1    Balling, R.2
  • 4
    • 34547395801 scopus 로고    scopus 로고
    • A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: Evidence of clinical heterogeneity
    • 1:CAS:528:DC%2BD2sXptlKlsr4%3D 17679936
    • LM Gonzalez-Huerta OM Messina-Baas SA Cuevas-Covarrubias 2007 A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity Mol Vis 13 1333 1338 1:CAS:528:DC%2BD2sXptlKlsr4%3D 17679936
    • (2007) Mol Vis , vol.13 , pp. 1333-1338
    • Gonzalez-Huerta, L.M.1    Messina-Baas, O.M.2    Cuevas-Covarrubias, S.A.3
  • 5
    • 0030725582 scopus 로고    scopus 로고
    • The crystallins: Genes, proteins, and diseases
    • 1:CAS:528:DyaK2sXnsFOnsrs%3D 9426193
    • J Graw 1997 The crystallins: genes, proteins, and diseases Biol Chem 378 1331 1348 1:CAS:528:DyaK2sXnsFOnsrs%3D 9426193
    • (1997) Biol Chem , vol.378 , pp. 1331-1348
    • Graw, J.1
  • 6
    • 11144298645 scopus 로고    scopus 로고
    • Congenital hereditary cataracts
    • DOI 10.1387/ijdb.041854jg
    • J Graw 2004 Congenital hereditary cataracts Int J Dev Biol 48 1031 1044 10.1387/ijdb.041854jg 1:CAS:528:DC%2BD2MXivFegtrk%3D 15558493 (Pubitemid 40039190)
    • (2004) International Journal of Developmental Biology , vol.48 , Issue.8-9 , pp. 1031-1044
    • Graw, J.1
  • 7
    • 77951884939 scopus 로고    scopus 로고
    • Mouse models of cataract
    • 10.1007/s12041-009-0066-2 1:CAS:528:DC%2BC3cXjtVSqsLY%3D 20090208
    • J Graw 2009 Mouse models of cataract J Genet 88 469 486 10.1007/s12041-009-0066-2 1:CAS:528:DC%2BC3cXjtVSqsLY%3D 20090208
    • (2009) J Genet , vol.88 , pp. 469-486
    • Graw, J.1
  • 8
    • 0037351438 scopus 로고    scopus 로고
    • Developmental genetics in ophthalmology
    • DOI 10.1076/opge.24.1.1.13888
    • J Graw J Löster 2003 Developmental genetics in ophthalmology Ophthalmic Genet 24 1 33 10.1076/opge.24.1.1.13888 12660863 (Pubitemid 36390724)
    • (2003) Ophthalmic Genetics , vol.24 , Issue.1 , pp. 1-33
    • Graw, J.1    Loster, J.2
  • 9
    • 0035103787 scopus 로고    scopus 로고
    • ENU-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts
    • 1:CAS:528:DC%2BD3MXisFyktbo%3D 11238416
    • J Graw N Klopp J Löster D Soewarto H Fuchs, et al. 2001 ENU-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts Genetics 157 1313 1320 1:CAS:528:DC%2BD3MXisFyktbo%3D 11238416
    • (2001) Genetics , vol.157 , pp. 1313-1320
    • Graw, J.1    Klopp, N.2    Löster, J.3    Soewarto, D.4    Fuchs, H.5
  • 10
    • 0036137847 scopus 로고    scopus 로고
    • A 6-bp deletion in the Cryg gene leading to a nuclear and radial cataract in the mouse
    • 11773036
    • J Graw A Neubäuser-Klaus J Löster J Favor 2002 A 6-bp deletion in the Cryg gene leading to a nuclear and radial cataract in the mouse Invest Ophthalmol Vis Sci 43 236 240 11773036
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 236-240
    • Graw, J.1    Neubäuser-Klaus, A.2    Löster, J.3    Favor, J.4
  • 11
    • 2142810974 scopus 로고    scopus 로고
    • Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse
    • DOI 10.1167/iovs.03-0811
    • J Graw A Neubäuser-Klaus N Klopp PB Selby J Löster, et al. 2004 Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse Invest Ophthalmol Vis Sci 45 1202 1213 10.1167/iovs.03-0811 15037589 (Pubitemid 38869028)
    • (2004) Investigative Ophthalmology and Visual Science , vol.45 , Issue.4 , pp. 1202-1213
    • Graw, J.1    Neuhauser-Klaus, A.2    Klopp, N.3    Selby, P.B.4    Loster, J.5    Favor, J.6
  • 12
    • 0031473847 scopus 로고    scopus 로고
    • SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modeling
    • DOI 10.1002/elps.1150181505
    • N Guex MC Peitsch 1997 SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modelling Electrophoresis 18 2714 2723 10.1002/elps.1150181505 1:CAS:528:DyaK1cXhvFaks70%3D 9504803 (Pubitemid 28059943)
    • (1997) Electrophoresis , vol.18 , Issue.15 , pp. 2714-2723
    • Guex, N.1    Peitsch, M.C.2
  • 14
    • 77956945660 scopus 로고    scopus 로고
    • The anatomical and pathological changes in the crystalline lens of a congenital γs-crystallin gene mutated mouse model
    • 1:CAS:528:DC%2BD1cXitVyjtbg%3D
    • Y Ji Y Lu X Kong S Yan 2007 The anatomical and pathological changes in the crystalline lens of a congenital γS-crystallin gene mutated mouse model Chin J Optom Ophthalmol 9 145 148 1:CAS:528:DC%2BD1cXitVyjtbg%3D
    • (2007) Chin J Optom Ophthalmol , vol.9 , pp. 145-148
    • Ji, Y.1    Lu, Y.2    Kong, X.3    Yan, S.4
  • 15
    • 53349177502 scopus 로고    scopus 로고
    • Fine localization of a new cataract locus, Kec, on mouse chromosome 14 and exclusion of candidate genes as the gene that causes cataract in the Kec mouse
    • 1:CAS:528:DC%2BD1cXht1Gls7rL
    • M Kang JW Cho JK Kim E Kim JY Kim, et al. 2008 Fine localization of a new cataract locus, Kec, on mouse chromosome 14 and exclusion of candidate genes as the gene that causes cataract in the Kec mouse BMP Rep 41 651 656 1:CAS:528:DC%2BD1cXht1Gls7rL
    • (2008) BMP Rep , vol.41 , pp. 651-656
    • Kang, M.1    Cho, J.W.2    Kim, J.K.3    Kim, E.4    Kim, J.Y.5
  • 17
    • 0026717906 scopus 로고
    • Allelism tests of 15 dominant cataract mutations in mice
    • 10.1017/S0016672300030482 1:STN:280:DyaK38zotVCksg%3D%3D 1511869
    • J Kratochvilova J Favor 1992 Allelism tests of 15 dominant cataract mutations in mice Genet Res 59 199 203 10.1017/S0016672300030482 1:STN:280:DyaK38zotVCksg%3D%3D 1511869
    • (1992) Genet Res , vol.59 , pp. 199-203
    • Kratochvilova, J.1    Favor, J.2
  • 18
    • 39549086848 scopus 로고    scopus 로고
    • Dense nuclear cataract caused by the gamma B-crystallin S11R point mutation
    • 10.1167/iovs.07-0942 18172107
    • L Li B Chang C Cheng D Chang NL Hawes, et al. 2008 Dense nuclear cataract caused by the gamma B-crystallin S11R point mutation Invest Ophthalmol Vis Sci 49 304 309 10.1167/iovs.07-0942 18172107
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 304-309
    • Li, L.1    Chang, B.2    Cheng, C.3    Chang, D.4    Hawes, N.L.5
  • 20
    • 41149143108 scopus 로고    scopus 로고
    • The orphan G protein-coupled recptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development
    • 1:CAS:528:DC%2BD1cXitl2lsrk%3D
    • PG Matteson J Desai R Korstanje G Lazar TE Borsuk, et al. 2008 The orphan G protein-coupled recptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development Physiol Genomics 105 2088 2093 1:CAS:528:DC%2BD1cXitl2lsrk%3D
    • (2008) Physiol Genomics , vol.105 , pp. 2088-2093
    • Matteson, P.G.1    Desai, J.2    Korstanje, R.3    Lazar, G.4    Borsuk, T.E.5
  • 21
    • 42749085832 scopus 로고    scopus 로고
    • Mutation of Dock5, a member of the guanine exchange factor Dock180 superfamily, in the rupture of lens cataract mouse
    • 10.1016/j.exer.2008.02.011 1:CAS:528:DC%2BD1cXlslylsLc%3D 18396277
    • N Omi E Kiyokawa M Matsuda K Kinoshita S Yamada, et al. 2008 Mutation of Dock5, a member of the guanine exchange factor Dock180 superfamily, in the rupture of lens cataract mouse Exp Eye Res 86 828 834 10.1016/j.exer.2008.02.011 1:CAS:528:DC%2BD1cXlslylsLc%3D 18396277
    • (2008) Exp Eye Res , vol.86 , pp. 828-834
    • Omi, N.1    Kiyokawa, E.2    Matsuda, M.3    Kinoshita, K.4    Yamada, S.5
  • 22
    • 0034045990 scopus 로고    scopus 로고
    • A 5-base insertion in the γC-crystallin gene is associated with antosomal dominant variable zonular pulverulent cataract
    • DOI 10.1007/s004390050021
    • Z Ren A Li BS Shastry T Padma R Ayyagari, et al. 2000 A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract Hum Genet 106 531 537 10.1007/s004390050021 1:CAS:528:DC%2BD3cXktVeksb0%3D 10914683 (Pubitemid 30406679)
    • (2000) Human Genetics , vol.106 , Issue.5 , pp. 531-537
    • Ren, Z.1    Li, A.2    Shastry, B.S.3    Padma, T.4    Ayyagari, R.5    Scott, M.H.6    Parks, M.M.7    Kaiser-Kupfer, M.I.8    Hejtmancik, J.F.9
  • 24
    • 0345550308 scopus 로고    scopus 로고
    • Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton
    • DOI 10.1016/j.exer.2003.09.001
    • A Sandilands X Wang AM Hutcheson J James AR Prescott, et al. 2004 Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton Exp Eye Res 78 109 123 10.1016/j.exer.2003.09.001 1:CAS:528:DC%2BD3sXps1eru78%3D 14667833 (Pubitemid 37518250)
    • (2004) Experimental Eye Research , vol.78 , Issue.1 , pp. 109-123
    • Sandilands, A.1    Wang, X.2    Hutcheson, A.M.3    James, J.4    Prescott, A.R.5    Wegener, A.6    Pekny, M.7    Gong, X.8    Quinlan, R.A.9
  • 25
    • 65349103586 scopus 로고    scopus 로고
    • Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
    • 1:CAS:528:DC%2BD1MXltlGiu74%3D 19390652
    • A Santana M Waiswol ES Arcieri JP Cabral de Vasconcellos M Barbosa de Melo 2009 Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families Mol Vis 15 793 800 1:CAS:528:DC%2BD1MXltlGiu74%3D 19390652
    • (2009) Mol Vis , vol.15 , pp. 793-800
    • Santana, A.1    Waiswol, M.2    Arcieri, E.S.3    Cabral De Vasconcellos, J.P.4    Barbosa De Melo, M.5
  • 26
    • 0036093256 scopus 로고    scopus 로고
    • Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts
    • 10.1136/jmg.39.5.352 1:CAS:528:DC%2BD38Xks1yisro%3D 12011157
    • ST Santhiya MS Manohar D Rawlley P Vijayalakshmi P Namperumalsamy, et al. 2002 Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts J Med Genet 39 352 358 10.1136/jmg.39.5.352 1:CAS:528:DC%2BD38Xks1yisro%3D 12011157
    • (2002) J Med Genet , vol.39 , pp. 352-358
    • Santhiya, S.T.1    Manohar, M.S.2    Rawlley, D.3    Vijayalakshmi, P.4    Namperumalsamy, P.5
  • 27
    • 0042622380 scopus 로고    scopus 로고
    • SWISS-MODEL: An automated protein homology-modeling server
    • DOI 10.1093/nar/gkg520
    • T Schwede J Kopp N Guex MC Peitsch 2003 SWISS-MODEL: an automated protein homology-modeling server Nucleic Acids Res 31 3381 3385 10.1093/nar/gkg520 1:CAS:528:DC%2BD3sXltVWjsLg%3D 12824332 (Pubitemid 37442164)
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3381-3385
    • Schwede, T.1    Kopp, J.2    Guex, N.3    Peitsch, M.C.4
  • 28
    • 62349119722 scopus 로고    scopus 로고
    • Removal of Hsf4 leads to cataract development in mice through down-regulation of gammaS-crystallin and Bfsp expression
    • 10.1186/1471-2199-10-10 19224648
    • X Shi B Cui Z Wang L Weng Z Xu, et al. 2009 Removal of Hsf4 leads to cataract development in mice through down-regulation of gammaS-crystallin and Bfsp expression BMC Mol Biol 10 10 10.1186/1471-2199-10-10 19224648
    • (2009) BMC Mol Biol , vol.10 , pp. 10
    • Shi, X.1    Cui, B.2    Wang, Z.3    Weng, L.4    Xu, Z.5
  • 29
    • 0032789443 scopus 로고    scopus 로고
    • Structure of the crystallins
    • 10627816
    • C Slingsby NJ Clout 1999 Structure of the crystallins Eye 13 395 402 10627816
    • (1999) Eye , vol.13 , pp. 395-402
    • Slingsby, C.1    Clout, N.J.2
  • 30
    • 33744911966 scopus 로고    scopus 로고
    • Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice
    • DOI 10.1016/j.ygeno.2006.02.012, PII S088875430600053X
    • E Talamas L Jackson M Koeberl T Jackson JL McElwee, et al. 2006 Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldisl mice Genomics 88 44 51 10.1016/j.ygeno.2006.02.012 1:CAS:528:DC%2BD28XlsFCms78%3D 16595169 (Pubitemid 43851176)
    • (2006) Genomics , vol.88 , Issue.1 , pp. 44-51
    • Talamas, E.1    Jackson, L.2    Koeberl, M.3    Jackson, T.4    McElwee, J.L.5    Hawes, N.L.6    Chang, B.7    Jablonski, M.M.8    Sidjanin, D.J.9
  • 31
    • 0023917935 scopus 로고
    • Lens crystallins: The evolution and expression of proteins for a highly specialized tissue
    • 10.1146/annurev.bi.57.070188.002403 1:CAS:528:DyaL1cXkvVOjt78%3D 3052280
    • GJ Wistow J Piatigorsky 1988 Lens crystallins: the evolution and expression of proteins for a highly specialized tissue Annu Rev Biochem 57 479 504 10.1146/annurev.bi.57.070188.002403 1:CAS:528:DyaL1cXkvVOjt78%3D 3052280
    • (1988) Annu Rev Biochem , vol.57 , pp. 479-504
    • Wistow, G.J.1    Piatigorsky, J.2
  • 32
    • 48949116525 scopus 로고    scopus 로고
    • A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
    • 1:CAS:528:DC%2BD1cXhtVChu7bP 18618005
    • K Yao C Jin N Zhu W Wang R Wu, et al. 2008 A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family Mol Vis 14 1272 1276 1:CAS:528:DC%2BD1cXhtVChu7bP 18618005
    • (2008) Mol Vis , vol.14 , pp. 1272-1276
    • Yao, K.1    Jin, C.2    Zhu, N.3    Wang, W.4    Wu, R.5
  • 33
    • 77956941490 scopus 로고    scopus 로고
    • Cultivation of a mouse model of inherited cataract (BALB/c-Cat) - A preliminary report
    • G Zhao Y Yang R Zhang J Gu P Xu, et al. 2009 Cultivation of a mouse model of inherited cataract (BALB/c-Cat) - A preliminary report Chin J Comput Med 19 63 65
    • (2009) Chin J Comput Med , vol.19 , pp. 63-65
    • Zhao, G.1    Yang, Y.2    Zhang, R.3    Gu, J.4    Xu, P.5
  • 34
    • 77956915167 scopus 로고    scopus 로고
    • Mutation, distribution, positional cloning for cataract in house mouse
    • L Zhao S Bao G Zhao Y Liang K Li, et al. 2010 Mutation, distribution, positional cloning for cataract in house mouse Chin J Comput Med 20 62 66
    • (2010) Chin J Comput Med , vol.20 , pp. 62-66
    • Zhao, L.1    Bao, S.2    Zhao, G.3    Liang, Y.4    Li, K.5


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