Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract

被引:24
作者
Moore, AT [1 ]
机构
[1] Inst Ophthalmol, Div Inherited Eye Dis, London EC1V 9EL, England
关键词
D O I
10.1136/bjo.88.1.2
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:2 / 3
页数:2
相关论文
共 32 条
[21]   A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q [J].
Mackay, DS ;
Boskovska, OB ;
Knopf, HLS ;
Lampi, KJ ;
Shiels, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1216-1221
[22]   Two interactive genes responsible for a new inherited cataract (RCT) in the mouse [J].
Maeda, YY ;
Funata, N ;
Takahama, S ;
Sugata, Y ;
Yonekawa, H .
MAMMALIAN GENOME, 2001, 12 (04) :278-283
[23]   Crystal cataracts: Human genetic cataract caused by protein crystallization [J].
Pande, A ;
Pande, J ;
Asherie, N ;
Lomakin, A ;
Ogun, O ;
King, J ;
Benedek, GB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (11) :6116-6120
[24]  
PIATIGORSKY J, 2003, GENOMICS, V3, P131
[25]   Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract [J].
Polyakov, AV ;
Shagina, IA ;
Khlebnikova, OV ;
Evgrafov, OV .
CLINICAL GENETICS, 2001, 60 (06) :476-478
[26]  
Pras E, 2000, INVEST OPHTH VIS SCI, V41, P3511
[27]   A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family [J].
Pras, E ;
Levy-Nissenbaum, E ;
Bakhan, T ;
Lahat, H ;
Assia, E ;
Geffen-Carmi, N ;
Frydman, M ;
Goldman, B ;
Pras, E .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (05) :1363-1367
[28]   Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3) [J].
Rees, MI ;
Watts, P ;
Fenton, I ;
Clarke, A ;
Snell, RG ;
Owen, MJ ;
Gray, J .
HUMAN GENETICS, 2000, 106 (02) :206-209
[29]   A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD [J].
Semina, EV ;
Ferrell, RE ;
Mintz-Hittner, HA ;
Bitoun, P ;
Alward, WLM ;
Reiter, RS ;
Funkhauser, C ;
Daack-Hirsch, S ;
Murray, JC .
NATURE GENETICS, 1998, 19 (02) :167-170
[30]   A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q [J].
Shiels, A ;
Mackay, D ;
Ionides, A ;
Berry, V ;
Moore, A ;
Bhattacharya, S .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :526-532