Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity

被引:49
作者
MacDonald, MLE [1 ]
Goldberg, YP [1 ]
MacFarlane, J [1 ]
Samuels, ME [1 ]
Trese, MT [1 ]
Shastry, BS [1 ]
机构
[1] Oakland Univ, Dept Biol Sci, Rochester, MI 48309 USA
关键词
D O I
10.1111/j.1399-0004.2005.00408.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:363 / 366
页数:4
相关论文
共 24 条
[1]   A MUTATION IN THE NORRIE DISEASE GENE (NDP) ASSOCIATED WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY [J].
CHEN, ZY ;
BATTINELLI, EM ;
FIELDER, A ;
BUNDEY, S ;
SIMS, K ;
BREAKEFIELD, XO ;
CRAIG, IW .
NATURE GENETICS, 1993, 5 (02) :180-183
[2]   FAMILIAL EXUDATIVE VITREORETINOPATHY [J].
CRISWICK, VG ;
SCHEPENS, CL .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1969, 68 (04) :578-&
[3]   A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13 [J].
Downey, LM ;
Keen, TJ ;
Roberts, E ;
Mansfield, DC ;
Bamashmus, M ;
Inglehearn, CF .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :778-781
[4]  
Haider MZ, 2002, J BIOMED SCI, V9, P365
[5]   Angiotensin-converting enzyme gene insertion/deletion polymorphism in Kuwaiti children with retinopathy of prematurity [J].
Haider, MZ ;
Devarajan, LV ;
Al-Essa, M ;
Kumar, H .
BIOLOGY OF THE NEONATE, 2002, 82 (02) :84-88
[6]   Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity [J].
Hiraoka, M ;
Berinstein, DM ;
Trese, MT ;
Shastry, BS .
JOURNAL OF HUMAN GENETICS, 2001, 46 (04) :178-181
[7]   Mutant Frizzled 4 associated with vitreoretinopathy traps wild-type Frizzled in the endoplasmic reticulum by oligomerization [J].
Kaykas, A ;
Yang-Snyder, J ;
Héroux, M ;
Shah, KV ;
Bouvier, M ;
Moon, RT .
NATURE CELL BIOLOGY, 2004, 6 (01) :52-U13
[8]   Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity [J].
Kondo, H ;
Hayashi, H ;
Oshima, K ;
Tahira, T ;
Hayashi, K .
BRITISH JOURNAL OF OPHTHALMOLOGY, 2003, 87 (10) :1291-1295
[9]  
Mechoulam Hadas, 2003, Am J Pharmacogenomics, V3, P261, DOI 10.2165/00129785-200303040-00004
[10]   Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency [J].
Mintz-Hittner, HA ;
Miyashiro, MJ ;
Knight-Nanan, DM ;
O'Malley, RE ;
Marlar, RA .
OPHTHALMOLOGY, 1999, 106 (08) :1525-1530