Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. Frizzled 4 gene (FZD4)mutations in patients with familial exudative vitreoretinopathy with variableexpressivity. Br J Ophthalmol. 2003 Oct;87(10):1291-5.
Nallathambi J, Shukla D, Rajendran A, Namperumalsamy P, Muthulakshmi R,Sundaresan P. Identification of novel FZD4 mutations in Indian patients withfamilial exudative vitreoretinopathy. Mol Vis. 2006 Sep 21;12:1086-92.
Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of thegenotype-phenotype correlation in familial exudative vitreoretinopathy withmutations in the LRP5 and/or FZD4 genes. Hum Mutat. 2005 Aug;26(2):104-12.
Qin M, Kondo H, Tahira T, Hayashi K. Moderate reduction of Norrin signalingactivity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. Hum Genet. 2008 Jan;122(6):615-23.
Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE,Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K,Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Mutations in LRP5 or FZD4underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Am J Hum Genet. 2004 Apr;74(4):721-30.
Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF. Spectrum andfrequency of FZD4 mutations in familial exudative vitreoretinopathy. InvestOphthalmol Vis Sci. 2004 Jul;45(7):2083-90.
Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familialexudative vitreoretinopathy and Norrie disease. Semin Ophthalmol. 2007Oct-Dec;22(4):211-7. Review.
Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, JiangL, Tasman W, Zhang K, Nathans J. Vascular development in the retina and innerear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.Cell. 2004 Mar 19;116(6):883-95.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Vivi Li
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?