| 1 | CPP1, EPHA2
|
| A Novel Human Congenital Cataract Mutation in EPHA2 Kinase Domain (p.G668D) Alters Receptor Stability and Function.
|
| Zhai Y, Zhu S, Li J, Yao K.
|
| Invest Ophthalmol Vis Sci. Nov 1;60(14):4717-4726. doi: 10.1167/iovs.19-27370 2019
|
| 2 | CPP1, EPHA2
|
| Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
|
| Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.
|
| Mol Vis 16:511-7.PMID: 20361013 2010
|
| 3 | CPP1, EPHA2
|
| EPHA2 is associated with age-related cortical cataract in mice and humans.
|
| Jun G, Guo H, Klein BE, Klein R, Wang JJ, Mitchell P, Miao H, Lee KE, Joshi T, Buck M, Chugha P, Bardenstein D, Klein AP, Bailey-Wilson JE, Gong X, Spector TD, Andrew T, Hammond CJ, Elston RC, Iyengar SK, Wang B.
|
| PLoS Genet 5(7):e1000584. Epub 2009 Jul 31. 2009
|
| 4 | CPP1, EPHA2
|
| Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
|
| Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, Craig JE, Shang D, Zhao X, Mackey DA, Moore AT, Luo Y, Zhang J, Zhang X.
|
| Hum Mutat 30(5):E603-11.PMID: 19306328 2009
|
| 5 | CPP1, EPHA2
|
| The EPHA2 gene is associated with cataracts linked to chromosome 1p.
|
| Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF.
|
| Mol Vis 14:2042-55. Epub 2008 Nov 12.PMID: 19005574 2008
|
| 6 | CPP1, CTPP
|
| A locus for autosomal dominant posterior polar cataract on chromosome 1p.
|
| Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A.
|
| Hum Mol Genet 6(1):47-51. 1997
|