| 1 | ADCC1, CRYAA
|
| Activation of the unfolded protein response by a cataract-associated αA-crystallin mutation.
|
| Watson GW, Andley UP.
|
| Biochem Biophys Res Commun 401(2):192-6. Epub 2010 Sep 15.
2010
|
| 2 | ADCC1, CRYAA
|
| An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.
|
| Zhang LY, Yam GH, Tam PO, Lai RY, Lam DS, Pang CP, Fan DS.
|
| Mol Vis 15:1127-38.PMID: 19503744 2009
|
| 3 | ADCC1, CRYAA
|
| Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
|
| Richter L, Flodman P, Barria von-Bischhoffshausen F, Burch D, Brown S, Nguyen L, Turner J, Spence MA, Bateman JB.
|
| Am J Med Genet A 146(7):833-42. 2008
|
| 4 | ADCC1, CCL, CRYAA, CRYGD, CZP1, GJA8
|
| Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
|
| Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.
|
| Invest Ophthalmol Vis Sci 48(9):3937-44. 2007
|
| 5 | ADCC1, CRYAA
|
| A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
|
| Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K.
|
| Mol Vis 12:518-22. 2006
|
| 6 | ADCC1, CRYAA
|
| Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
|
| Mackay DS, Andley UP, Shiels A.
|
| Eur J Hum Genet 11(10):784-93. 2003
|
| 7 | ADCC1, CRYAA, CZP1, GJA8
|
| Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.
|
| Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.
|
| Am J Ophthalmol 129(2):159-65. 2000
|
| 8 | ADCC1, CRYAA
|
| Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
|
| Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG.
|
| Hum Mol Genet 7(3):471-4. 1998
|