Citations for
1ADCC1, 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
2CRYAA
The eye lens chaperone alpha-crystallin forms defined globular assemblies.
Peschek J, Braun N, Franzmann TM, Georgalis Y, Haslbeck M, Weinkauf S, Buchner J.
Proc Natl Acad Sci U S A 106(32):13272-7. Epub 2009 Jul 27. 2009
3ADCC1, 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
4CRYAA, MSRA, MSRB2, MSRB3, SEPX1
Methionine sulfoxide reductase A (MsrA) restores alpha-crystallin chaperone activity lost upon methionine oxidation.
Brennan LA, Lee W, Giblin FJ, David LL, Kantorow M.
Biochim Biophys Acta 1790(12):1665-72. Epub 2009 Sep 3.PMID: 19733220 2009
5ADCC1, 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
6CRYAA
Interaction of C-terminal truncated human alphaA-crystallins with target proteins.
Kumarasamy A, Abraham EC.
PLoS One 3(9):e3175.PMID: 18779867 2008
7CRYAA
Structural and functional roles of deamidation and/or truncation of N- or C-termini in human alpha A-crystallin.
Chaves JM, Srivastava K, Gupta R, Srivastava OP.
Biochemistry 47(38):10069-83. Epub 2008 Aug 29.PMID: 18754677 2008
8CRYAA
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morle L.
Arch Ophthalmol 125(2):213-6. 2007
9ADCC1, 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
10ADCC1, 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
11CRYAA
The cataract-causing mutation G98R in human alphaA-crystallin leads to folding defects and loss of chaperone activity.
Singh D, Raman B, Ramakrishna T, Rao ChM.
Mol Vis 12:1372-9. 2006
12CRYAA
Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
Graw J, Klopp N, Illig T, Preising MN, Lorenz B.
Graefes Arch Clin Exp Ophthalmol 244(8):912-9. Epub 2006 Feb 2. 2006
13CRYAA, CRYAB
The interaction between alphaA- and alphaB-crystallin is sequence-specific.
Sreelakshmi Y, Sharma KK.
Mol Vis 12:581-7. 2006
14CRYAA, ARCC1
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.
Santhiya ST, Soker T, Klopp N, Illig T, Prakash MV, Selvaraj B, Gopinath PM, Graw J.
Mol Vis 12:768-73. 2006
15ADCC1, 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
16ADCC1, 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
17ARCC1, CRYAA
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E.
Invest Ophthalmol Vis Sci 41(11):3511-5. 2000
18ADCC1, 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
19CRYAA,CRYAB,HSPBL1,HSPBL2,HSPBL3,HSPB1,HSPB2,HSPB3,HSPB7
Structure-function studies on small heat shock protein oligomeric assembly and interaction with unfolded polypeptides.
Leroux MR, Melki R, Gordon B, Batelier G, Candido EP.
J Biol Chem 272(39):24646-56 1997
20CRYAA
Vertebrate lens alpha-crystallins are modified by O-linked N-acetylglucosamine.
Roquemore EP, Dell A, Morris HR, Panico M, Reason AJ, Savoy LA, Wistow GJ, Zigler JS Jr, Earles BJ, Hart GW.
J Biol Chem 267(1):555-63.PMID: 1730617 1992
21CRYAA
PvuII and XhoI/EcoRV polymorphisms adjacent to the alpha A-crystallin (CRYA1) gene on human chromosome 21.
Petersen MB, et al.
Nucleic Acids Res 18 : 4300. 1990
22CRYAA
Confirmation of assignment of the human î1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3.
Hawkins JW, Van Keuren ML, Piatigorsky J, Law ML, Patterson D, Kao FT.
Hum Genet 76 : 375-380. 1987
23CRYAA,CRYAB,HSPBL1,HSPBL2,HSPBL3,HSPB1,HSPB2,HSPB3,HSPB7
Sequence and organization of genes encoding the human 27 kDa heat shock protein.
Hickey E, Brandon SE, Potter R, Stein G, Stein J, Weber LA.
Nucleic Acids Res 14(10):4127-45 1986
24CRYAA
Assignment of the human alphaA-crystallin gene (CRYA1) to chromosome 21.
Quax-Jeuken Y, et al.
(HGM8) Cytogenet Cell Genet 40 : 727-728. 1985