| 1 | ADCC1, CRYAA
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| Activation of the unfolded protein response by a cataract-associated αA-crystallin mutation.
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| Watson GW, Andley UP.
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| Biochem Biophys Res Commun 401(2):192-6. Epub 2010 Sep 15.
2010
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| 2 | CRYAA
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| The eye lens chaperone alpha-crystallin forms defined globular assemblies.
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| Peschek J, Braun N, Franzmann TM, Georgalis Y, Haslbeck M, Weinkauf S, Buchner J.
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| Proc Natl Acad Sci U S A 106(32):13272-7. Epub 2009 Jul 27.
2009
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| 3 | ADCC1, CRYAA
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| An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.
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| Zhang LY, Yam GH, Tam PO, Lai RY, Lam DS, Pang CP, Fan DS.
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| Mol Vis 15:1127-38.PMID: 19503744 2009
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| 4 | CRYAA, MSRA, MSRB2, MSRB3, SEPX1
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| Methionine sulfoxide reductase A (MsrA) restores alpha-crystallin chaperone activity lost upon methionine oxidation.
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| Brennan LA, Lee W, Giblin FJ, David LL, Kantorow M.
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| Biochim Biophys Acta 1790(12):1665-72. Epub 2009 Sep 3.PMID: 19733220 2009
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| 5 | ADCC1, CRYAA
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| Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
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| Richter L, Flodman P, Barria von-Bischhoffshausen F, Burch D, Brown S, Nguyen L, Turner J, Spence MA, Bateman JB.
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| Am J Med Genet A 146(7):833-42. 2008
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| 6 | CRYAA
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| Interaction of C-terminal truncated human alphaA-crystallins with target proteins.
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| Kumarasamy A, Abraham EC.
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| PLoS One 3(9):e3175.PMID: 18779867 2008
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| 7 | CRYAA
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| Structural and functional roles of deamidation and/or truncation of N- or C-termini in human alpha A-crystallin.
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| Chaves JM, Srivastava K, Gupta R, Srivastava OP.
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| Biochemistry 47(38):10069-83. Epub 2008 Aug 29.PMID: 18754677 2008
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| 8 | CRYAA
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| New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
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| Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morle L.
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| Arch Ophthalmol 125(2):213-6. 2007
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| 9 | ADCC1, CCL, CRYAA, CRYGD, CZP1, GJA8
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| Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
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| Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.
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| Invest Ophthalmol Vis Sci 48(9):3937-44. 2007
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| 10 | ADCC1, CRYAA
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| A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
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| Vanita V, Singh JR, Hejtmancik JF, Nuernberg P, Hennies HC, Singh D, Sperling K.
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| Mol Vis 12:518-22. 2006
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| 11 | CRYAA
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| The cataract-causing mutation G98R in human alphaA-crystallin leads to folding defects and loss of chaperone activity.
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| Singh D, Raman B, Ramakrishna T, Rao ChM.
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| Mol Vis 12:1372-9. 2006
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| 12 | CRYAA
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| Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
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| Graw J, Klopp N, Illig T, Preising MN, Lorenz B.
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| Graefes Arch Clin Exp Ophthalmol 244(8):912-9. Epub 2006 Feb 2. 2006
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| 13 | CRYAA, CRYAB
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| The interaction between alphaA- and alphaB-crystallin is sequence-specific.
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| Sreelakshmi Y, Sharma KK.
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| Mol Vis 12:581-7. 2006
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| 14 | CRYAA, ARCC1
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| Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.
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| Santhiya ST, Soker T, Klopp N, Illig T, Prakash MV, Selvaraj B, Gopinath PM, Graw J.
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| Mol Vis 12:768-73. 2006
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| 15 | ADCC1, CRYAA
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| Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
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| Mackay DS, Andley UP, Shiels A.
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| Eur J Hum Genet 11(10):784-93. 2003
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| 16 | ADCC1, CRYAA, CZP1, GJA8
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| Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.
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| Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.
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| Am J Ophthalmol 129(2):159-65. 2000
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| 17 | ARCC1, CRYAA
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| A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
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| Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E.
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| Invest Ophthalmol Vis Sci 41(11):3511-5. 2000
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| 18 | ADCC1, CRYAA
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| Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
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| Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG.
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| Hum Mol Genet 7(3):471-4. 1998
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| 19 | CRYAA,CRYAB,HSPBL1,HSPBL2,HSPBL3,HSPB1,HSPB2,HSPB3,HSPB7
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| Structure-function studies on small heat shock protein oligomeric assembly and interaction with unfolded polypeptides.
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| Leroux MR, Melki R, Gordon B, Batelier G, Candido EP.
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| J Biol Chem 272(39):24646-56 1997
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| 20 | CRYAA
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| Vertebrate lens alpha-crystallins are modified by O-linked N-acetylglucosamine.
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| Roquemore EP, Dell A, Morris HR, Panico M, Reason AJ, Savoy LA, Wistow GJ, Zigler JS Jr, Earles BJ, Hart GW.
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| J Biol Chem 267(1):555-63.PMID: 1730617 1992
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| 21 | CRYAA
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| PvuII and XhoI/EcoRV polymorphisms adjacent to the alpha A-crystallin (CRYA1) gene on human chromosome 21.
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| Petersen MB, et al.
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| Nucleic Acids Res 18 : 4300. 1990
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| 22 | CRYAA
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| Confirmation of assignment of the human î1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3.
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| Hawkins JW, Van Keuren ML, Piatigorsky J, Law ML, Patterson D, Kao FT.
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| Hum Genet 76 : 375-380. 1987
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| 23 | CRYAA,CRYAB,HSPBL1,HSPBL2,HSPBL3,HSPB1,HSPB2,HSPB3,HSPB7
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| Sequence and organization of genes encoding the human 27 kDa heat shock protein.
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| Hickey E, Brandon SE, Potter R, Stein G, Stein J, Weber LA.
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| Nucleic Acids Res 14(10):4127-45 1986
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| 24 | CRYAA
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| Assignment of the human alphaA-crystallin gene (CRYA1) to chromosome 21.
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| Quax-Jeuken Y, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 727-728. 1985
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