| 1 | CTM, HSF4, MAF
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| Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
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| Hansen L, Mikkelsen A, Nurnberg P, Nurnberg G, Anjum I, Eiberg H, Rosenberg T.
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| Invest Ophthalmol Vis Sci nvest Ophthalmol Vis Sci. 2009 Jan 31. [Epub ahead of print] 2009
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| 2 | CTM, HSF4
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| Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.
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| Shi X, Cui B, Wang Z, Weng L, Xu Z, Ma J, Xu G, Kong X, Hu L.
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| BMC Mol Biol 10:10.PMID: 19224648 2009
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| 3 | CTM, HSF4
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| A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
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| Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J.
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| BMC Med Genet 9:99.PMID: 19014451 2008
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| 4 | HSF4, CTM
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| Novel HSF4 mutation causes congenital total white cataract in a Chinese family.
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| Ke T, Wang QK, Ji B, Wang X, Liu P, Zhang X, Tang Z, Ren X, Liu M.
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| Am J Ophthalmol 142(2):298-303. 2006
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| 5 | HSF4, CTM, CAAR
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| Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
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| Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER.
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| Hum Genet 117(5):452-9. Epub 2005 Jun 16. 2005
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| 6 | HSF4, CTM
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| A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
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| Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF.
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| Invest Ophthalmol Vis Sci 45(8):2716-21. 2004
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| 7 | CTM, HSF4
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| Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
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| Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui B, Xia Y, Liu J, Hu L, Zhao G, Hayden MR, Kong X.
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| Nat Genet 31(3):276-8. 2002
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| 8 | CTM
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| Cytogenetic and clinical findings in a patient with a deletion of 16q23.1 : first report of bilateral cataracts and a 16q deletion.
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| Monaghan KG, Van Dyke DL, Wiktor A, Feldman GL.
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| Am J Med Genet 73(2):180-3. 1997
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| 9 | CTM
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| Autosomal dominant congenital cataract. Morphology and genetic mapping.
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| Marner E, et al.
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| Acta Ophthalmol 87 : 151-158. 1989
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| 10 | CTM
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| Marner's cataract (CAM) assigned to chromosome 16 : linkage to haptoglobin.
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| Eiberg H, et al.
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| Clin Genet 34 : 272-275. 1988
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