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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Cataract


Psychiatry related information on Cataract


High impact information on Cataract

  • Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome [10].
  • As ocular cataracts are a characteristic feature of DM, these results demonstrate that decreased SIX5 transcription is important in the aetiology of DM [11].
  • Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q [12].
  • MHA and SBS can be differentiated by subtle ultrastructural leukocyte inclusion features, whereas FTNS is distinguished by the additional Alport-like clinical features of sensorineural deafness, cataracts and nephritis [3].
  • A 17-bp insertion in the 3'-end of the coding sequence, resulting in a frame shift, occurred in a patient with ASMD and cataracts, and a G-->A substitution, changing a codon for serine into a codon for asparagine, in the 5'-end of the gene occurred in a patient with congenital cataracts [13].

Chemical compound and disease context of Cataract


Biological context of Cataract


Anatomical context of Cataract

  • On consideration of the proposed function of BFSP2 in the lens cytoskeleton, it is likely that this alteration is the cause of cataracts in the members of the family we studied [24].
  • This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease [25].
  • Bru heterozygous mice display defects similar to Axenfeld-Rieger anomaly, including iris defects, corneal opacity, vacuolar cataracts, significant iris/corneal adhesions, buphthalmos and optic nerve cupping, a sign indicative of glaucoma [26].
  • The frequency of diabetic cataracts was reduced by statil, and erythrocyte and kidney sorbitol levels were normalized, confirming the efficacy of ARI [27].
  • The results of this x-ray diffraction study provide evidence for fundamental changes in the lens fiber cell plasma membrane structure in cataracts, including the presence of more prominent and highly ordered, immiscible cholesterol domains [28].

Gene context of Cataract

  • A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD [13].
  • Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts [11].
  • Moreover, these observations predict that less severe defects in the AQP0 protein may contribute to lens opacity in patients with common, less fulminant forms of cataracts [22].
  • Targeted null mutations in Gja8 and Gja3 in mice cause cataracts with recessive inheritance [29].
  • Three of four transgenic families expressing the truncated FGF receptor exhibited lens defects ranging from cataracts to severe microphthalmia [30].

Analytical, diagnostic and therapeutic context of Cataract


  1. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Klesert, T.R., Cho, D.H., Clark, J.I., Maylie, J., Adelman, J., Snider, L., Yuen, E.C., Soriano, P., Tapscott, S.J. Nat. Genet. (2000) [Pubmed]
  2. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N.I., Harting, I., North, K., Smith, J., Muntoni, F., Brockington, M., Quijano-Roy, S., Renault, F., Herrmann, R., Hendershot, L.M., Schröder, J.M., Lochmüller, H., Topaloglu, H., Voit, T., Weis, J., Ebinger, F., Zerres, K. Nat. Genet. (2005) [Pubmed]
  3. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Seri, M., Cusano, R., Gangarossa, S., Caridi, G., Bordo, D., Lo Nigro, C., Ghiggeri, G.M., Ravazzolo, R., Savino, M., Del Vecchio, M., d'Apolito, M., Iolascon, A., Zelante, L.L., Savoia, A., Balduini, C.L., Noris, P., Magrini, U., Belletti, S., Heath, K.E., Babcock, M., Glucksman, M.J., Aliprandis, E., Bizzaro, N., Desnick, R.J., Martignetti, J.A. Nat. Genet. (2000) [Pubmed]
  4. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Braverman, N., Lin, P., Moebius, F.F., Obie, C., Moser, A., Glossmann, H., Wilcox, W.R., Rimoin, D.L., Smith, M., Kratz, L., Kelley, R.I., Valle, D. Nat. Genet. (1999) [Pubmed]
  5. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Kitao, S., Shimamoto, A., Goto, M., Miller, R.W., Smithson, W.A., Lindor, N.M., Furuichi, Y. Nat. Genet. (1999) [Pubmed]
  6. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Lin, T., Orrison, B.M., Leahey, A.M., Suchy, S.F., Bernard, D.J., Lewis, R.A., Nussbaum, R.L. Am. J. Hum. Genet. (1997) [Pubmed]
  7. Physical health monitoring of patients with schizophrenia. Marder, S.R., Essock, S.M., Miller, A.L., Buchanan, R.W., Casey, D.E., Davis, J.M., Kane, J.M., Lieberman, J.A., Schooler, N.R., Covell, N., Stroup, S., Weissman, E.M., Wirshing, D.A., Hall, C.S., Pogach, L., Pi-Sunyer, X., Bigger, J.T., Friedman, A., Kleinberg, D., Yevich, S.J., Davis, B., Shon, S. The American journal of psychiatry. (2004) [Pubmed]
  8. Mice transgenic for Alzheimer disease beta-amyloid develop lens cataracts that are rescued by antioxidant treatment. Melov, S., Wolf, N., Strozyk, D., Doctrow, S.R., Bush, A.I. Free Radic. Biol. Med. (2005) [Pubmed]
  9. Preferences of Women Evaluating Risks of Tamoxifen (POWER) study of preferences for tamoxifen for breast cancer risk reduction. Melnikow, J., Paterniti, D., Azari, R., Kuenneth, C., Birch, S., Kuppermann, M., Nuovo, J., Keyzer, J., Henderson, S. Cancer (2005) [Pubmed]
  10. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Varon, R., Gooding, R., Steglich, C., Marns, L., Tang, H., Angelicheva, D., Yong, K.K., Ambrugger, P., Reinhold, A., Morar, B., Baas, F., Kwa, M., Tournev, I., Guerguelcheva, V., Kremensky, I., Lochmüller, H., Müllner-Eidenböck, A., Merlini, L., Neumann, L., Bürger, J., Walter, M., Swoboda, K., Thomas, P.K., von Moers, A., Risch, N., Kalaydjieva, L. Nat. Genet. (2003) [Pubmed]
  11. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Sarkar, P.S., Appukuttan, B., Han, J., Ito, Y., Ai, C., Tsai, W., Chai, Y., Stout, J.T., Reddy, S. Nat. Genet. (2000) [Pubmed]
  12. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Berry, V., Francis, P., Kaushal, S., Moore, A., Bhattacharya, S. Nat. Genet. (2000) [Pubmed]
  13. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Semina, E.V., Ferrell, R.E., Mintz-Hittner, H.A., Bitoun, P., Alward, W.L., Reiter, R.S., Funkhauser, C., Daack-Hirsch, S., Murray, J.C. Nat. Genet. (1998) [Pubmed]
  14. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Stambolian, D., Ai, Y., Sidjanin, D., Nesburn, K., Sathe, G., Rosenberg, M., Bergsma, D.J. Nat. Genet. (1995) [Pubmed]
  15. Use of inhaled corticosteroids and the risk of cataracts. Cumming, R.G., Mitchell, P., Leeder, S.R. N. Engl. J. Med. (1997) [Pubmed]
  16. Near-total glutathione depletion and age-specific cataracts induced by buthionine sulfoximine in mice. Calvin, H.I., Medvedovsky, C., Worgul, B.V. Science (1986) [Pubmed]
  17. Ah locus: genetic differences in susceptibility to cataracts induced by acetaminophen. Shichi, H., Gaasterland, D.E., Jensen, N.M., Nebert, D.W. Science (1978) [Pubmed]
  18. Inhibitors of cholesterol synthesis and cataracts. Cenedella, R.J. JAMA (1987) [Pubmed]
  19. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C., Moxley, R.T. Nat. Genet. (1997) [Pubmed]
  20. A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. Lyon, M.F., Jamieson, R.V., Perveen, R., Glenister, P.H., Griffiths, R., Boyd, Y., Glimcher, L.H., Favor, J., Munier, F.L., Black, G.C. Hum. Mol. Genet. (2003) [Pubmed]
  21. Huntingtin Interacting Protein 1 mutations lead to abnormal hematopoiesis, spinal defects and cataracts. Oravecz-Wilson, K.I., Kiel, M.J., Li, L., Rao, D.S., Saint-Dic, D., Kumar, P.D., Provot, M.M., Hankenson, K.D., Reddy, V.N., Lieberman, A.P., Morrison, S.J., Ross, T.S. Hum. Mol. Genet. (2004) [Pubmed]
  22. Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. Francis, P., Chung, J.J., Yasui, M., Berry, V., Moore, A., Wyatt, M.K., Wistow, G., Bhattacharya, S.S., Agre, P. Hum. Mol. Genet. (2000) [Pubmed]
  23. Sorbinil prevents diabetes-induced increases in vascular permeability but does not alter collagen cross-linking. Williamson, J.R., Chang, K., Rowold, E., Marvel, J., Tomlinson, M., Sherman, W.R., Ackermann, K.E., Kilo, C. Diabetes (1985) [Pubmed]
  24. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Conley, Y.P., Erturk, D., Keverline, A., Mah, T.S., Keravala, A., Barnes, L.R., Bruchis, A., Hess, J.F., FitzGerald, P.G., Weeks, D.E., Ferrell, R.E., Gorin, M.B. Am. J. Hum. Genet. (2000) [Pubmed]
  25. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Baumgartner, M.R., Hu, C.A., Almashanu, S., Steel, G., Obie, C., Aral, B., Rabier, D., Kamoun, P., Saudubray, J.M., Valle, D. Hum. Mol. Genet. (2000) [Pubmed]
  26. Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Van Agtmael, T., Schlötzer-Schrehardt, U., McKie, L., Brownstein, D.G., Lee, A.W., Cross, S.H., Sado, Y., Mullins, J.J., Pöschl, E., Jackson, I.J. Hum. Mol. Genet. (2005) [Pubmed]
  27. Aldose reductase inhibition and glomerular abnormalities in diabetic rats. Daniels, B.S., Hostetter, T.H. Diabetes (1989) [Pubmed]
  28. Evidence for distinct cholesterol domains in fiber cell membranes from cataractous human lenses. Jacob, R.F., Cenedella, R.J., Mason, R.P. J. Biol. Chem. (2001) [Pubmed]
  29. A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Chang, B., Wang, X., Hawes, N.L., Ojakian, R., Davisson, M.T., Lo, W.K., Gong, X. Hum. Mol. Genet. (2002) [Pubmed]
  30. Expression of a truncated FGF receptor results in defective lens development in transgenic mice. Robinson, M.L., MacMillan-Crow, L.A., Thompson, J.A., Overbeek, P.A. Development (1995) [Pubmed]
  31. Tamoxifen blocks chloride channels. A possible mechanism for cataract formation. Zhang, J.J., Jacob, T.J., Valverde, M.A., Hardy, S.P., Mintenig, G.M., Sepúlveda, F.V., Gill, D.R., Hyde, S.C., Trezise, A.E., Higgins, C.F. J. Clin. Invest. (1994) [Pubmed]
  32. Phase-separation inhibitors and prevention of selenite cataract. Clark, J.I., Steele, J.E. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  33. Galactose tolerance studies of individuals with reduced galactose pathway activity. Mellman, W.J., Rawnsley, B.E., Nichols, C.W., Needelman, B., Mennuti, M.T., Malone, J., Tedesco, T.A. Am. J. Hum. Genet. (1975) [Pubmed]
  34. Long-term vitamin C supplement use and prevalence of early age-related lens opacities. Jacques, P.F., Taylor, A., Hankinson, S.E., Willett, W.C., Mahnken, B., Lee, Y., Vaid, K., Lahav, M. Am. J. Clin. Nutr. (1997) [Pubmed]
  35. Lovastatin. A preliminary review of its pharmacodynamic properties and therapeutic use in hyperlipidaemia. Henwood, J.M., Heel, R.C. Drugs (1988) [Pubmed]
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