Affiliation: GSF-National Research Center for Environment and Health
- Graw J, Loster J, Soewarto D, Fuchs H, Meyer B, Reis A, et al. Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. Invest Ophthalmol Vis Sci. 2001;42:2909-15 pubmed..The mutation leads to progressive opacification of the lens. Compared with the beta- and gamma-crystallin-encoding genes, mutations in the alpha-crystallin-encoding genes are rare. ..
- Graw J, Jung M, Loster J, Klopp N, Soewarto D, Fella C, et al. Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. Genomics. 1999;62:67-73 pubmed..The mutation will be referred to as Cryba1(po1). This particular mouse mutation provides an excellent animal model for a human congenital zonular cataract with suture opacities, which is caused by a mutation in the homologous gene. ..
- Graw J, Klopp N, Loster J, Soewarto D, Fuchs H, Becker Follmann J, et al. Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts. Genetics. 2001;157:1313-20 pubmed..Therefore, it is concluded that the novel protein destroys the sensitive cellular structure of the eye lens. ..
- Graw J, Neuhäuser Klaus A, Löster J, Favor J. A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. Invest Ophthalmol Vis Sci. 2002;43:236-40 pubmed..The purpose of this study was to establish the linkage of the mutation to a particular chromosome to allow molecular characterization. Moreover, the mutants were examined morphologically...
- Graw J, Loster J, Soewarto D, Fuchs H, Meyer B, Reis A, et al. Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract. Exp Eye Res. 2001;73:867-76 pubmed..Since both mutations affect similar regions in the first extracellular domain this region appears to be critically important for its function in lens transparency. ..
- Graw J, Neuhäuser Klaus A, Löster J, Klopp N, Favor J. Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract. Genetics. 2002;161:1633-40 pubmed..Histological analysis of the cataractous lenses indicated that the expression of the new protein disrupts the cellular structure of the eye lens. ..
- Graw J, Klopp N, Neuhäuser Klaus A, Favor J, Löster J. Crygf(Rop): the first mutation in the Crygf gene causing a unique radial lens opacity. Invest Ophthalmol Vis Sci. 2002;43:2998-3002 pubmed..Crygf(Rop) is the first mutation affecting the Crygf gene. Dominant cataract mutations for all six Cryg genes on mouse chromosome 1 have now been characterized, demonstrating the importance of this gene cluster in lens transparency. ..
- Graw J, Löster J, Soewarto D, Fuchs H, Reis A, Wolf E, et al. V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice. Mamm Genome. 2002;13:452-5 pubmed..5 pH units in the 10 amino acids surrounding position 76. The Crygd(Aey4) additionally demonstrates the importance of the integrity of the Cryg gene cluster for lens transparency. ..
- Graw J, Neuhäuser Klaus A, Klopp N, Selby P, Löster J, Favor J. Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse. Invest Ophthalmol Vis Sci. 2004;45:1202-13 pubmed..The unequal distribution of mutations suggests hot spots in the Cryg genes. The overall high number of mutations in these genes demonstrates their central role in the maintenance of lens transparency. ..
- Graw J, Löster J, Puk O, Münster D, Haubst N, Soewarto D, et al. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters. Invest Ophthalmol Vis Sci. 2005;46:4671-83 pubmed....
- Graw J, Klopp N, Illig T, Preising M, Lorenz B. Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefes Arch Clin Exp Ophthalmol. 2006;244:912-9 pubmed..Nevertheless, this combination is rare and future studies will focus on identifying similar phenotypes. ..
- Graw J, Loster J, Soewarto D, Fuchs H, Reis A, Wolf E, et al. Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse. Invest Ophthalmol Vis Sci. 2001;42:1574-80 pubmed..Because an increasing number of beta- and gamma-crystallin mutations have been reported, a detailed phenotype-genotype correlation will allow a clearer functional understanding of beta- and gamma-crystallins. ..