[ Bernd Wissinger | Lebenslauf | Publikationen | Stand der Forschung ]

ausgewählte Originalarbeiten

Hiesel, R., Wissinger, B., Schuster, W., Brennicke, A. (1989) RNA editing in plant mitochondria. Science 246: 1632-1634.

Wissinger, B., Schuster, W., Brennicke, A. (1991) Trans-splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans splicing group II intron sequences. Cell 65: 473-482.

Wissinger, B., Schuster, W., Brennicke, A. (1992) Regenerating good sense: RNA editing and trans-splicing in plant mitochondria. Trends Genet 8: 322-328.

Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E., Leo-Kottler, B. (1997) Mutation analysis of the ND6 gene in patients with Leber`s hereditary optic neuropathy. Biochem Biophys Res Commun 234: 511-515.

Wissinger, B., Müller, F., Weyand, I, Schuffenhauer, S., Thanos, S., Kaupp, U.B. , Zrenner, E. (1997) Cloning and functional characterization of the gene encoding the cGMP gated cation channel in human cone photoreceptors. Eur J Neurosci 9: 2512-2521.

Wolf, S., Sharpe, L.T., Knau, H. , Wissinger, B. (1998) Numbers and Ratios of X-chromosomal-linked opsin genes. Vision Res 38: 3227-3231.

Wissinger, B., Jägle, H., Kohl, S., Broghammer, M., Baumann, B., Apfelstedt-Sylla, E., Hanna, D., Hedels, C., Randazzo, G., Jacobsen, S., Zrenner, E., Sharpe, L.T. (1998) Human rod monochromacy: Linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics 51: 325-331.

Kohl, S., Marx, T., Giddings, I., Jägle, H., Jacobson, S., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., Wissinger, B. (1998) Total color blindness is caused by mutations in the gene encoding the a-subunit of the cone photoreceptor cGMP gated cation channel. Nature Genetics 19: 257-259.

Wolf, S., Sharpe, L.T., Schmidt, H.-J., Knau, H., Weitz, S., Kioschis, P., Poustka, A., Zrenner, E., Lichter, P. , Wissinger, B. (1999) Visual resolution of the copy number in the human photopigment gene array. Invest Ophthalmol Vis Sci 40: 1585-1589.

Kohl, S., Baumann, B., Broghammer, M., Jägle, H., Sieving, P., Kellner, U., Spegal, R., Anastasi, M., Zrenner, E., Sharpe, L.T., Wissinger, B. (2000) Mutations in the CNGB3 gene encoding the b-subunit of the cone photoreceptor cGMP gated channel are responsible for Achromatopsia (ACHM3) linked to chromosome 8q21 Human Molecular Genetics 9: 2107-2116.

Alexander, C., Votruba, M., Pesch, U., Thiselton, D., Mayer, S., Moore, T., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S., Wissinger, B. (2000) OPA1, a gene encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature Genetics 26: 211-215.

Pusch, C, Zeitz, C., Brandau, O., Pesch, K., Achatz, H., Feil, S., Scharfe, C., Maurer, J., Jacobi, F.A., Pinckers, A., Andreasson, S., Hardcastle, A., Wissinger, B., Berger, W., Meindl, A. (2000) The complete form of CSNB is caused by mutations in a gene encoding a leucine rich repeat protein.
Nature Genetics 26: 324-327.

Jägle. H., Kohl, S., Apfelstedt-Sylla, E., Wissinger, B., Sharpe, L.T. (2001) Manifestation of rod monochromacy. Color Research and Application 12: 96-99.

Jacobi, F.K., Leo-Kottler, B., Mittelviefhaus, K., Zrenner, E., Meyer, J., Pusch, C.M, Wissinger, B. (2001) Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 42: 1208-1214.

Pesch, U.E.A, Leo-Kottler, B., Mayer, S., Jurklies, B., Kellner, U., Apfelstedt-Sylla, E., Zrenner, E., Wissinger, B. (2001) OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 10: 1359-1368.

Scholl, H.P.N., Kremers, J., Wissinger, B. (2001) Macular dystrophy with protan geno- and phenotype studied with cone type specific ERGs. Current Eye Research 22: 221-228.

Wissinger, B., Gamer, D., Jägle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S.G., Sener, E.C., Tatlipinar, S., Hoyng, C., Castellan, C., Bitoun, P., Andreasson, S., Rudolph, G., Kellner, U., Lorenz, B., Wolff, G., Verellen-Dumoulin, C., Schwartz, M., Cremers, F.P.M., Apfelstedt-Sylla, E., Zrenner, E., Salati, R., Sharpe, L.T., Kohl, S. (2001) CNGA3 mutations in cone photoreceptor disorders. Am J Hum Genet 69: 722-737.

Dietrich, K., Jacobi, F., Tippmann, S., Schmid, R., Zrenner, E., Wissinger, B., Apfelstedt-Sylla, E. (2002) A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant Retinitis pigmentosa. Br J Ophthalmol 86(3):328-332.

Kohl, S., Baumann, B., Rosenberg, T., Kellner, U., Lorenz, B., Vadala, M., Jacobson, S.G., Wissinger, B. (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 71: 422-425.

Knau, H., Kremers, J., Schmidt, H.J., Wolf, S., Wissinger, B., Sharpe, L.T. (2002) M-cone opsin gene number does not correlate with variation in L/M-cone sensitivity. Vision Res. 42(15):1888-1896.

Eksandh, L., Kohl, S., Wissinger, B. (2002) Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genetics 23: 109-120.

Pesch, K., Zeitz, C., Fries, J., Münscher, S., Pusch, C.M., Kohler, K., Berger, W., Wissinger, B. (2003) Isolation of the mouse nyctalopin gene (mNyx) and expression studies in mouse and rat retina. Invest Ophthalmol Vis Sci 44(5):2260-2266.

Tränkner, D., Jägle, H, Kohl, S., Apfelstedt-Sylla, E., Sharpe, L.T., Kaupp, U.B., Zrenner, E., Seifert, R., Wissinger, B. (2004) Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci 24: 138-147.

Janecke, A.R., Thompson,, D.A., Utermann, G., Becker C., Hübner, C.A., Schmid, E., McHenry, C.L., Nair, A.R., Rüschendorf, F., Heckenlively, J., Wissinger, B., Nürnberg, P., Gal, A. (2004) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy. Nature Genetics 36: 850-854.

Kellner, U., Wissinger, B., Kohl, S., Kraus, H., Foerster, M.H. (2004) Molekulargenetische Ergebnisse bei Patienten mit kongenitalen Zapfenfunktionsstörungen: Mutationen in den Genen CNGA3, CNGB3 und GNAT2. Ophthalmologe 101: 830-835.

Kellner, U.*, Wissinger, B.*, Tippmann, S., Kohl, S., Kraus, H., Foerster, M.H. (2004) Blue coner monochromatism: Clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol 242: 729-735, *equally first authors

Wright, A.F,, Reddick, A., Schwartz, S., Ferguson, J.S., Aleman, T.S., Kellner, U., Jurklies, B., Schuster, A., Zrenner, E., Wissinger, B., Lennon, A., Shu, A.V., Cideciyan, A.V., Stone, E.M., Jacobson, S.G., Swaroop, A. (2004) NR2E3 and NRL analyses in Enhanced S-Cone syndrome reveal novel mutations and an unusual phenotype. Hum Mutation 24: 439. [Epub ahead of print]

Kohl S, Varsanyi B, Abadin Antunes G, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FPM, Wissinger B. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (in press)