Research ExplorerResearch UnitsInstitute of Human Genetics Publications

Institute of Human Genetics

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Publications

  1. 2005

  2. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

    Schaefer, E., Mehta, A. & Gal, A., 2005, In: Acta Paediatr Suppl. 94, 447, p. 79-87 447.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

    Santer, R., Gokçay, G., Demirkol, M., Gal, A. & Lukacs, Z., 2005, In: J INHERIT METAB DIS. 28, 2, p. 137-140 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Identification of WIN55212-3 as a competitive neutral antagonist of the human cannabinoid CB2 receptor.

    Savinainen, J. R., Kokkola, T., Salo, O. M. H., Poso, A., Järvinen, T. & Laitinen, J. T., 2005, In: BRIT J PHARMACOL. 145, 5, p. 636-645 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.

    Hübner, C. A., Senning, A., Orth, U., Zerres, K., Urbach, H., Gal, A. & Rudnik-Schöneborn, S., 2005, In: NEUROSCIENCE. 132, 3, p. 697-701 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Mucopolysaccharidosis type II in females: case report and review of literature.

    Tuschl, K., Gal, A., Paschke, E., Kircher, S. & Bodamer, O. A., 2005, In: PEDIATR NEUROL. 32, 4, p. 270-272 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Novel mutations and repeated findings of mutations in familial Alzheimer disease.

    Finckh, U., Kuschel, C., Anagnostouli, M., Patsouris, E., Pantes, G. V., Gatzonis, S., Kapaki, E., Davaki, P., Lamszus, K., Stavrou, D. & Gal, A., 2005, In: NEUROGENETICS. 6, 2, p. 85-89 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Pediatric Fabry disease.

    Ries, M., Gupta, S., Moore, D. F., Sachdev, V., Quirk, J. M., Murray, G. J., Rosing, D. R., Robinson, C., Schaefer, E., Gal, A., Dambrosia, J. M., Garman, S. C., Brady, R. O. & Schiffmann, R., 2005, In: PEDIATRICS. 115, 3, p. 344-355 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

    Bolz, H., Ebermann, I. & Gal, A., 2005, In: MOL VIS. 11, p. 929-933

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.

    Harendza, S., Hübner, C. A., Gläser, C., Burdelski, M., Thaiss, F., Hansmann, I., Gal, A. & Stahl, R. A. K., 2005, In: J NEPHROL. 18, 3, p. 312-317 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

    Thompson, D. A., Janecke, A. R., Lange, J., Feathers, K. L., Hübner, C. A., McHenry, C. L., Stockton, D. W., Rammesmayer, G., Lupski, J. R., Antinolo, G., Ayuso, C., Baiget, M., Gouras, P., Heckenlively, J. R., den Hollander, A., Jacobson, S. G., Lewis, R. A., Sieving, P. A., Wissinger, B., Yzer, S., Zrenner, E., Utermann, G. & Gal, A., 2005, In: HUM MOL GENET. 14, 24, p. 3865-3875 24.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

    Hübner, C. A., Orth, U., Senning, A., Steglich, C., Kohlschütter, A., Korinthenberg, R. & Gal, A., 2005, In: HUM MUTAT. 25, 3, p. 321-322 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. S-nitrosothiols modulate G protein-coupled receptor signaling in a reversible and highly receptor-specific manner.

    Kokkola, T., Savinainen, J. R., Mönkkönen, K. S., Retamal, M. D. & Laitinen, J. T., 2005, In: BMC CELL BIOL. 6, 1, p. 21 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. The functional role of cysteines adjacent to the NRY motif of the human MT1 melatonin receptor.

    Kokkola, T., Salo, O. M. H., Poso, A. & Laitinen, J. T., 2005, In: J PINEAL RES. 39, 1, p. 1-11 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

    Schäfer, E., Baron, K., Widmer, U., Deegan, P., Neumann, H. P. H., Sunder-Plassmann, G., Johansson, J-O., Whybra, C., Ries, M., Pastores, G. M., Mehta, A., Beck, M. & Gal, A., 2005, In: HUM MUTAT. 25, 4, p. 412 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler).

    Grigull, L., Beilken, A., Schrappe, M., Das, A., Luecke, T., Sander, A., Stanulla, M., Rehe, K., Sauer, M., Schmid, H., Welte, K., Lukacs, Z., Gal, A. & Sykora, K. W., 2005, In: BONE MARROW TRANSPL. 35, 3, p. 265-269 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. 2004

  18. Subcellular localisation of Cdc25A determines cell fate

    Leisser, C., Rosenberger, G., Maier, S., Fuhrmann, G., Grusch, M., Strasser, S., Huettenbrenner, S., Fassl, S., Polgar, D., Krieger, S., Cerni, C., Hofer-Warbinek, R., deMartin, R. & Krupitza, G., 01.01.2004, In: CELL DEATH DIFFER. 11, 1, p. 80-9 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. A novel member of the GCN5-related N-acetyltransferase superfamily from Caenorhabditis elegans preferentially catalyses the N-acetylation of thialysine [S-(2-aminoethyl)-L-cysteine].

    Abo-Dalo, B., Ndjonka, D., Pinnen, F., Liebau, E. & Lüersen, K., 2004, In: BIOCHEM J. 384, 1, p. 129-137 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Expression of the sodium-driven chloride bicarbonate exchanger NCBE during prenatal mouse development.

    Hübner, C. A., Hentschke, M., Jacobs, S. & Hermans-Borgmeyer, I., 2004, In: GENE EXPR PATTERNS. 5, 2, p. 219-223 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. 2003

  22. Transferrin ensures survival of ovarian carcinoma cells when apoptosis is induced by TNFalpha, FasL, TRAIL, or Myc

    Fassl, S., Leisser, C., Huettenbrenner, S., Maier, S., Rosenberger, G., Strasser, S., Grusch, M., Fuhrmann, G., Leuhuber, K., Polgar, D., Stani, J., Tichy, B., Nowotny, C. & Krupitza, G., 13.11.2003, In: ONCOGENE. 22, 51, p. 8343-55 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions

    Stefanova, M., Atanassov, D., Krastev, T., Fuchs, S. & Kutsche, K., 15.03.2003, In: AM J MED GENET A. 117A, 3, p. 289-94 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

    Rosenberger, G., Jantke, I., Gal, A. & Kutsche, K., 15.01.2003, In: HUM MOL GENET. 12, 2, p. 155-67 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. Characterization of calmodulin binding to the orphan nuclear receptor Errgamma.

    Hentschke, M., Schulze, C., Süsens, U. & Borgmeyer, U., 2003, In: BIOL CHEM. 384, 3, p. 473-482 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Identification of PNRC2 and TLE1 as activation function-1 cofactors of the orphan nuclear receptor ERRgamma.

    Hentschke, M. & Borgmeyer, U., 2003, In: BIOCHEM BIOPH RES CO. 312, 4, p. 975-982 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Important amino acids for the function of the human MT1 melatonin receptor.

    Kokkola, T., Foord, S. M., Watson, M-A., Vakkuri, O. & Laitinen, J. T., 2003, In: BIOCHEM PHARMACOL. 65, 9, p. 1463-1471 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. 2002

  29. Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons

    Michelson, P., Hartwig, C., Schachner, M., Gal, A., Veske, A., Finckh, U. & Petersen, C., 12.2002, In: HUM MUTAT. 20, 6, p. 481-2 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Domains of ERRgamma that mediate homodimerization and interaction with factors stimulating DNA binding.

    Hentschke, M., Süsens, U. & Borgmeyer, U., 2002, In: EUR J BIOCHEM. 269, 16, p. 4086-4097 16.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. PGC-1 and PERC, coactivators of the estrogen receptor-related receptor gamma.

    Hentschke, M., Süsens, U. & Borgmeyer, U., 2002, In: BIOCHEM BIOPH RES CO. 299, 5, p. 872-879 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. 2001

  33. Cdc25A phosphatase suppresses apoptosis induced by serum deprivation

    Fuhrmann, G., Leisser, C., Rosenberger, G., Grusch, M., Huettenbrenner, S., Halama, T., Mosberger, I., Sasgary, S., Cerni, C. & Krupitza, G., 27.07.2001, In: ONCOGENE. 20, 33, p. 4542-53 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Activation of caspases and induction of apoptosis by novel ribonucleotide reductase inhibitors amidox and didox

    Grusch, M., Fritzer-Szekeres, M., Fuhrmann, G., Rosenberger, G., Luxbacher, C., Elford, H. L., Smid, K., Peters, G. J., Szekeres, T. & Krupitza, G., 01.05.2001, In: Experimental hematology. 29, 5, p. 623-32 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. 2000

  36. The ribonucleotide reductase inhibitor trimidox induces c-myc and apoptosis of human ovarian carcinoma cells

    Rosenberger, G., Fuhrmann, G., Grusch, M., Fassl, S., Elford, H. L., Smid, K., Peters, G. J., Szekeres, T. & Krupitza, G., 17.11.2000, In: LIFE SCI. 67, 26, p. 3131-42 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Elevated C-reactive protein levels and impaired endothelial vasoreactivity in patients with coronary artery disease

    Fichtlscherer, S., Rosenberger, G., Walter, D. H., Breuer, S., Dimmeler, S. & Zeiher, A. M., 29.08.2000, In: CIRCULATION. 102, 9, p. 1000-6 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. 1999

  39. The MYC dualism in growth and death

    Fuhrmann, G., Rosenberger, G., Grusch, M., Klein, N., Hofmann, J. & Krupitza, G., 01.11.1999, In: MUTAT RES-FUND MOL M. 437, 3, p. 205-17 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Benzamide riboside induces apoptosis independent of Cdc25A expression in human ovarian carcinoma N.1 cells

    Grusch, M., Rosenberger, G., Fuhrmann, G., Braun, K., Titscher, B., Szekeres, T., Fritzer-Skekeres, M., Oberhuber, G., Krohn, K., Hengstschlaeger, M., Krupitza, G. & Jayaram, H. N., 01.08.1999, In: CELL DEATH DIFFER. 6, 8, p. 736-44 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. 1998

  42. Melatonin receptor genes.

    Kokkola, T. & Laitinen, J. T., 1998, In: ANN MED. 30, 1, p. 88-94 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Mutagenesis of human Mel1a melatonin receptor expressed in yeast reveals domains important for receptor function.

    Kokkola, T., Watson, M. A., White, J., Dowell, S., Foord, S. M. & Laitinen, J. T., 1998, In: BIOCHEM BIOPH RES CO. 249, 2, p. 531-536 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. 1996

  45. A rhodopsin-based model for melatonin recognition at its G protein-coupled receptor.

    Navajas, C., Kokkola, T., Poso, A., Honka, N., Gynther, J. & Laitinen, J. T., 1996, In: EUR J PHARMACOL. 304, 1-3, p. 173-183 1-3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. Mechanism by which 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) reduces circulating melatonin levels in the rat.

    Pohjanvirta, R., Laitinen, J. T., Vakkuri, O., Lindén, J., Kokkola, T., Unkila, M. & Tuomisto, J., 1996, In: TOXICOLOGY. 107, 2, p. 85-97 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. 1995

  48. Cholinergic signaling in the rat pineal gland.

    Laitinen, J. T., Laitinen, K. S. & Kokkola, T., 1995, In: CELL MOL NEUROBIOL. 15, 2, p. 177-192 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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