Kliniken & Institute … Institute Institute of Human… Willkommen Pub. Rappold

Marchini, A., Häcker, B., Marttila, T., Hesse, V., Emons, J., Weiss, B. Karperien, M., Rappold, G.: BNP is a transcriptional target of the short stature homeobox gene SHOX. Hum. Mol. Genet. 113:116-123, 2007.

Sabherwal, N., Bangs, F., Röth, R., Weiss, B., Jantz, K., Hinkel, G.K., Spaich, C., Hauffa, B.P., Kant, S.G., Kapeller, J., Tiecke, E., Tickle, C., Rappold, G.: Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum. Mol. Genet. 16(2):210-222, 2007.

Blaschke, R.J., Hahurij, N.D., Kuijper, S., Just, S., Wisse, L.J., Deissler, K., Maxelon, T., Anastassiadis, K., Spitzer, J., Hardt, S., Schöler, H., Feitsma, H., Rottbauer, W., Blum, M., Meijlink, F., Rappold, G., Gittenberger-de Groot, A.C.: Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development. Circulation 115(14):1830-1838, 2007.

Rappold, G., Blum, W.F. Crowe, B. J., Röth, R., Shavrikova, E.P., Quigley, C., Ross, J.L., Niesler, B.: Genotype – Phenotype Correlations in patients with Short stature: Clinical indicators of SHOX haploinsufficiency. J. Med. Genet. 44:306-313, 2007.

Niesler, B., Röth, R., Wilke, S., Fujimura, F., Stene, M., Fischer, C., Rappold, G.: The novel human SHOX allelic variant database. Hum. Mutat. 28(10):933-8, 2007.

Niesler, B., Walstab, J., Combrink, S., Moeller, D., Kapeller, J., Rietdorf, J., Bönisch, H., Göthert, M., Rappold, G., Bruess, M.: Characterization of the Novel Human Serotonin Receptor Subunits 5-HT3C, 5-HT3D and 5-HT3E modulate 5-HT3 receptor function. Mol. Pharmacol. 72:8-17, 2007.

Yang, Y., Marcello, M., Saffrish, R., Endris, V., Fischer, R., Trendelenburg, M., Sprengel, R., Rappold, G.: MEGAP impedes cell migration via regulating actin, microtubule dynamics and focal contacts formation. Exp. Cell Res. 312:2379-2393, 2006.

Marchini, A., Daeffler, L., Marttila, T., Schneider, K.U., Blaschke, R. J., Schnölzer, M., Rommelaere, J., Rappold, G.: Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. J. Mol. Biol. 355:590-603, 2006.

Schneider, K.U., Marchini, A., Sabherwal, N., Röth, R., Niesler, B., Marttila, T., Blaschke, R.J., Rappold, G.: Alteration of DNA binding, dimerisation and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Léri-Weill dyschondrosteosis. Hum. Mutat. 26:1-9, 2005.

Kirsch, S., Weiß, B., Waterston, B., Eichler, E., Münch, C., Schempp, W., Rappold, G.: Interchromosomal segmental duplications of the pericentromeric region of the human Y chromosome. Genome Res. 15:195-204, 2005.

Marchini, A., Winter, A., Marttila, T., Caldeira, S., Malanchi, I., Blaschke, R.J., Häcker, B., Rao, E., Karperien, M., Wit, J.M., Richter, W., Tommasino, M., Rappold, G.: The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J. Biol. Chem. 279:37103-37104, 2004.

Sabherwal, N., Schneider, K.U., Blaschke, R.J., Marchini, A., Rappold, G.: Impairment of the SHOX nuclear localization signal as a cause for Léri-Weill syndrome. J. Cell Science 117:3041-3048, 2004.

Muncke, N., Jung, Ch., Rüdiger, H.J., Ulmer, H.E., Roeth, R., Hubert, A., Goldmuntz, E., Goodship, J., Schön, K., Rappold, G.A.: Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (dTGA). Circulation 108:2843-2850, 2003.

Niesler, B., Frank, B., Kapeller, J., Rappold, G.A.: Cloning, physical mapping and expression analysis of the human serotonin receptor genes HTR3C, HTR3D and HTR3E. Gene 310:101-111, 2003.

Blaschke, R.J., Töpfer, C., Marchini, A., Steinbeisser, H. Janssen, J.W.G., Rappold, G.A.: Transcriptional and translational regulation of the Léri-Weill and Turner syndrome homeobox gene SHOX. J. Biol. Chem. 278:47820-47826, 2003.

Endris, V., Wogatzky, B., Leimer, U., Bartsch, D., Tariverdian, G., Kirsch, S., Karch, D., Rappold, G.A.: The novel Rho-GTPase activating gene MEGAP has a role in severe mental retardation. PNAS 99:11754-11759, 2002.

Rao, E., Blaschke, R.J., Marchini, A., Niesler, B., Burnett, M., Rappold, G.A.: The Léri-Weill and Turner-Syndrome homeobox gene SHOX is a cell type specific transcriptional activator. Hum. Mol. Genet. 10:3083-91, 2001.

Fukami, M., Kirsch, S., Schiller, S., Richter, A., Franco, B., Muroya, K.,Rao, E., Merker S., Niesler, B., Ballabio, A., Ansorge, W., Ogata, T., Rappold, G.A.: A member of the gene family on Xp22.3, VCX, is deleted in patients with X-linked non-specific mental retardation. Am. J. Hum. Genet. 67:563–573, 2000.

Clement-Jones, M., Schiller, S., Rao, E., Blaschke, R., Zuniga, A. Zeller, R., Robson, S.C., Strachan, T., Lindsay, S., Rappold, G.A.: The short stature homeobox gene SHOX is involved in the skeletal abnormalities in Turner Syndrome. Hum. Mol. Genet. 9: 695-702, 2000.

Lien, S., Szyda, J., Schechinger, B., Rappold, G.A., Arnheim, N: Evidence for heterogeneity in recombination in the human pseudoautosomal region: High resolution analysis by sperm typing and radiation hybrid mapping. Am. J. Hum. Genet. 66:557-66, 2000.

Blaschke, R.J., Monaghan, A.P., Schiller, S., Schechinger, B., Rao, E., Padilla-Nash, H., Ried, T., Rappold G.A.: SHOT, a novel SHOX-related homeobox gene is implicated in craniofacial, brain, heart and limb development. PNAS 95:2406-2411, 1998.

Gründemann, D., Schechinger, B., Rappold, G.A., Schömig, E.: Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter. Nature Neuroscience 1:349-351, 1998.

Ried, K., Rao, E., Schiebel, K., Rappold, G.A.: Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region: Isolation of the novel gene ASMTL. Hum. Mol. Genet. 7:1771-1778, 1998.

Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Moroya, K., Binder, G., Kirsch, S., Winkelmann, M., Heinrich, U., Breuning, M.H., Ranke, M., Rosenthal, A., Ogata, R., Rappold, G.A.: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner Syndrome.  Nature Genet. 16:54-63, 1997.

Schiebel, K., Winkelmann, M., Mertz, A., Xu, X., Page, D.C., Weil, D., Petit, C., Rappold, G.A.: Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y-) XY females. Hum. Mol. Genet. 6:1985-1989, 1997.