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18 results on '"Zahn, Susanne"'

7. Constitutive Activation of Neuregulin/ERBB3 Signaling Pathway in Clear Cell Sarcoma of Soft Tissue1

Author

Schaefer, Karl-Ludwig, Brachwitz, Kristin, Braun, Yvonne, Diallo, Raihanatou, Wai, Daniel H., Zahn, Susanne, Schneider, Dominik T, Kuhnen, Cornelius, Vollmann, Arabel, Brockhoff, Gero, Gabbert, Helmut E., and Poremba, Christopher

Subjects
Receptor, ErbB-3, Neuregulin-1, Oligonucleotides, Nucleic Acid Hybridization, Soft Tissue Neoplasms, Gene Expression Regulation, Neoplastic, Kinetics, Pyrimidines, Cell Line, Tumor, mental disorders, Humans, Sarcoma, Clear Cell, Phosphorylation, Alleles, Research Article, Oligonucleotide Array Sequence Analysis, Signal Transduction
Abstract

Clear cell sarcoma of soft tissue (CCSST) represents a highly malignant tumor of the musculoskeletal system that is characterized by the chromosomal translocation t(12;22)(q13;q12) of the Ewing sarcoma gene (EWSR1) and activating transcription factor 1 (ATF1). In a former microarray expression study, we identified ERBB3, a member of the epidermal growth factor receptor (EGFR) family, as a promising new diagnostic marker in the differential diagnosis of CCSST. Here we show that, besides ErbB3, all CCSST cell lines (n = 8) also express the ErbB2 receptor or the ErbB4 receptor, representing an adequate coreceptor of ErbB3. The phosphorylation status of ErbB3 revealed these receptor pairs to be either constitutively activated in CCSST cells with high neuregulin-1 (NRG1) expression (n = 4) or activatable by exogenic NRG1 in cells showing low amounts of NRG1 mRNA (n = 4). Exogenous NRG1 stimulated the growth of a subset of CCSST cells but did not affect the kinetics of another subset. This difference was not strictly dependent on endogenous NRG1 expression; however, the growth-inhibiting effect of the pan-ErbB tyrosine kinase inhibitor CI-1033 or PD158780 clearly correlated with NRG1 expression indicating an autocrine growth stimulation loop, which may constitute an interesting target of new therapeutic strategies in this tumor entity.

Published
2006

9. Imbalances of chromosome arm 1p in pediatric and adult germ cell tumors are caused by true allelic loss: A combined comparative genomic hybridization and microsatellite analysis

Author

Zahn, Susanne, primary, Sievers, Sonja, additional, Alemazkour, Katayoun, additional, Orb, Sandra, additional, Harms, Dieter, additional, Schulz, Wolfgang A., additional, Calaminus, Gabriele, additional, Göbel, Ulrich, additional, and Schneider, Dominik T., additional

Published
2006
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10. Constitutive Activation of Neuregulin/ERBB3 Signaling Pathway in Clear Cell Sarcoma of Soft Tissue

Author

Schaefer, Karl-Ludwig, primary, Brachwitz, Kristin, additional, Braun, Yvonne, additional, Diallo, Raihanatou, additional, Wai, Daniel H., additional, Zahn, Susanne, additional, Schneider, Dominik T., additional, Kuhnen, Cornelius, additional, Vollmann, Arabel, additional, Brockhoff, Gero, additional, Gabbert, Helmut E., additional, and Poremba, Christopher, additional

Published
2006
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11. P49: Identification of recurrent chromosomal aberrations in different types of human germ cell tumours using array CGH

Author

Veltman, Imke, primary, Kersemaekers, Anne-Marie, additional, Veltman, Joris, additional, Janssen, Irene, additional, van de Kaa, Christina Hulsbergen, additional, Oosterhuis, Wolter, additional, Schneider, Dominik, additional, Stoop, Hans, additional, Gillis, Ad, additional, Zahn, Susanne, additional, Göbel, Ulrich, additional, Geurts van Kessel, Ad, additional, and Looijenga, Leendert, additional

Published
2005
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12. Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array‐based comparative genomic hybridization

Author

Veltman, Imke, primary, Veltman, Joris, additional, Janssen, Irene, additional, Hulsbergen‐van de Kaa, Christina, additional, Oosterhuis, Wolter, additional, Schneider, Dominik, additional, Stoop, Hans, additional, Gillis, Ad, additional, Zahn, Susanne, additional, Looijenga, Leendert, additional, Göbel, Ulrich, additional, and van Kessel, Ad Geurts, additional

Published
2005
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13. IGF2/H19 imprinting analysis of human germ cell tumors (GCTs) using the methylation-sensitive single-nucleotide primer extension method reflects the origin of GCTs in different stages of primordial germ cell development

Author

Sievers, Sonja, primary, Alemazkour, Katayoun, additional, Zahn, Susanne, additional, Perlman, Elizabeth J., additional, Gillis, Ad J. M., additional, Looijenga, Leendert H. J., additional, Göbel, Ulrich, additional, and Schneider, Dominik T., additional

Published
2005
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14. Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation

Author

Engels, Hartmut, primary, Ehrbrecht, Antje, additional, Zahn, Susanne, additional, Bosse, Kristin, additional, Vrolijk, Hans, additional, White, Stefan, additional, Kalscheuer, Vera, additional, Hoovers, Jan M N, additional, Schwanitz, Gesa, additional, Propping, Peter, additional, Tanke, Hans J, additional, Wiegant, Joop, additional, and Raap, Anton K, additional

Published
2003
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15. Homozygous mutations in caveolin‐3 cause a severe form of rippling muscle disease

Author

Kubisch, Christian, primary, Schoser, Benedikt G. H., additional, Düring, Monika v., additional, Betz, Regina C., additional, Goebel, Hans‐Hilmar, additional, Zahn, Susanne, additional, Ehrbrecht, Antje, additional, Aasly, Jan, additional, Schroers, Anja, additional, Popovic, Nikola, additional, Lochmüller, Hanns, additional, Schröder, J. Michael, additional, Brüning, Thomas, additional, Malin, Jean‐Pierre, additional, Fricke, Britta, additional, Meinck, Hans‐Michael, additional, Torbergsen, Torberg, additional, Engels, Hartmut, additional, Voss, Bruno, additional, and Vorgerd, Matthias, additional

Published
2003
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17. Homozygous mutations in caveolin‐3cause a severe form of rippling muscle disease

Author

Kubisch, Christian, Schoser, Benedikt G. H., Düring, Monika v., Betz, Regina C., Goebel, Hans‐Hilmar, Zahn, Susanne, Ehrbrecht, Antje, Aasly, Jan, Schroers, Anja, Popovic, Nikola, Lochmüller, Hanns, Schröder, J. Michael, Brüning, Thomas, Malin, Jean‐Pierre, Fricke, Britta, Meinck, Hans‐Michael, Torbergsen, Torberg, Engels, Hartmut, Voss, Bruno, and Vorgerd, Matthias

Abstract

Heterozygous missense mutations in the caveolin‐3 gene (CAV3) cause different muscle disorders. Most patients with CAV3alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3mutations underlie the progressive limb‐girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3. Both presented with a more severe clinical phenotype than usually seen in RMD. Immunohistochemical and immunoblot analyses of muscle biopsies showed a strong reduction of caveolin‐3 in both homozygous RMD patients similar to the findings in heterozygous RMD. Electron microscopy studies showed a nearly complete absence of caveolae in the sarcolemma in all RMD patients analyzed. Additional plasma membrane irregularities (small plasmalemmal discontinuities, subsarcolemmal vacuoles, abnormal papillary projections) were more pronounced in homozygous than in heterozygous RMD patients. A stronger activation of nitric oxide synthase was observed in both homozygous patients compared with heterozygous RMD. Like in LGMD1C, dysferlin immunoreactivity is reduced in RMD but more pronounced in homozygous as compared with heterozygous RMD. Thus, we further extend the phenotypic variability of muscle caveolinopathies by identification of a severe form of RMD associated with homozygous CAV3mutations. Ann Neurol 2003

Published
2003
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18. Homozygous mutations in <TOGGLE>caveolin-3</TOGGLE> cause a severe form of rippling muscle disease

Author

Kubisch, Christian, Schoser, Benedikt G. H., Düring, Monika v., Betz, Regina C., Goebel, Hans-Hilmar, Zahn, Susanne, Ehrbrecht, Antje, Aasly, Jan, Schroers, Anja, Popovic, Nikola, Lochmüller, Hanns, Schröder, J. Michael, Brüning, Thomas, Malin, Jean-Pierre, Fricke, Britta, Meinck, Hans-Michael, Torbergsen, Torberg, Engels, Hartmut, Voss, Bruno, and Vorgerd, Matthias

Abstract

Heterozygous missense mutations in the caveolin-3 gene (CAV3) cause different muscle disorders. Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3. Both presented with a more severe clinical phenotype than usually seen in RMD. Immunohistochemical and immunoblot analyses of muscle biopsies showed a strong reduction of caveolin-3 in both homozygous RMD patients similar to the findings in heterozygous RMD. Electron microscopy studies showed a nearly complete absence of caveolae in the sarcolemma in all RMD patients analyzed. Additional plasma membrane irregularities (small plasmalemmal discontinuities, subsarcolemmal vacuoles, abnormal papillary projections) were more pronounced in homozygous than in heterozygous RMD patients. A stronger activation of nitric oxide synthase was observed in both homozygous patients compared with heterozygous RMD. Like in LGMD1C, dysferlin immunoreactivity is reduced in RMD but more pronounced in homozygous as compared with heterozygous RMD. Thus, we further extend the phenotypic variability of muscle caveolinopathies by identification of a severe form of RMD associated with homozygous CAV3 mutations. Ann Neurol 2003

Published
2003
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