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Journal Article (21)

  1. 1.
    Journal Article
    Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), pp. 1870 - 1873 (2015)
  2. 2.
    Journal Article
    Kolanczyk, M.; Krawitz, P.; Hecht, J.; Hupalowska, A.; Miaczynska, M.; Marschner, K.; Schlack, C.; Emerich, D.; Kobus, K.; Kornak, U. et al.; Robinson, P. N.; Plecko, B.; Grangl, G.; Uhrig, S.; Mundlos, S.; Horn, D.: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European journal of human genetics 23, 720 (2015)
  3. 3.
    Journal Article
    Kühnisch, J.; Seto, J.; Lange, C.; Stumpp, S.; Kobus, K.; Grohmann, J.; Elefteriou, F.; Fratzl, P.; Mundlos, S.; Kolanczyk, M.: Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models. Bone 66, pp. 155 - 162 (2014)
  4. 4.
    Journal Article
    Kühnisch, J.; Seto, J.; Lange, C.; Schrof, S.; Stumpp, S.; Kobus, K.; Grohmann, J.; Kossler, N.; Varga, P.; Oßwald, M. et al.; Emmerich, D.; Tinschert, S.; Thielemann, F.; Duda, G.; Seifert, W.; El Khassawna, T.; Stevenson, D. A.; Elefteriou, F.; Kornak, U.; Raum, K.; Fratzl, P.; Mundlos, S.; Kolanczyk, M.: Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. PLoS One 9 (1) (2014)
  5. 5.
    Journal Article
    El Khassawna, T.; Toben, D.; Kolanczyk, M.; Schmidt-Bleek, K.; Koennecke, I.; Schell, H.; Mundlos, S.; Duda, G. N.: Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia. Bone 51 (4), pp. 651 - 660 (2012)
  6. 6.
    Journal Article
    Kolanczyk, M.; Pech, M.; Zemojte, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.-A.; van den Brand, M.; Richter, R.; Fischer, B.; Ritz, A. et al.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R. N.; Nijtmans, L.; Schuelke, M.; Nierhaus, K. H.; Mundlos, S.: NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell 22 (1), pp. 1 - 11 (2011)
  7. 7.
    Journal Article
    Kolanczyk, M.; Mautner, V.; Kossler, N.; Nguyen, R.; Kuhnisch, J.; Zemojtel, T.; Jamsheer, A.; Wegener, E.; Thurisch, B.; Tinschert, S. et al.; Holtkamp, N.; Park, S. J.; Birch, P.; Kendler, D.; Harder, A.; Mundlos, S.; Kluwe, L.: MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med 9, p. 82 (2011)
  8. 8.
    Journal Article
    Kossler, N.; Stricker, S.; Rodelsperger, C.; Robinson, P. N.; Kim, J.; Dietrich, C.; Osswald, M.; Kuhnisch, J.; Stevenson, D. A.; Braun, T. et al.; Mundlos, S.; Kolanczyk, M.: Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20 (14), pp. 2697 - 709 (2011)
  9. 9.
    Journal Article
    Lange, C.; Li, C.; Manjubala, I.; Wagermaier, W.; Kuhnisch, J.; Kolanczyk, M.; Mundlos, S.; Knaus, P.; Fratzl, P.: Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. J Struct Biol 176 (2), pp. 159 - 67 (2011)
  10. 10.
    Journal Article
    Rodelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Kohler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.: Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res 39 (7), pp. 2492 - 502 (2011)
  11. 11.
    Journal Article
    Rödelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Köhler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.: Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Research 24 (2), pp. 1 - 11 (2010)
  12. 12.
    Journal Article
    Elefteriou, F.; Kolanczyk, M.; Schindeler, A.; Viskochil, D. H.; Hock, J. M.; Schorry, E. K.; Crawford, A. H.; Friedman, J. M.; Little, D.; Peltonen, J. et al.; Carey, J. C.; Feldman, D.; Yu, X.; Armstrong, L.; Birch, P.; Kendler, D. L.; Mundlos, S.; Yang, F.-C.; Agiostratidou, G.; Hunter-Schaedle, K.; Stevenson, D. A.: Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics Part A 149A (10), pp. 2327 - 2338 (2009)
  13. 13.
    Journal Article
    Jürgens, A. S.; Kolanczyk, M.; Moebest, D. C. C.; Zemojtel, T.; Lichtenauer, U.; Duchniewicz, M.; Gantert, M. P.; Hecht, J.; Hattenhorst, U.; Burdach, S. et al.; Dorn, A.; Kamps, M. P.; Beuschlein, F.; Räpple, D.; Scheele, J. S.: PBX1 is dispensable for neural commitment of RA-treated murine ES cells. In Vitro Cellular & Developmental Biology - Animal 45 (5-6), pp. 252 - 263 (2009)
  14. 14.
    Journal Article
    Scheele, J. S.; Kolanczyk, M.; Gantert, M.; Zemojtel, T.; Dorn, A.; Sykes, D. B.; Möbest, D. C. C.; Kamps, M. P.; Räpple, D.: The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1. Leukemia & Lymphoma 50 (5), pp. 816 - 828 (2009)
  15. 15.
    Journal Article
    Kolanczyk, M.; Kühnisch, J.; Kossler, N.; Osswald, M.; Stumpp, S.; Thurisch, B.; Kornak, U.; Mundlos, S.: Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Medicine 31 (6), p. 21 - 21 (2008)
  16. 16.
    Journal Article
    Kolanczyk, M.; Kossler, N.; Kühnisch, J.; Lavitas, L.; Stricker, S.; Wilkening, U.; Manjubala, I.; Fratzl, P.; Spörle, R.; Herrmann, B. G. et al.; Parada, L. F.; Kornak, U.; Mundlos, S.: Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics 16 (8), pp. 232 - 240 (2007)
  17. 17.
    Journal Article
    Lichtenauer, U. D.; Duchniewicz, M.; Kolanczyk, M.; Hoeflich, A.; Hahner, S.; Else, T.; Bicknell, A. B.; Zemojtel, T.; Stallings, N. R.; Schulte, D. M. et al.; Kamps, M. P.; Hammer, G. D.; Scheele, J. S.; Beuschlein, F.: Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis. Endocrinology: Official Journal of the Endocrine Society 148 (2), pp. 693 - 704 (2007)
  18. 18.
    Journal Article
    Lichtenauer, U. D.; Duchniewicz, M.; Kolanczyk, M.; Hoeflich, A.; Hahner, S.; Else, T.; Bicknell, A. B.; Zemojtel, T.; Stallings, N. R.; Schulte, D. M. et al.; Kamps, M. P.; Hammer, G. D.; Scheele, J. S.; Beuschlein, F.: Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis. Endocrinology: Official Journal of the Endocrine Society 148 (2), pp. 693 - 704 (2007)
  19. 19.
    Journal Article
    Zemojtel, T.; Fröhlich, A.; Palmieri, M. C.; Kolanczyk, M.; Mikula, I.; Wyrwicz, L. S.; Wanker, E. E.; Mundlos, S.; Vingron, M.; Martasek, P. et al.; Durner, J.: Plant nitric oxide synthase: a never-ending story? Trends in Plant Science 11 (11), pp. 524 - 525 (2006)
  20. 20.
    Journal Article
    Zemojtel, T.; Kolanczyk, M.; Kossler, N.; Stricker, S.; Lurz, R.; Mikula, I.; Duchniewicz, M.; Schuelke, M.; Ghafourifar, P.; Martasek, P. et al.; Vingron, M.; Mundlos, S.: Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. FEBS Letters 580 (2), pp. 455 - 462 (2006)
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