Journal Article (21)

  1. 1.
    Journal Article
    van Wijk, N. V.; Witte, F.; Feike, A. C.; Schambony, A.; Birchmeier, W.; Mundlos, S.; Stricker, S.: The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling. Biochemical and Biophysical Research Communications 390 (2), pp. 211 - 216 (2009)
  2. 2.
    Journal Article
    Seemann, P.; Brehm, A.; König, J.; Reissner, C.; Stricker, S.; Kuss, P.; Haupt, J.; Renninger, S.; Nickel, J.; Sebald, W. et al.; Groppe, J. C.; Plöger, F.; Schmidt-von Kegler, M.; Walther, M.; Gassner, I.; Rusu, C.; Janecke, A. R.; Dathe, K.; Mundlos, S.: Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genetics 5 (11), p. e1000747 - e1000747 (2009)
  3. 3.
    Journal Article
    Weise, A.; Timmermann, B.; Grabherr, M.; Werber, M.; Heyn, P.; Kosyakova, N.; Liehr, T.; Neitzel, H.; Konrat, K.; Bommer, C. et al.; Dietrich, C.; Rajab, A.; Reinhardt, R.; Mundlos, S.; Lindner, T. H.; Hoffmann, K.: High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics, ejhg.2009.196, pp. 1 - 6 (2009)
  4. 4.
    Journal Article
    Schwarzer, W.; Witte, F.; Rajab, A.; Mundlos, S.; Stricker, S.: A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics 18 (21), pp. 4013 - 4021 (2009)
  5. 5.
    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)
  6. 6.
    Journal Article
    Köhler, S.; Schulz, M. H.; Bauer, S.; Dölken, S.; Ott, C. E.; Mundlos, C.; Horn, D.; Mundlos, S.; Robinson, P. N.: Clinical Diagnostics with Semantic Similarity Searches in Ontologies. The American Journal of Human Genetics 85 (4), pp. 457 - 464 (2009)
  7. 7.
    Journal Article
    Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D. J.; Kornak, U.; Wevers, R. A.: Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochimica et Biophysica Acta - Molecular Basis of Disease 1792, pp. 903 - 914 (2009)
  8. 8.
    Journal Article
    Najm, J.; Horn, D.; Wimplinger, I.; Golden, J. A.; Chizhikov, V. V.; Sudi, J.; Christian, S. L.; Ullmann, R.; Kuechler, A.; Haas, C. A. et al.; Flubacher, A.; Charnas, L. R.; Uyanik, G.; Frank, U.; Klopocki, E.; Dobyns, W. B.; Kutsche, K.: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 40 (9), pp. 1065 - 1067 (2009)
  9. 9.
    Journal Article
    Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.; Shboul, M.; Tham, P.-Y.; Kayserili, H.; Al-Gazali, L. et al.; Shahwan, M.; Brancati, F.; Lee, H.; O'Connor, B. D.; Schmidt-von Kegler, M.; Merriman, B.; Nelson, S. F.; Masri, A.; Alkazaleh, F.; Guerra, D.; Ferrari, P.; Nanda, A.; Rajab, A.; Markie, D.; Gray, M.; Nelson, J.; Grix, A.; Sommer, A.; Savarirayan, R.; Janecke, A. R.; Steichen, E.; Sillence, D.; Haußer, I.; Budde, B.; Nürnberg, G.; Nürnberg, P.; Seemann, P.; Kunkel, D.; Zambruno, G.; Dallapiccola, B.; Schuelke, M.; Robertson, S.; Hamamy, H.; Wollnik, B.; Van Maldergem, L.; Mundlos, S.; Kornak, U.: Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 41, pp. 1016 - 1021 (2009)
  10. 10.
    Journal Article
    Rödelsperger, C.; Köhler, S.; Schulz, M. H.; Manke, T.; Bauer, S.; Robinson, P. N.: Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts. Genomics 94 (5), pp. 308 - 316 (2009)
  11. 11.
    Journal Article
    Kurth, I.; Klopocki, E.; Stricker, S.; van Oosterwijk, J.; Vanek, S.; Altmann, J.; Santos, H. G.; van Harssel, J. J. T.; de Ravel, T.; Wilkie, A. O. M. et al.; Gal, A.; Mundlos, S.: Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics 41 (8), pp. 862 - 863 (2009)
  12. 12.
    Journal Article
    Ott, C.-E.; Bauer, S.; Manke, T.; Ahrens, S.; Rödelsperger, C.; Grünhagen, J.; Kornak, U.; Duda, G.; Mundlos, S.; Robinson, P. N.: Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 24 (7), pp. 1247 - 1262 (2009)
  13. 13.
    Journal Article
    Raile, K.; Klopocki, E.; Holder, M.; Wessel, T.; Galler, A.; Deiss, D.; Müller, D.; Riebel, T.; Horn, D.; Maringa, M. et al.; Weber, J.; Ullmann, R.; Grüters, A.: Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism 94 (7), pp. 2658 - 2664 (2009)
  14. 14.
    Journal Article
    Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D. J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E. C.; Abuelo, D. N. et al.; Adamowicz, M.; Al-Aama, J.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M. T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Türkmen, S.; Tuysuz, B.; Yüksel-Konuk, B.; Mundlos, S.; Van Maldergem, L.; Wevers, R. A.; Urban, Z.: Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 18 (12), pp. 2149 - 2165 (2009)
  15. 15.
    Journal Article
    Schinke, T.; Schilling, A. F.; Baranowsky, A.; Seitz, S.; Marshall, R. P.; Linn, T.; Blaeker, M.; Huebner, A. K.; Schulz, A.; Simon, R. et al.; Gebauer, M.; Priemel, M.; Kornak, U.; Perkovic, S.; Barvencik, F.; Beil, F. T.; Del Fattore, A.; Frattini, A.; Streichert, T.; Pueschel, K.; Villa, A.; Debatin, K.-M.; Rueger, J. M.; Teti, A.; Zustin, J.; Sauter, G.; Amling, M.: Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nature Medicine 15, pp. 674 - 681 (2009)
  16. 16.
    Journal Article
    Türkmen, S.; Guo, G.; Garshasbi, M.; Hoffmann, K.; Alshalah, A. J.; Mischung, C.; Kuss, A.; Humphrey, N.; Mundlos, S.; Robinson, P. N.: CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 5, p. e1000487 - e1000487 (2009)
  17. 17.
    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)
  18. 18.
    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)
  19. 19.
    Journal Article
    Gao, B.; Hu, J.; Stricker, S.; Cheung, M.; Ma, G.; Law, K. F.; Witte, F.; Briscoe, J.; Mundlos, S.; He, L. et al.; Cheah, K. S. E.; Chan, D.: A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature 458 (7242), pp. 1196 - 1200 (2009)
  20. 20.
    Journal Article
    Witte, F.; Dokas, J.; Neuendorf, F.; Mundlos, S.; Stricker, S.: Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expression Patterns 9 (4), pp. 215 - 223 (2009)
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