Max Planck Institute for Molecular Genetics

Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (21)

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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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)

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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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