Publications of S. Mundlos

Ott, C. E.; Leschik, G.; Trotier, F.; Brueton, L.; Brunner, H. G.; Brussel, W.; Guillen-Navarro, E.; Haase, C.; Kohlhase, J.; Kotzot, D. et al.; Lane, A.; Lee-Kirsch, M. A.; Morlot, S.; Simon, M. E.; Steichen-Gersdorf, E.; Tegay, D. H.; Peters, H.; Mundlos, S.; Klopocki, E.: Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation 31 (8), pp. E1587 - 93 (2010)

Villavicencio-Lorini, P.; Kuss, P.; Friedrich, J.; Haupt, J.; Farooq, M.; Turkmen, S.; Duboule, D.; Hecht, J.; Mundlos, S.: Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. Journal of Clinical Investigation 120 (6), pp. 1994 - 2004 (2010)

Clayton, P.; Fischer, B.; Mann, A.; Mansour, S.; Rossier, E.; Veen, M.; Lang, C.; Baasanjav, S.; Kieslich, M.; Brossuleit, K. et al.; Gravemann, S.; Schnipper, N.; Karbasyian, M.; Demuth, I.; Zwerger, M.; Vaya, A.; Utermann, G.; Mundlos, S.; Stricker, S.; Sperling, K.; Hoffmann, K.: Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus 1 (4), pp. 354 - 366 (2010)

Robinson, P. N.; Mundlos, S.: The human phenotype ontology. Clinical Genetics 77 (6), pp. 525 - 534 (2010)

Ratzka, A.; Mundlos, S.; Vortkamp, A.: Expression patterns of sulfatase genes in the developing mouse embryo. Developmental Dynamics 239 (6), pp. 1779 - 1788 (2010)

Klopocki, E.; Hennig, B. P.; Dathe, K.; Koll, R.; de Ravel, T.; Baten, E.; Blom, E.; Gillerot, Y.; Weigel, J. F.; Krüger, G. et al.; Hiort, O.; Seemann, P.; Mundlos, S.: Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics 86 (3), pp. 434 - 439 (2010)

Witte, F.; Bernatik, O.; Kirchner, K.; Masek, J.; Mahl, A.; Krejci, P.; Mundlos, S.; Schambony, A.; Bryja, V.; Stricker, S.: Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. The FASEB Journal 24 (7), pp. 2417 - 2426 (2010)

Liska, F.; Snajdr, P.; Stricker, S.; Gosele, C.; Krenova, D.; Mundlos, S.; Hubner, N.: Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation. Folia Biologica 56 (2), pp. 58 - 65 (2010)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)