Journal Article (161)

  1. 1.
    Journal Article
    Geissler, S.; Textor, M.; Kühnisch, J.; Könnig, D.; Klein, O.; Ode, A.; Pfitzner, T.; Adjaye, J.; Kasper, G.; Duda, G. N.: Functional comparison of chronological and in vitro aging: differential role of the cytoskeleton and mitochondria in mesenchymal stromal cells. PLoS One 7 (12) (2012)
  2. 2.
    Journal Article
    Steffens, M.; Leu, C.; Ruppert, A. K.; Zara, F.; Striano, P.; Robbiano, A.; Capovilla, G.; Tinuper, P.; Gambardella, A.; Bianchi, A. et al.; La Neve, A.; Crichiutti, G.; de Kovel; Kasteleijn-Nolst Trenite, D.; de Haan; Lindhout, D.; Gaus, V.; Schmitz, B.; Janz, D.; Weber, Y. G.; Becker, F.; Lerche, H.; Steinhoff, B. J.; Kleefuss-Lie, A. A.; Kunz, W. S.; Surges, R.; Elger, C. E.; Muhle, H.; von Spiczak, S.; Ostertag, P.; Helbig, I.; Stephani, U.; Moller, R. S.; Hjalgrim, H.; Dibbens, L. M.; Bellows, S.; Oliver, K.; Mullen, S.; Scheffer, I. E.; Berkovic, S. F.; Everett, K. V.; Gardiner, M. R.; Marini, C.; Guerrini, R.; Lehesjoki, A. E.; Siren, A.; Guipponi, M.; Malafosse, A.; Thomas, P.; Nabbout, R.; Baulac, S.; Leguern, E.; Guerrero, R.; Serratosa, J. M.; Reif, P. S.; Rosenow, F.; Morzinger, M.; Feucht, M.; Zimprich, F.; Kapser, C.; Schankin, C. J.; Suls, A.; Smets, K.; De Jonghe, P.; Jordanova, A.; Caglayan, H.; Yapici, Z.; Yalcin, D. A.; Baykan, B.; Bebek, N.; Ozbek, U.; Gieger, C.; Wichmann, H. E.; Balschun, T.; Ellinghaus, D.; Franke, A.; Meesters, C.; Becker, T.; Wienker, T. F.; Hempelmann, A.; Schulz, H.; Ruschendorf, F.; Leber, M.; Pauck, S. M.; Trucks, H.; Toliat, M. R.; Nurnberg, P.; Avanzini, G.; Koeleman, B. P.; Sander, T.: Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Human Molecular Genetics 21 (24), pp. 5359 - 5372 (2012)
  3. 3.
    Journal Article
    Rump, A.; Hildebrand, L.; Tzschach, A.; Ullmann, R.; Schrock, E.; Mitter, D.: A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. European journal of human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012, p. e - e (2012)
  4. 4.
    Journal Article
    Bolshoy, A.; Tatarinova, T.: Methods of Combinatorial Optimization to Reveal Factors Affecting Gene Length. Bioinformatics and Biology Insights 6 (2012)
  5. 5.
    Journal Article
    Xue, Y.; Chen, Y.; Ayub, Q.; Huang, N.; Ball, E. V.; Mort, M.; Phillips, A. D.; Shaw, K.; Stenson, P. D.; Cooper, D. N. et al.; Tyler-Smith, C.; The 1000 Genomes Project Consortium; Timmermann, B.; Lehrach, H.; Herwig, R.: Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing. The American Journal of Human Genetics 91 (6), pp. 1022 - 1031 (2012)
  6. 6.
    Journal Article
    Bulk, E.; Yu, J.; Hascher, A.; Koschmieder, S.; Wiewrodt, R.; Krug, U.; Timmermann, B.; Marra, A.; Hillejan, L.; Wiebe, K. et al.; Berdel, W. E.; Schwab, A.; Müller-Tidow, C.: Mutations of the EPHB6 receptor tyrosine kinase induce a pro-metastatic phenotype in non-small cell lung cancer. PLoS One 7 (12) (2012)
  7. 7.
    Journal Article
    Haghighi, A.; Nikuei, P.; Haghighi-Kakhki, H.; N, H. S.-G.; Baghestani, S.; Krawitz, P. M.; Hecht, J.; Mundlos, S.: Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 2012, p. e - e (2012)
  8. 8.
    Journal Article
    Gonzalez-Perez, P.; Lu, Y. B.; Chian, R. J.; Sapp, P. C.; Tanzi, R. E.; Bertram, L.; McKenna-Yasek, D.; Gao, F. B.; Brown, R. H.: Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. Neurobiology of Disease 48 (3), pp. 391 - 398 (2012)
  9. 9.
    Journal Article
    Lim, B. N.; Choong, Y. S.; Ismail, A.; Glökler, J.; Konthur, Z.; Lim, T. S.: Directed evolution of nucleotide-based libraries using lambda exonuclease. Biotechniques 53 (6), pp. 357 - 364 (2012)
  10. 10.
    Journal Article
    Pennimpede, T.; Proske, J.; Koenig, A.; Vidigal, J. A.; Morkel, M.; Bramsen, J. B.; Herrmann, B. G.; Wittler, L.: In vivo knockdown of Brachyury results in skeletal defects and urorectal malformations resembling caudal regression syndrome. Developmental Biology 372 (1), pp. 55 - 67 (2012)
  11. 11.
    Journal Article
    Türkmen, S.; Timmermann, B.; Bartels, G.; Gröger, D.; Meyer, C.; Schwartz, S.; Haferlach, C.; Rieder, H.; Gökbuget, N.; Hoelzer, D. et al.; Marschalek, R.; Burmeister, T.: Involvement of the MLL gene in adult T-lymphoblastic leukemia. Genes, Chromosomes and Cancer 51 (12), pp. 1114 - 1124 (2012)
  12. 12.
    Journal Article
    van Delft, J.; Gaj, S.; Lienhard, M.; Albrecht, M.; Kirpiy, A.; Brauers, K.; Claessen, S.; Lizarraga, D.; Lehrach, H.; Herwig, R. et al.; Kleinjans, J.: RNA-Seq provides new insights in the transcriptome responses induced by the carcinogen benzo[a]pyrene. Toxicological Sciences 130 (2), pp. 427 - 439 (2012)
  13. 13.
    Journal Article
    Makrantonaki, E.; Brink, T.; Zampeli, V.; Elewa, R. M.; Mlody, B.; Hossini, A. M.; Hermes, B.; Krause, U.; Knolle, J.; Abdallah, M. et al.; Adjaye, J.; Zouboulis, C. C.: Identification of biomarkers of human skin ageing in both genders. Wnt signalling - a label of skin ageing? PLoS One 7 (11) (2012)
  14. 14.
    Journal Article
    Villavicencio-Lorini, P.; Klopocki, E.; Trimborn, M.; Koll, R.; Mundlos, S.; Horn, D.: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012 (2012)
  15. 15.
    Journal Article
    Kähler, C.; Isensee, J.; Nonhoff, U.; Terrey, M.; Hucho, T.; Lehrach, H.; Krobitsch, S.: Ataxin-2-like is a regulator of stress granules and processing bodies. PLoS One 7 (11) (2012)
  16. 16.
    Journal Article
    Farrall, A.; Riemer, P.; Leushacke, M.; Sreekumar, A.; Grimm, C.; Hermann, B. G.; Morkel, M.: Wnt and BMP signals control intestinal adenoma cell fates. International Journal of Cancer 131 (10), pp. 2242 - 2252 (2012)
  17. 17.
    Journal Article
    Vowinckel, J.; Stahlberg, S.; Paulmann, N.; Bluemlein, K.; Grohmann, M.; Ralser, M.; Walther, D. J.: Histaminylation of glutamine residues is a novel posttranslational modification implicated in G-protein signaling. FEBS Letters 586 (21), pp. 3819 - 3824 (2012)
  18. 18.
    Journal Article
    Abecasis, G. R.; Auton, A.; Brooks, L. D.; DePristo, M. A.; Durbin, R. M.; Handsaker, R. E.; Kang, H. M.; Marth, G. T.; McVean, G. A.; The 1000 Genomes Project Consortium et al.; Sudbrak, R.; Albrecht, M.; Amstislavskiy, V.; Borodina, T. A.; Davydov, A.; Herwig, R.; Lienhard, M.; Mertes, F.; Sultan, M.; Timmermann, B.; Yaspo, M. L.; Lehrach, H.: An integrated map of genetic variation from 1,092 human genomes. Nature 491 (7422), pp. 56 - 65 (2012)
  19. 19.
    Journal Article
    Bluemlein, K.; Glückmann, M.; Grüning, N.-M.; Feichtinger, R.; Krüger, A.; Wamelink, M.; Lehrach, H.; Tate, S.; Neureiter, D.; Kofler, B. et al.; Ralser, M.: Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget 3 (11), pp. 1356 - 1369 (2012)
  20. 20.
    Journal Article
    Bluemlein, K.; Glückmann, M.; Grüning, N.-M.; Feichtinger, R.; Krueger, A.; Wamelink6,, M.; Lehrach, H.; Tate, S.; Neureiter, D.; Kofler, B. et al.; Ralser, M.: Pyruvate kinase is a dosage-dependent regulator of cellular amino acid homeostasis. Oncotarget 3 (11), p. 1356 - 1356 (2012)
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