Summary of articles published by CMMC members in 2010

Selected publications related to CMMC-projects are listed in alphabetical order by the first author published in 2010.  

  1. Albert, T.K., Laubinger, W., Muller, S., Hanisch, F.G., Kalinski, T., Meyer, F., and Hoffmann, W. (2010). Human Intestinal TFF3 Forms Disulfide-Linked Heteromers with the Mucus-Associated FCGBP Protein and Is Released by Hydrogen Sulfide. J Proteome Res. 9, 3108-3017.

  2. Anttila, V., Stefansson, H., Kallela, M., Todt, U., Terwindt, G.M., Calafato, M.S., Nyholt, D.R., Dimas, A.S., Freilinger, T., Muller-Myhsok, B., Artto, V., Inouye, M., Alakurtti, K., Kaunisto, M.A., Hamalainen, E., de Vries, B., Stam, A.H., Weller, C.M., Heinze, A., Heinze-Kuhn, K., Goebel, I., Borck, G., Gobel, H., Steinberg, S., Wolf, C., Bjornsson, A., Gudmundsson, G., Kirchmann, M., Hauge, A., Werge, T., Schoenen, J., Eriksson, J.G., Hagen, K., Stovner, L., Wichmann, H.E., Meitinger, T., Alexander, M., Moebus, S., Schreiber, S., Aulchenko, Y.S., Breteler, M.M., Uitterlinden, A.G., Hofman, A., van Duijn, C.M., Tikka-Kleemola, P., Vepsalainen, S., Lucae, S., Tozzi, F., Muglia, P., Barrett, J., Kaprio, J., Farkkila, M., Peltonen, L., Stefansson, K., Zwart, J.A., Ferrari, M.D., Olesen, J., Daly, M., Wessman, M., van den Maagdenberg, A.M., Dichgans, M., Kubisch, C., Dermitzakis, E.T., Frants, R.R., and Palotie, A. (2010). Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet 42, 869-873.

  3. Bailly-Maitre B, Belgardt BF, Jordan SD, Coornaert B, von Freyend MJ, Kleinridders A, Mauer J, Cuddy M, Kress CL, Willmes D, Essig M, Hampel B, Protzer U, Reed JC, and Bruning JC (2010). Hepatic Bax Inhibitor-1 Inhibits IRE1 alpha and Protects from Obesity-associated Insulin Resistance and Glucose Intolerance. J Biol Chem 285, 6198-6207.

  4. Belgardt BF, Mauer J, Wunderlich FT, Ernst MB, Pal M, Spohn G, Bronneke HS, Brodesser S, Hampel B, Schauss AC, and Bruning JC (2010). Hypothalamic and pituitary c-Jun N-terminal kinase 1 signaling coordinately regulates glucose metabolism. P Natl Acad Sci USA 107, 6028-6033.

  5. Belgardt BF, and Bruning JC (2010). Cns leptin and insulin action in the control of energy homeostasis. Ann N Y Acad Sci 1212, 97-113.

  6. Belgardt BF, Mauer J, and Bruning JC (2010). Novel roles for jnk1 in metabolism. Aging (Albany NY) 2, 621-626.

  7. Belluoccio, D., Etich, J., Rosenbaum, S., Frie, C., Grskovic, I., Stermann, J., Ehlen, H., Vogel, S., Zaucke, F., von der Mark, K., Bateman, J.F., and Brachvogel, B. (2010). Sorting of growth plate chondrocytes allows the isolation and characterization of cells of a defined differentiation status. J Bone Miner Res 25, 1267-1281.

  8. Berkessel, A., Seelig, B., Schwengberg, S., Hescheler, J., and Sachinidis, A. (2010). Chemically induced cardiomyogenesis of mouse embryonic stem cells. Chembiochem 11, 208-217.

  9. Bilkovski R, Schulte DM, Oberhauser F, Gomolka M, Udelhoven M, Hettich MM, Roth B, Heidenreich A, Gutschow C, Krone W, and Laudes M (2010). Role of Wnt-5a in the Determination of Human Mesenchymal Stem Cells into Preadipocytes. J Bioll Chem 285, 6170-6178.

  10. Boll B, Eichenauer DA, Von Tresckow B, Peine D, Hallek M, Engert A, and Hubel K (2010). Activity of cetuximab as single agent in a patient with relapsed multiple myeloma. Leukemia Lymphoma 51, 562-564.

  11. Bonn, F., Pantakani, K., Shoukier, M., Langer, T., and Mannan, A.U. (2010). Functional evaluation of paraplegin mutations by a yeast complementation assay. Hum Mutat 31, 617-621.

  12. Borck G, Beighton P, Wilhelm C, Kohlhase J, and Kubisch C (2010). Arterial rupture in classic ehlers-danlos syndrome with col5a1 mutation. Am J Med Genet A 152A, 2090-2093.

  13. Bourdin, B., Marger, F., Wall-Lacelle, S., Schneider, T., Klein, H., Sauve, R., and  Parent, L. (2010). Molecular determinants of the CaV{beta}-induced plasma membrane targeting of the CaV1.2 channel. J Biol Chem 285, 22853-63.

  14. Bridgeman JS, Hawkins RE, Hombach AA, Abken H, and Gilham DE (2010). Building better chimeric antigen receptors for adoptive t cell therapy. Current Gene Therapy 10, 77-90.

  15. Brinkkoetter, P.T., Wu, J.S., Ohse, T., Krofft, R.D., Schermer, B., Benzing, T., Pippin, J.W., and Shankland, S.J. (2010). p35, the non-cyclin activator of Cdk5, protects podocytes against apoptosis in vitro and in vivo. Kidney Int 77, 690-699.

  16. Brinkkoetter PT, Pippin JW, and Shankland SJ (2010). Cyclin i-cdk5 governs survival in post-mitotic cells. Cell Cycle 9, 1729-1731.

  17. Brunn A, Utermohlen O, Sanchez-Ruiz M, Montesinos-Rongen M, Blau T, Schluter D, and Deckert M (2010). Dual role of B cells with accelerated onset but reduced disease activity in P0(106-125)-induced experimental autoimmune neuritis of IgH(0/0) mice. Acta Neuropathol 120, 667-681.

  18. Caglayan E, Romeo GR, Kappert K, Odenthal M, Sudkamp M, Body SC, Shernan SK, Hackbusch D, Vantler M, Kazlauskas A, and Rosenkranz S (2010). Profilin-1 Is Expressed in Human Atherosclerotic Plaques and Induces Atherogenic Effects on Vascular Smooth Muscle Cells. PLoS One 5, e13608.

  19. Carney TJ, Feitosa NM, Sonntag C, Slanchev K, Kluger J, Kiyozumi D, Gebauer JM, Talbot JC, Kimmel CB, Sekiguchi K, Wagener R, Schwarz H, Ingham PW, and Hammerschmidt M (2010). Genetic Analysis of Fin Development in Zebrafish Identifies Furin and Hemicentin 1 as Potential Novel Fraser Syndrome Disease Genes. Plos Genetics 6, e1000907.

  20. Chaurasia B, Mauer J, Koch L, Goldau J, Kock AS, and Bruning JC (2010). Phosphoinositide-Dependent Kinase 1 Provides Negative Feedback Inhibition to Toll-Like Receptor-Mediated NF-kappa B Activation in Macrophages. Mol Cell Biol 30, 4354-4366.

  21. Choi YH, Cowan DB, Wahlers TCW, Hetzer R, del Nido PJ, and Stamm C (2010). Calcium sensitisation impairs diastolic relaxation in post-ischaemic myocardium: implications for the use of Ca(2+) sensitising inotropes after cardiac surgery. Eur J Cardio-Thorac 37, 376-383.

  22. Choi, Y.H., Neef, K., Reher, M., Liakopoulos, O.J., Zeriouh, M., Wittwer, T., Stamm, C., Madershahian, N., Teschendorf, P., and Wahlers, T. (2010). The influence of pre-operative risk on the number of circulating endothelial progenitor cells during cardiopulmonary bypass. Cytotherapy 12, 79-87.

  23. Church C, Moir L, McMurray F, Girard C, Banks GT, Teboul L, Wells S, Bruning JC, Nolan PM, Ashcroft FM, and Cox RD (2010). Overexpression of Fto leads to increased food intake and results in obesity. Nature Genetics 42, 1086-92.

  24. Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bonnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Prive GG, Hannink M, Nurnberg P, and Voit T (2010). Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain 133, 2123-2135.

  25. Clemen, C.S., Tangavelou, K., Strucksberg, K.-H., Just, S., Gaertner, L., Regus-Leidig, H., Stumpf, M., Reimann, J., Coras, R., Morgan, R.O., Fernandez, M.-P., Hofmann, A., Hanisch, F.-G., Müller, S., Schoser, B., Blümcke, I., von Hörsten, S., Eichinger, L., and Schröder, R. (2010).  Direct Strumpellin–VCP Interaction links Hereditary Spastic Paraplegia to Protein Aggregation Diseases. Brain 133, 2920-41.

  26. Coras, R., Siebzehnrubl, F.A., Pauli, E., Huttner, H.B., Njunting, M., Kobow, K., Villmann, C., Hahnen, E., Neuhuber, W., Weigel, D., Buchfelder, M., Stefan, H., Steindler, D.A., and Blümcke, I. (2010). Low proliferation and differentiation capacities of adult hippocampal stem cells correlate with memory dysfunction in humans. Brain 133, 3359-72.

  27. De Andrea M, Ritta M, Landini MM, Borgogna C, Mondini M, Kern F, Ehrenreiter K, Baccarini M, Marcuzzi GP, Smola S, Pfister H, Landolfo S, and Gariglio M (2010). Keratinocyte-specific stat3 heterozygosity impairs development of skin tumors in human papillomavirus 8 transgenic mice. Cancer Res 70, 7938-7948.

  28. Di Bella, D., Lazzaro, F., Brusco, A., Plumari, M., Battaglia, G., Pastore, A., Finardi, A., Cagnoli, C., Tempia, F., Frontali, M., Veneziano, L., Sacco, T., Boda, E., Brussino, A., Bonn, F., Castellotti, B., Baratta, S., Mariotti, C., Gellera, C., Fracasso, V., Magri, S., Langer, T., Plevani, P., Di Donato, S., Muzi-Falconi, M., and Taroni, F. (2010). Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 42, 313-321.

  29. Doss, M.X., Wagh, V., Schulz, H., Kull, M., Kolde, R., Pfannkuche, K., Nolden, T., Himmelbauer, H., Vilo, J., Hescheler, J., and Sachinidis, A. (2010). Global transcriptomic analysis of murine embryonic stem cell-derived brachyury (T) cells. Genes Cells 15, 209-228.

  30. Ducka, A.M., Joel, P., Popowicz, G.M., Trybus, K.M., Schleicher, M., Noegel, A.A., Huber, R., Holak, T.A., and Sitar, T. (2010). Structures of actin-bound Wiskott-Aldrich syndrome protein homology 2 (WH2) domains of Spire and the implication for filament nucleation. Proc Natl Acad Sci U S A 10, 11757-11762.

  31. Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schafer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nurnberg G, Nurnberg P, Ruland R, Westerfield M, Benzing T, and Bolz HJ (2010). PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest 120, 1812-1823.

  32. Eming SA, Koch M, Krieger A, Brachvogel B, Kreft S, Bruckner-Tuderman L, Krieg T, Shannon JD, and Fox JW (2010). Differential Proteomic Analysis Distinguishes Tissue Repair Biomarker Signatures in Wound Exudates Obtained from Normal Healing and Chronic Wounds. J Prot Res 9, 4758-4766.

  33. Ermakov S, Toliat MR, Cohen Z, Malkin I, Altmuller J, Livshits G, and Nurnberg P (2010). Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population. Bone 46, 1244-1250.

  34. Fischer M, Bauer T, Oberthur A, Hero B, Theissen J, Ehrich M, Spitz R, Eils R, Westermann F, Brors B, Konig R, and Berthold F (2010). Integrated genomic profiling identifies two distinct molecular subtypes with divergent outcome in neuroblastoma with loss of chromosome 11q. Oncogene 29, 865-875.

  35. Fischer M, and Berthold F (2010). The role of complex genomic alterations in neuroblastoma risk estimation. Genome Med 2, 31.

  36. Förstera, B., Belaidi, A.A., Jüttner, R., Bernert, C., Tsokos, M., Lehmann, T.N., Horn, P., Dehnicke, C., Schwarz, G., and Meier, J.C. (2010). Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of epilepsy patients. Brain 133, 3778-94.

  37. Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otin M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, and Pujol A (2010). Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Human Molecular Genetics 19, 2005-2014.

  38. Frenzel LP, Patz M, Pallasch CP, Brinker R, Claasen J, Schulz A, Hallek M, Kashkar H, and Wendtner CM (2010). Novel X-Linked Inhibitor of Apoptosis (XIAP) Inhibiting Compound as Sensitizer for TRAIL-Mediated Apoptosis In Chronic Lymphocytic Leukemia with Poor Prognosis. Blood 116, 591-591.

  39. Fres JM, Muller S, and Praefcke GJ (2010). Purification of the CaaX-modified, dynamin-related large GTPase hGBP1 by coexpression with farnesyltransferase. J Lipid Res 51, 2454-2459.

  40. Friedrich K, Lee L, Leistritz DF, Nurnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nurnberg P, Li C, Garcia FVMJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, Lopez N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, and Oshima J (2010). WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet 128, 103-111.

  41. Full F, Lehner M, Thonn V, Goetz G, Scholz B, Kaufmann KB, Mach M, Abken H, Holter W, and Ensser A (2010). T Cells Engineered with a Cytomegalovirus-Specific Chimeric Immunoreceptor. Journal of Virology 84, 4083-4088.

  42. Fulzele K, Riddle RC, DiGirolamo DJ, Cao XM, Wan C, Chen DQ, Faugere MC, Aja S, Hussain MA, Bruning JC, and Clemens TL (2010). Insulin Receptor Signaling in Osteoblasts Regulates Postnatal Bone Acquisition and Body Composition. Cell 142, 309-319.

  43. Galetin, T., Weiergräber, M., Hescheler, J., and Schneider, T. (2010). Analyzing murine electrocardiogram with PhysioToolkit. J Electrocardiol 43, 701-5.

  44. Gebauer, J.M., Karlsen, K.R., Neiss, W.F., Paulsson, M., and Wagener, R. (2010). Expression of the AMACO (VWA2 protein) ortholog in zebrafish. Gene Expr Patterns 10, 53-59.

  45. Gimm T, Wiese M, Teschemacher B, Deggerich A, Schodel J, Knaup KX, Hackenbeck T, Hellerbrand C, Amann K, Wiesener MS, Honing S, Eckardt KU, and Warnecke C (2010). Hypoxia-inducible protein 2 is a novel lipid droplet protein and a specific target gene of hypoxia-inducible factor-1. Faseb Journal 24, 4443-4458.

  46. Giorgetti, L., Siggers, T., Tiana, G., Caprara, G., Notarbartolo, S., Corona, T., Pasparakis, M., Milani, P., Bulyk, M.L., and Natoli, G. (2010). Noncooperative interactions between transcription factors and clustered DNA binding sites enable graded transcriptional responses to environmental inputs. Mol Cell 37, 418-428.

  47. Glauser DL, Seyffert M, Strasser R, Franchini M, Laimbacher AS, Dresch C, de Oliveira AP, Vogel R, Buning H, Salvetti A, Ackermann M, and Fraefel C (2010). Inhibition of Herpes Simplex Virus Type 1 Replication by Adeno-Associated Virus Rep Proteins Depends on Their Combined DNA-Binding and ATPase/Helicase Activities. Journal of Virology 84, 3808-3824.

  48. Gunaseeli, I., Doss, M.X., Antzelevitch, C., Hescheler, J., and Sachinidis, A. (2010). Induced pluripotent stem cells as a model for accelerated patient- and disease-specific drug discovery. Curr Med Chem 17, 759-766.

  49. Hawkins RE, Gilham DE, Debets R, Eshhar Z, Taylor N, Abken H, Schumacher TN, and Consortium A (2010). Development of Adoptive Cell Therapy for Cancer: A Clinical Perspective. Human Gene Therapy 21, 665-672.

  50. Heesen L, Peitz M, Dimos J, Brustle O, and Wirth B (2010). Generation and application of iPS cells & motoneurons for tissue-specific analysis of SMN-specific changes in SMA patients. Transgenic Res 19, 332-332.

  51. Hill JW, Elias CF, Fukuda M, Williams KW, Berglund ED, Holland WL, Cho YR, Chuang JC, Xu Y, Choi M, Lauzon D, Lee CE, Coppari R, Richardson JA, Zigman JM, Chua S, Scherer PE, Lowell BB, Bruning JC, and Elmquist JK (2010). Direct Insulin and Leptin Action on Pro-opiomelanocortin Neurons Is Required for Normal Glucose Homeostasis and Fertility. Cell Metabolism 11, 286-297.

  52. Hombach A, Hombach AA, and Abken H (2010). Adoptive immunotherapy with genetically engineered T cells: modification of the IgG1 Fc 'spacer' domain in the extracellular moiety of chimeric antigen receptors avoids 'off-target' activation and unintended initiation of an innate immune response. Gene Ther 17, 1206-1213.

  53. Hoppe, U.C. (2010). Mitochondrial calcium channels. FEBS Lett 584, 1975-1981.

  54. Hu J, Chiang LY, Koch M, and Lewin GR (2010). Evidence for a protein tether involved in somatic touch. Embo J 29, 855-867.

  55. Iseri SU, Wyatt AW, Nurnberg G, Kluck C, Nurnberg P, Holder GE, Blair E, Salt A, and Ragge NK (2010). Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Human Genetics 128, 51-60.

  56. Jackson LP, Kelly BT, McCoy AJ, Gaffry T, James LC, Collins BM, Honing S, Evans PR, and Owen DJ (2010). A Large-Scale Conformational Change Couples Membrane Recruitment to Cargo Binding in the AP2 Clathrin Adaptor Complex. Cell 141, 1220-1229.

  57. Jangsangthong W, Kuzmenkina E, Khan IFY, Matthes J, Hullin R, and Herzig S (2010). Inactivation of L-type calcium channels is determined by the length of the N terminus of mutant beta(1) subunits. Pflug Arch Eur J Phy 459, 399-411.

  58. Janicke M, Renisch B, and Hammerschmidt M (2010). Zebrafish grainyhead-like1 is a common marker of different non-keratinocyte epidermal cell lineages, which segregate from each other in a Foxi3-dependent manner. International Journal of Developmental Biology 54, 837-850.

  59. Jordan SD, Konner AC, and Bruning JC (2010). Sensing the fuels: glucose and lipid signaling in the CNS controlling energy homeostasis. Cellular and Molecular Life Sciences 67, 3255-3273.

  60. Joucla, S., Pippow, A., Kloppenburg, P., and Pouzat, C. (2010). Quantitative estimation of calcium dynamics from ratiometric measurements: a direct, nonratioing method. J Neurophysiol 103, 1130-1144.

  61. Kalkhof S, Haehn S, Paulsson M, Smyth N, Meiler J, and Sinz A (2010a). Computational modeling of laminin N-terminal domains using sparse distance constraints from disulfide bonds and chemical cross-linking. Proteins-Structure Function and Bioinformatics 78, 3409-3427.

  62. Kalkhof S, Witte K, Ihling CH, Muller MQ, Keller MV, Haehn S, Smyth N, Paulsson M, and Sinz A (2010b). A Novel Disulfide Pattern in Laminin-Type Epidermal Growth Factor-like (LE) Modules of Laminin beta 1 and gamma 1 Chains. Biochemistry 49, 8359-8366.

  63. Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, and Herz J (2010). Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation - A Mouse Model for Cenani-Lenz Syndrome. PLoS One 5, e10418.

  64. Kashkar H (2010). X-linked Inhibitor of Apoptosis: A Chemoresistance Factor or a Hollow Promise. Clinical Cancer Research 16, 4496-4502.

  65. Kocak H, Ackermann S, Hero B, Kahlert Y, Theissen J, Ehemann V, Westermann F, Odenthal M, Oberthuer A, Berthold F, and Fischer M (2010). The homeobox transcription factor HoxC9, a key regulator of development, suppresses tumourigenicity of neuroblastoma. Klinische Padiatrie 222, 220-220.

  66. Kong D, Vong L, Parton LE, Ye CP, Tong QC, Hu XX, Choi B, Bruning JC, and Lowell BB (2010). Glucose Stimulation of Hypothalamic MCH Neurons Involves K(ATP) Channels, Is Modulated by UCP2, and Regulates Peripheral Glucose Homeostasis. Cell Metabolism 12, 545-552.

  67. Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Hohne W, Tinschert S, Garaci FG, Dallapiccola B, and Nurnberg P (2010). Three Novel Mutations in the ANK Membrane Protein Cause Craniometaphyseal Dysplasia With Variable Conductive Hearing Loss. American Journal of Medical Genetics Part A 152A, 870-874.

  68. Kremer MC, Christiansen F, Leiss F, Paehler M, Knapek S, Andlauer TFM, Forstner F, Kloppenburg P, Sigrist SJ, and Tavosanis G (2010). Structural Long-Term Changes at Mushroom Body Input Synapses. Current Biology 20, 1938-1944.

  69. Kunze A, Abari E, Semkova I, Paulsson M, and Hartmann U (2010). Deposition of Nidogens and Other Basement Membrane Proteins in the Young and Aging Mouse Retina. Ophthal Res 43, 108-112.

  70. Lambeck I, Chi JC, Krizowski S, Mueller S, Mehlmer N, Teige M, Fischer K, and Schwarz G (2010). Kinetic Analysis of 14-3-3-Inhibited Arabidopsis thaliana Nitrate Reductase. Biochemistry 49, 8177-8186.

  71. Laudes M, Oberhauser F, Schulte DM, Freude S, Bilkovski R, Mauer J, Rappl G, Abken H, Hahn M, Schulz O, and Krone W (2010). Visfatin/PBEF/Nampt and Resistin Expressions in Circulating Blood Monocytes are Differentially Related to Obesity and Type 2 Diabetes in Humans. Hormone and Metabolic Research 42, 268-273.

  72. Laudes M, Oberhauser F, Schulte DM, Schilbach K, Freude S, Bilkovski R, Schulz O, Faust M, and Krone W (2010). Dipeptidyl-Peptidase 4 and Attractin Expression is Increased in Circulating Blood Monocytes of Obese Human Subjects. Exp Clin Endocr Diab 118, 473-477.

  73. Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammerschmidt M, and Wollnik B (2010). Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling. American Journal of Human Genetics 87, 757-767.

  74. Li Y, Pabst S, Kubisch C, Grohe C, and Wollnik B (2010b). First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis. Thorax 65, 939-940.

  75. Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, and Wollnik B (2010c). LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome. American Journal of Human Genetics 86, 696-706.

  76. Li Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nurnberg P, Kubisch C, Barakat A, Kremer H, and Wollnik B (2010d). Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet 86, 479-484.

  77. Losel RM, Schnetzke U, Brinkkoetter PT, Song H, Beck G, Schnuelle P, Hoger S, Wehling M, and Yard BA (2010). N-octanoyl dopamine, a non-hemodyanic dopamine derivative, for cell protection during hypothermic organ preservation. PLoS One 5, e9713.

  78. Lüke, M., Januschowski, K., Tura, A., Lüke, J., Nassar, K., Lüke, C., Schneider, T., Szurman, P., Grisanti, S., and Bartz-Schmidt, K.U. (2010). Effects of pegaptanib sodium on retinal function in isolated perfused vertebrate retina. Curr Eye Res 35, 248-254.

  79. Luque RM, Cordoba-Chacon J, Lin Q, Kahn CR, Koch L, Bruning JC, and Kineman RD (2010). Use of the Cre-loxP System To Dissect out the Individual Roles IGF-I Receptors (IGFIR) and Insulin Receptors (INSR) Play in Mediating Somatotrope Function, In Vitro and In Vivo. Endocr Rev 31.

  80. Maersch S, Huber A, Buning H, Hallek M, and Perabo L (2010). Optimization of stealth adeno-associated virus vectors by randomization of immunogenic epitopes. Virology 397, 167-175.

  81. Marsch S, Huber A, Hallek M, Buning H, and Perabo L (2010). A Novel Directed Evolution Method to Enhance Cell-Type Specificity of Adeno-Associated Virus Vectors. Comb Chem High T Scr 13, 807-812.

  82. Mauch, C., Zamek, J., Abety, A.N., Grimberg, G., Fox, J.W., and Zigrino, P. (2010). Accelerated Wound Repair in ADAM-9 Knockout Animals. J Invest Dermatol, 130, 2120-30.

  83. Mauer J, Chaurasia B, Plum L, Quast T, Hampel B, Bluher M, Kolanus W, Kahn CR, and Bruning JC (2010). Myeloid Cell-Restricted Insulin Receptor Deficiency Protects Against Obesity-Induced Inflammation and Systemic Insulin Resistance. Plos Genetics 6, e1000938.

  84. Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., Ramser, J., Honisch, E., Kubisch, C., Wichmann, H.E., Kast, K., Deissler, H., Engel, C., Muller-Myhsok, B., Neveling, K., Kiechle, M., Mathew, C.G., Schindler, D., Schmutzler, R.K., and Hanenberg, H. (2010). Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 42, 410-414.

  85. Mende Y, Jakubik M, Riessland M, Schoenen F, Rossbach K, Kleinridders A, Kohler C, Buch T, and Wirth B (2010). Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing. Human Molecular Genetics 19, 2154-2167.

  86. Michalakis S, Muhlfriedel R, Tanimoto N, Krishnamoorthy V, Koch S, Fischer MD, Becirovic E, Bai L, Huber G, Beck SC, Fahl E, Buning H, Paquet-Durand F, Zong XA, Gollisch T, Biel M, and Seeliger MW (2010). Restoration of Cone Vision in the CNGA3(-/-) Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function. Molecular Therapy 18, 2057-2063.

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