Research ExplorerScientific StaffKerstin Kutsche Publications

Prof. Dr. ID: 40416

Kerstin Kutsche

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Publications

  1. 2012

  2. Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.

    Ramakers, G. J. A., Wolfer, D., Rosenberger, G., Kuchenbecker, K., Kreienkamp, H-J., Prange-Kiel, J., Rune, G. M., Richter, K., Langnaese, K., Masneuf, S., Bösl, M. R., Fischer, K-D., Krugers, H. J., Lipp, H-P., van Galen, E. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 2, p. 268-286 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

    Indrieri, A., van Rahden, V., Alexandra, V., Tiranti, V., Morleo, M., Iaconis, D., Tammaro, R., D'Amato, I., Conte, I., Maystadt, I., Demuth, S., Kutsche, K., Kutsche, K., Zeviani, M. & Franco, B., 2012, In: AM J HUM GENET. 91, 5, p. 942-949 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.

    van Rahden, V., Brand, K., Najm, J., Heeren, J., Heeren, J., Braulke, T., Kutsche, K. & Kutsche, K., 2012, In: HUM MOL GENET. 21, 23, p. 5019-5038 23.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

    Kim, H-G., Kim, H-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., Talkowski, M. E., Ruderfer, D., Lee, J-H., Glotzbach, C., Ha, K., Kjaergaard, S., Levin, A. V., Romeike, B. F., Kleefstra, T., Bartsch, O., Elsea, S. H., Jabs, E. W., MacDonald, M. E., Harris, D. J., Quade, B. J., Ropers, H-H., Shaffer, L. G., Kutsche, K., Layman, L. C., Tommerup, N., Kalscheuer, V. M., Shi, Y., Morton, C. C., Kim, C-H. & Gusella, J. F., 2012, In: AM J HUM GENET. 91, 1, p. 56-72 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

    Lorenz, S., Petersen, C., Kordaß, U., Seidel, H., Zenker, M. & Kutsche, K., 2012, In: EUR J MED GENET. 55, 11, p. 615-619 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. 2011

  8. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

    Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G. & Kutsche, K., 2011, In: MOL SYNDROMOL. 2, 1, p. 27-34 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Phenotypic spectrum associated with CASK loss-of-function mutations.

    Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., Engels, H., Hilde, V. E., Grasshoff, U., Heise, M., Isidor, B., Jarvis, J., Koehler, U., Martin, T., Oehl-Jaschkowitz, B., Ortibus, E., Pilz, D. T., Prabhakar, P., Rappold, G., Rau, I., Rettenberger, G., Schlüter, G., Scott, R. H., Shoukier, M., Wohlleber, E., Zirn, B., Dobyns, W. B. & Uyanik, G., 2011, In: J MED GENET. 48, 11, p. 741-751 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

    Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K. & Dobyns, W. B., 2011, In: J MED GENET. 48, 6, p. 396-406 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. 2010

  12. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

    Girisha, K. M., Lewis, L. E., Phadke, S. R. & Kutsche, K., 01.11.2010, In: AM J MED GENET A. 152A, 11, p. 2861-4 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. A restricted spectrum of NRAS mutations causes Noonan syndrome.

    Cirstea, I. C., Kutsche, K., Dvorsky, R., Gremer, L., Carta, C., Horn, D., Roberts, A. E., Lepri, F., Merbitz-Zahradnik, T., König, R., Kratz, C. P., Pantaleoni, F., Dentici, M. L., Joshi, V. A., Kucherlapati, R. S., Mazzanti, L., Mundlos, S., Patton, M. A., Silengo, M. C., Rossi, C., Zampino, G., Digilio, C., Stuppia, L., Seemanova, E., Pennacchio, L. A., Gelb, B. D., Dallapiccola, B., Wittinghofer, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., 2010, In: NAT GENET. 42, 1, p. 27-29 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

    Steichen-Gersdorf, E., Griesmaier, E., Pientka, F. K., Kotzot, D. & Kutsche, K., 2010, In: CLIN DYSMORPHOL. 19, 2, p. 82-84 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Large intragenic deletions of the NF2 gene: breakpoints and associated phenotypes.

    Abo-Dalo, B., Kutsche, K., Mautner, V. F. & Kluwe, L., 2010, In: GENE CHROMOSOME CANC. 49, 2, p. 171-175 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

    Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., Hellenbroich, Y., Kalscheuer, V. M., Kohlhase, J., Moog, U., Rappold, G., Rauch, A., Ropers, H-H., von Spiczak, S., Tönnies, H., Villeneuve, N., Villard, L., Zabel, B., Zenker, M., Laube, B., Reis, A., Wieczorek, D., Lionel, V. M. & Kutsche, K., 2010, In: NAT GENET. 42, 11, p. 1021-1026 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Neuro-kardio-fazio-kutane Syndrome: Überlappende Phänotypen mit gemeinsamem molekularem Signalweg interdisziplinäres Betreuungskonzept

    Mautner, V. F., Nguyen, R., Bernhardt, A., Von Kodolitsch, Y., Zenker, M. & Kutsche, K., 2010, In: MED GENET-BERLIN. 1, p. 10-19

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. The face of Noonan syndrome: Does phenotype predict genotype.

    Allanson, J. E., Bohring, A., Dörr, H-G., Dufke, A., Gillessen-Kaesbach, G., Horn, D., König, R., Kratz, C. P., Kutsche, K., Pauli, S., Raskin, S., Rauch, A., Turner, A., Wieczorek, D. & Zenker, M., 2010, In: AM J MED GENET A. 152, 8, p. 1960-1966 8.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

    Fabretto, A., Kutsche, K., Harmsen, M-B., Demarini, S., Gasparini, P., Fertz, M. C. & Zenker, M., 2010, In: EUR J MED GENET. 53, 5, p. 322-324 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. 2009

  21. Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

    Gremer, L., Alessandro, D. L., Merbitz-Zahradnik, T., Dallapiccola, B., Morlot, S., Tartaglia, M., Kutsche, K., Ahmadian, M. R. & Rosenberger, G., 2009, In: HUM MOL GENET.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

    Harmsen, M-B., Azzarello-Burri, S., González, G., Mar, M., Gillessen-Kaesbach, G., Meinecke, P., Müller, D., Rauch, A., Rossier, E., Seemanova, E., Spaich, C., Steiner, B., Wieczorek, D., Kutsche, K. & Kutsche, K., 2009, In: EUR J HUM GENET. 17, 10, p. 1207-1215 10.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

    Cordeddu, V., Elia, D. S., Pennacchio, L. A., Ma'ayan, A., Sarkozy, A., Fodale, V., Cecchetti, S., Cardinale, A., Martin, J., Schackwitz, W., Lipzen, A., Zampino, G., Mazzanti, L., Digilio, M. C., Martinelli, S., Flex, E., Lepri, F., Deborah, B., Kutsche, K., Ferrero, G. B., Anichini, C., Selicorni, A., Rossi, C., Tenconi, R., Zenker, M., Merlo, D., Dallapiccola, B., Iyengar, R., Bazzicalupo, P., Gelb, B. D. & Tartaglia, M., 2009, In: NAT GENET. 41, 9, p. 1022-1026 9.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.

    Rosenberger, G., Meien, S. & Kutsche, K., 2009, In: HUM MUTAT. 30, 3, p. 352-362 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. 2008

  26. AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling.

    Missy, K., Hu, B., Schilling, K., Harenberg, A., Sakk, V., Kuchenbecker, K., Kutsche, K. & Fischer, K-D., 2008, In: MOL CELL BIOL. 28, 11, p. 3776-3789 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Disruption of neurexin 1 associated with autism spectrum disorder.

    Kim, H-G., Kishikawa, S., Higgins, A. W., Seong, I-S., Donovan Diana, J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., Descartes, M., Holt, L., Braddock, S., Troxell, R., Kaplan, L., Volkmar, F., Klin, A., Tsatsanis, K., Harris, D. J., Noens, I., Pauls, D. L., Daly, M. J., MacDonald, M. E., Morton, C. C., Quade Bradley, J. & Gusella, J. F., 2008, In: AM J HUM GENET. 82, 1, p. 199-207 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

    Schulz, A. L., Albrecht, B., Arici, C., van der Burgt, I., Buske, A., Gillessen-Kaesbach, G., Heller, R., Horn, D., Hübner, C., Korenke, G. C., König, R., Kress, W., Krüger, G., Meinecke, P., Mücke, J., Plecko, B., Rossier, E., Schinzel, A., Schulze, A., Seemanova, E., Seidel, H., Spranger, S., Tuysuz, B., Uhrig, S., Wieczorek, D., Kutsche, K. & Zenker, M., 2008, In: CLIN GENET. 73, 1, p. 62-70 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    Najm, J., Horn, D., Rau, I., Golden, J. A., Chizhikov, V. V., Jyotsna, S., Christian, S. L., Ullmann, R., Kuechler, A., Haas, C. A., Flubacher, A., Charnas, L. R., Uyanik, G., Frank, U., Klopocki, E., Dobyns, W. B. & Kutsche, K., 2008, In: NAT GENET.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.

    Abo-Dalo, B., Roes, M., Canún, S., Delatycki, M., Gillessen-Kaesbach, G., Hrytsiuk, I., Jung, C., Kerr, B., Mowat, D., Seemanova, E., Steiner, C. E., Stewart, H., Thierry, P., van Buggenhout, G., White, S., Zenker, M. & Kutsche, K., 2008, In: CLIN DYSMORPHOL. 17, 3, p. 181-185 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

    Morris-Rosendahl, D. J., Najm, J., Lachmeijer, A. M. A., Sztriha, L., Martins, M., Kuechler, A., Haug, V., Zeschnigk, C., Martin, P., Santos, M., Vasconcelos, C., Omran, H., Kraus, U., Van der Knaap, M. S., Schuierer, G., Kutsche, K. & Uyanik, G., 2008, In: CLIN GENET. 74, 5, p. 425-433 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. 2007

  33. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

    Martínez-Garay, I., Tomás, M., Oltra, S., Ramser, J., Moltó, M. D., Prieto, F., Meindl, A., Kutsche, K. & Martínez, F., 2007, In: EUR J HUM GENET. 15, 1, p. 29-34 1.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

    Hyung-Goo, K., Higgins Anne, W., Herrick Steven, R., Kishikawa, S., Nicholson, L., Kutsche, K., Ligon Azra, H., Harris David, J., Macdonald Marcy, E., Bruns Gail, A. P., Morton Cynthia, C., Quade Bradley, J. & Gusella James, F., 2007, In: AM J MED GENET A. 143, 2, p. 107-111 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

    Zenker, M., Lehmann, K., Schulz, A. L., Barth, H., Hansmann, D., Koenig, R., Korinthenberg, R., Kreiss-Nachtsheim, M., Meinecke, P., Morlot, S., Mundlos, S., Quante, A. S., Raskin, S., Schnabel, D., Wehner, L-E., Kratz, C. P., Horn, D. & Kutsche, K., 2007, In: J MED GENET. 44, 2, p. 131-135 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

    Abo-Dalo, B., Kim, H-G., Roes, M., Stefanova, M., Higgins, A., Shen, Y., Mundlos, S., Quade, B. J., Gusella, J. F. & Kutsche, K., 2007, In: AM J MED GENET A. 143, 22, p. 2668-2674 22.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

    Rau, I., Shaw, G. M. & Kutsche, K., 2007, In: MOL VIS. 13, p. 1475-1482

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

    Rau, I., Rauch, A., Orth, U., Schwarzer, U., Trautmann, U. & Kutsche, K., 2007, In: EUR J MED GENET. 50, 6, p. 421-431 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

    Zenker, M., Horn, D., Wieczorek, D., Allanson, J., Pauli, S., van der Burgt, I., Doerr, H-G., Gaspar, H., Hofbeck, M., Gillessen-Kaesbach, G., Koch, A., Meinecke, P., Mundlos, S., Nowka, A., Rauch, A., Reif, S., von Schnakenburg, C., Seidel, H., Wehner, L-E., Zweier, C., Bauhuber, S., Matejas, V., Kratz, C. P., Thomas, C. & Kutsche, K., 2007, In: J MED GENET. 44, 10, p. 651-656 10.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. 2006

  41. AlphaPIX and betaPIX and their role in focal adhesion formation

    Rosenberger, G. & Kutsche, K., 2006, In: EUR J CELL BIOL. 85, 3-4, p. 265-274 10 p., 3-4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

    Rau, I., Morleo, M., Rosenberger, G., Iaconis, D., Orth, U., Meinecke, P., Lerer, I., Ballabio, A., Gal, A., Franco, B. & Kutsche, K., 2006, In: AM J HUM GENET. 79, 5, p. 878-889 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.

    Martinez-Garay, I., Rustom, A., Gerdes, H-H. & Kutsche, K., 2006, In: GENOMICS. 87, 2, p. 243-253 2.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. 2003

  45. Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions

    Stefanova, M., Atanassov, D., Krastev, T., Fuchs, S. & Kutsche, K., 15.03.2003, In: AM J MED GENET A. 117A, 3, p. 289-94 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

    Rosenberger, G., Jantke, I., Gal, A. & Kutsche, K., 15.01.2003, In: HUM MOL GENET. 12, 2, p. 155-67 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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