Dr. ID: 37508
Georg Rosenberger
Publications
- 2023
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs
Klämbt, V., Buerger, F., Wang, C., Naert, T., Richter, K., Nauth, T., Weiss, A-C., Sieckmann, T., Lai, E., Connaughton, D., Seltzsam, S., Mann, N., Majmundar, A., Wu, C-H., Onuchic-Whitford, A., Shril, S., Schneider, S., Schierbaum, L., Dai, R., Bekheirnia, M. R., Joosten, M., Shlomovitz, O., Vivante, A., Banne, E., Mane, S., Lifton, R. P., Kirschner, K., Kispert, A., Rosenberger, G., Fischer, K-D., Lienkamp, S., Zegers, M. & Hildebrandt, F., 01.02.2023, In: J AM SOC NEPHROL. 34, 2, p. 273-290 18 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes
Nauth, T., Bazgir, F., Voß, H., Brandenstein, L. I., Mosaddeghzadeh, N., Rickassel, V., Deden, S., Gorzelanny, C., Schlüter, H., Ahmadian, M. R. & Rosenberger, G., 06.01.2023, In: HUM MOL GENET. 32, 2, p. 304-318 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2022
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
Lindsey-Temple, S., Edwards, M., Rickassel, V., Nauth, T. & Rosenberger, G., 09.2022, In: EUR J HUM GENET. 30, 9, p. 1088-1093 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load
Thievessen, I., Suhr, F., Vergarajauregui, S., Böttcher, R. T., Brixius, K., Rosenberger, G., Dewald, O., Fleischmann, B. K., Ghanem, A., Krüger, M., Engel, F. B., Fabry, B., Bloch, W. & Fässler, R., 25.07.2022, In: CURR BIOL. 32, 14, p. 3033-3047.e9Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
Demal, T. J., Scholz, T., Schüler, H., Olfe, J., Fröhlich, A., Speth, F., von Kodolitsch, Y., Mir, T. S., Reichenspurner, H., Kubisch, C., Hempel, M. & Rosenberger, G., 16.03.2022, In: SCI REP-UK. 12, 1, p. 4489Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2020
The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects
Gripp, K. W., Baker, L., Robbins, K. M., Stabley, D. L., Bellus, G. A., Kolbe, V., Nauth, T. & Rosenberger, G., 11.2020, In: EUR J HUM GENET. 28, 11, p. 1548-1554 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
Sauvigny, T., Alawi, M., Krause, L., Renner, S., Spohn, M., Busch, A., Kolbe, V., Altmüller, J., Löscher, B-S., Franke, A., Brockmann, C., Lieb, W., Westphal, M., Schmidt, N. O., Regelsberger, J. & Rosenberger, G., 09.2020, In: J NEUROL. 267, 9, p. 2533-2545 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2019
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
Kloth, K., Renner, S., Burmester, G., Steinemann, D., Pabst, B., Lorenz, B., Simon, R., Kolbe, V., Hempel, M. & Rosenberger, G., 07.2019, In: CLIN GENET. 96, 1, p. 85-90 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2018
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen, J., Kortüm, F., Rosenberger, G., Bokelmann, K., Schirmer, M. A., Denecke, J. & Santer, R., 08.2018, In: NEUROGENETICS. 19, 3, p. 151-156 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Meyer Zum Büschenfelde, U., Brandenstein, L. I., von Elsner, L., Flato, K., Holling, T., Zenker, M., Rosenberger, G. & Kutsche, K., 05.2018, In: PLOS GENET. 14, 5, p. e1007370Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2017
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics
Gripp, K. W., Kolbe, V., Brandenstein, L. I. & Rosenberger, G., 31.01.2017, In: CLIN GENET. 92, 3, p. 332-337Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2016
The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
von Kodolitsch, Y., Rybczynski, M., Vogler, M., Mir, T. S., Schüler, H., Kutsche, K., Rosenberger, G., Detter, C., Bernhardt, A. M., Larena-Avellaneda, A., Kölbel, T., Debus, E. S., Schroeder, M., Linke, S. J., Fuisting, B., Napp, B., Kammal, A. L., Püschel, K., Bannas, P., Hoffmann, B. A., Gessler, N., Vahle-Hinz, E., Kahl-Nieke, B., Thomalla, G., Weiler-Normann, C., Ohm, G., Neumann, S., Benninghoven, D., Blankenberg, S. & Pyeritz, R. E., 2016, In: J Multidiscip Healthc. 9, p. 587-614 28 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2015
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
Gripp, K. W., Sol-Church, K., Smpokou, P., Graham, G. E., Stevenson, D. A., Hanson, H., Viskochil, D. H., Baker, L. C., Russo, B., Gardner, N., Stabley, D. L., Kolbe, V. & Rosenberger, G., 09.2015, In: AM J MED GENET A. 167A, 9, p. 2085-97 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Abdollahpour, H., Alawi, M., Kortüm, F., Beckstette, M., Seemanova, E., Komárek, V., Rosenberger, G. & Kutsche, K., 2015, In: EUR J HUM GENET. 23, 2, p. 256-259Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Kortüm, F., Harms, F. L., Hennighausen, N. & Rosenberger, G., 2015, In: PLOS ONE. 10, 7, p. e0132737Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2014
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR
Brand, K., Kentsch, H., Glashoff, C. & Rosenberger, G., 01.11.2014, In: HUM MUTAT. 35, 11, p. 1372-81 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg
Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G. C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G. & Kutsche, K., 12.06.2014, In: MED GENET-BERLIN. 26, p. 246-254Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2013
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
Chilian, B., Abdollahpour, H., Bierhals, T., Haltrich, I., Fekete, G., Nagel, I., Rosenberger, G. & Kutsche, K., 01.12.2013, In: CLIN GENET. 84, 6, p. 560-5 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
Leutermann, R., Sheikhzadeh, S., Brockstädt, L., Rybczynski, M., van Rahden, V., Kutsche, K., Kodolitsch, Y. & Rosenberger, G., 06.11.2013, In: EUR J HUM GENET. 22, p. 944-948Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons
Meseke, M., Rosenberger, G. & Förster, E., 01.05.2013, In: EUR J NEUROSCI. 37, 9, p. 1404-12 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Lorenz, S., Lissewski, C., Simsek-Kiper, P. O., Alanay, Y., Boduroglu, K., Zenker, M. & Rosenberger, G., 15.04.2013, In: HUM MOL GENET. 22, 8, p. 1643-53 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2012
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Gripp, K. W., Bifeld, E., Stabley, D. L., Hopkins, E., Meien, S., Vinette, K., Sol-Church, K. & Rosenberger, G., 2012, In: AM J MED GENET A. 158A, 9, p. 2106-2118 9.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
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 articles › Research › peer-review
- 2011
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 articles › Research › peer-review
N-α-acetyltransferase 10 protein suppresses cancer cell metastasis by binding PIX proteins and inhibiting Cdc42/Rac1 activity.
Hua, K-T., Tan, C-T., Johansson, G., Lee, J-M., Yang, P-W., Lu, H-Y., Chen, C-K., Su, J-L., Chen, P. B., Wu, Y-L., Chi, C-C., Kao, H-J., Shih, H-J., Chen, M-W., Chien, M-H., Chen, P-S., Lee, W-J., Cheng, T-Y., Rosenberger, G., Chai, C-Y., Yang, C-J., Huang, M-S., Lai, T-C., Chou, T-Y., Hsiao, M. & Kuo, M-L., 2011, In: CANCER CELL. 19, 2, p. 218-231 2.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2010
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 articles › Research › peer-review
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim, H-G., Ahn, J-W., Kurth, I., Ullmann, R., Kim, H-T., Kulharya, A., Ha, K-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S-H., Kim, C-H., Ropers, H-H., Gusella, J. F., Kalscheuer, V., Choi, C. Y. & Layman, L. C., 2010, In: AM J HUM GENET. 87, 4, p. 465-479 4.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2009
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 articles › Research › peer-review
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 articles › Research › peer-review
- 2008
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim, H-G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., Bick, D. P., Sherins, R. J., Walker, S. L., Shi, Y., Gusella, J. F. & Layman, L. C., 2008, In: AM J HUM GENET. 83, 4, p. 511-519 4.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2006
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 articles › Research › peer-review
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 articles › Research › peer-review
PAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation.
Gringel, A., Walz, D., Rosenberger, G., Minden, A., Kutsche, K., Kopp, P. & Linder, S., 2006, In: J CELL PHYSIOL. 209, 2, p. 568-579 2.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2005
Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin
Hartwig, C., Veske, A., Krejcova, S., Rosenberger, G. & Finckh, U., 01.01.2005, In: BMC NEUROSCI. 6, p. 53Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2004
Subcellular localisation of Cdc25A determines cell fate
Leisser, C., Rosenberger, G., Maier, S., Fuhrmann, G., Grusch, M., Strasser, S., Huettenbrenner, S., Fassl, S., Polgar, D., Krieger, S., Cerni, C., Hofer-Warbinek, R., deMartin, R. & Krupitza, G., 01.01.2004, In: CELL DEATH DIFFER. 11, 1, p. 80-9 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2003
Transferrin ensures survival of ovarian carcinoma cells when apoptosis is induced by TNFalpha, FasL, TRAIL, or Myc
Fassl, S., Leisser, C., Huettenbrenner, S., Maier, S., Rosenberger, G., Strasser, S., Grusch, M., Fuhrmann, G., Leuhuber, K., Polgar, D., Stani, J., Tichy, B., Nowotny, C. & Krupitza, G., 13.11.2003, In: ONCOGENE. 22, 51, p. 8343-55 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
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 articles › Research › peer-review
- 2001
Cdc25A phosphatase suppresses apoptosis induced by serum deprivation
Fuhrmann, G., Leisser, C., Rosenberger, G., Grusch, M., Huettenbrenner, S., Halama, T., Mosberger, I., Sasgary, S., Cerni, C. & Krupitza, G., 27.07.2001, In: ONCOGENE. 20, 33, p. 4542-53 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Activation of caspases and induction of apoptosis by novel ribonucleotide reductase inhibitors amidox and didox
Grusch, M., Fritzer-Szekeres, M., Fuhrmann, G., Rosenberger, G., Luxbacher, C., Elford, H. L., Smid, K., Peters, G. J., Szekeres, T. & Krupitza, G., 01.05.2001, In: Experimental hematology. 29, 5, p. 623-32 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 2000
The ribonucleotide reductase inhibitor trimidox induces c-myc and apoptosis of human ovarian carcinoma cells
Rosenberger, G., Fuhrmann, G., Grusch, M., Fassl, S., Elford, H. L., Smid, K., Peters, G. J., Szekeres, T. & Krupitza, G., 17.11.2000, In: LIFE SCI. 67, 26, p. 3131-42 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Elevated C-reactive protein levels and impaired endothelial vasoreactivity in patients with coronary artery disease
Fichtlscherer, S., Rosenberger, G., Walter, D. H., Breuer, S., Dimmeler, S. & Zeiher, A. M., 29.08.2000, In: CIRCULATION. 102, 9, p. 1000-6 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
- 1999
The MYC dualism in growth and death
Fuhrmann, G., Rosenberger, G., Grusch, M., Klein, N., Hofmann, J. & Krupitza, G., 01.11.1999, In: MUTAT RES-FUND MOL M. 437, 3, p. 205-17 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review
Benzamide riboside induces apoptosis independent of Cdc25A expression in human ovarian carcinoma N.1 cells
Grusch, M., Rosenberger, G., Fuhrmann, G., Braun, K., Titscher, B., Szekeres, T., Fritzer-Skekeres, M., Oberhuber, G., Krohn, K., Hengstschlaeger, M., Krupitza, G. & Jayaram, H. N., 01.08.1999, In: CELL DEATH DIFFER. 6, 8, p. 736-44 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal articles › Research › peer-review