Rosenberger G - Search Results

1

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.

Nauth T, Bazgir F, Voß H, Brandenstein LI, Mosaddeghzadeh N, Rickassel V, Deden S, Gorzelanny C, Schlüter H, Ahmadian MR, Rosenberger G. Nauth T, et al. Among authors: rosenberger g. Hum Mol Genet. 2023 Jan 6;32(2):304-318. doi: 10.1093/hmg/ddac188. Hum Mol Genet. 2023. PMID: 35981076

2

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. Lindsey-Temple S, et al. Among authors: rosenberger g. Eur J Hum Genet. 2022 Sep;30(9):1088-1093. doi: 10.1038/s41431-022-01139-1. Epub 2022 Jun 29. Eur J Hum Genet. 2022. PMID: 35764878 Free PMC article.

3

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.

Gripp KW, Kolbe V, Brandenstein LI, Rosenberger G. Gripp KW, et al. Among authors: rosenberger g. Clin Genet. 2017 Sep;92(3):332-337. doi: 10.1111/cge.12980. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28139825

4

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, De Luca A, Merbitz-Zahradnik T, Dallapiccola B, Morlot S, Tartaglia M, Kutsche K, Ahmadian MR, Rosenberger G. Gremer L, et al. Among authors: rosenberger g. Hum Mol Genet. 2010 Mar 1;19(5):790-802. doi: 10.1093/hmg/ddp548. Epub 2009 Dec 8. Hum Mol Genet. 2010. PMID: 19995790

5

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

Gripp KW, Baker L, Robbins KM, Stabley DL, Bellus GA, Kolbe V, Nauth T, Rosenberger G. Gripp KW, et al. Among authors: rosenberger g. Eur J Hum Genet. 2020 Nov;28(11):1548-1554. doi: 10.1038/s41431-020-0662-4. Epub 2020 Jun 4. Eur J Hum Genet. 2020. PMID: 32499600 Free PMC article.

6

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

Meyer Zum Büschenfelde U, Brandenstein LI, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K. Meyer Zum Büschenfelde U, et al. Among authors: rosenberger g. PLoS Genet. 2018 May 7;14(5):e1007370. doi: 10.1371/journal.pgen.1007370. eCollection 2018 May. PLoS Genet. 2018. PMID: 29734338 Free PMC article.

7

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 PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G. Lorenz S, et al. Among authors: rosenberger g. Hum Mol Genet. 2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335589

8

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. Rosenberger G, et al. Hum Mol Genet. 2003 Jan 15;12(2):155-67. doi: 10.1093/hmg/ddg019. Hum Mol Genet. 2003. PMID: 12499396

9

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. Rosenberger G, et al. Hum Mutat. 2009 Mar;30(3):352-62. doi: 10.1002/humu.20855. Hum Mutat. 2009. PMID: 19035362

10

RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.

Brand K, Kentsch H, Glashoff C, Rosenberger G. Brand K, et al. Among authors: rosenberger g. Hum Mutat. 2014 Nov;35(11):1372-81. doi: 10.1002/humu.22682. Hum Mutat. 2014. PMID: 25178484

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