Rosenberger G - Search Results

1

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

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Wimplinger I, et al. Among authors: rosenberger g. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6. Am J Hum Genet. 2006. PMID: 17033964 Free PMC article.

2

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

3

AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading.

Rosenberger G, Gal A, Kutsche K. Rosenberger G, et al. J Biol Chem. 2005 Feb 25;280(8):6879-89. doi: 10.1074/jbc.M412119200. Epub 2004 Dec 20. J Biol Chem. 2005. PMID: 15611136 Free article.

4

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

5

AlphaPIX and betaPIX and their role in focal adhesion formation.

Rosenberger G, Kutsche K. Rosenberger G, et al. Eur J Cell Biol. 2006 Apr;85(3-4):265-74. doi: 10.1016/j.ejcb.2005.10.007. Epub 2005 Dec 5. Eur J Cell Biol. 2006. PMID: 16337026 Review.

6

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, von Kodolitsch Y, Rosenberger G. Leutermann R, et al. Among authors: rosenberger g. Eur J Hum Genet. 2014 Jul;22(7):944-8. doi: 10.1038/ejhg.2013.252. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193348 Free PMC article. Clinical Trial.

7

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. Chilian B, et al. Among authors: rosenberger g. Clin Genet. 2013 Dec;84(6):560-5. doi: 10.1111/cge.12105. Epub 2013 Feb 21. Clin Genet. 2013. PMID: 23350639

8

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

9

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. Abdollahpour H, et al. Among authors: rosenberger g. Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781758 Free PMC article.

10

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.

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