Rosenberger G - Search Results

1

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 FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: rosenberger g. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276

2

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.

3

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

4

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

5

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

6

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.

7

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

8

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.

9

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. Kim HG, et al. Among authors: rosenberger g. Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018. Am J Hum Genet. 2010. PMID: 20887964 Free PMC article.

10

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.

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