Robinson PN - Search Results

1

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.

Rodríguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, Robinson PN, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, Krawitz PM. Rodríguez de Los Santos M, et al. Among authors: robinson pn. Proc Natl Acad Sci U S A. 2021 Jan 12;118(2):e2014481118. doi: 10.1073/pnas.2014481118. Proc Natl Acad Sci U S A. 2021. PMID: 33402532 Free PMC article.

2

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.

Robinson PN, Böhme U, Lopez R, Mundlos S, Nürnberg P. Robinson PN, et al. Hum Mol Genet. 2004 Sep 1;13(17):1969-78. doi: 10.1093/hmg/ddh207. Epub 2004 Jul 14. Hum Mol Genet. 2004. PMID: 15254011

3

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S. Albrecht AN, et al. Among authors: robinson pn. Hum Mol Genet. 2004 Oct 15;13(20):2351-9. doi: 10.1093/hmg/ddh277. Epub 2004 Aug 27. Hum Mol Genet. 2004. PMID: 15333588

4

RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome.

Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN. Booms P, et al. Among authors: robinson pn. Hum Genet. 2005 Jan;116(1-2):51-61. doi: 10.1007/s00439-004-1194-7. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517394

5

A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.

Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN. Booms P, et al. Among authors: robinson pn. J Mol Cell Cardiol. 2006 Feb;40(2):234-46. doi: 10.1016/j.yjmcc.2005.11.009. J Mol Cell Cardiol. 2006. PMID: 16442122

6

Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment.

Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Guo G, et al. Among authors: robinson pn. Circulation. 2006 Oct 24;114(17):1855-62. doi: 10.1161/CIRCULATIONAHA.105.601674. Epub 2006 Oct 9. Circulation. 2006. PMID: 17030689

7

Walking the interactome for prioritization of candidate disease genes.

Köhler S, Bauer S, Horn D, Robinson PN. Köhler S, et al. Among authors: robinson pn. Am J Hum Genet. 2008 Apr;82(4):949-58. doi: 10.1016/j.ajhg.2008.02.013. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371930 Free PMC article.

8

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. Robinson PN, et al. Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950739 Free PMC article.

9

Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts.

Ott CE, Bauer S, Manke T, Ahrens S, Rödelsperger C, Grünhagen J, Kornak U, Duda G, Mundlos S, Robinson PN. Ott CE, et al. Among authors: robinson pn. J Bone Miner Res. 2009 Jul;24(7):1247-62. doi: 10.1359/jbmr.090206. J Bone Miner Res. 2009. PMID: 19257815 Free article.

10

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.

Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN. Türkmen S, et al. Among authors: robinson pn. PLoS Genet. 2009 May;5(5):e1000487. doi: 10.1371/journal.pgen.1000487. Epub 2009 May 22. PLoS Genet. 2009. PMID: 19461874 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

413 results

Search Page

Filters