Marchuk DA - Search Results

1

Cerebral cavernous malformations are driven by ADAMTS5 proteolysis of versican.

Hong CC, Tang AT, Detter MR, Choi JP, Wang R, Yang X, Guerrero AA, Wittig CF, Hobson N, Girard R, Lightle R, Moore T, Shenkar R, Polster SP, Goddard LM, Ren AA, Leu NA, Sterling S, Yang J, Li L, Chen M, Mericko-Ishizuka P, Dow LE, Watanabe H, Schwaninger M, Min W, Marchuk DA, Zheng X, Awad IA, Kahn ML. Hong CC, et al. Among authors: marchuk da. J Exp Med. 2020 Oct 5;217(10):e20200140. doi: 10.1084/jem.20200140. J Exp Med. 2020. PMID: 32648916 Free PMC article.

2

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Liquori CL, et al. Among authors: marchuk da. Am J Hum Genet. 2003 Dec;73(6):1459-64. doi: 10.1086/380314. Epub 2003 Nov 17. Am J Hum Genet. 2003. PMID: 14624391 Free PMC article.

3

Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations.

Plummer NW, Squire TL, Srinivasan S, Huang E, Zawistowski JS, Matsunami H, Hale LP, Marchuk DA. Plummer NW, et al. Among authors: marchuk da. Mamm Genome. 2006 Feb;17(2):119-28. doi: 10.1007/s00335-005-0098-8. Epub 2006 Feb 7. Mamm Genome. 2006. PMID: 16465592

4

Deletions in CCM2 are a common cause of cerebral cavernous malformations.

Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Liquori CL, et al. Among authors: marchuk da. Am J Hum Genet. 2007 Jan;80(1):69-75. doi: 10.1086/510439. Epub 2006 Nov 14. Am J Hum Genet. 2007. PMID: 17160895 Free PMC article.

5

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.

Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F. Liquori CL, et al. Among authors: marchuk da. Neurogenetics. 2008 Feb;9(1):25-31. doi: 10.1007/s10048-007-0109-x. Epub 2007 Dec 1. Neurogenetics. 2008. PMID: 18060436

6

Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models.

Shenkar R, Venkatasubramanian PN, Wyrwicz AM, Zhao JC, Shi C, Akers A, Marchuk DA, Awad IA. Shenkar R, et al. Among authors: marchuk da. Neurosurgery. 2008 Oct;63(4):790-7; discussion 797-8. doi: 10.1227/01.NEU.0000315862.24920.49. Neurosurgery. 2008. PMID: 18981891 Free PMC article.

7

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA. Akers AL, et al. Among authors: marchuk da. Hum Mol Genet. 2009 Mar 1;18(5):919-30. doi: 10.1093/hmg/ddn430. Epub 2008 Dec 16. Hum Mol Genet. 2009. PMID: 19088123 Free PMC article.

8

Biology of vascular malformations of the brain.

Leblanc GG, Golanov E, Awad IA, Young WL; Biology of Vascular Malformations of the Brain NINDS Workshop Collaborators. Leblanc GG, et al. Stroke. 2009 Dec;40(12):e694-702. doi: 10.1161/STROKEAHA.109.563692. Epub 2009 Oct 15. Stroke. 2009. PMID: 19834013 Free PMC article. Review.

9

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, Marchuk DA. McDonald DA, et al. Among authors: marchuk da. Hum Mol Genet. 2011 Jan 15;20(2):211-22. doi: 10.1093/hmg/ddq433. Epub 2010 Oct 11. Hum Mol Genet. 2011. PMID: 20940147 Free PMC article.

10

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.

Gallione CJ, Solatycki A, Awad IA, Weber JL, Marchuk DA. Gallione CJ, et al. Among authors: marchuk da. Genet Med. 2011 Jul;13(7):662-6. doi: 10.1097/GIM.0b013e318211ff8b. Genet Med. 2011. PMID: 21543988 Free PMC article.

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