Marchuk DA - Search Results

1

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.

2

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.

Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA. Zawistowski JS, et al. Among authors: marchuk da. Hum Mol Genet. 2002 Feb 15;11(4):389-96. doi: 10.1093/hmg/11.4.389. Hum Mol Genet. 2002. PMID: 11854171

3

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA. Reid E, et al. Among authors: marchuk da. Am J Hum Genet. 2002 Nov;71(5):1189-94. doi: 10.1086/344210. Epub 2002 Sep 24. Am J Hum Genet. 2002. PMID: 12355402 Free PMC article.

4

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.

Srinivasan S, Hanes MA, Dickens T, Porteous ME, Oh SP, Hale LP, Marchuk DA. Srinivasan S, et al. Among authors: marchuk da. Hum Mol Genet. 2003 Mar 1;12(5):473-82. doi: 10.1093/hmg/ddg050. Hum Mol Genet. 2003. PMID: 12588795

5

Vascular morphogenesis: tales of two syndromes.

Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS. Marchuk DA, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R97-112. doi: 10.1093/hmg/ddg103. Hum Mol Genet. 2003. PMID: 12668602 Review.

6

Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy.

Le Corvoisier P, Park HY, Carlson KM, Marchuk DA, Rockman HA. Le Corvoisier P, et al. Among authors: marchuk da. Hum Mol Genet. 2003 Dec 1;12(23):3097-107. doi: 10.1093/hmg/ddg333. Epub 2003 Sep 30. Hum Mol Genet. 2003. PMID: 14519689

7

Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations.

Whitehead KJ, Plummer NW, Adams JA, Marchuk DA, Li DY. Whitehead KJ, et al. Among authors: marchuk da. Development. 2004 Mar;131(6):1437-48. doi: 10.1242/dev.01036. Development. 2004. PMID: 14993192

8

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

Verlaan DJ, Laurent SB, Rochefort DL, Liquori CL, Marchuk DA, Siegel AM, Rouleau GA. Verlaan DJ, et al. Among authors: marchuk da. Ann Neurol. 2004 May;55(5):757-8. doi: 10.1002/ana.20112. Ann Neurol. 2004. PMID: 15122722 No abstract available.

9

Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.

Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, Marchuk DA. Plummer NW, et al. Among authors: marchuk da. Am J Pathol. 2004 Nov;165(5):1509-18. doi: 10.1016/S0002-9440(10)63409-8. Am J Pathol. 2004. PMID: 15509522 Free PMC article.

10

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis.

Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA. Zawistowski JS, et al. Among authors: marchuk da. Hum Mol Genet. 2005 Sep 1;14(17):2521-31. doi: 10.1093/hmg/ddi256. Epub 2005 Jul 21. Hum Mol Genet. 2005. PMID: 16037064

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