Marchuk DA - Search Results

1

Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.

Gallione CJ, Detter MR, Sheline A, Christmas HM, Lee C, Marchuk DA. Gallione CJ, et al. Among authors: marchuk da. Hum Genet. 2022 Nov;141(11):1761-1769. doi: 10.1007/s00439-022-02458-5. Epub 2022 Apr 30. Hum Genet. 2022. PMID: 35488064 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 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

4

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.

5

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. Gallione CJ, et al. Among authors: marchuk da. Lancet. 2004 Mar 13;363(9412):852-9. doi: 10.1016/S0140-6736(04)15732-2. Lancet. 2004. PMID: 15031030

6

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.

7

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

Svenson IK, Kloos MT, Jacon A, Gallione C, Horton AC, Pericak-Vance MA, Ehlers MD, Marchuk DA. Svenson IK, et al. Among authors: marchuk da. Neurogenetics. 2005 Sep;6(3):135-41. doi: 10.1007/s10048-005-0219-2. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 15891913

8

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

9

Genetics of cerebral cavernous malformations.

Plummer NW, Zawistowski JS, Marchuk DA. Plummer NW, et al. Among authors: marchuk da. Curr Neurol Neurosci Rep. 2005 Sep;5(5):391-6. doi: 10.1007/s11910-005-0063-7. Curr Neurol Neurosci Rep. 2005. PMID: 16131422 Review.

10

Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.

Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C. Sweet K, et al. Among authors: marchuk da. JAMA. 2005 Nov 16;294(19):2465-73. doi: 10.1001/jama.294.19.2465. JAMA. 2005. PMID: 16287957

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