Douglas Marchuk, PhD
Professor
bio  •  lab members  •  lab website

Representative Publications:

• Dokun AO, Keum S, Hazarika S, Yongun L, Lamonte GM, Wheeler F, Marchuk DA, Annex BH. A QTL (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss following surgical hand-limb ischemia. Circulation 117:1207-1215, 2008. [Article]
  
  
• Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. American Journal of Human Genetics 80:69-75, 2007. [Article]
  
  
• Wheeler FC, Fernandez L, Carlson KM, Wolf MJ, Rockman HA, Marchuk DA. QTL mapping in a mouse model of cardiomyopathy reveals an ancestral allele affecting heart function and survival. Mammalian Genome 16:414-423, 2005. [Article]
  
  
• Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, Marchuk DA. Loss of p53 sensitizes mice with a mutation in Ccm1(Krit1) to development of cerebral vascular malformations. American Journal of Pathology 165:1509-1518, 2004. [Article]

• Srinivasan S, Hanes MA, Dickens T, Porteous MEM, Oh SP, Hale LP, Marchuk DA.   A mouse model for Hereditary Hemorrhagic Telangiectasia (HHT) type 2. Human Molecular Genetics 12:473-482, 2003. [Article]

• 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. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause Type 2 Cerebral Cavernous Malformations, American Journal of Human Genetics 73:1459-1464, 2003. [Article]

• Whitehead KJ, Plummer NW, Adams JA, Marchuk DA, and Li DY. Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations.  Development, 131:1437-1448, 2004. [Article]

• Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJJ, Marchuk DA.   A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).  Lancet, 363:852-859, 2004. [Article]

• Svenson IK, Kloos MT, P. Gaskell C, Nance MA, Garbern JY, Hisanaga S, Pericak-Vance MA, Ashley-Koch AE, Marchuk DA.  Intragenic Modifiers of Hereditary Spastic Paraplegia Due to Spastin Gene Mutations. Neurogenetics, 5:157-164, 2004. [Article]

• Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, Marchuk DA.  Loss of p53 sensitizes mice with a mutation in Ccm1 (Krit1) to development of cerebral vascular malformations.  American Journal of Pathology, 165:1509-1518, 2004. [Article]

• Wheeler FC, Fernandez L, Carlson KM, Wolf MJ, Rockman HA, Marchuk DA.  QTL mapping in a mouse model of cardiomyopathy reveals an ancestral allele affecting heart function and survival.   Mammalian Genome 16:414-423, 2005. [Article]

• Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA.  CCM1 and CCM2 protein interactions in cell signaling:  implications for cerebral cavernous malformations pathogenesis. Human Molecular Genetics 14:2521-31, 2005. [Article]

• Svenson IK, Kloos MT, Jacon A, Gallione C, Marchuk DA. Sub-cellular localization of spastin:  implications for the pathogenesis of hereditary spastic paraplegia.   Neurogenetics 6:135-141, 2005, 6, (3), 135-41. [Article]

• Plummer NW, Squire TL, Srinivasan S, Huang E, Zawistowski JS, Matsunami H, Hale LP, Marchuk DA Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. Mammalian Genome, 8:119-128, 2006. [Article]