Faculty and Research

Douglas Marchuk, PhD
Professor and Vice Chair, Molecular Genetics and Microbiolgoy
Director, Duke University Program in Genetics and Genomics
bio  •  lab members  •  lab website

Representative Publications:

  • McClung JM, McCord TJ, Keum S, Johnson S, Annex BH, Marchuk DA, and Kontos CD. Skeletal muscle-specific genetic determinants contribute to the differential strain-dependent effects of hindlimb ischemia in mice. American Journal of Pathology, 180:2156-2169, 2012. [Article]

  • Lo W, Marchuk DA, Ball KL, Juhasz C, Jordan LC, Ewen JB, Comi A; and Brain Vascular Malformation Consortium National Sturge-Weber Syndrome Workgroup. Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Developmental Medicine and Child Neurology, 54:214-223, 2012. [Article]

  • McDonald DA, Shi C, Shenkar R, Stockton RA, Liu F, Ginsberg MH, Marchuk DA, and Awad IA. Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. Stroke, 43:571-574, 2012. [Article]

  • Gallione CJ, Solatycki A, Awad IA, Weber JL, and Marchuk DA. A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. Genetics in Medicine, 13:662-666, 2011. [Article]

  • McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, and Marchuk DA. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. Human Molecular Genetics, 20:211-222, 2011. [Article]

  • Ahn SH, Deshmukh H, Johnson N, Cowell LG, Rude TH, Scott WK, Nelson CL, Zaas AK, Marchuk DA, Keum S, Lamlertthon S, Sharma-Kuinkel BK, Sempowski GD, and Fowler VG Jr. Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses. PLoS Pathogens, 6:e1001088, 2010. [Article]

  • Du F, Ozdowski EF, Kotowski IK, Marchuk DA, and Sherwood NT. Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. Human Molecular Genetics, 19:1883-1896, 2010. [Article]

  • Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, and Marchuk DA. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. American Journal of Genetics, 152:333-339, 2010. [Article]
  • Keum S and Marchuk DA. A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke. Circulation and Cardiovascular Genetics, 2:591-598, 2009. [Article]
  • Wheeler FC, Tang H, Marks OA, Hadnott TN, Chu PL, Mao L, Rockman HA, and Marchuk DA. Tnni3k modifies disease progression in murine models of cardiomyopathy. PLoS Genetics, 5:e1000647, 2009. [Article]
  • Fernandez L, Marchuk DA, Moran JL, Beier DR, and Rockman HA. An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15. Mammalian Genome, 20:296-304, 2009. [Article]
  • Whitehead KJ, Chan AC, Navankasattusas S, Koh W, London NR, Ling J, Mayo AH, Drakos SG, Jones CA, Zhu W, Marchuk DA, Davis GE, and Li DY. The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. Nature Medicine, 15:177-184, 2009. [Article]
  • Akers AL, Johnson E, Steinberg GK, Zabramski JM, and Marchuk DA. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): Evidence for a two-hit mechanism of CCM pathogenesis. Human Molecular Genetics, 18:919-930, 2009. [Article]
  • Kim H, Marchuk DA, Pawlikowska L, Chen Y, Su H, Yang GY, and Young WL. Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations. Acta Neurochirurgica Supplementum, 105:199-206, 2008. Review. [Article]
  • Shenkar R, Venkatasubramanian PN, Wyrwicz AM, Zhao JC, Shi C, Akers A, Marchuk DA, and Awad IA. Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models. Neurosurgery, 63:790-797, 2008. [Article]
  • Hao Q, Su H, Marchuk DA, Rola R, Wang Y, Liu W, Young WL, and Yang GY. Increased tissue perfusion promotes capillary dysplasia in the ALK1-deficient mouse brain following VEGF stimulation. American Journal of Physiology - Heart and Circulatory Physiology, 295:H2250-6, 2008. [Article]
  • Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori CL, Patrosso MC, Zuffardi O, Ciccodicola A, Marchuk DA, and Squitieri F. ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. Neuroscience, 155:345-349, 2008. [Article]
  • Dokun AO, Keum S, Hazarika S, Yongun L, Lamonte GM, Wheeler F, Marchuk DA, and 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, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, and Gianfrancesco F. Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics, 9:25-31, 2008. [Article]
  • Salzler HR, Griffiths R, Ruiz P, Chi L, Frey C, Marchuk DA, Rockman HA, and Le TH. Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus. Kidney International, 72:1226-1232, 2007. [Article]
  • Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, and Squitieri F. Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. American Journal of Medical Genetics Neuropsychiatric Genetics, 144B:691-695, 2007. [Article]
  • Young WL, Kwok PY, Pawlikowska L, Lawton MT, Kim H, Hysi PG, and Marchuk DA. Arteriovenous malformation. Journal of Neurosurgery, 106:731-732, 2007. [Article]
  • Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, and Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. American Journal of Human Genetics, 80:69-75, 2007. [Article]
  • Carlson KM, Yamaga KM, Reinker KA, Hsia YE, Carpenter C, Abe LM, Perry AK, Person DA, Marchuk DA, and Raney EM. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. Journal of Rheumatology, 33:1133-1136, 2006. [Article]
  • Shianna KV, Marchuk DA, and Strand MK. Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase. Mitochondrion, 6:94-101, 2006. [Article]
  • Gallione CJ, Richards JA, Letteboer TG, Rushlow D, Prigoda NL, Leedom TP, Ganguly A, Castells A, Ploos van Amstel JK, Westermann CJ, Pyeritz RE, and Marchuk DA. SMAD4 mutations found in unselected HHT patients. J Med Genet. 43:793-797, 2006. [Article]

  • Plummer NW, Squire TL, Srinivasan S, Huang E, Zawistowski JS, Matsunami H, Hale LP, and Marchuk DA. Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. Mammalian Genome, 8:119-128, 2006. [Article]  
  • Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, and Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: Potential for a fourth CCM locus. Human Mutations, 27:118, 2006. [Article]

  • Plummer NW, Zawistowski JS, and Marchuk DA. Genetics of cerebral cavernous malformations. Current Neurology and Neuroscience Reports, 5:391-396, 2005. Review. [Article]

  • Wheeler FC, Fernandez L, Carlson KM, Wolf MJ, Rockman HA, and 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, and Marchuk DA. CCM1 and CCM2 protein interactions in cell signaling:  implications for cerebral cavernous malformations pathogenesis. Human Molecular Genetics, 14:2521-2531, 2005. [Article]

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

  • Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, and 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]

  • 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, and 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, and 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, and 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, and 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, and 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]