Douglas Marchuk, PhD – Publications

James B. Duke Professor
Director, Division of Human Genetics

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research  •  lab members  •  publications  • website

McClung JM, McCord TJ, Ryan TE, Schmidt CA, Green TD, Southerland KW, Reinardy JL, Mueller SB, Venkatraman TN, Lascola CD, Keum S, Marchuk DA, Spangenburg EE, Dokun A, Annex BH, Kontos CD.BAG3 (Bcl-2-Associated Athanogene-3) Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy. Circulation. 2017 Jul 18;136(3):281-296. doi: 10.1161/CIRCULATIONAHA.116.024873. Epub 2017 Apr 25.

Wetzel-Strong SE, Detter MR, Marchuk DA.The pathobiology of vascular malformations: insights from human and model organism genetics. J Pathol. 2017 Jan;241(2):281-293. doi: 10.1002/path.4844. Epub 2016 Dec 4. Review. PMID: 27859310

Girard R, Zeineddine HA, Orsbon C, Tan H, Moore T, Hobson N, Shenkar R, Lightle R, Shi C, Fam MD, Cao Y, Shen L, Neander AI, Rorrer A, Gallione C, Tang AT, Kahn ML, Marchuk DA, Luo ZX, Awad IA.Micro-computed tomography in murine models of cerebral cavernous malformations as a paradigm for brain disease. J Neurosci Methods. 2016 Sep 15;271:14-24. doi: 10.1016/j.jneumeth.2016.06.021. Epub 2016 Jun 23. PMID: 27345427

Shi C, Shenkar R, Zeineddine HA, Girard R, Fam MD, Austin C, Moore T, Lightle R, Zhang L, Wu M, Cao Y, Gunel M, Louvi A, Rorrer A, Gallione C, Marchuk DA, Awad IA.B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models. J Neuroimmune Pharmacol. 2016 Jun;11(2):369-77. doi: 10.1007/s11481-016-9670-0. Epub 2016 Apr 16. PMID: 27086141

Dokun AO, Chen L, Okutsu M, Farber CR, Hazarika S, Jones WS, Craig D, Marchuk DA, Lye RJ, Shah SH, Annex BH.ADAM12: a genetic modifier of preclinical peripheral arterial disease.
Am J Physiol Heart Circ Physiol. 2015 Sep;309(5):H790-803. doi: 10.1152/ajpheart.00803.2014. Epub 2015 Jul 10. PMID: 26163448

Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel M, Min W, De Souza JM, Lee C, Marchuk DA, Awad IA.Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.
Genet Med. 2015 Mar;17(3):188-196. doi: 10.1038/gim.2014.97. Epub 2014 Aug 14. PMID: 25122144

Shen F, Degos V, Chu PL, Han Z, Westbroek EM, Choi EJ, Marchuk D, Kim H, Lawton MT, Maze M, Young WL, Su H.Endoglin deficiency impairs stroke recovery. Stroke. 2014 Jul;45(7):2101-6. doi: 10.1161/STROKEAHA.114.005115. Epub 2014 May 29. PMID: 24876084

Lee, HK, Keum S, Sheng H, Warner DS, Lo DC and Marchuk DA. Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume. Journal of Clinical Investigation. 126(8);2827-38, 2016 PMCID: PMC4966306

Shenkar R, Shi C, Austin C, Moore T, Lightle R, Cao Y, Zhang L, Wu M, Zeineddine HA, Girard R, McDonald DA, Rorrer A, Gallione C, Pytel P, Liao JK, Marchuk DA, Awad IA. RhoA Kinase Inhibition with Fasudil versus Simvastatin in Murine Models of Cerebral Cavernous Malformations. Stroke 48:187-194, 2017. PMCID: PMC5183488.

McDonald DA, Shi C, Shenkar R, Gallione CJ, Akers AL, Li S, de Castro N, Berg MJ, Corcoran DL, Awad IA, and Marchuk DA. Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: Evidence for a common biochemical pathway for CCM pathogenesis. Human Molecular Genetics 23:4357-70, 2014. [Article]

Tang H, Xiao K, Mao L, Rockman HA, Marchuk DA. Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction. J Mol Cell Cardiol., 54:101-11, 2013. [Article]

Chu PL, Keum S, Marchuk DA. A novel genetic locus modulates infarct volume independent of the extent of collateral circulation. Physiol Genomics 45:751-63, 2013. [Article]

Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge Weber syndrome and port wine stains caused by somatic mutation in GNAQ. New England Journal of Medicine, 368:1971-9, 2013. [Article]

Keum S, Lee HK, Chu PL, Kan MJ, Huang MN, Gallione, CJ, Gunn MD, Lo DC, Marchuk DA. Natural genetic variation of integrin alpha L, Itgal, modulates ischemic brain injury in stroke. PLoS Genetics, 9:e1003807, 2013. [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 13:662-6, 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]

 

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