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Items: 1 to 50 of 154

1.

Novel Neuroprotective Loci Modulating Ischemic Stroke Volume in Wild-Derived Inbred Mouse Strains.

Lee HK, Widmayer SJ, Huang MN, Aylor DL, Marchuk DA.

Genetics. 2019 Sep 5. pii: genetics.302555.2019. doi: 10.1534/genetics.119.302555. [Epub ahead of print]

2.

A Brain-Targeted Orally Available ROCK2 Inhibitor Benefits Mild and Aggressive Cavernous Angioma Disease.

McKerracher L, Shenkar R, Abbinanti M, Cao Y, Peiper A, Liao JK, Lightle R, Moore T, Hobson N, Gallione C, Ruschel J, Koskimäki J, Girard R, Rosen K, Marchuk DA, Awad IA.

Transl Stroke Res. 2019 Aug 24. doi: 10.1007/s12975-019-00725-8. [Epub ahead of print]

PMID:
31446620
3.

Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations.

Koskimäki J, Zhang D, Li Y, Saadat L, Moore T, Lightle R, Polster SP, Carrión-Penagos J, Lyne SB, Zeineddine HA, Shi C, Shenkar R, Romanos S, Avner K, Srinath A, Shen L, Detter MR, Snellings D, Cao Y, Lopez-Ramirez MA, Fonseca G, Tang AT, Faber P, Andrade J, Ginsberg M, Kahn ML, Marchuk DA, Girard R, Awad IA.

Acta Neuropathol Commun. 2019 Aug 19;7(1):132. doi: 10.1186/s40478-019-0789-0.

4.

ATTRACT.

Georgieva PB, Marchuk DA, Gerhardt H; Leducq ATTRACT Consortium*.

Circ Res. 2019 Jul 19;125(3):262-264. doi: 10.1161/CIRCRESAHA.119.315198. Epub 2019 Jul 18. No abstract available.

PMID:
31318652
5.

Biomarkers of cavernous angioma with symptomatic hemorrhage.

Lyne SB, Girard R, Koskimäki J, Zeineddine HA, Zhang D, Cao Y, Li Y, Stadnik A, Moore T, Lightle R, Shi C, Shenkar R, Carrión-Penagos J, Polster SP, Romanos S, Akers A, Lopez-Ramirez M, Whitehead KJ, Kahn ML, Ginsberg MH, Marchuk DA, Awad IA.

JCI Insight. 2019 Jun 20;4(12). pii: 128577. doi: 10.1172/jci.insight.128577. eCollection 2019 Jun 20.

6.

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Day AM, McCulloch CE, Hammill AM, Juhász C, Lo WD, Pinto AL, Miles DK, Fisher BJ, Ball KL, Wilfong AA, Levin AV, Thau AJ, Comi AM; National Institute of Health Sponsor: Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group, Koenig JI, Lawton MT, Marchuk DA, Moses MA, Freedman SF, Pevsner J.

Pediatr Neurol. 2019 Jul;96:30-36. doi: 10.1016/j.pediatrneurol.2018.12.002. Epub 2018 Dec 20.

PMID:
30853154
7.

Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes.

Koskimäki J, Girard R, Li Y, Saadat L, Zeineddine HA, Lightle R, Moore T, Lyne S, Avner K, Shenkar R, Cao Y, Shi C, Polster SP, Zhang D, Carrión-Penagos J, Romanos S, Fonseca G, Lopez-Ramirez MA, Chapman EM, Popiel E, Tang AT, Akers A, Faber P, Andrade J, Ginsberg M, Derry WB, Kahn ML, Marchuk DA, Awad IA.

JCI Insight. 2019 Feb 7;4(3). pii: 126167. doi: 10.1172/jci.insight.126167. [Epub ahead of print]

8.

Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells.

Detter MR, Snellings DA, Marchuk DA.

Circ Res. 2018 Oct 26;123(10):1143-1151. doi: 10.1161/CIRCRESAHA.118.313970.

PMID:
30359189
9.

Phenotypic characterization of murine models of cerebral cavernous malformations.

Zeineddine HA, Girard R, Saadat L, Shen L, Lightle R, Moore T, Cao Y, Hobson N, Shenkar R, Avner K, Chaudager K, Koskimäki J, Polster SP, Fam MD, Shi C, Lopez-Ramirez MA, Tang AT, Gallione C, Kahn ML, Ginsberg M, Marchuk DA, Awad IA.

Lab Invest. 2019 Mar;99(3):319-330. doi: 10.1038/s41374-018-0030-y. Epub 2018 Jun 26.

10.

Neuronal IL-4Rα modulates neuronal apoptosis and cell viability during the acute phases of cerebral ischemia.

Lee HK, Koh S, Lo DC, Marchuk DA.

FEBS J. 2018 Aug;285(15):2785-2798. doi: 10.1111/febs.14498. Epub 2018 May 24.

11.

BAG3 (Bcl-2-Associated Athanogene-3) Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy.

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.

Circulation. 2017 Jul 18;136(3):281-296. doi: 10.1161/CIRCULATIONAHA.116.024873. Epub 2017 Apr 25.

12.

RhoA Kinase Inhibition With Fasudil Versus Simvastatin in Murine Models of Cerebral Cavernous Malformations.

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.

Stroke. 2017 Jan;48(1):187-194. doi: 10.1161/STROKEAHA.116.015013. Epub 2016 Nov 22.

13.

The pathobiology of vascular malformations: insights from human and model organism genetics.

Wetzel-Strong SE, Detter MR, Marchuk DA.

J Pathol. 2017 Jan;241(2):281-293. doi: 10.1002/path.4844. Epub 2016 Dec 4. Review.

14.

Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume.

Lee HK, Keum S, Sheng H, Warner DS, Lo DC, Marchuk DA.

J Clin Invest. 2016 Aug 1;126(8):2827-38. doi: 10.1172/JCI84491. Epub 2016 Jul 11.

15.

Micro-computed tomography in murine models of cerebral cavernous malformations as a paradigm for brain disease.

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.

J Neurosci Methods. 2016 Sep 15;271:14-24. doi: 10.1016/j.jneumeth.2016.06.021. Epub 2016 Jun 23.

16.

B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models.

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.

J Neuroimmune Pharmacol. 2016 Jun;11(2):369-77. doi: 10.1007/s11481-016-9670-0. Epub 2016 Apr 16.

17.

ADAM12: a genetic modifier of preclinical peripheral arterial disease.

Dokun AO, Chen L, Okutsu M, Farber CR, Hazarika S, Jones WS, Craig D, Marchuk DA, Lye RJ, Shah SH, Annex BH.

Am J Physiol Heart Circ Physiol. 2015 Sep;309(5):H790-803. doi: 10.1152/ajpheart.00803.2014. Epub 2015 Jul 10.

18.

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.

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.

Genet Med. 2015 Mar;17(3):188-196. doi: 10.1038/gim.2014.97. Epub 2014 Aug 14.

19.

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

McDonald DA, Shi C, Shenkar R, Gallione CJ, Akers AL, Li S, De Castro N, Berg MJ, Corcoran DL, Awad IA, Marchuk DA.

Hum Mol Genet. 2014 Aug 15;23(16):4357-70. doi: 10.1093/hmg/ddu153. Epub 2014 Apr 3.

20.
21.

EndoU is a novel regulator of AICD during peripheral B cell selection.

Poe JC, Kountikov EI, Lykken JM, Natarajan A, Marchuk DA, Tedder TF.

J Exp Med. 2014 Jan 13;211(1):57-69. doi: 10.1084/jem.20130648. Epub 2013 Dec 16.

22.

Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke.

Keum S, Lee HK, Chu PL, Kan MJ, Huang MN, Gallione CJ, Gunn MD, Lo DC, Marchuk DA.

PLoS Genet. 2013;9(10):e1003807. doi: 10.1371/journal.pgen.1003807. Epub 2013 Oct 10.

23.

A needle in a haystack: Sturge-Weber syndrome gene discovery.

Comi AM, Marchuk DA, Pevsner J.

Pediatr Neurol. 2013 Dec;49(6):391-2. doi: 10.1016/j.pediatrneurol.2013.07.009. Epub 2013 Sep 26. No abstract available.

PMID:
24075845
24.

A novel genetic locus modulates infarct volume independently of the extent of collateral circulation.

Chu PL, Keum S, Marchuk DA.

Physiol Genomics. 2013 Sep 3;45(17):751-63. doi: 10.1152/physiolgenomics.00063.2013. Epub 2013 Jun 25.

25.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J.

N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8.

26.

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

Akers AL, Ball KL, Clancy M, Comi AM, Faughnan ME, Gopal-Srivastava R, Jacobs TP, Kim H, Krischer J, Marchuk DA, McCulloch CE, Morrison L, Moses M, Moy CS, Pawlikowska L, Young WL.

J Rare Disord. 2013 Apr 1;1(1):5.

27.

Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction.

Lodder EM, Scicluna BP, Milano A, Sun AY, Tang H, Remme CA, Moerland PD, Tanck MW, Pitt GS, Marchuk DA, Bezzina CR.

PLoS Genet. 2012;8(12):e1003113. doi: 10.1371/journal.pgen.1003113. Epub 2012 Dec 6.

28.

Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction.

Tang H, Xiao K, Mao L, Rockman HA, Marchuk DA.

J Mol Cell Cardiol. 2013 Jan;54:101-11. doi: 10.1016/j.yjmcc.2012.10.004. Epub 2012 Oct 16.

29.

Skeletal muscle-specific genetic determinants contribute to the differential strain-dependent effects of hindlimb ischemia in mice.

McClung JM, McCord TJ, Keum S, Johnson S, Annex BH, Marchuk DA, Kontos CD.

Am J Pathol. 2012 May;180(5):2156-69. doi: 10.1016/j.ajpath.2012.01.032. Epub 2012 Mar 21.

30.

Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement.

Lo W, Marchuk DA, Ball KL, Juhász C, Jordan LC, Ewen JB, Comi A; Brain Vascular Malformation Consortium National Sturge-Weber Syndrome Workgroup.

Dev Med Child Neurol. 2012 Mar;54(3):214-23. doi: 10.1111/j.1469-8749.2011.04169.x. Epub 2011 Dec 23. Review. Erratum in: Dev Med Child Neurol. 2012 Oct;54(10):957. multiple investigator names added.

31.

Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease.

McDonald DA, Shi C, Shenkar R, Stockton RA, Liu F, Ginsberg MH, Marchuk DA, Awad IA.

Stroke. 2012 Feb;43(2):571-4. doi: 10.1161/STROKEAHA.111.625467. Epub 2011 Oct 27.

32.

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.

Gallione CJ, Solatycki A, Awad IA, Weber JL, Marchuk DA.

Genet Med. 2011 Jul;13(7):662-6. doi: 10.1097/GIM.0b013e318211ff8b.

33.

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, Marchuk DA.

Hum Mol Genet. 2011 Jan 15;20(2):211-22. doi: 10.1093/hmg/ddq433. Epub 2010 Oct 11.

34.

Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses.

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, Fowler VG Jr.

PLoS Pathog. 2010 Sep 2;6(9):e1001088. doi: 10.1371/journal.ppat.1001088.

35.

Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.

Du F, Ozdowski EF, Kotowski IK, Marchuk DA, Sherwood NT.

Hum Mol Genet. 2010 May 15;19(10):1883-96. doi: 10.1093/hmg/ddq064. Epub 2010 Feb 13.

36.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

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, Marchuk DA.

Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.

PMID:
20101697
37.

A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke.

Keum S, Marchuk DA.

Circ Cardiovasc Genet. 2009 Dec;2(6):591-8. doi: 10.1161/CIRCGENETICS.109.883231. Epub 2009 Oct 19.

38.

Tnni3k modifies disease progression in murine models of cardiomyopathy.

Wheeler FC, Tang H, Marks OA, Hadnott TN, Chu PL, Mao L, Rockman HA, Marchuk DA.

PLoS Genet. 2009 Sep;5(9):e1000647. doi: 10.1371/journal.pgen.1000647. Epub 2009 Sep 18.

39.

An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.

Fernandez L, Marchuk DA, Moran JL, Beier DR, Rockman HA.

Mamm Genome. 2009 May;20(5):296-304. doi: 10.1007/s00335-009-9184-7. Epub 2009 Apr 23.

40.

The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases.

Whitehead KJ, Chan AC, Navankasattusas S, Koh W, London NR, Ling J, Mayo AH, Drakos SG, Jones CA, Zhu W, Marchuk DA, Davis GE, Li DY.

Nat Med. 2009 Feb;15(2):177-84. doi: 10.1038/nm.1911. Epub 2009 Jan 18. Erratum in: Nat Med. 2009 Apr;15(4):462. Jones, Christopher A [added]; Zhu, Weiquan [added].

41.

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA.

Hum Mol Genet. 2009 Mar 1;18(5):919-30. doi: 10.1093/hmg/ddn430. Epub 2008 Dec 16.

42.

Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations.

Kim H, Marchuk DA, Pawlikowska L, Chen Y, Su H, Yang GY, Young WL.

Acta Neurochir Suppl. 2008;105:199-206. Review.

43.

Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models.

Shenkar R, Venkatasubramanian PN, Wyrwicz AM, Zhao JC, Shi C, Akers A, Marchuk DA, Awad IA.

Neurosurgery. 2008 Oct;63(4):790-7; discussion 797-8. doi: 10.1227/01.NEU.0000315862.24920.49.

44.

Increased tissue perfusion promotes capillary dysplasia in the ALK1-deficient mouse brain following VEGF stimulation.

Hao Q, Su H, Marchuk DA, Rola R, Wang Y, Liu W, Young WL, Yang GY.

Am J Physiol Heart Circ Physiol. 2008 Dec;295(6):H2250-6. doi: 10.1152/ajpheart.00083.2008. Epub 2008 Oct 3.

45.

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori CL, Patrosso MC, Zuffardi O, Ciccodicola A, Marchuk DA, Squitieri F.

Neuroscience. 2008 Aug 13;155(2):345-9. doi: 10.1016/j.neuroscience.2008.05.030. Epub 2008 Jul 16.

PMID:
18632209
46.

A quantitative trait locus (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss after surgical hindlimb ischemia.

Dokun AO, Keum S, Hazarika S, Li Y, Lamonte GM, Wheeler F, Marchuk DA, Annex BH.

Circulation. 2008 Mar 4;117(9):1207-15. doi: 10.1161/CIRCULATIONAHA.107.736447. Epub 2008 Feb 19.

47.

Childhood socioeconomic status and serotonin transporter gene polymorphism enhance cardiovascular reactivity to mental stress.

Williams RB, Marchuk DA, Siegler IC, Barefoot JC, Helms MJ, Brummett BH, Surwit RS, Lane JD, Kuhn CM, Gadde KM, Ashley-Koch A, Svenson IK, Schanberg SM.

Psychosom Med. 2008 Jan;70(1):32-9. Epub 2007 Dec 24.

PMID:
18158371
48.

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.

Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F.

Neurogenetics. 2008 Feb;9(1):25-31. Epub 2007 Dec 1.

PMID:
18060436
49.

Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus.

Salzler HR, Griffiths R, Ruiz P, Chi L, Frey C, Marchuk DA, Rockman HA, Le TH.

Kidney Int. 2007 Nov;72(10):1226-32. Epub 2007 Sep 12.

50.

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jul 5;144B(5):691-5.

PMID:
17440989

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