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Results: 1 to 20 of 138

1.

ADAM12: A Genetic Modifier of Pre-clinical 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 Jul 10:ajpheart.00803.2014. doi: 10.1152/ajpheart.00803.2014. [Epub ahead of print]

PMID:
26163448
2.

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, Marcondes de Souza J, Lee C, Marchuk DA, Awad IA.

Genet Med. 2015 Mar;17(3):188-96. doi: 10.1038/gim.2014.97. Epub 2014 Aug 14.

PMID:
25122144
3.

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.

PMID:
24698976
4.
5.

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.

6.

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.

7.

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
8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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
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