RECENT PUBLICATIONS
Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. Bowen CJ, Calderón Giadrosic JF, Burger Z, et al. J Clin Invest. 2020 Feb 3;130(2):686-698. doi: 10.1172/JCI130730.PMID: 31639107
Calpain 9 as a therapeutic target in TGFβ-induced mesenchymal transition and fibrosis. Kim DH, Beckett JD, Nagpal V, et al. Sci Transl Med. 2019 Jul 17;11(501):eaau2814. doi: 10.1126/scitranslmed.aau2814.PMID: 31316008
Epigenetic activation and memory at a TGFB2 enhancer in systemic sclerosis. Shin JY, Beckett JD, Bagirzadeh R, et al. Sci Transl Med. 2019 Jun 19;11(497):eaaw0790. doi: 10.1126/scitranslmed.aaw0790.PMID: 31217334
Oxytocin antagonism prevents pregnancy-associated aortic dissection in a mouse model of Marfan syndrome. Habashi JP, MacFarlane EG, Bagirzadeh R, et al. Sci Transl Med. 2019 May 1;11(490):eaat4822. doi: 10.1126/scitranslmed.aat4822.PMID: 31043570
Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome. MacFarlane EG, Parker SJ, Shin JY, et al. J Clin Invest. 2019 Feb 1;129(2):659-675. doi: 10.1172/JCI123547. Epub 2019 Jan 7.PMID: 30614814
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Gould RA, Aziz H, Woods CE, et al. Nat Genet. 2019 Jan;51(1):42-50. doi: 10.1038/s41588-018-0265-y. Epub 2018 Nov 19.PMID: 30455415
Nonmyocyte ERK1/2 signaling contributes to load-induced cardiomyopathy in Marfan mice. Rouf R, MacFarlane EG, Takimoto E, et al. JCI Insight. 2017 Aug 3;2(15):e91588. doi: 10.1172/jci.insight.91588. eCollection 2017 Aug 3.PMID: 28768908
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Ziegler SG, Ferreira CR, MacFarlane EG, et al. Sci Transl Med. 2017 Jun 7;9(393):eaal1669. doi: 10.1126/scitranslmed.aal1669.PMID: 28592560
A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. Doyle JJ, Doyle AJ, Wilson NK, et al.. Elife. 2015 Oct 27;4:e08648. doi: 10.7554/eLife.08648.PMID: 26506064
Gallo EM, Loch DC, Habashi JP, et al. Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest. 2014;124(1):448-460. doi:10.1172/JCI69666
Gerber EE, Gallo EM, Fontana SC, et al. Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature. 2013;503(7474):126-130. doi:10.1038/nature12614
Doyle AJ, Doyle JJ, Bessling SL, et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012;44(11):1249-1254. doi:10.1038/ng.2421
Frischmeyer-Guerrerio PA, Montgomery RA, Warren DS, et al. Perturbation of thymocyte development in nonsense-mediated decay (NMD)-deficient mice. Proc Natl Acad Sci U S A. 2011;108(26):10638-10643. doi:10.1073/pnas.1019352108
Loeys BL, Gerber EE, Riegert-Johnson D, et al. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010;2(23):23ra20. doi:10.1126/scitranslmed.3000488
Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC 3rd. Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med. 2008;358(26):2787-2795. doi:10.1056/NEJMoa0706585
Cohn RD, van Erp C, Habashi JP, et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states [published correction appears in Nat Med. 2007 Apr;13(4):511]. Nat Med. 2007;13(2):204-210. doi:10.1038/nm1536
Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(8):788-798. doi:10.1056/NEJMoa055695
Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312(5770):117-121. doi:10.1126/science.1124287
Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37(3):275-281. doi:10.1038/ng1511
Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise [published correction appears in Nat Genet. 2004 Nov;36(11):1238]. Nat Genet. 2004;36(10):1073-1078. doi:10.1038/ng1429
Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33(3):407-411. doi:10.1038/ng1116
Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science. 2002;295(5563):2258-2261. doi:10.1126/science.1067338
Mendell JT, ap Rhys CM, Dietz HC. Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science. 2002;298(5592):419-422. doi:10.1126/science.1074428
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