Elena MacFarlane

Assistant Professor

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Research Output 2002 2017

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase

Ziegler, S. G., Ferreira, C. R., MacFarlane, E., Riddle, R., Tomlinson, R. E., Chew, E. Y., Martin, L., Ma, C. T., Sergienko, E., Pinkerton, A. B., Millán, J. L., Gahl, W. A. & Dietz, H. C., Jun 7 2017, In : Science Translational Medicine. 9, 393, eaal1669.

Research output: Contribution to journalArticle

Pseudoxanthoma Elasticum
Alkaline Phosphatase
Adenosine Triphosphate
Gene Targeting
Liver Failure

TGF-β family signaling in connective tissue and skeletal diseases

MacFarlane, E., Haupt, J., Dietz, H. C. & Shore, E. M., Nov 1 2017, In : Cold Spring Harbor perspectives in biology. 9, 11, a022269.

Research output: Contribution to journalReview article

Connective Tissue Diseases
Transforming Growth Factor beta
Connective Tissue
Growth Differentiation Factors

Pathophysiology of aortic aneurysm: Insights from human genetics and mouse models

Wilson, N. K., Gould, R. A. & MacFarlane, E., Dec 1 2016, In : Pharmacogenomics. 17, 18, p. 2071-2080 10 p.

Research output: Contribution to journalReview article

Thoracic Aortic Aneurysm
Aortic Aneurysm
Genetic Models
Medical Genetics
Angiotensin II

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

Bertoli-Avella, A. M., Gillis, E., Morisaki, H., Verhagen, J. M. A., De Graaf, B. M., Van De Beek, G., MacFarlane, E., Kruithof, B. P. T., Venselaar, H., Myers, L. A., Laga, S., Doyle, A. J., Oswald, G., Van Cappellen, G. W. A., Yamanaka, I., Van Der Helm, R. M., Beverloo, B., De Klein, A., Pardo, L., Lammens, M. & 25 othersEvers, C., Devriendt, K., Dumoulein, M., Timmermans, J., Bruggenwirth, H. T., Verheijen, F., Rodrigus, I., Baynam, G., Kempers, M., Saenen, J., Van Craenenbroeck, E. M., Minatoya, K., Matsukawa, R., Tsukube, T., Kubo, N., Hofstra, R., Goumans, M. J., Bekkers, J. A., Roos-Hesselink, J. W., Van De Laar, I. M. B. H., Dietz, H. C., Van Laer, L., Morisaki, T., Wessels, M. W. & Loeys, B. L., 2015, In : Journal of the American College of Cardiology. 65, 13, p. 1324-1336 13 p.

Research output: Contribution to journalArticle

Transforming Growth Factor beta3
Aortic Aneurysm
Thoracic Aortic Aneurysm
Transforming Growth Factor beta

Angiotensin II-dependent TGF-Â signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

MacFarlane, E., Loch, D. C., Habashi, J., Calderon, J. F., Chen, Y., Bedja, D., Van Erp, C., Gerber, E. E., Parker, S. J., Sauls, K., Judge, D. P., Cooke, S. K., Lindsay, M. E., Rouf, R., Myers, L., Colette, M., Kent, K. C., Norris, R. A., Huso, D. L. & Dietz, H. C., Jan 2 2014, In : Journal of Clinical Investigation. 124, 1, p. 448-460 13 p.

Research output: Contribution to journalArticle

Loeys-Dietz Syndrome
Angiotensin II
Blood Vessels