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Jeffrey Robbins, PhD Director and Endowed Chair, Molecular Cardiovascular Biology
Director and Endowed Chair, Molecular Cardiovascular Biology
Executive Co-Director, Heart Institute
Associate Chair, Children's Hospital Research Foundation
Professor, UC Department of Pediatrics
Structure function relationships for the contractile proteins; cardiac-specific gene manipulation in transgenic rabbits; the contractile protein myosin, and human heart failure; molecular studies of human valve disease
Visit the Robbins Lab.
Maloyan A, Sayegh J, Osinska H, Chua BH, Robbins J. Manipulation of death pathways in desmin-related cardiomyopathy. Circ Res. 2010 May 14;106(9):1524-32.
Terrell D, Robbins J. Protein conformation-based disease: getting to the heart of the matter. Annu Rev Physiol. 2010 Mar 17;72:15-7.
Maillet M, Davis J, Auger-Messier M, York A, Osinska H, Piquereau J, Lorenz JN, Robbins J, Ventura-Clapier R, Molkentin JD. Heart-specific deletion of CnB1 reveals multiple mechanisms whereby calcineurin regulates cardiac growth and function. J Biol Chem. 2010 Feb 26;285(9):6716-24.
Nakayama H, Bodi I, Correll RN, Chen X, Lorenz J, Houser SR, Robbins J, Schwartz A, Molkentin JD. alpha1G-dependent T-type Ca2+ current antagonizes cardiac hypertrophy through a NOS3-dependent mechanism in mice. J Clin Invest. 2009 Dec;119(12):3787-96. doi: 10.1172/JCI39724.
James J, Hor K, Moga MA, Martin LA, Robbins J. Effects of myosin heavy chain manipulation in experimental heart failure. J Mol Cell Cardiol. 2010 May;48(5):999-1006.
Heineke J, Wollert KC, Osinska H, Sargent MA, York AJ, Robbins J, Molkentin JD. Calcineurin protects the heart in a murine model of dilated cardiomyopathy. J Mol Cell Cardiol. 2010 Jun;48(6):1080-7.
Nakamura T, Gulick J, Pratt R, Robbins J. Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15436-41.
Nakamura T, Gulick J, Colbert MC, Robbins J. Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development. Proc Natl Acad Sci U S A. 2009 Jul 7;106(27):11270-5.
Gulick J, Robbins J. Cell-type-specific transgenesis in the mouse. Methods Mol Biol. 2009;561:91-104.
Nicolaou P, Rodriguez P, Ren X, Zhou X, Qian J, Sadayappan S, Mitton B, Pathak A, Robbins J, Hajjar RJ, Jones K, Kranias EG. Inducible expression of active protein phosphatase-1 inhibitor-1 enhances basal cardiac function and protects against ischemia/reperfusion injury. Circ Res. 2009 Apr 24;104(8):1012-20.
Cardiac Signaling in the Normal and Abnormal Heart. Principal Investigator. National Heart, Lung, and Blood Institute. Jun 2002 - Nov 2012. #P01HL69779.
Cardiomyocyte Toxicity and Heart Failure in Desmin Related Cardiomyopathy. Principal Investigator. National Heart, Lung, and Blood Institute. Jan 2008 - Dec 2012. #R01 HL087862.
Burns C. Blaxall, PhD, FAHA Director of Translational Science, Heart Institute
is interested in understanding the molecular mechanisms associated with the development and progression of heart failure. We are particularly interested in developing novel heart failure therapeutics targeting myocardial function and fibrosis. To this end, we also seek to understand the pathologic role of cardiac myocyte and non-myocyte (i.e.. fibroblast) intercellular communication.
Director of Translational Science, Heart Institute
Molecular and signaling mechanisms of heart failure; cardiac fibrosis; drug and therapeutic discovery
Dr. Burns C. Blaxall has focused his entire career on understanding the molecular mechanisms of heart failure. He received his PhD in Pharmacology from the University of Colorado Health Sciences Center, and postdoctoral training at Duke University Medical Center. He then rose through the faculty ranks at the University of Rochester Medical Center and the Aab Cardiovascular Research Institute, where he also directed the Howard Hughes Medical Institute Med-into-Grad Fellowship in Cardiovascular Science.
In 2012, he was recruited to the Heart Institute of Cincinnati Children’s Hospital Medical Center, where he is director of Translational Science. Dr. Blaxall has received many academic honors, including the Early Career Investigator Award from the American Heart Association (AHA), the Outstanding Achievement Award from the Founder’s AHA Affiliate, the Merit Award for Research Achievement from Mended Hearts, and election as Fellow of the AHA.
PhD: University of Colorado HSC, Denver, CO, 1999.
Fellowship: Duke University Medical Center, Durham, NC.
Martin ML, Blaxall BC. Cardiac intercellular communication: are myocytes and fibroblasts fair-weather friends? J Cardiovasc Transl Res. 2012.
Jaffré F, Friedman AE, Hu Z-Y, Mackman N and Blaxall BC. Beta-adrenergic receptor stimulation transactivates Protease-Activated Receptor 1 via MMP-13 in heart. Circulation. 2012;125(24):2993-3003.
Kamal FA, Smrcka AV, Blaxall BC. Taking the heart failure battle inside the cell: Small molecule targeting of Gβγ subunits. J Mol Cell Cardiol. 2011;51(4):462-7.
Ram R, Mickelsen DM, Theodoropoulos C, Blaxall BC. New approaches in small animal echocardiography: imaging the sounds of silence. Amer J Pathol Heart Circ Physiol. 2011;301(5):H1765-80.
Belmonte S, Blaxall BC. G-protein coupled receptor kinases as therapeutic targets in cardiovascular disease. Circ Res. 2011;109(3):309-19.
Aguilar F, Casey LM, Belmonte S, Noujaim SF, Maekawa N, Dunaevsky O, Protak TL, Noujaim S, Jalife J, Berk BC, Gertler FB, Blaxall BC. Cardiac dysfunction in Mena knockout mice. Amer J Pathol Heart Circ Phys. 2011;300(5):H1841-52.
Casey LM, Pistner AR, Belmonte S, Jaffre F, Migdalovic D, Stolpnik O, Nwakanma F, Vorobiof G, Dunaevsky O, Smrcka AV, Blaxall BC. Small molecule targeting of G beta gamma prevents heart failure progression. Circ Res. 2010;107(4):532-9.
Jaffré F, Bonnin P, Callebert J, Debbabi H, Setola V, Doly S, Monassier L, Mettauer, Blaxall BC, Launay JM, Maroteaux L. Serotonin and angiotensin receptors in cardiac fibroblasts coregulate adrenergic-dependent cardiac hypertrophy. Circ Res. 2009;104;113-123.
Bullard TA, Protack TL, Aguilar F, Bagwe S, Massey HT, Blaxall BC. Identification of Nogo as a novel indicator of heart failure. Physiolog Genom. 2008;32(2):182-9.
R, Hampton CR, Casey LM, Bullard TA, Tencati M, Pedersen B, Andrade-Gordon P, Sayen MR, Gottlieb RA, Pohlman TH, Verrier ED, Blaxall BC, Mackman N. Par-1 in Cardiac Remodeling and Heart Failure. Circulation. 2007;116(20):2298-306.
James D. Gulick, MS Research Instructor
Instructor, UC Department of Pediatrics
Michalek AJ, Howarth JW, Gulick J, Previs MJ, Robbins J, Rosevear PR, Warshaw DM. Phosphorylation modulates the mechanical stability of the cardiac Myosin-binding protein C motif. Biophys J. 2013 Jan 22;104(2):442-52.
Bhuiyan MS, Gulick J, Osinska H, Gupta M, Robbins J. Determination of the critical residues responsible for cardiac myosin binding protein C's interactions. J Mol Cell Cardiol. 2012 Dec;53(6):838-47.
Weith AE, Previs MJ, Hoeprich GJ, Previs SB, Gulick J, Robbins J, Warshaw DM. The extent of cardiac myosin binding protein-C phosphorylation modulates actomyosin function in a graded manner. J Muscle Res Cell Motil. 2012 Dec;33(6):449-59.
Previs MJ, Previs SB, Gulick J, Robbins J, Warshaw DM. Molecular mechanics of cardiac myosin binding protein C in native thick filaments. Science. 2012 Sept 7; 337 (6099): 1215-8.
Weith A, Sadayappan S, Gulick J, Previs MJ, Vanburen P, Robbins J, Warshaw DM. Unique single molecule binding of cardiac myosin binding protein-C to actin and phosphorylation-dependent inhibition of actomyosin motility requires 17 amino acids of the motif domain. J Mol Cell Cardiol. 2012 Jan;52(1):219-27.
Tranter M, Liu Y, He S, Gulick J, Ren X, Robbins J, Jones WK, Reineke TM. In vivo delivery of nucleic acids via glycopolymer vehicles affords therapeutic infarct size reduction in vivo. Mol Ther. 2012 Mar;20(3):601-8.
Jeyaraj D, Haldar SM, Wan X, McCauley MD, Ripperger JA, Hu K, Lu Y, Eapen BL, Sharma N, Ficker E, Cutler MJ, Gulick J, Sanbe A, Robbins J, Demolombe S, Kondratov RV, Shea SA, Albrecht U, Wehrens XH, Rosenbaum DS, Jain MK. Circadian rhythms govern cardiac repolarization and arrhythmogenesis. Nature. 2012 Mar 1;483(7387):96-9.
Robert Bruce Hinton, MD Director, Cardiovascular Genetics
Director, Cardiovascular Genetics
Director, Heart Institute BioRepository (HIBR)
Associate Professor, UC Department of Pediatrics
Cardiovascular genetics; echocardiography
Valve and aorta disease using human genetics and molecular developmental biology approaches
Dr. Hinton graduated from Bucknell University with degrees in Art History and Philosophy. He earned his medical degree from the Medical University of South Carolina in Charleston SC. He completed his pediatric residency training at Memorial Health University Medical Center in Savannah GA and his pediatric cardiology fellowship at Cincinnati Children’s Hospital Medical Center. Dr. Hinton went on to pursue a postdoctoral fellowship in Cardiovascular Genetics and Molecular Cardiology at Cincinnati Children’s. He has been an attending staff member of the Division of Cardiology since 2006.
Dr. Hinton’s clinical interests relate to cardiovascular genetics and echocardiography. He is a member of the cardiovascular genetics service, and staffs the echocardiography laboratory. Dr. Hinton’s academic interests focus on translational research efforts using mouse models of human disease to identify new therapeutic targets. Dr. Hinton is a member of the American Academy of Pediatrics, the American Heart Association, the American Society of Bioethics and Humanities, and the American Society of Matrix Biology. He was elected to the Society for Pediatric Research in 2007.
Krishnamurthy VK, Opoka A, Kern CB, Guliak F, Narmoneva DA, Hinton RB. Regional Maladaptive Matrix Remodeling and Biomechanical Dysfunction in a Mouse Model of Aortic Valve Disease. Matrix Biology. 2012; 31(3):197-205. PMID: 22265892.
Kindel SJ, Miller EM, Gupta R, Cripe LH, Hinton RB, Spicer RL, Towbin JA, Ware SM. Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation. Journal of Cardiac Failure. 2012; 18(5):396-403. PMID: 22555271.
Ryan TD, Ware SM, Lucky AW, Towbin JA, Jefferies JL, Hinton RB. Left Ventricular Noncompaction Cardiomyopathy and Aortopathy in a Patient with Recessive Dystrophic Epidermolysis Bullosa. Circulation Heart Failure. 2012; 5(5):81-82. PMID: 22991407.
Georg-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte D, Hopkin RJ. Tetrasomy 15q25-qter Identified with SNP Microarray in a Patient with Multiple Anomalies including Complex Cardiovascular Malformation. American Journal of Medical Genetics. 2012; 158A(8):1971-1976. PMID: 22711292.
Hinton RB. Bicuspid Aortic Valve and Thoracic Aortic Aneurysm: Three Patient Populations, Two Disease Phenotypes, One Shared Genotype. Cardiology Research and Practice. 2012. 926975. PMID: 22970404.
Krishnamurthy VK, Guliak F, Narmoneva DA, Hinton RB. Regional structure-function relationships in mouse aortic valve tissue. J Biomech. Jan 2011;44(1):77-83.
Wirrig EE, Hinton RB, Yutzey KE. Differential expression of cartilage and bone-related proteins in pediatric and adult diseased aortic valves. J Mol Cell Cardiol. Mar 2011;50(3):561-569.
Calloway TJ, Martin LJ, Zhang X, Tandon A, Benson DW, Hinton RB. Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study. Am J Med Genet A. May 2011;155A(5):1015-1020.
Hinton RB, Yutzey KE. Heart valve structure and function in development and disease. Annu Reb Physiol. Mar 2011;73:29-46.
Martin LJ, Hinton RB, Zhang X, Cripe LH, Benson DW. Aorta measurements are heritable and influenced by bicuspid aortic valve. Frontiers in Genetics. 2011;2(61).
Angiogenesis Inhibition Therapy for Aortic Valve Disease. Principal Investigator. National Center for Research Resources (NIH/NCRR). Jul 2011-Jun 2012.
Twist1 regulation of valve progenitors. Co-Investigator. National Heart, Lung and Blood Institute (NIH/NHLBI). Jul 2010-Jun 2015.
Trial of Beta Blocker Therapy (Atenolol) vs. Angiotensin II Receptor Blocker Therapy (Losartan). Co-Investigator. National Heart, Lung and Blood Institute (NIH/NHLBI) Pediatric Heart Network. Sept 2006-Aug 2016.
Aortic root structure-function relationships in a mouse model of aortic valve disease and aortopathy. Supervisor. American Heart Association, Great Rivers Affiliate. Jul 2011-Jun 2012.
Jeanne M. James, MD Associate Professor, UC Department of Pediatrics | Director, Cardiology Fellowship Program | Director, Mouse Echocardiography Core
Associate Professor, UC Department of Pediatrics | Director, Cardiology Fellowship Program | Director, Mouse Echocardiography Core
Assistant Professor, UC Department of Pediatrics
Cardiovascular genetics, echocardiography, congenital heart disease, medical education, molecular cardiology, ventricular remodeling, cardiac hypertrophy.
Visit the James Lab.
Zaza Khuchua, PhD Research Associate Professor
research Interests are mitochondrial structure, function, biogenesis and recycling in normal and pathological heart muscle. More specifically we are interested in defects in cardiac lipid and phospholipid metabolism. We employ genetically engineered mice to model human genetic disorders.
Research Associate Professor
Mitochondrial function; structure and dynamics in cardiac cells in normal and pathological conditions; role of mitochondrial phospholipids in aerobic metabolism in heart; role of lipid molecules in cell signaling systems
Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, Kulik W, Wansapura J, Toth MJ, Strauss A, Khuchua Z. Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. J Biol Chem. 2011 Jan 14;286(2):899-908.
Acehan D, Khuchua Z, Houtkooper RH, Malhotra A, Kaufman J, Vaz FM, Ren M, Rockman HA, Stokes DL, Schlame M. Distinct effects of Tafazzin deletion in differentiated and undifferentiated mitochondria. Mitochondrion.
Tchekneva EE, Khuchua Z, Davis LS, Kadkina V, Dunn SR, Bachman S, Ishibashi K, Rinchik EM, Harris RC, Dikov MM, Breyer MD. Single amino acid substitution in aquaporin 11 causes renal failure. J Am Soc Nephrol. 2008 10:1955-64.
Marjorie Maillet, PhD Research Instructor
University of Cincinnati College of Medicine
Signaling pathways, Cellular Biology, Cardiac Hypertrophy & Heart Failure
PhD, Paris XI University, Orsay, France, 2003
Fellowship, Cincinnati Children’s Hospital, Cincinnati, Ohio
van Berlo, J. H., Maillet, M. & Molkentin, J. D. Signaling effectors underlying pathologic growth and remodeling of the heart. J Clin Invest 123, 37-45. 2013.
Maillet, M., van Berlo, J. H. & Molkentin, J. D. Molecular basis of physiological heart growth: fundamental concepts and new players. Nat Rev Mol Cell Biol 14, 38-48. 2012.
Lynch, J. M., Maillet, M., Vanhoutte, D., Schloemer, A., Sargent, M. A., Blair, N. S., Lynch, K. A., Okada, T., Aronow, B. J., Osinska, H., Prywes, R., Lorenz, J. N., Mori, K., Lawler, J., Robbins, J. & Molkentin, J. D. A thrombospondin-dependent pathway for a protective ER stress response. Cell 149, 1257-68. 2012.
Le Grand, F., Grifone, R., Mourikis, P., Houbron, C., Gigaud, C., Pujol, J., Maillet, M., Pages, G., Rudnicki, M., Tajbakhsh, S. & Maire, P. Six1 regulates stem cell repair potential and self-renewal during skeletal muscle regeneration. J Cell Biol 198, 815-32. 2012.
Drawnel, F. M., Wachten, D., Molkentin, J. D., Maillet, M., Aronsen, J. M., Swift, F., Sjaastad, I., Liu, N., Catalucci, D., Mikoshiba, K., Hisatsune, C., Okkenhaug, H., Andrews, S. R., Bootman, M. D. & Roderick, H. L. Mutual antagonism between IP(3)RII and miRNA-133a regulates calcium signals and cardiac hypertrophy. J Cell Biol 199, 783-98. 2012.
Davis, J., Maillet, M., Miano, J. M. & Molkentin, J. D. Lost in transgenesis: a user's guide for genetically manipulating the mouse in cardiac research. Circ Res 111, 761-77. 2012.
Sadayappan, S., Gulick, J., Osinska, H., Barefield, D., Cuello, F., Avkiran, M., Lasko, V. M., Lorenz, J. N., Maillet, M., Martin, J. L., Brown, J. H., Bers, D. M., Molkentin, J. D., James, J. & Robbins, J. A critical function for ser-282 in cardiac Myosin binding protein-C phosphorylation and cardiac function. Circ Res 109, 141-50. 2011.
Qian, L., Wythe, J. D., Liu, J., Cartry, J., Vogler, G., Mohapatra, B., Otway, R. T., Huang, Y., King, I. N., Maillet, M., Zheng, Y., Crawley, T., Taghli-Lamallem, O., Semsarian, C., Dunwoodie, S., Winlaw, D., Harvey, R. P., Fatkin, D., Towbin, J. A., Molkentin, J. D., Srivastava, D., Ocorr, K., Bruneau, B. G. & Bodmer, R. Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species. J Cell Biol 193, 1181-96. 2011.
Kehat I, Davis J, Tiburcy M, Accornero F, Saba-El-Leil MK, Maillet M, York AJ, Lorenz JN, Zimmermann WH, Meloche S, Molkentin JD. Extracellular signal-regulated kinases 1 and 2 regulate the balance between eccentric and concentric cardiac growth. Circ Res. 2011 Jan 21;108(2):176-83.
Nakayama H, Bodi I, Maillet M, DeSantiago J, Domeier TL, Mikoshiba K, Lorenz JN, Blatter LA, Bers DM, Molkentin JD. The IP3 receptor regulates cardiac hypertrophy in response to select stimuli. Circ Res. 2010 Sep 3;107(5):659-66
Jeffery D. Molkentin, PhD Professor | Howard Hughes Medical Institute Investigator
Professor | Howard Hughes Medical Institute Investigator
Davis J, Burr AR, Davis GF, Birnbaumer L, Molkentin JD. A TRPC6-dependent pathway for myofibroblast transdifferentiation and wound healing in vivo. Dev. Cell 2012. 23:705-715.
Auger-Messier M, Accornero F, Goonasekera SA, Bueno OF, Lorenz JN, van Berlo JH, Willette RN, Molkentin JD. Unrestrained p38 MAPK Activation in Dusp1/4 Double Null Mice Induces Cardiomyopathy. Circ Res. 2012. In Press.
Lorts A, Schwanekamp JA, Baudino TA, McNally EM, Molkentin JD. Deletion of periostin reduced muscular dystrophy and fibrosis in mice by modulating the transforming growth factor-b pathway. Proc Natl Acad Sci USA. 2012. 109:10978-10983
Lynch JM, Maillet M, Vanhoutte D, Schloemer A, Sargent MA, Blair NS, Lynch KA, Okada T, Aronow BJ, Osinska H, Prywes R, Lorenz JN, Mori K, Lawler J, Robbins J, Molkentin JD. A thrombospondin-dependent pathway for a protective ER stress response. Cell. 2012. 149,1257-1268
Liu Q, Chen Y, Auger-Messier M, Molkentin JD. Interaction Between NFkB and NFAT Coordinates Cardiac Hypertrophy and Pathological Remodeling. Circ Res. 2012. 110:1077-1086
Goonasekera SA, Molkentin JD. Unraveling the secrets of a double life: Contractile versus signaling Ca(2+) in a cardiac myocyte. J Mol Cell Cardiol. 52:317-322. 2012.
Goonasekera SA, Hammer K, Auger-Messier M, Bodi I, Chen X, Zhang H, Reiken S, Elrod JW, Correll RN, York AJ, Sargent MA, Hofmann F, Moosmang S, Marks AR, Houser SR, Bers DM, Molkentin JD. Decreased cardiac L-type Ca2+ channel activity induces hypertrophy and heart failure in mice. J. Clin Invest. 2012. 122:280-290
Enkhsaikhan Purevjav, MD, PhD Research Assistant Professor
focuses on identifying and screening the potential genes responsible for inherited and acquired cardiac diseases, creating in vitro and in vivo cardiomyopathy models and performing functional studies of mutations identified. Additionally, she studies the effects of factors such as viral infections, drugs (ACE inhibitors and beta-blockers) and mechanical stress (cyclic mechanical stretch, acute and chronic exercise) on cardiac function.
Research Assistant Professor
Cardiac disease; genetic abnormalities; cardiac mechanosensing; cardiomyopathy
Enkhsaikhan Purejav's, MD, PhD is focused on screening the potential genes responsible for inherited and acquired cardiac diseases and performing functional studies of mutations in these genes by creating in vitro and in vivo models. In addition, she investigates the effects of factors such as viral infections, drugs including ACE inhibitors and beta-blockers, and mechanical stress (cyclic mechanical stretch, acute and chronic exercise) on cardiac function in these models.
MD: Leningrad Pediatric Medical Institute, Russia, 1989
Residency: Saint’s Petersburg Pediatric Medical Academy, Russia
Certification: Pediatric Cardiology, 1994
PhD: Shimane Medical University, Japan, 2003
Purevjav E, Arimura T, Augustin S, Huby AC, Takagi K, Nunoda S, Kearney DL, Taylor MD, Terasaki F, Bos JM, Ommen SR, Shibata H, Takahashi M, Itoh-Satoh M, McKenna WJ, Murphy RT, Labeit S, Yamanaka Y, Machida N, Park JE, Alexander PM, Weintraub RG, Kitaura Y, Ackerman MJ, Kimura A, Towbin JA. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum Mol Genet. 2012 May 1;21(9):2039-53.
Purevjav E, Varela J, Morgado M, Kearney DL, Li H, Taylor MD, Arimura T, Moncman CL, McKenna W, Murphy RT, Labeit S, Vatta M, Bowles NE, Kimura A, Boriek AM, Towbin JA. Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J Am Coll Cardiol. 2010 Oct 26;56(18):1493-502.
Samani K, Wu G, Ai T, Shuraih M, Mathuria NS, Li Z, Sohma Y, Purevjav E, Xi Y, Towbin JA, Cheng J, Vatta M. A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness. Heart Rhythm. 2009 Sep;6(9):1318-26.
Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M. alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. Circ Arrhythm Electrophysiol. 2008 Aug;1(3):193-201.
Purevjav E, Nelson DP, Varela JJ, Jimenez S, Kearney DL, Sanchez XV, DeFreitas G, Carabello B, Taylor MD, Vatta M, Shearer WT, Towbin JA, Bowles NE. Myocardial Fas ligand expression increases susceptibility to AZT-induced cardiomyopathy. Cardiovasc Toxicol. 2007;7(4):255-63.
Hardarson HS, Baker JS, Yang Z, Purevjav E, Huang CH, Alexopoulou L, Li N, Flavell RA, Bowles NE, Vallejo JG. Toll-like receptor 3 is an essential component of the innate stress response in virus-induced cardiac injury. Am J Physiol Heart Circ Physiol. 2007 Jan;292(1):H251-8.
Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S. Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II. Eur J Clin Invest. 2002 Sep;32(9):707-12.
Stephanie M. Ware, MD, PhD, FACMG Co-Director, Cardiovascular Genetics
Co-Director, Cardiovascular Genetics
Associate Medical Director and Director of Research and Development, The Heart Institute Diagnostic Laboratory
Clinical genetics; cardiovascular genetics; cardiomyopathy; cardiovascular development
Stephanie M. Ware, MD, PhD, is an Associate Professor of Pediatrics, University of Cincinnati College of Medicine. She is Co-Director of Cardiovascular Genetics in the Heart Institute as well as Associate Medical Director and Director of Research and Development of the Heart Institute Diagnostic Laboratory. She has a joint academic appointment in the Division of Human Genetics at Cincinnati Children’s Hospital. Dr. Ware graduated Summa cum laude with highest honors in Zoology from Butler University. She earned her MD and PhD degrees at the University of Cincinnati College of Medicine where she was elected to Alpha Omega Alpha Honor Society. She completed her pediatric residency and clinical genetics fellowship at Baylor College of Medicine in Houston, Texas.
Dr. Ware’s research interests include the genetic and developmental basis of disorders of cardiac structure and function. Her research laboratory has made significant contributions in the areas of congenital heart defects and cardiomyopathy. Dr. Ware has received a number of scholarly awards including the Weinstein Cardiovascular Development Young Investigator Award, the March of Dimes Research Foundation Basil O’Connor Scholar Award, and the Burroughs Wellcome Clinical Scientist in Translational Research Award. She holds numerous grants and is currently Co-Chair of the American Heart Association Cardiovascular Development study section. In 2011, she was elected as the National Council Member Representing Genetics for the Society of Pediatric Research. Clinically, Dr. Ware evaluates and manages patients with genetic disorders and has specific expertise in cardiomyopathy and syndromes with cardiovascular disease. Dr. Ware is a member of the American Heart Association, the American Society for Human Genetics, the Society for Pediatric Research, and is Faculty of the American College of Medical Genetics.
Visit Dr. Ware's Lab site.
MD, PhD: University of Cincinnati College of Medicine, Cincinnati, OH,1997.
Residency: Pediatrics, Baylor College of Medicine, 2002.
Fellowship: Medical Genetics, Baylor College of Medicine, 2002.
American Board of Pediatrics, 2000, 2007.
American Board of Medical Genetics in Clinical Genetics, 2002.
Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2012. Epub ahead of print.
Bedard JEJ, Haaning AM, Ware SM. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease patients. PLoS One. 2011;6(8):e23755.
Czosek RJ, Haaning A, Ware SM. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatr Res. 2010;68:275-280.
Sutherland M, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17.
Ware SM*, El-Hassan N, Kahler SG, Zhang Q, Ma Y-M, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong L-J. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46: 308-314. *corresponding author
Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet. 2009;149A: 887-893.
Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009;18: 861-871.
Ware SM*, Quinn M, Ballard ET, Miller E, Uzark K, Spicer RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. 2008;73: 165-170. *corresponding author
Bedard JEJ, Purnell JD, Ware SM. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. Hum Mol Genet. 2007;16: 187-198.
Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X linked heterotaxy: evidence for a genetic interaction of Zic3 with the Nodal signaling pathway. Dev Dyn. 2006 Jun;235:1631-1637.
Joshua S. Waxman, PhD Assistant Professor
Understanding the molecular underlying nature of congenital heart defects; cardiomyocyte formation
Visit the Waxman Lab.
D’Aniello, E., Rydeen, A., Anderson, J., Mandal, A., and Waxman, J.S.Depletion of retinoic acid receptors initiates a novel positive feedback mechanism that promotes teratogenic increases in retinoic acid. PLoS Genet. Aug. 9(8); e1003689. 2013.
Sorrell, M.R., Dohn T.E., D’Aniello, E., Waxman, J.S. Tcf7l1 proteins cell autonomously restrict cardiomyocyte and promote endothelial specification in zebrafish. Dev Biol. 380(2); 199-210. 2013.
Mandal, A., Rydeen, A., Anderson, J., Sorrell, M.R., Zygmunt, T., Torres-Vázquez, J. and Waxman,J.S. Transgenic retinoic acid sensor lines in zebrafish indicate regions of available embryonic retinoic acid. Developmental Dynamics. Aug. 242(8); 989-1000. 2013.
Dohn TE, Waxman JS. Distinct phases of Wnt/β-catenin signaling direct cardiomyocyte formation in zebrafish. Dev Biol. Jan 15;361(2):364-76. 2012.
Sorrell MR, Waxman JS. Restraint of Fgf8 signaling by retinoic acid signaling is required for proper heart and forelimb formation. Dev. Biol. Oct 1, 2011. ;358(1):44-55. Epub Jul 22, 2011.
Waxman JS, Yelon D. Zebrafish retinoic acid receptors function as context-dependent transcriptional activators. Dev Biol. 352:128-40. 2011.
Feng L, Hernandez RE, Waxman JS, Yelon D, Moens CB. Dhrs3a regulates retinoic acid biosynthesis through a feedback inhibition mechanism. Dev Biol. 338(1):1-14. Feb 1, 2010.
Waxman JS, Yelon D. Increased Hox activity mimics the teratogenic effects of excess retinoic acid signaling. Dev Dyn. 238(5):1207-13. May, 2009.
Linville A, Radtke K, Waxman JS, Yelon D, Schilling TF. Combinatorial roles for zebrafish retinoic acid receptors in the hindbrain, limbs and pharyngeal arches. Dev Biol. 325(1):60-70. Jan 1, 2009.
Waxman JS, Keegan BR, Roberts RW, Poss KD, Yelon D. Hoxb5b acts downstream of retinoic acid signaling in the forelimb field to restrict heart field potential in zebrafish. Dev Cell. 15(6):923-34. Dec, 2008.
Katherine Yutzey, PhD Professor
Molecular regulation of heart development; valve development and disease mechanisms; cardiomyocyte proliferation, cardiac connective tissue lineages.
Visit the Yutzey Lab.
Visit Dr. Yutzey's Lab Web Site.
Katherine E. Yutzey, PhD, professor, joined the Division of Molecular Cardiovascular Biology at Cincinnati Children's Hospital Medical Center in 1995.
Dr. Yutzey is the first recipient of the Fifth Third Bank/Charlotte R. Schmidlapp Women Scholars Award and was also a recipient of a Children's Hospital Medical Center Trustee Award. Her work is also supported by grants from National Institutes of Health (NIH) and the American Heart Association.
The focus of Dr. Yutzey's research program is the regulation of normal and abnormal heart development. Congenital heart defects represent one of the most common classes of human birth defects. Increasing evidence exists for a genetic basis of certain instances of congenital heart disease.
Dr. Yutzey’s lab also studies molecular mechanisms of cardiac connective tissue cell lineage development and disease. This work focuses on heart valve development and disease as well as mechanisms of cardiac fibrosis.
BA: Oberlin College, Oberlin, OH, 1986.
PhD: Purdue University, West Lafayette, IN,1992
Fellowship: Cornell University Medical College, New York, NY,1992-1995.
Sengupta, A. V.V. Kalinichenko, K.E. Yutzey. FoxO and FoxM1 transcription factors have antagonistic functions in neonatal cardiomyocyte cell cycle withdrawal and IGF1 gene regulation. Circ. Res. 112:267-277. 2013.
Carruthers, C.A., C.M. Alfieri, E.M. Joyce, S.C. Watkins, K.E. Yutzey, M.S. Sacks Gene expression and collagen fiber micromechanical interactions of the semilunar heart valve interstitial cell. Cell. Mol. Bioeng. 5:254-265.
Mead TJ, Yutzey KE. Notch pathway regulation of neural crest cell development in vivo. Dev. Dyn. 2012:241:376-389.
Chakraborty S, Yutzey KE.Tbx20 regulation of cardiac cell proliferation and lineage specialization during embryonic and fetal development in vivo. Dev. Biol. 2012:363:234-246.
Cheek JD, Wirrig EE, Alfieri CM, James JF, Yutzey KE. Differential activation of valvulogenic, chondrogenic and osteogenic pathways in mouse models of myxomatous and calcific aortic valve disease. J. Mol. Cell. Cardiol. 2012:52:689-700.
Le TT, Conley KW, Mead TJ, Rowan S, Yutzey KE, Brown NL. Requirements for Jag1-Rbpj mediated Notch signaling during early mouse lens development. Dev. Dyn. 2012:241:493-504.
Sengupta A, Chakraborty S, Paik J, Yutzey KE, and Evans-Anderson HJ. FoxO1 is required in endothelial but not myocardial cell lineages during cardiovascular development. Dev. Dyn. 2012:241:803-813.
Fujimoto KL, Tobita K, Guan J, Hashizume R, Takanari K, Alfieri CM, Yutzey KE, Wagner WR. Placement of an elastic biodegradable cardiac patch on a subacute infarcted heart leads to cellularization with early developmental cardiomyocyte characteristics. J. Card. Fail. 2012:18:585-595.
Braitsch CM, Combs MD, Quaggin SE, Yutzey KE. Pod1/Tcf21 is regulated by retinoic acid signaling and inhibits differentiation of epicardium derived cells into smooth muscle in the developing heart. Dev. Biol. 2012:368:345-357.
Hinton RB,Yutzey KE. Heart valve structure and function in development and disease. Ann Rev. Physiol. 2011:73:29-36.
The Akt/FoxO pathway in heart development. Component Principal Investigator. National Institutes of Health.#P01 HL069779.2002-2012
Twist1 regulation of valve progenitors.wist1 regulation of valve.National Institutes of Health.R01 HL082716.2010-2015
Wnt signaling in heart valve development and disease. Principal Investigator.National Institutes of Health#R01 HL0943192012-2016
Cell signaling mechanisms of calcific aortic valve disease.Principal Investigator.National Institutes of Health.#R01 HL1146822012-2016
Differential Twist1 dimer function and gene regulation in valve progenitor cells.Mary Lee, Fellow. K. Yutzey, Sponsor. American Heart Association-Great Rivers Affiliate, Pre-doctoral Fellowship 2011-2013
FOXO function in cardiomyocytes during development and disease.Arunima Sengupta, Fellow. K. Yutzey, Sponsor. American Heart Association-Great Rivers AffiliatePost-doctoral Fellowship2011-2013
Summer Undergraduate Research Fellowship (SURF).K. Yutzey, Principal Investigator.American Heart Association-Great Rivers Affiliate.2012-2013
The role of COX2 in the progression of human and mouse aortic valve disease.Elaine Wirrig, Fellow. K Yutzey, Sponsor. NIH NHLBI Post-Doctoral Fellowship (F32 HL110390).2012-2014
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