D. Woodrow Benson, MD, PhD
Professor | Director, Cardiovascular Genetics
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsGenetic basis of pediatric heart disease Research InterestsCardiovascular disease in the young; congenital heart defects; cardiomyopathy; disorders of heart rhythm (arrhythmias); heart malformation or dysfunction
Biography
Education and Training
MS: Emory University, 1967. PhD: University of North Carolina, 1970. MD: Duke University, 1972. Residency: Pediatrics, Duke University. Fellowship: Cardiology, Duke University. Certification: Pediatrics, 1976, 1993; Cardiology, 1977, 1993.
Publications
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Hinton RB, Adelman-Brown J, Witt S, Krishnamurthy VK, Osinska H, Sakthivel B, James JF, Li DY, Narmoneva DA, Mecham RP, Benson DW. Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model. Circ Res. 2010 Aug 20;107(4):549-57.
Wansapura JP, Hor KN, Mazur W, Fleck R, Hagenbuch S, Benson DW, Gottliebson WM. Left ventricular T2 distribution in Duchenne muscular dystrophy. J Cardiovasc Magn Reson. 2010 Mar 18;12:14.
Beery TA, Shah MJ, Benson DW. Genetic characterization of familial CPVT after 30 years. Biol Res Nurs. 2009 Jul;11(1):66-72.
Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol. 2009 Mar 24;53(12):1065-71. Markham LW, Kinnett K, Wong BL, Benson DW, Cripe LH. Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy. Neuromuscul Disord. 2008;18:365-370. Hinton RB, Jr, Andelfinger G, Sekar P, Hinton AC, Gendron RL, Michelfelder EC, Robitaille Y, Benson DW. Prenatal head growth and white matter injury in hypoplastic left heart syndrome. Ped Res 2008;64:364-369. Hinton RB, Martin LJ, Rame-Gowda SR, Tabangin ME, Cripe LH, Benson DW. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol. 2008; in press. Martin LJ, Ramachandran V, Cripe LH, Hinton RB, Andelfinger G, Tabangin M, Shooner K, Keddache M, Benson DW. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet. 2007;121:275-284. Zhao B, Etter L, Hinton Jr. RB, Benson DW. BMP and FGF regulatory pathways in semilunar valve precursor cells. Dev Dyn. 2007;236:971-980. Viswanathan S, Burch JBE, Fishmann GI, Moskowitz IP, Benson DW. Immunohistochemical characterization of sinoatrial node in four atrioventricular conduction system marker mice. J Mol Cell Cardiol. 2007;42:946-953. Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi M, Cripe LH, Benson DW. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol. 2007; 50:1590-1595.
Grants
Pediatric Heart Network. Principal Investigator. National Institutes of Health. Sep 2006 - Aug 2011. #U01HL085057.
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James D. Gulick, MS
Research Instructor
is a member of the Robbins lab, studying cardiac structure and function. His interest lies primarily in understanding how certain mutations in contractile protein genes are able to alter the function of the heart.
513-803-0994
james.gulick@cchmc.org
James D. Gulick, MS
Research Instructor
Academic Information
Instructor, UC Department of Pediatrics
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Specialties
Understanding how certain mutations in contractile protein genes are able to alter the function of the heart
Biography
Education and Training
MS: University of Missouri-Columbia, Columbia, Mo, 1983
Publications
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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. Sadayappan S, Gulick J, Klevitsky R, Lorenz JN, Sargent M, Molkentin JD, Robbins J. Cardiac myosin binding protein-C phosphorylation in a {beta}-myosin heavy chain background. Circulation. 2009 Mar 10;119(9):1253-62. Krenz M, Gulick J, Osinska HE, Colbert MC, Molkentin JD, Robbins J. Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome. Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18930-5. Gulick J, Robbins J. Regulation of transgene expression using tetracycline. Curr Protoc Mol Biol. 2005 Aug;Chapter 23:Unit 23.12. Pattison JS, Waggoner JR, James J, Martin L, Gulick J, Osinska H, Klevitsky R, Kranias EG, Robbins J. Phospholamban overexpression in transgenic rabbits. Transgenic Res. 2008 Apr;17(2):157-70. Maloyan A, Gulick J, Glabe CG, Kayed R, Robbins J. Exercise reverses preamyloid oligomer and prolongs survival in alphaB-crystallin-based desmin-related cardiomyopathy. Proc Natl Acad Sci U S A. 2007 Apr 3;104(14):5995-6000 Sadayappan S, Gulick J, Osinska H, Martin LA, Hahn HS, Dorn GW 2nd, Klevitsky R, Seidman CE, Seidman JG, Robbins J. Cardiac myosin-binding protein-C phosphorylation and cardiac function. Circ Res. 2005 Nov 25;97(11):1156-63. Sanbe A, Osinska H, Villa C, Gulick J, Klevitsky R, Glabe CG, Kayed R, Robbins J. Reversal of amyloid-induced heart disease in desmin-related cardiomyopathy. Proc Natl Acad Sci U S A. 2005 Sep 20;102(38):13592-7.
Grants
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Robert Bruce Hinton, MD
Director, Heart Institute BioRepository (HIBR)
is a pediatric cardiologist who has basic and translational research programs. His laboratory studies the genetic and developmental basis of pediatric heart disease with a focus on cardiovascular malformations and valve disease.
513-636-0389
robert.hinton@cchmc.org
Robert Bruce Hinton, MD
Director, Heart Institute BioRepository (HIBR)
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsCardiovascular genetics; echocardiography Research InterestsValve and aorta disease using human genetics and molecular developmental biology approaches
Biography
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.
Education and Training
BA: Bucknell University, Lewisburg, PA.
MD: Medical University of South Carolina, Charleston, SC.
Residency: Memorial Health University Medical Center, Savannah, GA.
Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Fellowship: Cincinnati Children's Research Foundation, Cincinnati, OH.
Certification: Pediatrics, Pediatric Cardiology.
Publications
View PubMed Publications
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). Hinton RB. Genetic contribution to bicuspid aortic valve morphology. Am J Med Genet. 2011;155(11):2899-2900. Acharya A, Hans CP, Koenig SN, Nichols HA, Galindo CL, Garner HR, Merrill WH, Hinton RB, Garg V. Inhibitory role of Notch1 in calcific aortic valve disease. PLoS One. 2011;6(11):e27743. Snider P, Hinton RB, Moreno-Rodriguez RA, Wang J, Rogers R, Lindsley A, Li F, Ingram D, Menick D, Field LJ, Firulli AB, Molkentin JD, Markwald RR, Conway SJ. Periostin is required for maturation and extracellular matrix stabilization of noncardiomyocyte lineages of the heart. Circ Res. Apr 2008;102(7):752-760. Hinton RB, Alfieri C, Witt S, Glascock B, Khoury PR, Benson DW, Yutzey KE. Mouse heart valve structure and function: echocardiographic and morphometric analyses from the fetus through the aged adult. Am J Physio Heart Circ Physiol. 2008;294(6):H2480-2488. Hinton RB, Andelfinger G, Sekar P, Hinton AC, Gendron RL, Michelfelder EC, Robitaille Y, Benson DW. Prenatal head growth and white matter injury in hypoplastic left heart syndrome. Pediatr Res. Oct 2008;64(4):364-369.
Grants
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. Angiotensis 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.
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Jeanne M. James, MD
Associate Professor, UC Department of Pediatrics | Director, Cardiology Fellowship Program | Director, Mouse Echocardiography Core
is a pediatric cardiologist, interested in exploring the pathological processes that lead to abnormal heart function as well as the compensatory phenomena intrinsic to the myocardium that may assist in recovery of function. Visit the James lab site.
513-803-3151
Jeanne M. James, MD
Associate Professor, UC Department of Pediatrics | Director, Cardiology Fellowship Program | Director, Mouse Echocardiography Core
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Cardiovascular genetics, echocardiography, congenital heart disease, medical education, molecular cardiology, ventricular remodeling, cardiac hypertrophy. Visit the James Lab.
Biography
Jeanne James, MD, is an Associate Professor of Pediatrics at University of Cincinnati College of Medicine and is currently the Director of the Cardiology Fellowship Training Program at Cincinnati Children's Hospital Medical Center.
A native of West Virginia, Dr. James earned her bachelor and medical degrees from West Virginia University in Morgantown, WV. She completed her pediatric residency and pediatric cardiology fellowship at Vanderbilt University Medical Center in Nashville, TN. Dr. James has been an attending staff member of the Division of Cardiology at Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine since 1995.
Dr. James' academic interests are in translational research on heart muscle disease, cardiovascular genetics and echocardiography. She has made numerous scholarly contributions to the field with publications describing both laboratory-based and clinical research. She serves as a grant reviewer for the American Heart Association and is a peer-reviewer for a number of scientific and medical journals.
Dr. James has established collaborative relationships with laboratory researchers at Cincinnati Children’s Hospital, the University of Cincinnati College of Medicine and investigators across the United States. As the Director of the Mouse Echocardiography Core, she uses non-invasive imaging to evaluate phenotypes of transgenic mice, including embryonic mice.
Dr. James serves as an attending physician in clinical echocardiography laboratory as well as the inpatient cardiology ward and consult team. Dr. James is a member of the Cardiovascular Genetics (CVG) service and has significant responsibilities in the CVG outpatient clinic. Dr. James is a member of the American Society of Echocardiography, the American Heart Association and the Society for Pediatric Research.
Education and Training
MD: West Virginia University, Morgantown, WV, 1987.
Residency: Vanderbilt University Medical Center, Nashville, TN, 1987-90.
Fellowship: Vanderbilt University Medical Center, Nashville, TN, 1991-94.
Certification: Pediatrics, 1990 - present
Certified: Pediatric Cardiology, 1996 - present
Publications
View PubMed Publications
Pattison J, Waggoner J, James J, Martin L, Gulick J, Osinska H, Klevitsky R, Kranias E, Robbins J. (2008) Phospholamban overexpression in transgenic rabbits.Transgenic Research 17(2):157-70.
Suzuki T, Palmer B, James J, Wang Y, Chen V, VanBuren P, Maughan D, Robbins J, LeWinter M. (2009) Effects of cardiac myosin isoform variation on myofilament function and cross-bridge kinetics in transgenic rabbits.Circ Heart Fail 2(4):334-41.
James J, Hor K, Moga M, Martin L, Robbins J. (2010) Effects of myosin heavy chain manipulation in experimental heart failure.J Mol Cell Cardiol 48(5):999-1006.
Hinton R, Adelman-Brown J, Witt S, Krishnamurthy V, Gruber M, Osinska H, Sakthivel B, James J, Narmoneva D, Mecham R, Benson D. (2010) Elastin haploinsufficiency results in latent progressive aortic valve disease in a mouse model.Circ Res 107(4):549-57.
Acehan D, Vaz F, Houtkooper R, James J, Moore V, Tokunaga C, Kulik W, Wansapura J, Toth M, Strauss A and Khuchua Z. (2010) Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome.J Biol Chem 286(2):899-908.
Stanley BA, Graham DR, James J, Mitsak M, Tarwater PM, Robbins J, Van Eyk JE. (2011) Altered myofilament stoichiometry in response to heart failure in a cardioprotective a-myosin heavy chain transgenic rabbit model.Proteomics Clin Appl 5(3-4):147-58.
James J and Robbins J. (2011) Signaling and myosin binding protein C.J Biol Chem 286(12):9913-9.
Combs M, Braitsch C, Lange A, James J and Yutzey K. (2011) NFATc1 promotes epicardium-derived cell (EPDC) invasion into myocardium.Development 138(9):1747-57.
James J, Kinnett K, Ittenbach R, Wang Y, Benson D and Cripe L. (2011) Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction. Neuromuscul Disord 21(7):462-7.
Sadayappan S, Gulick J, Martin L, Osinska H, Barefield D, Cuello F, Avkiran M, Lasko V, Lorenz J, Maillet M, Martin J, Heller-Brown J, Bers D, Molkentin J, James J and Robbins J. (2011) A critical function for Ser-282 in cardiac myosin binding protein-C phosphorylation and cardiac function.Circ Res 109(2):141-50.
Cheek J, Wirrig E, Alfieri C, James J and Yutzey K. Differential activation of valvulogenic, chondrogenic and osteogenic pathways in mouse models of myxomatous and calcific aortic valve disease. In press.
Grants
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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.
513-636-1340
zaza.khuchua@cchmc.org
Zaza Khuchua, PhD
Research Associate Professor
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Mitochondrial function; structure and dynamics in cardiac cells in normal and pathological conditions; role of mitochondrial phospholipds in aerobic metabolism in heart; role of lipid molecules in cell signaling systems
Biography
Education and Training
MS: Moscow State University, 1981
PhD: All Union Cardiology Research Center, Moscow Russia, 1987
Publications
View PubMed Publications
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.
Grants
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Qinghang Liu, MD, PhD
Research Fellow
is a research instructor who has basic and preclinical research programs in neonatal and adult cardiac function and heart failure pathogenesis. His research is focused on understanding molecular signaling mechanisms and transcriptional regulation of cardiac hypertrophy, myocardial remodeling, and heart failure. Visit the Molkentin lab.
513-636-4809
qinghang.liu@cchmc.org
Qinghang Liu, MD, PhD
Research Fellow
Academic Information
University of Cincinnati College of Medicine
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Specialties
Clinical InterestsCardiac hypertrophy and heart failure Research InterestsDefining novel signaling and transcriptional regulatory mechanisms underlying cardiac hypertrophy and heart failure using gene targeted and transgenic mice models; adenoviral-mediated gene transfer in cultured neonatal rat cardiomyocytes and other cell systems; hypertrophic signaling mechanisms
Biography
Education and Training
MD: Taishan Medical College, Shandong, China, 1994.
MS: Shanghai Medical University, Shanghai, China, 1997.
PhD: University of Tennessee Health Sciences Center, Memphis, TN, 2004.
Publications
View PubMed Publications
Liu Q, Busby JC, and Molkentin JD. Novel interaction between the TAK1-TAB1-TAB2 and the RCAN1-calcineurin regulatory pathways defines a signaling nodal control point. Nature Cell Biology. Jan 11, 2009. Liu Q, MacDonnell SM, Chen X, Lorenz J, Leitges M, Houser MR, and Molkentin JD. PKCα, but not PKCβ or PKCγ, regulates contractility and heart failure susceptibility: Implications for ruboxistaurin as a novel therapeutic approach. Circulation. Liu Q, Wilkins BJ, Lee YJ, Ichijo H, and Molkentin JD. Direct interaction and reciprocal regulation between ASK1 and calcineurin-NFAT control cardiomyocyte death and growth. Mol Cell Biol. 2006 26:3785-97.
Grants
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Angela Lorts, MD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Clinical InterestsHeart failure; cardiopulmonary bypass mediated myocardial dysfunction Research InterestsMyocardial remodeling
Biography
Education and Training
MD: Creighton University Medical School, Omaha, Nebraska, 1998.
Residency: The Children’s Hospital, Denver, Colorado, 2001.
Fellowship: Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, 2004. University of Michigan Medical Center, Ann Arbor, Michigan, 2006.
Certifications: American Board of Pediatrics, 2001; American Board of Pediatrics, Sub-Board of Pediatric Cardiology, 2004; American Board of Pediatrics, Sub-Board of Pediatric Critical Care, 2006.
Publications
View PubMed Publications
Lorts A, Burroughs T, Shanley TP. Elucidating the role of reversible protein phosphorylation in sepsis-induced myocardial dysfunction. Shock. 2009 Jul;32(1):49-54. Review. Lorts A, Schwanekamp JA, Elrod JW, Sargent MA, Molkentin JD. Genetic manipulation of periostin expression in the heart does not affect myocyte content, cell cycle activity, or cardiac repair.Circ Res. 2009 Jan 2;104(1):e1-7. Oka T, Xu J, Kaiser RA, Melendez J, Hambleton M, Sargent MA, Lorts A, Brunskill EW, Dorn GW 2nd, Conway SJ, Aronow BJ, Robbins J, Molkentin JD. Genetic manipulation of periostin expression reveals a role in cardiac hypertrophy and ventricular remodeling.Circ Res. 2007 Aug 3;101(3):313-21. McLean KM, Lorts A, Pearl JM. Current treatments for congenital aortic stenosis. Curr Opin Cardiol. 2006 May;21(3):200-4. Review.
Grants
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Marjorie Maillet, PhD
Research Instructor
is interested in understanding the signaling pathways that lead to cardiac hypertrophy and heart disease. Her current projects aim at defining new signaling pathways that regulate calcineurin and NFAT in the heart as well as characterizing MAP kinases targets associated with cardiac hypertrophy and heart failure. Visit the Molkentin lab.
513-636-2467
marjorie.maillet@cchmc.org
Marjorie Maillet, PhD
Research Instructor
Academic Information
University of Cincinnati College of Medicine
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Specialties
Biography
Publications
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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 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. Millay DP, Goonasekera SA, Sargent MA, Maillet M, Aronow BJ, Molkentin JD. Calcium influx is sufficient to induce muscular dystrophy through a TRPC-dependent mechanism.Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19023-8. Millay DP, Maillet M, Roche JA, Sargent MA, McNally EM, Bloch RJ, Molkentin JD. Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy.Am J Pathol. 2009 Nov;175(5):1817-23. Maillet M, Lynch JM, Sanna B, York AJ, Zheng Y, Molkentin JD. Cdc42 is an antihypertrophic molecular switch in the mouse heart.J Clin Invest. 2009 Oct;119(10):3079-88. Maillet M, Purcell NH, Sargent MA, York AJ, Bueno OF, Molkentin JD. DUSP6 (MKP3) null mice show enhanced ERK1/2 phosphorylation at baseline and increased myocyte proliferation in the heart affecting disease susceptibility.J Biol Chem. 2008 Nov 7;283(45):31246-55. Oka T, Maillet M, Watt AJ, Schwartz RJ, Aronow BJ, Duncan SA, Molkentin JD. Cardiac-specific deletion of Gata4 reveals its requirement for hypertrophy, compensation, and myocyte viability.Circ Res. 2006 Mar 31;98(6):837-45.
Grants
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Jeffery D. Molkentin, PhD
Professor | Howard Hughes Medical Institute Investigator
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Biography
Dr. Molkentin's research aims to understand the intracellular signaling pathways and transcriptional regulatory circuits that control mammalian cell growth and differentiation. His work has advanced the understanding of molecular events behind heart disease and muscular dystrophy. In 2008 he was named a Howard Hughes Medical Institute (HHMI) investigator. For a full description of Dr. Molkentin's work, please see his Faculty Lab Site in the Division of Molecular and Cardiovascular Biology.
Education and Training
BS Marquette University, Milwaukee WI, 1989.
PhD: Medical College of Wisconsin, 1994.
Publications
View PubMed Publications
Molkentin JD. The Transcription Factor C/EBP{beta} Serves as a Master Regulator of Physiologic Cardiac Hypertrophy.Circ Res. 2011 Feb 4;108(3):277-8. Eder P, Molkentin JD. TRPC channels as effectors of cardiac hypertrophy.Circ Res. 2011 Jan 21;108(2):265-72. Kehat I, Molkentin JD. Molecular pathways underlying cardiac remodeling during pathophysiological stimulation. Circulation. 2010 Dec 21;122(25):2727-35. Sengupta A, Molkentin JD, Paik JH, Depinho RA, Yutzey KE. FoxO transcription factors promote cardiomyocyte survival upon induction of oxidative stress.J Biol Chem. 2010 Dec 15. 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. Liu Q, Molkentin JD. Protein kinase Cα as a heart failure therapeutic target. J Mol Cell Cardiol. 2010 Oct 16. Wansapura JP, Millay DP, Dunn RS, Molkentin JD, Benson DW. Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice. Neuromuscul Disord. 2011 Jan;21(1):68-73. Elrod JW, Wong R, Mishra S, Vagnozzi RJ, Sakthievel B, Goonasekera SA, Karch J, Gabel S, Farber J, Force T, Brown JH, Murphy E, Molkentin JD. Cyclophilin D controls mitochondrial pore-dependent Ca(2+) exchange, metabolic flexibility, and propensity for heart failure in mice.J Clin Invest. 2010 Oct 1;120(10):3680-7. doi: 10.1172/JCI43171. van Berlo JH, Elrod JW, van den Hoogenhof MM, York AJ, Aronow BJ, Duncan SA, Molkentin JD. The transcription factor GATA-6 regulates pathological cardiac hypertrophy.Circ Res. 2010 Oct 15;107(8):1032-40. Heineke J, Auger-Messier M, Correll RN, Xu J, Benard MJ, Yuan W, Drexler H, Parise LV, Molkentin JD. CIB1 is a regulator of pathological cardiac hypertrophy.Nat Med. 2010 Aug;16(8):872-9.
Grants
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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.
513-803-2576
enkhsaikhan.purevjav@cchmc.org
Enkhsaikhan Purevjav, MD, PhD
Research Assistant Professor
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Cardiac disease; genetic abnormalities; cardiac mechanosensing; cardiomyopathy
Biography
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.
Education and Training
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
Publications
View PubMed Publications
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. 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. 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. 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.
Grants
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Sudarsan Rajan, PhD
has expertise in development of humanized mouse models for cardiovascular research with special focus on contractile and regulatory proteins. He joined the Division of Molecular Cardiovascular Biology with Dr. Robbin’s group to become a part of the ongoing research efforts of the Heart Institute. His current focus extends to understanding molecular mechanisms of the proteotoxicity in heart as well as identifying and exploiting unrecognized pathways in the biology of heart failure.
513-803-7860
sudarsan.rajan@cchmc.org
Sudarsan Rajan, PhD
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Development of humanized mouse models for cardiovascular research and understanding the intracellular signaling pathways; contractile and regulatory protein gene expression and function
Biography
Sudarsan Rajan, PhD, received his doctorate in India and the post-doctoral training in the Department of Molecular Genetics, University of Cincinnati. His expertise has been in development of humanized mouse models for cardiovascular research with special focus on contractile and regulatory proteins. He was selected as one of the three finalists for the Outstanding Early-Career Investigator Award during the AHA-Basic Cardiovascular Sciences 2010 Scientific Sessions: Technological and Conceptual Advances in Cardiovascular Disease. His current research is supported by the National Scientist Development grant from the American Heart Association.
Education and Training
MSc: JIPMER, India, 1994. PhD: Madurai Kamaraj University, India, 2002. Postdoctoral Training: University of Cincinnati, Cincinnati, OH, 2002-2011.
Publications
Rajan S, Jagatheesan G, Karam CN, Alves ML, Bodi I, Schwartz A, Bulcao CF, D'Souza KM, Akhter SA, Boivin GP, Dube DK, Petrashevskaya N, Herr AB, Hullin R, Liggett SB, Wolska B, Solaro RJ, Wieczorek DF. Molecular and Functional Characterization of a Novel Cardiac Specific Human Tropomyosin Isoform. Circulation. 2010;121:410-18. Jagatheesan G, Rajan S, Wieczorek DF. Investigations into tropomyosin function using mouse models. J Mol Cell Cardiol. 2010 May;48(5):893-8. Wieczorek DF, Jagatheesan G, Rajan S. The role of tropomyosin in heart disease. In Tropomyosin (Ed.) Peter Gunning. Adv Exp Med Biol. 2008;644:132-42. Rajan S, Ahmed RP, Jagatheesan G, Petrashevskaya N, Boivin GP, Urboniene D, Arteaga GM, Wolska BM, Solaro RJ, Liggett SB, and Wieczorek DF. Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity. Circ Res. 2007;101(2):205-14. Rajan S, Williams SS, Jagatheesan G, Ahmed RP, Fuller-Bicer G, Schwartz A, Aronow BJ, Wieczorek DF. Microarray analysis of gene expression during early stages of mild and severe cardiac hypertrophy. Physiol Genomics. 2006;27;27(3):309-17. Rajan S, Radhakrishnan J, Rajamanickam C. Direct injection and expression in vivo of full-length cDNA of the cardiac isoform of alpha-2 macroglobulin induces cardiac hypertrophy in the rat heart. Basic Res Cardiol. 2003;98(1):39-49.
Grants
Translational and Post-translational Regulation of Tropomyosin in Normal and Cardiomyopathic Hearts. Principal Investigator. American Heart Association. Jan 2011 - Dec 2014.
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Stephanie M. Ware, MD, PhD, FACMG
Co-Director, Cardiovascular Genetics
is a clinical geneticist who has basic and translational research programs in cardiac structure and function. Her lab studies the genetic and developmental basis of congenital heart defects, with specific interest in the molecular mechanisms controlling heart sidedness in developmental diseases such as X-linked heterotaxy. Translational research in pediatric cardiomyopathy is a second lab focus. Visit the Ware Lab.
513-803-1750
stephanie.ware@cchmc.org
Stephanie M. Ware, MD, PhD, FACMG
Co-Director, Cardiovascular Genetics
Associate Medical Director and Director of Research and Development, The Heart Institute Diagnostic Laboratory
Academic Information
Associate Professor, UC Department of Pediatrics
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Specialties
Clinical genetics; cardiovascular genetics; cardiomyopathy; cardiovascular development
Biography
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.
Education and Training
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.
Publications
View PubMed Publications
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.
Grants
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Joshua S. Waxman, PhD
Assistant Professor
Academic Information
Assistant Professor, UC Department of Pediatrics
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Specialties
Understanding the molecular underlying nature of congenital heart defects; cardiomyocyte formation Visit the Waxman Lab.
Biography
Education and Training
BA: New College, Sarasota, FL,1999.
PhD: University of Washington, Seattle, WA, 2004.
Postdoctoral Fellow: Skirball Institute/NYU School of Medicine, New York, NY, 2004-2009.
Publications
View PubMed Publications
Dohn TE, Waxman JS. Distinct phases of Wnt/β-catenin signaling direct cardiomyocyte formation in zebrafish. Dev Biol. Epub ahead of print. Nov 4, 2011. 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. 2011;352:128-40.
Feng L, Hernandez RE, Waxman JS, Yelon D, Moens CB. Dhrs3a regulates retinoic acid biosynthesis through a feedback inhibition mechanism. Dev Biol. 2010 Feb 1;338(1):1-14. Waxman JS, Yelon D. Increased Hox activity mimics the teratogenic effects of excess retinoic acid signaling. Developmental Dynamics. 2009;238:1207-13.
Linville A, Radkte K, Waxman JS, Yelon D, Schilling T. Combinatorial roles for zebrafish retinoic acid receptors in the hindbrain, limbs and pharyngeal arches. Developmental Biology. 2009;325:60-70.
Waxman JS, Keegan BR, Roberts RW, Poss KD, Yelon D. Hoxb5b acts downstream of retinoic acid signaling in the forelimb field to restrict cardiac cell number in zebrafish. Developmental Cell. 2008;15:923-34.
Waxman JS, Yelon D. Comparison of the expression patterns of newly identified zebrafish retinoic acid and retinoid X receptors. Developmental Dynamics. 2007;236:587-95.
Grants
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Katherine Yutzey, PhD
Professor
is focused on the molecular mechanisms of heart development and disease. Particular emphasis is on signaling pathways and transcription factors that control heart valve development as well as contribute to pediatric and adult valve disease. Additional projects address the development of coronary vasculature and maturation of cardiac muscle after birth. Visit the Yutzey Lab.
513-636-8340
katherine.yutzey@cchmc.org
Katherine Yutzey, PhD
Professor
Academic Information
Professor, UC Department of Pediatrics
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Specialties
Molecular regulation of embryonic heart development; identifying regulators of early heart lineage determination; heart chamber formation and defects Visit the Yutzey Lab.
Biography
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.
Education and Training
BA: Oberlin College, Oberlin, OH, 1986. PhD: Purdue University, West Lafayette, IN,1992 Fellowship: Cornell University Medical College, New York, NY,1992-1995.
Publications
View PubMed Publications
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. 2010 Dec 14.
Sengupta A, Molkentin JD, Paik JH, Depinho RA, Yutzey KE. FoxO transcription factors promote cardiomyocyte survival upon induction of oxidative stress. J Biol Chem. 2010 Dec 15.
Chakraborty S, Wirrig EE, Hinton RB, Merrill WH, Spicer DB, Yutzey KE. Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves. Dev Biol. 2010 Nov 1;347(1):167-79.
Chakraborty S, Combs MD, Yutzey KE. Transcriptional regulation of heart valve progenitor cells. Pediatr Cardiol. 2010 Apr;31(3):414-21. Alfieri CM, Cheek J, Chakraborty S, Yutzey KE. Wnt signaling in heart valve development and osteogenic gene induction. Dev Biol. 2010 Feb 15;338(2):127-35.
Hinton RB, Yutzey KE. Heart Valve Structure and Function in Development and Disease. Annu Rev Physiol. 2010 Feb 19.
Combs MD, Yutzey KE. Heart valve development: regulatory networks in development and disease. Circ Res. 2009 Aug 28;105(5):408-21. Review.
Sengupta A, Molkentin JD, Yutzey KE. FoxO transcription factors promote autophagy in cardiomyocytes. J Biol Chem. 2009 Oct 9;284(41):28319-31.
Mead TJ, Yutzey KE. Notch pathway regulation of chondrocyte differentiation and proliferation during appendicular and axial skeleton development. Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14420-5.
Grants
Notch signaling in heart valve development and disease. Principal Investigator. National Institutes of Health. 2009 - 2011. #R01 HL094319. The function of Notch1 in heart valve development. Sponsor. American Heart Association. 2009 - 2011. Tbx18 regulation of epicardial-derived cell proliferation, migration and differentiation in cardiac development. Sponsor. American Heart Association. 2009 - 2011. The Akt/FoxO pathway in heart development. Component Principal Investigator. National Institutes of Health. 2002 - 2012. #P01 HL069779-06. Twist1 regulation of valve progenitors. Principal Investigator. National Institutes of Health. 2010- 2015. #R01 HL082716.
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