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Perelman School of Medicine at the University of Pennsylvania Advanced Search

Jason Z Stoller, MD

Jason Z Stoller, MD

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Assistant Professor of Clinical Pediatrics
Department: Pediatrics

Contact information
3615 Civic Center Blvd, Suite 416F
Philadelphia, PA 19104
Education:
B.A. (Physics)
University of Pennsylvania, 1994.
M.D. (Medicine)
University of Pennsylvania, 1999.
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Description of Research Expertise

I am a neonatologist with a research interest in the genetic basis of cardiac development and the molecular mechanisms of congenital heart disease. One of my research projects focuses on understanding DiGeorge syndrome, a relatively common syndrome affecting newborns. Patients with DiGeorge syndrome can have a wide variety of problems including deformities of the head and face, speech problems due to improper separation of the oral and nasal cavities, cleft palate, absence or incomplete development of the thymus and parathyroid glands, and problems with the aortic arch and outflow tract of the heart. The cardiac defects associated with the syndrome, often severe, are present in 75 percent of patients and contribute significantly to morbidity.

Most patients with DiGeorge syndrome carry a large genomic deletion of chromosome 22q11. One gene within this commonly deleted region is the transcription factor, TBX1. My colleagues and I identified the molecular mechanism by which a human TBX1 mutation results in DiGeorge syndrome. Additionally, through work with embryonic stem cells, we identified a new Tbx1 interacting protein that is critical for the earliest stages of embryonic development and may be important in understanding the function of Tbx1. Understanding the mechanisms of Tbx1 function will provide insight into both normal and abnormal cardiac development.

A second research project is to identify genes that are critical for differentiating the left sixth aortic arch artery into the ductus arteriosus. Patent ductus arteriosus, a condition in which a child’s ductus arteriosus does not close after birth, is major cause of neonatal morbidity and therapeutic options are limited. A better understanding of what differentiates the left sixth aortic arch artery from the other aortic arch arteries during development will elucidate potential targets for future pharmacologic treatment strategies and has the potential to improve long-term outcomes among extremely low birthweight neonates. Tools used for this project include RNA transcript microarrays and in vivo disease models.

Selected Publications

Subbaraj I, Pan H, Zhang T, Stoller JZ: The Role of Jun in Aortic Arch Artery Formation and Remodeling (Platform Presentation). Eastern Society for Pediatric Research 2014.

Subbaraj I, Pan H, Zhang T, Stoller JZ: The Role of Jun in Aortic Arch Artery Formation and Remodeling (Platform Presentation). Pediatric Academic Societies' Annual Meeting 2014.

Ebby C, Zhang T, Stephens CL, Clyman RI, Reese J, Stoller JZ: Next Generation Sequencing Reveals Genes Uniquely Expressed in the Human Fetal Ductus Arteriosus (Poster Symposium). Pediatric Academic Societies' Annual Meeting 2014.

Ebby C, Zhang T, Stephens CL, Clyman RI, Reese J, Stoller JZ: Next Generation Sequencing Reveals Genes Uniquely Expressed in the Human Fetal Ductus Arteriosus (Platform Presentation). Eastern Society for Pediatric Research 2014.

Shelton E, Ector G, Galindo C, Hooper C, Brown N, Wilkerson I, Pfaltzgraff E, Paria B, Cotton R, Stoller JZ, Reese J: Transcriptional profiling reveals ductus arteriosus-specific genes that regulate vascular tone. Physiological Genomics 2014 Notes: Accepted for publication.

Pan H, Zhang T, Kraft CA, Subbaraj I, De Mesmaeker J, Latney BC, Goldmuntz E, Bhattacharya S, Stoller, JZ: TBX1 Interacts with JUN and a Dominant Negative JUN Missense Mutation Is Associated with Congenital Heart Disease (Platform Presentation). Eastern Society for Pediatric Research 2013.

Zhang T, Liu J, Zhang J, Thekkethottiyil EB, Macatee TL, Ismat FA, Wang F, Stoller JZ.: Jun is Required in Isl1-expressing Progenitor Cells for Cardiovascular Development. PLoS ONE. 8(2): e57032, 2013.

Sweeney A, Coles GL, Olsen J, Baglia L, Stoller JZ, Ackerman KG : Severe Cardiac Outflow Tract Defects Are Associated with a Mutation in the Ciliogenesis Transcription Factor Foxj1 (Platform Presentation). Pediatrics Academic Societies’ Annual Meeting 2013.

Pan H, Zhang T, De Mesmaeker J, Neve A, Benson MA, Latney BC, Werner P, Goldmuntz E, Bhattacharya S, Stoller, JZ: A Dominant Negative JUN mutant is associated with human congenital heart disease and alters a physical and functional interaction with TBX1 (Platform Presentation). Weinstein Cardiovascular Development Conference 2013.

Pan H, Zhang T, Kraft CA, Subbaraj I, De Mesmaeker J, Latney BC, Goldmuntz E, Bhattacharya S, Stoller, JZ: TBX1 Interacts with JUN and a Dominant Negative JUN Missense Mutation Is Associated with Congenital Heart Disease (Platform Presentation). Pediatrics Academic Societies’ Annual Meeting 2013.

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Last updated: 09/03/2014
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