J A Epstein

Summary

Publications

  1. ncbi Migration of cardiac neural crest cells in Splotch embryos
    J A Epstein
    Cardiovascular Division, Department of Medicine and the Department of Cell and Molecular Biology, University of Pennsylvania Medical School, Philadelphia, PA 19104, USA
    Development 127:1869-78. 2000
  2. ncbi Perspective: cardiovascular disease in the postgenomic era--lessons learned and challenges ahead
    Jonathan A Epstein
    Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Endocrinology 143:2045-50. 2002
  3. ncbi Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region
    N Galili
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Dev Dyn 218:102-11. 2000
  4. ncbi PlexinA2 and semaphorin signaling during cardiac neural crest development
    C B Brown
    Department of Medicine, University of Pennsylvania, Philadelphia 19104, USA
    Development 128:3071-80. 2001
  5. ncbi Neural crest migration and mouse models of congenital heart disease
    A D Gitler
    Department of Medicine, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA
    Cold Spring Harb Symp Quant Biol 67:57-62. 2002
  6. ncbi Transgenic rescue of congenital heart disease and spina bifida in Splotch mice
    J Li
    Cardiovascular Division, Department of Medicine, Department of Cell and Developmental Biology and the Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Development 126:2495-503. 1999
  7. ncbi Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome
    F Chen
    Cardiology Division, Department of Medicine, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA
    Genomics 74:219-27. 2001
  8. ncbi Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects
    M M Lakkis
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA
    Dev Biol 212:80-92. 1999
  9. ncbi Pax3 functions in cell survival and in pax7 regulation
    A G Borycki
    Department of Cell and Developmental Biology, Division of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Development 126:1665-74. 1999
  10. pmc Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret
    D Lang
    Cardiovascular Division, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Clin Invest 106:963-71. 2000

Collaborators

  • J Li
  • D Lang
  • N Galili
  • J Cheng
  • X Ma
  • P M Nishina
  • L Jia
  • D R Beier
  • Hanshi Xu
  • ARNO WESSELS
  • Igor B Dawid
  • Xiang Chen
  • C W Lo
  • Xiaoying Wang
  • A R Lehmann
  • Fang Chen
  • A Wynshaw-Boris
  • M M Lu
  • C B Brown
  • M M Lakkis
  • L Feiner
  • B Funke
  • L K Kochilas
  • F Jin
  • A D Gitler
  • A L Webber
  • R K Pandita
  • S Merscher
  • H Schorle
  • C D Loftin
  • T Kudoh
  • B E Morrow
  • J A Raper
  • L Y Marmorstein
  • A G Borycki
  • J P McDonald
  • P X Xu
  • L Kochilas
  • R Toyama
  • D B Trivedi
  • M Dedekian
  • K Tokooya
  • T Schuler
  • N A Hukriede
  • A V Kinev
  • M Nguyen
  • O Smithies
  • B S Jore
  • H F Tiano
  • P Mombaerts
  • J Adams
  • M Lia
  • S G Morham
  • H Beniya
  • C A Lee
  • P Feinstein
  • D Carrion
  • M Lopez
  • R Shiekhattar
  • R G Russell
  • C J Clarke
  • M C Brown
  • J Heyer
  • R Bauerndistel
  • J A Clark
  • B M Hawkins
  • A Kiang
  • R J Xavier
  • R Langenbach
  • A Puech
  • A I Skoultchi
  • J B Kobler
  • G K Chan
  • D A Bochar
  • J Liao
  • M B Demay
  • R Kucherlapati
  • J L Goulet
  • M Tsang
  • S Factor
  • T J Yen
  • S Schultz
  • P Scambler
  • M D Breyer
  • B H Koller
  • A Gitler
  • K S O'SHEA
  • C A Buck
  • C P Emerson
  • J A Golden

Detail Information

Publications29

  1. ncbi Migration of cardiac neural crest cells in Splotch embryos
    J A Epstein
    Cardiovascular Division, Department of Medicine and the Department of Cell and Molecular Biology, University of Pennsylvania Medical School, Philadelphia, PA 19104, USA
    Development 127:1869-78. 2000
    ..These studies suggest that Pax3 is required for fine tuning the migratory behavior of the cardiac neural crest cells while it is not essential for neural crest migration...
  2. ncbi Perspective: cardiovascular disease in the postgenomic era--lessons learned and challenges ahead
    Jonathan A Epstein
    Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Endocrinology 143:2045-50. 2002
    ..In addition, the application and limitations of evolving genetic and genomic technologies to acquired and/or multigenic cardiovascular states including atherosclerosis and high density lipoprotein (HDL) metabolism is discussed...
  3. ncbi Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region
    N Galili
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Dev Dyn 218:102-11. 2000
    ....
  4. ncbi PlexinA2 and semaphorin signaling during cardiac neural crest development
    C B Brown
    Department of Medicine, University of Pennsylvania, Philadelphia 19104, USA
    Development 128:3071-80. 2001
    ..These data suggest a parallel between the function of semaphorin signaling in the central nervous system and in the patterning of cardiac neural crest in the periphery...
  5. ncbi Neural crest migration and mouse models of congenital heart disease
    A D Gitler
    Department of Medicine, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA
    Cold Spring Harb Symp Quant Biol 67:57-62. 2002
  6. ncbi Transgenic rescue of congenital heart disease and spina bifida in Splotch mice
    J Li
    Cardiovascular Division, Department of Medicine, Department of Cell and Developmental Biology and the Pennsylvania Muscle Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Development 126:2495-503. 1999
    ....
  7. ncbi Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome
    F Chen
    Cardiology Division, Department of Medicine, University of Pennsylvania Health System, Philadelphia, Pennsylvania 19104, USA
    Genomics 74:219-27. 2001
    ..Although polymorphisms were identified, our results indicate that mutations in the coding region of LBX2 do not account for Alström syndrome in the six kindreds analyzed...
  8. ncbi Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects
    M M Lakkis
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA
    Dev Biol 212:80-92. 1999
    ..Though other genetic loci and environmental factors affect the incidence of neural tube defects in Splotch mice, these results establish Nf1 as the first known gene to act as a modifier of neural tube defects in Splotch...
  9. ncbi Pax3 functions in cell survival and in pax7 regulation
    A G Borycki
    Department of Cell and Developmental Biology, Division of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Development 126:1665-74. 1999
    ..These results establish that Pax3 has complementary functions in MyoD activation and inhibition of apoptosis in the somitic mesoderm and in repression of Pax7 during neural tube and somite development...
  10. pmc Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret
    D Lang
    Cardiovascular Division, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Clin Invest 106:963-71. 2000
    ..Thus, Pax3, Sox10, and c-Ret are components of a neural crest development pathway, and interruption of this pathway at various stages results in neural crest-related human genetic syndromes...
  11. ncbi Cloning and expression analysis of murine lupin, a member of a novel gene family that is conserved through evolution and associated with Lupus inclusions
    M M Lu
    Cardiology Division, Department of Medicine, University of Pennsylvania Health System, 954 BRB II, 421 Curie Blvd, Philadelphia, PA 19104, USA
    Dev Genes Evol 210:512-7. 2000
    ..In skeletal muscle, expression analysis suggests that Lupin associates with the contractile apparatus...
  12. ncbi Neural crest expression of Cre recombinase directed by the proximal Pax3 promoter in transgenic mice
    J Li
    Cardiovascular Division, Department of Medicine, University of Pennsylvania, Health System, Philadelphia, PA 19104, USA
    Genesis 26:162-4. 2000
  13. ncbi Lbx2, a novel murine homeobox gene related to the Drosophila ladybird genes is expressed in the developing urogenital system, eye and brain
    F Chen
    Department of Medicine, University of Pennsylvania, Philadelphia 19104, USA
    Mech Dev 84:181-4. 1999
    ..From E14.5 to birth, Lbx2 expression is evident in the developing retinal neuroepithelium and the vibrissa...
  14. ncbi Developing models of DiGeorge syndrome
    J A Epstein
    BRB II, Room 954, Cardiovascular Division, Dept of Medicine, University of Pennsylvania Health System, 421 Curie Boulevard, Philadelphia, PA 19104, USA
    Trends Genet 17:S13-7. 2001
    ..Here, the genetic pathways regulating cardiac neural crest development are reviewed and the evidence implicating TBX1 and other genes on chromosome 22q11 in the pathogenesis of DiGeorge syndrome is summarized...
  15. ncbi Gscl, a gene within the minimal DiGeorge critical region, is expressed in primordial germ cells and the developing pons
    N Galili
    The Wistar Institute, Philadelphia, Pennsylvania 19104, USA
    Dev Dyn 212:86-93. 1998
    ..More detailed immunohistochemistry revealed the GSCL in primordial germ cells during migration from the epithelium of the hindgut and later as they colonize the developing gonads. GSCL was not detected in tissues affected in DGS/VCSF...
  16. ncbi A human BRCA2 complex containing a structural DNA binding component influences cell cycle progression
    L Y Marmorstein
    The Wistar Institute, 3601 Spruce Street, Philadelphia, PA 19104, USA
    Cell 104:247-57. 2001
    ..Importantly, antibody microinjection experiments suggest a role for BRCA2/BRAF35 complex in modulation of cell cycle progression...
  17. pmc Pax3 modulates expression of the c-Met receptor during limb muscle development
    J A Epstein
    Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
    Proc Natl Acad Sci U S A 93:4213-8. 1996
    ....
  18. pmc Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function
    P X Xu
    Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 94:11974-9. 1997
    ..Our results demonstrate that Eya gene products can act as transcriptional activators, and they support a role for this molecular function in connective tissue patterning...
  19. ncbi Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart
    M M Lakkis
    Cardiology Division, Department of Medicine and the Department of Cell and Molecular Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Development 125:4359-67. 1998
    ..These results indicate that neurofibromin normally acts to modulate epithelial-mesenchymal transformation and proliferation in the developing heart by down regulating ras activity...
  20. ncbi Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing
    J A Epstein
    Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts
    Genes Dev 8:2022-34. 1994
    ..The functional nonequivalence of the two Pax6 proteins is underscored by a T-->C mutation at position -3 of the alternative splice acceptor site that changes the ratio of the two isoforms and causes a distinct human ocular syndrome...
  21. ncbi Pax3 inhibits myogenic differentiation of cultured myoblast cells
    J A Epstein
    Division of Cardiology, Brigham and Women s Hospital, Boston, Massachusetts, USA
    J Biol Chem 270:11719-22. 1995
    ..These results suggest that Pax3 may suppress the terminal differentiation of migrating limb myoblasts and that the PAX3-forkhead fusion may contribute to the phenotype of alveolar rhabdomyosarcoma by preventing terminal differentiation...
  22. ncbi p57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardium
    L K Kochilas
    Division of Pediatric Cardiology, Children s Hospital of Philadelphia, Pennsylvania, USA
    Pediatr Res 45:635-42. 1999
    ..This result and further structural analysis suggests that the myocardial defect of Splotch embryos is associated with precocious cardiomyocyte differentiation...
  23. ncbi TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
    S Merscher
    Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA
    Cell 104:619-29. 2001
    ..Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS...
  24. ncbi Novel human and mouse homologs of Saccharomyces cerevisiae DNA polymerase eta
    J P McDonald
    Section on DNA Replication, Repair and Mutagenesis, National Institute of Child Health and Human Development, Bethesda, Maryland, 20892 2725, USA
    Genomics 60:20-30. 1999
    ....
  25. ncbi Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption
    L Feiner
    Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
    Development 128:3061-70. 2001
    ..Their entry is disrupted in semaphorin 3C mutant mice. These data suggest that semaphorin 3C promotes crest cell migration into the proximal cardiac outflow tract...
  26. pmc Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding
    H E Xu
    Department of Biology and Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139 USA
    Genes Dev 13:1263-75. 1999
    ....
  27. ncbi Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects
    B Funke
    Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Hum Mol Genet 10:2549-56. 2001
    ..Based upon its pattern of expression in the ear and functional studies of the gene, TbX1 likely plays a central role. Haploinsufficiency of TBX1 may be responsible for ear disorders in VCFS/DGS patients...
  28. ncbi A gene expression screen in zebrafish embryogenesis
    T Kudoh
    Laboratory of Molecular Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 11:1979-87. 2001
    ....
  29. pmc Failure of ductus arteriosus closure and remodeling in neonatal mice deficient in cyclooxygenase-1 and cyclooxygenase-2
    C D Loftin
    Laboratory of Environmental Carcinogenesis and Mutagenesis, Comparative Medicine Branch, National Institutes of Health, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA
    Proc Natl Acad Sci U S A 98:1059-64. 2001
    ..Together, these data establish roles for COX-1, and especially for COX-2, in the transition of the cardiopulmonary circulation at birth...