Pax3

Summary

Gene Symbol: Pax3
Description: paired box gene 3
Alias: Pax-3, splotch, paired box protein Pax-3
Species: mouse

Top Publications

  1. ncbi Molecular genetics of the Pax gene family
    R E Hill
    MRC Human Genetics Unit, Western General Hospital, Scotland, UK
    Curr Opin Cell Biol 4:967-72. 1992
  2. ncbi Pax3 and Pax7 are expressed in commissural neurons and restrict ventral neuronal identity in the spinal cord
    A Mansouri
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, 37077, Gottingen, Germany
    Mech Dev 78:171-8. 1998
  3. ncbi Early embryonic lethality in Bmp5;Bmp7 double mutant mice suggests functional redundancy within the 60A subgroup
    M J Solloway
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Development 126:1753-68. 1999
  4. ncbi Sonic hedgehog controls epaxial muscle determination through Myf5 activation
    A G Borycki
    Department of Cell Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6058, USA
    Development 126:4053-63. 1999
  5. ncbi Lbx1 specifies somatosensory association interneurons in the dorsal spinal cord
    Michael K Gross
    Molecular Neurobiology Laboratory, The Salk Institute, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Neuron 34:535-49. 2002
  6. ncbi Transcription factor Gbx2 acts cell-nonautonomously to regulate the formation of lineage-restriction boundaries of the thalamus
    Li Chen
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
    Development 136:1317-26. 2009
  7. ncbi Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud
    F Bladt
    Max Delbruck Centrum fur Molekulare Medizin, Berlin, Germany
    Nature 376:768-71. 1995
  8. ncbi A Pax3/Pax7-dependent population of skeletal muscle progenitor cells
    Frederic Relaix
    C N R S URA 2578, Department of Developmental Biology, Pasteur Institute, 75724 Paris Cedex 15, France
    Nature 435:948-53. 2005
  9. ncbi Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function
    Charles Keller
    Division of Pediatric Hematology Oncology and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Genes Dev 18:2614-26. 2004
  10. 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

Research Grants

  1. Mechanisms of Neural Crest Cell Development
    Ching Pin Chang; Fiscal Year: 2009
  2. NEUROFIBROMIN, NEURAL CREST AND CARDIAC DEVELOPMENT
    Jonathan A Epstein; Fiscal Year: 2010
  3. Replication Licensing in Genome Stability, Cancer and Aging
    STEVEN PRUITT; Fiscal Year: 2009
  4. NEUROFIBROMIN, NEURAL CREST AND CARDIAC DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2009
  5. Analysis of a Novel Homeobox gene in CV Development
    Jonathan Epstein; Fiscal Year: 2009
  6. Specification of Dorsal Lbx1-Derived Interneurons
    Martyn Goulding; Fiscal Year: 2007
  7. Neurofibromin, Ras & NFAT in Cardiovascular Development
    FRAZ ISMAT; Fiscal Year: 2007
  8. NEUROFIBROMIN, NEURAL CREST AND CARDIAC DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2007
  9. 2005 NNFF Consortium for NF1, NF2 and Schwannomatosis
    Jonathan Epstein; Fiscal Year: 2005
  10. Transcription Factor P53 in Terminal Nephron Different
    Zubaida Saifudeen; Fiscal Year: 2004

Scientific Experts

Detail Information

Publications119 found, 100 shown here

  1. ncbi Molecular genetics of the Pax gene family
    R E Hill
    MRC Human Genetics Unit, Western General Hospital, Scotland, UK
    Curr Opin Cell Biol 4:967-72. 1992
    ..members of the Pax gene family are now known to be responsible for the established mouse developmental phenotypes Splotch, Small eye and undulated; two of these genes are implicated in the human congenital diseases Waardenburg's ..
  2. ncbi Pax3 and Pax7 are expressed in commissural neurons and restrict ventral neuronal identity in the spinal cord
    A Mansouri
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, 37077, Gottingen, Germany
    Mech Dev 78:171-8. 1998
    b>Pax3 and Pax7 are transcription factors sharing high sequence identity and overlapping patterns of expression in particular in the dorsal spinal cord...
  3. ncbi Early embryonic lethality in Bmp5;Bmp7 double mutant mice suggests functional redundancy within the 60A subgroup
    M J Solloway
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA
    Development 126:1753-68. 1999
    ..These findings are discussed with respect to potential mechanisms underlying cooperative signaling by multiple members of the TGF-beta superfamily...
  4. ncbi Sonic hedgehog controls epaxial muscle determination through Myf5 activation
    A G Borycki
    Department of Cell Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6058, USA
    Development 126:4053-63. 1999
    ....
  5. ncbi Lbx1 specifies somatosensory association interneurons in the dorsal spinal cord
    Michael K Gross
    Molecular Neurobiology Laboratory, The Salk Institute, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Neuron 34:535-49. 2002
    ..Lbx1, therefore, plays a critical role in the development of sensory pathways in the spinal cord that relay pain and touch...
  6. ncbi Transcription factor Gbx2 acts cell-nonautonomously to regulate the formation of lineage-restriction boundaries of the thalamus
    Li Chen
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
    Development 136:1317-26. 2009
    ..We propose that, within the developing thalamus, the dynamic and differential expression of Gbx2 may be involved in the specific segregation of thalamic neurons, leading to partition of the thalamus into different nuclei...
  7. ncbi Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud
    F Bladt
    Max Delbruck Centrum fur Molekulare Medizin, Berlin, Germany
    Nature 376:768-71. 1995
    ..We have therefore identified a paracrine signalling system that regulates migration of myogenic precursor cells...
  8. ncbi A Pax3/Pax7-dependent population of skeletal muscle progenitor cells
    Frederic Relaix
    C N R S URA 2578, Department of Developmental Biology, Pasteur Institute, 75724 Paris Cedex 15, France
    Nature 435:948-53. 2005
    ..We have identified a new cell population that expresses the transcription factors Pax3 and Pax7 (paired box proteins 3 and 7) but no skeletal-muscle-specific markers...
  9. ncbi Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function
    Charles Keller
    Division of Pediatric Hematology Oncology and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Genes Dev 18:2614-26. 2004
    ..We report the first mouse model of alveolar rhabdomyosarcoma using a conditional Pax3:Fkhr knock-in allele whose activation in late embryogenesis and postnatally is targeted to terminally ..
  10. 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
    ..Mutations in Pax-3 account for the mouse mutant Splotch which develops without limb musculature...
  11. ncbi Roles of Pax-genes in developing and adult brain as suggested by expression patterns
    A Stoykova
    Department of Molecular Cell Biology, Max Planck Institute for Biophysical Chemistry, Gottingen, Germany
    J Neurosci 14:1395-412. 1994
    ....
  12. ncbi Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells
    E Bober
    Department of Cell and Molecular Biology, Technical University of Braunschweig, Germany
    Development 120:603-12. 1994
    ..Significantly, in homozygous splotch mutant mice, which synthesize altered Pax-3 mRNA but make no normal protein, no cells positive for Pax-3 ..
  13. ncbi The transcriptional activator PAX3-FKHR rescues the defects of Pax3 mutant mice but induces a myogenic gain-of-function phenotype with ligand-independent activation of Met signaling in vivo
    Frederic Relaix
    CNRS URA 2375, Department of Developmental Biology, Pasteur Institute, 75724 Paris Cedex 15, France
    Genes Dev 17:2950-65. 2003
    b>Pax3 is a key transcription factor implicated in development and human disease...
  14. ncbi Sequential expression and redundancy of Pitx2 and Pitx3 genes during muscle development
    Aurore L'honoré
    Laboratoire de Genetique Moleculaire, Institut de recherches cliniques de Montreal IRCM, 110, avenue des Pins Ouest, Montreal, QC, Canada H2W 1R7
    Dev Biol 307:421-33. 2007
    ..factors acting during muscle development, including bHLH muscle regulatory factors (MRFs), the paired factors Pax3 and Pax7 and the homeobox factors Six1 and Six4...
  15. ncbi Evidence for a myotomal Hox/Myf cascade governing nonautonomous control of rib specification within global vertebral domains
    Tânia Vinagre
    Instituto Gulbenkian de Ciencia, Rua da Quinta Grande 6, 2780 156 Oeiras, Portugal
    Dev Cell 18:655-61. 2010
    ..Our findings offer a new perspective of how Hox genes produce global patterns in the axial skeleton and support a redundant nonmyogenic role of Myf5 and Myf6 in rib formation...
  16. ncbi The role of Lbx1 in migration of muscle precursor cells
    H Brohmann
    Max Delbruck Centre for Molecular Medicine, Robert Rossle Strasse 10, Germany
    Development 127:437-45. 2000
    ..We suggest that Lbx1 controls the expression of genes that are essential for the recognition or interpretation of cues that guide migrating muscle precursors and maintain their migratory potential...
  17. ncbi Early specification of limb muscle precursor cells by the homeobox gene Lbx1h
    K Schafer
    Institute of Physiological Chemistry, Martin Luther University Halle, 06097 Halle, Hollystr 1, Germany
    Nat Genet 23:213-6. 1999
    ..6), Tbx1 (ref. 7), Mox2 (ref. 8), Six1 and Six2 (ref. 9), Pitx2, Pax3 (refs 10,11) and Lbx1h (refs 12,13), are expressed in migrating limb precursor cells...
  18. ncbi Pax3 acts cell autonomously in the neural tube and somites by controlling cell surface properties
    A Mansouri
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D 37077 Gottingen, Germany
    Development 128:1995-2005. 2001
    ..Several loss-of-function mutations are correlated with the Splotch phenotype in mice and Waardenburg syndrome in humans...
  19. ncbi Pax3 induces cell aggregation and regulates phenotypic mesenchymal-epithelial interconversion
    O Neil Wiggan
    Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Ontario, M5S 1A8 Canada
    J Cell Sci 115:517-29. 2002
    ..Although mutations to Pax3 and other Pax-family genes in both mice and humans result in numerous tissue-specific morphological defects, little ..
  20. ncbi Divergent functions of murine Pax3 and Pax7 in limb muscle development
    Frederic Relaix
    Centre National de la Recherche Scientifique CNRS URA 2578, Department of Developmental Biology, Pasteur Institute, 75724 Paris Cedex 15, France
    Genes Dev 18:1088-105. 2004
    Pax genes encode evolutionarily conserved transcription factors that play critical roles in development. Pax3 and Pax7 constitute one of the four Pax subfamilies...
  21. 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
    ..and gene expression in presomitic mesoderm, somites and neural tube of developing wild-type and Pax3 mutant (Splotch) mouse embryos...
  22. ncbi The homeobox gene Lbx1 specifies a subpopulation of cardiac neural crest necessary for normal heart development
    Konstanze Schäfer
    Institute of Physiological Chemistry, University of Halle Wittenberg, Halle, Germany
    Circ Res 92:73-80. 2003
    ..activity of the Lbx1 promoter, as indicated by a LacZ reporter gene, is upregulated in the hearts of Lbx1(+/-):splotch(1H)/splotch(1H) and Lbx1(-/-) mice, indicating that Pax3 and Lbx1 participate in a negative regulatory feedback ..
  23. ncbi Mox2 is a component of the genetic hierarchy controlling limb muscle development
    B S Mankoo
    Division of Developmental Neurobiology, MRC National Institute for Medical Research, London, UK
    Nature 400:69-73. 1999
    ..encoding the basic helix-loop-helix (bHLH) myogenic regulatory factors (MRFs; MyoD, Myf5, myogenin and MRF4) and Pax3, a paired-type homeobox gene that is critical for the development of limb musculature...
  24. ncbi PAX3 gene structure, alternative splicing and evolution
    T D Barber
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Gene 237:311-9. 1999
    ..syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma in humans and the Splotch phenotype in mice...
  25. ncbi Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3- dependent development and tumorigenesis
    Lydie Pani
    Section on Cellular and Molecular Physiology, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts 02215, USA
    Genes Dev 16:676-80. 2002
    ..We previously showed that apoptosis is associated with neural tube defects (NTDs) in Pax-3-deficient Splotch (Sp/Sp) embryos...
  26. ncbi Lbx1 is required for muscle precursor migration along a lateral pathway into the limb
    M K Gross
    Molecular Neurobiology Laboratory, The Salk Institute, La Jolla, CA 92037, USA
    Development 127:413-24. 2000
    ..Previous studies have shown that Pax3, together with the c-Met receptor tyrosine kinase and its ligand Scatter Factor (SF) are necessary for the ..
  27. 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
    ..In the absence of Pax3, both humans and mice develop with neural crest defects. Homozygous Splotch embryos that lack Pax3 die by embryonic day 13...
  28. ncbi A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb
    Lola Bajard
    Centre National de la Recherche Scientifique URA 2578, Department of Developmental Biology, Pasteur Institute, 75015 Paris, France
    Genes Dev 20:2450-64. 2006
    ..Null mutations in Pax3, a key regulator of skeletal muscle formation, lead to cell death in this domain...
  29. ncbi Pax3 functions at a nodal point in melanocyte stem cell differentiation
    Deborah Lang
    Cardiovascular Division, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nature 433:884-7. 2005
    ..Here we describe the molecular details of a nodal point in adult melanocyte stem cell differentiation in which Pax3 simultaneously functions to initiate a melanogenic cascade while acting downstream to prevent terminal ..
  30. ncbi A Pax3/Dmrt2/Myf5 regulatory cascade functions at the onset of myogenesis
    Takahiko Sato
    Department of Developmental Biology, Centre National de la Recherche Scientifique, Unité de Recherche Associée 2578, Institut Pasteur, Paris, France
    PLoS Genet 6:e1000897. 2010
    ..These multipotent stem cells express Pax3, and this expression is maintained in the myogenic lineage where Pax3 plays an important role...
  31. ncbi Pax3:Foxc2 reciprocal repression in the somite modulates muscular versus vascular cell fate choice in multipotent progenitors
    Mounia Lagha
    CNRS URA 2578, Departement de Biologie du Developpement, Institut Pasteur, 75015 Paris, France
    Dev Cell 17:892-9. 2009
    ..to different lineages such as vascular smooth and skeletal muscle, regulated by the transcription factors Foxc2 and Pax3, respectively. Here we show reciprocal inhibition between Pax3 and Foxc2 in the mouse embryo...
  32. ncbi Muscle stem cell behavior is modified by microRNA-27 regulation of Pax3 expression
    Colin G Crist
    Centre National de Recherche Scientifique Unité de Recherche Associée 2578, Department of Developmental Biology, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Proc Natl Acad Sci U S A 106:13383-7. 2009
    Skeletal muscle stem cells are regulated by Pax3/7...
  33. ncbi Id3 is a direct transcriptional target of Pax7 in quiescent satellite cells
    Deepak Kumar
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA
    Mol Biol Cell 20:3170-7. 2009
    Pax7 is a key regulator of skeletal muscle stem cells and is required along with Pax3 to generate skeletal muscle precursors. We have identified a collection of genes induced by either Pax3 or Pax7 in C2C12 muscle cells...
  34. ncbi Sim1 and Sim2 expression during chick and mouse limb development
    Pascal Coumailleau
    CNRS, UMR7622, Biologie Moleculaire et Cellulaire du Developpement, Universite Pierre et Marie Curie, Paris, France
    Int J Dev Biol 53:149-57. 2009
    ..In addition, chick and mouse Sim2 gene expression is enhanced in limb ventral muscle masses versus dorsal ventral muscle masses. Our results provide a basis for further functional analysis of the Sim genes in limb muscle formation...
  35. ncbi SMD and NMD are competitive pathways that contribute to myogenesis: effects on PAX3 and myogenin mRNAs
    Chenguang Gong
    Department of Biochemistry and Biophysics, School of Medicine and Dentistry, University of Rochester, Rochester, New York 14642, USA
    Genes Dev 23:54-66. 2009
    ..We discuss the remarkable balance between SMD and the two types of NMD in view of data indicating that PAX3 mRNA is an SMD target whose decay promotes myogenesis whereas myogenin mRNA is a classical NMD target encoding a ..
  36. ncbi Pax3 regulation of FGF signaling affects the progression of embryonic progenitor cells into the myogenic program
    Mounia Lagha
    CNRS URA 2578, Department of Developmental Biology, Pasteur Institute, 75015 Paris, France
    Genes Dev 22:1828-37. 2008
    b>Pax3/7-dependent stem cells play an essential role in skeletal muscle development. We now show that Fgfr4 lies genetically downstream from Pax3 and is a direct target...
  37. ncbi Dmrt2 and Pax3 double-knockout mice show severe defects in embryonic myogenesis
    Kwang Won Seo
    Department of Biochemistry and Molecular Biology, MD Anderson Cancer Center, Houston, TX, USA
    Comp Med 57:460-8. 2007
    ..Several transcription factors from the dermomyotome affect embryonic myogenesis. Among these, Dmrt2 and Pax3 were tested for genetic and functional interactions during embryonic myogenesis by evaluating myogenin and desmin ..
  38. ncbi Regulation of Pax3 by proteasomal degradation of monoubiquitinated protein in skeletal muscle progenitors
    Stéphane C Boutet
    Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA
    Cell 130:349-62. 2007
    b>Pax3 and Pax7 play distinct but overlapping roles in developmental and postnatal myogenesis. The mechanisms involved in the differential regulation of these highly homologous proteins are unknown...
  39. ncbi RBP-J (Rbpsuh) is essential to maintain muscle progenitor cells and to generate satellite cells
    Elena Vasyutina
    Max Delbruck Center for Molecular Medicine, Robert Rossle Strasse 10, 13125 Berlin, Germany
    Proc Natl Acad Sci U S A 104:4443-8. 2007
    ..In addition, satellite cells are not formed late in fetal development in conditional RBP-J mutant mice. We conclude that RBP-J is required in the developing muscle to set aside proliferating progenitors and satellite cells...
  40. ncbi Premature myogenic differentiation and depletion of progenitor cells cause severe muscle hypotrophy in Delta1 mutants
    Karin Schuster-Gossler
    Institute for Molecular Biology, Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, Hannover, D 30625 Lower Saxony, Germany
    Proc Natl Acad Sci U S A 104:537-42. 2007
    ..Resident progenitor cells defined by Pax3/Pax7 expression are formed initially, but they are progressively lost and virtually absent at embryonic day 14.5...
  41. ncbi Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells
    Frederic Relaix
    Unité de Génétique Moléculaire du Développement, Centre National de la Recherche Scientifique URA 2578, Departement de Biologie du Developpement
    J Cell Biol 172:91-102. 2006
    ..We show that Pax3, the paralogue of Pax7, is also present in both quiescent and activated satellite cells in many skeletal muscles...
  42. ncbi CXCR4 and Gab1 cooperate to control the development of migrating muscle progenitor cells
    Elena Vasyutina
    Max Delbruck Center for Molecular Medicine, 13125 Berlin, Germany
    Genes Dev 19:2187-98. 2005
    ..Our analysis reveals a role of SDF1/CXCR4 signaling in the development of migrating muscle progenitors and shows that a threshold number of progenitor cells is required to generate muscle of appropriate size...
  43. ncbi Pax3/Pax7 mark a novel population of primitive myogenic cells during development
    Lina Kassar-Duchossoy
    Department of Developmental Biology, Pasteur Institute, Centre Nationale de la Recherche Scientifique Unité de Recherche Associeé 2578, 75724 Paris, Cedex 15, France
    Genes Dev 19:1426-31. 2005
    ..We identify a novel population of resident Pax3+/Pax7+, muscle marker-negative cells throughout development...
  44. ncbi Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives
    Kurt A Engleka
    Cardiovascular Division, University of Pennsylvania, Philadelphia, 19104, USA
    Dev Biol 280:396-406. 2005
    ..Pax3-deficient Splotch embryos display neural tube and neural crest defects and lack hypaxial muscles...
  45. ncbi Targeted disruption of the DM domain containing transcription factor Dmrt2 reveals an essential role in somite patterning
    Kwang Won Seo
    Department of Biochemistry and Molecular Biology, University of Texas, MD Anderson Cancer Center, Houston, 77030, USA
    Dev Biol 290:200-10. 2006
    ..defects are alterations in the expression patterns of dermomyotomal and myotomal transcription factors including Pax3, Paraxis, Myf5, myogenin, Mrf4 and MyoD. Despite these defects, embryos harvested from E13...
  46. ncbi Signals from the notochord and floor plate regulate the region-specific expression of two Pax genes in the developing spinal cord
    M D Goulding
    Department of Molecular Cell Biology, Max Planck Institute for Biophysical Chemistry, Gottingen, Germany
    Development 117:1001-16. 1993
    ..The rapid changes to Pax gene expression that occur in neural progenitor cells following the grafting of an ectopic notochord suggest that changes to Pax gene expression are an early effect of the notochord on spinal cord patterning...
  47. ncbi 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
    ..Here, we show that c-met expression is markedly reduced in the lateral dermomyotome of Splotch embryos lacking Pax3...
  48. ncbi Regulation of Pax-3 expression in the dermomyotome and its role in muscle development
    M Goulding
    Molecular Neurobiology Laboratory, Salk Institute, La Jolla, CA 92037, USA
    Development 120:957-71. 1994
    ..gene in the differentiation of cell types derived from the dermomyotome by analyzing the development of muscle in splotch mouse embryos which lack a functional Pax-3 gene...
  49. ncbi Pax3: a paired domain gene as a regulator in PNS myelination
    C Kioussi
    Abteilung für Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Federal Republic of Germany
    Neuron 15:553-62. 1995
    b>Pax3 RNA is expressed in neural crest when Schwann cell (SC) precursors migrate to the PNS. Pax3 RNA and SC markers were monitored in sciatic nerves of mice during development and nerve repair...
  50. ncbi Codependent activators direct myoblast-specific MyoD transcription
    Ping Hu
    Howard Hughes Medical Institute, Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA 94720, USA
    Dev Cell 15:534-46. 2008
    ..Here, we identify MyoD, a key regulator of myogenesis, as a direct target of FoxO3 and Pax3/7 in myoblasts...
  51. ncbi Neural tube defects in embryos of diabetic mice: role of the Pax-3 gene and apoptosis
    S A Phelan
    Section on Molecular Biology, Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts 02215, USA
    Diabetes 46:1189-97. 1997
    ..This pathway may be responsible for many of the neural tube defects resulting from diabetic pregnancy...
  52. ncbi Mesodermal defects and cranial neural crest apoptosis in alpha5 integrin-null embryos
    K L Goh
    Center for Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge 02139, USA
    Development 124:4309-19. 1997
    ....
  53. ncbi Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
    D J Epstein
    Department of Biology, McGill University, Montreal, Canada
    Cell 67:767-74. 1991
    The molecular basis of the mouse mutation splotch (Sp), which is associated with spina bifida and exencephaly, was analyzed at three of its alleles, Sp, Sp2H, and Spr...
  54. ncbi Persistent truncus arteriosus in the Splotch mutant mouse
    T Franz
    Anatomisches Institut, Universitäts Krankenhans Eppendorf, Hamburg, Federal Republic of Germany
    Anat Embryol (Berl) 180:457-64. 1989
    The Splotch mutant mouse shows defects in neural crest-derived cell populations...
  55. ncbi Requirement for LIM homeobox gene Isl1 in motor neuron generation reveals a motor neuron-dependent step in interneuron differentiation
    S L Pfaff
    Howard Hughes Medical Institute, Department of Biochemistry and Molecule Biophysics, Columbia University, New York, New York 10032, USA
    Cell 84:309-20. 1996
    ..These results show that ISL1 is required for the generation of motor neurons and suggest that motor neuron generation is required for the subsequent differentiation of certain interneurons...
  56. ncbi Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice
    A Mansouri
    Department of Molecular Cell Biology, Max Planck Institute for Biophysical Chemistry, Gottingen, Germany
    Development 122:831-8. 1996
    ..No obvious phenotype could be detected in the central nervous system and skeletal muscle. Functional redundancy between Pax7 and Pax3 is discussed.
  57. ncbi Apoptosis of epaxial myotome in Danforth's short-tail (Sd) mice in somites that form following notochord degeneration
    A Asakura
    Division of Molecular Medicine, Fred Hutchinson Cancer Research Center, 1124 Columbia Street, Seattle, Washington, 98104, USA
    Dev Biol 203:276-89. 1998
    ..The apoptosis of epaxial muscle in somites that formed after notochord degeneration is consistent with a role for the notochord in the survival and differentiation of the dorsal myotome...
  58. ncbi Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant
    S J Conway
    Division of Cell and Molecular Biology, Institute of Child Health, University of London, UK
    Development 124:505-14. 1997
    ..Mutation of Pax3, as occurs in the splotch (Sp2H) mouse, results in development of conotruncal heart defects including persistent truncus arteriosus...
  59. ncbi The Splotch mutation interferes with muscle development in the limbs
    T Franz
    Anatomisches Institut, Abteilung fur Neuroanatomie, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Anat Embryol (Berl) 187:153-60. 1993
    Homozygosity for the Splotch mutation causes neural tube and neural crest defects in mice. It has been demonstrated that Splotch mutant mice carry mutations in the homeodomain of the Pax-3 gene...
  60. ncbi Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma
    Thomas D Barber
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA
    Genomics 79:278-84. 2002
    b>PAX3 is a transcription factor important for neural, muscle, and facial development in vertebrates...
  61. ncbi Ectopic Pax-3 activates MyoD and Myf-5 expression in embryonic mesoderm and neural tissue
    M Maroto
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Cell 89:139-48. 1997
    ..Together, these findings imply that Pax-3 may mediate activation of MyoD and Myf-5 in response to muscle-inducing signals from either the axial tissues or overlying ectoderm and identify Pax-3 as a key regulator of somitic myogenesis...
  62. ncbi Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest
    Stanford J Kwang
    Center for Craniofacial Molecular Biology, School of Dentistry, University of Southern California, 1441 Eastlake Avenue, Los Angeles, CA 90089 9176, USA
    Development 129:527-38. 2002
    ..In Splotch mutant mice, which lack a functional Pax3 gene, migration of cardiac neural crest is deficient and ..
  63. ncbi The oncogenic fusion protein Pax3-FKHR has a greater post-translational stability relative to Pax3 during early myogenesis
    Patrick J Miller
    Department of Genetics, Louisiana State University Health Sciences Center, 533 Bolivar Street, New Orleans, LA 70112, USA
    Biochim Biophys Acta 1770:1450-8. 2007
    ..chromosomal translocation, which results in the fusion of two transcription factors important for myogenesis, Pax3 and FKHR (FOX01a). The effects of myogenic differentiation on the stability of FKHR have been well characterized...
  64. ncbi Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD
    S Tajbakhsh
    Department of Molecular Biology, Centre National de la Recherche Scientifique, Unité de Recherche Associe 1947, Pasteur Institute, Paris, France
    Cell 89:127-38. 1997
    We analyzed Pax-3 (splotch), Myf-5 (targeted with nlacZ), and splotch/Myf-5 homozygous mutant mice to investigate the roles that these genes play in programming skeletal myogenesis...
  65. ncbi Graded expression of Zfp462 in the embryonic mouse cerebral cortex
    Yuh Shin Chang
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Am Fassberg, 37077 Goettingen, Germany
    Gene Expr Patterns 7:405-12. 2007
    ..This family includes transcription factor-encoding genes such as COUP-TF1, Emx2 and Pax6, which have been implicated in the process of cortical arealization...
  66. ncbi Regulated expression of Brachyury(T), Nkx1.1 and Pax genes in embryoid bodies
    G Yamada
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Gottingen, Germany
    Biochem Biophys Res Commun 199:552-63. 1994
    ..1 were used. We could demonstrate that the expression of these genes in vitro was regulated by growth factors such as activin A or bFGF. Implications of these findings and the possible applications for identifying new genes are discussed...
  67. ncbi Regulation of murine TGFbeta2 by Pax3 during early embryonic development
    Chandra S K Mayanil
    Laboratory of Neural Tube Research, Department of Pediatric Neurosurgery, Children s Memorial Research Center and Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA
    J Biol Chem 281:24544-52. 2006
    Previously our laboratory identified TGFbeta2 as a potential downstream target of Pax3 by utilizing microarray analysis and promoter data base mining (Mayanil, C. S. K., George, D., Freilich, L., Miljan, E. J., Mania-Farnell, B. J...
  68. ncbi Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development
    Chrissa Kioussi
    Howard Hughes Medical Institute, University of California, San Diego, School of Medicine, CMM West, Room 345, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Cell 111:673-85. 2002
    ....
  69. ncbi Characterization of a region-specific library of microclones in the vicinity of the Bcg and splotch loci on mouse chromosome 1
    D J Epstein
    Department of Biology, McGill University, Montreal, Quebec
    Genomics 19:163-6. 1994
    ..linked to the host resistance locus Bcg and at least one was found to be linked to the neural tube defect mutant splotch. Other clones mapped to intervals containing several other mouse mutants...
  70. ncbi Early sialylation on N-CAM in splotch neural tube defect mouse embryos
    S A Neale
    Department of Biology, McGill University, Montreal, Quebec, Canada
    Teratology 50:118-24. 1994
    The splotch (Sp) mutant mouse is a model for neural tube defects and Waardenburg syndrome type I...
  71. ncbi Pax3 transcripts in melanoblast development
    Judith A Blake
    School of Exercise, Biomedical and Health Science, Edith Cowan University, 100 Joondalup Drive, Joondalup, Western Australia 6027, Australia
    Dev Growth Differ 47:627-35. 2005
    The transcription factor encoded by PAX3 is among the first expressed in the embryo, with a key role in development of the melanocytic lineage...
  72. ncbi Interaction between splotch (Sp) and curly tail (ct) mouse mutants in the embryonic development of neural tube defects
    J P Estibeiro
    Department of Zoology, University of Oxford, UK
    Development 119:113-21. 1993
    The mouse mutations splotch (Sp) and curly tail (ct) both produce spinal neural tube defects with closely similar morphology, but achieve this by different embryonic mechanisms...
  73. ncbi Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain
    Cynthia L Andoniadou
    Neural Development Unit, UCL Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK
    Development 134:1499-508. 2007
    ..However, conditional expression of Hesx1 within the AFB can rescue the forebrain defects observed in the Hesx1 mutants. The results presented here provide new insights into the function of Hesx1 in forebrain formation...
  74. ncbi Myogenin is in an evolutionarily conserved linkage group on human chromosome 1q31-q41 and unlinked to other mapped muscle regulatory factor genes
    E Olson
    Department of Biochemistry and Molecular Biology, University of Texas, M D Anderson Cancer Center, Houston 77030
    Genomics 8:427-34. 1990
    ..The results verify the nonlinkage of MYOG to MYOD1, MYF5, and MYF6 genes and indicate that events associated with the duplication of MYOG with respect to MYOD1, MYF5, or MYF6 loci were not chromosome-wide...
  75. ncbi N-CAM alterations in splotch neural tube defect mouse embryos
    C E Moase
    Department of Biology, McGill University, Montreal, Quebec, Canada
    Development 113:1049-58. 1991
    The splotch (Sp) mouse is a model for both neurulation defects and defects in neural crest cell (NCC) derivatives...
  76. ncbi Trps1 functions downstream of Bmp7 in kidney development
    Zhibo Gai
    First Department of Pathology, Wakayama Medical University Medical School, 811 1 Kimiidera, Wakayama 641 0012, Japan
    J Am Soc Nephrol 20:2403-11. 2009
    ..Taken together, these findings suggest that normal formation of nephrons requires Trps1, which mediates mesenchymal-to-epithelial transition and ureteric bud branching during early renal development...
  77. ncbi Autocrine and paracrine angiopoietin 1/Tie-2 signaling promotes muscle satellite cell self-renewal
    Rana Abou-Khalil
    INSERM, U955, Creteil, France
    Cell Stem Cell 5:298-309. 2009
    ..We propose that Ang1/Tie-2 signaling regulates mpc self-renewal by controlling the return to quiescence of a subset of satellite cells...
  78. ncbi Distinct origins and genetic programs of head muscle satellite cells
    Itamar Harel
    Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel
    Dev Cell 16:822-32. 2009
    ..We used fate-mapping techniques in avian and mouse models to show that trunk (Pax3(+)) and cranial (MesP1(+)) skeletal muscle and satellite cells derive from separate genetic lineages...
  79. ncbi Pax-3, a novel murine DNA binding protein expressed during early neurogenesis
    M D Goulding
    Max Planck Institute for Biophysical Chemistry, Gottingen, Germany
    EMBO J 10:1135-47. 1991
    ..In 10-12 day embryos, expression of Pax-3 is also seen in neural crest cells of the developing spinal ganglia, the craniofacial mesectoderm and in limb mesenchyme of 10 and 11 day embryos...
  80. ncbi Embryonic and fetal limb myogenic cells are derived from developmentally distinct progenitors and have different requirements for beta-catenin
    David A Hutcheson
    Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA
    Genes Dev 23:997-1013. 2009
    ..b>Pax3 and Pax7 are expressed by somitic myogenic progenitors and are critical myogenic determinants...
  81. ncbi Embryonic folate metabolism and mouse neural tube defects
    A Fleming
    Neural Development Unit, Institute of Child Health, University College London, London WC1N 1EH, UK
    Science 280:2107-9. 1998
    ..The deoxyuridine suppression test detects disturbance of folate metabolism in homozygous splotch (Pax3) mouse embryos that are developing NTDs in vitro...
  82. ncbi Increased thymus- and decreased parathyroid-fated organ domains in Splotch mutant embryos
    Ann V Griffith
    Department of Carcinogenesis, University of Texas MD Anderson Cancer Center, Science Park Research Division, Smithville, TX 78957, USA
    Dev Biol 327:216-27. 2009
    Embryos that are homozygous for Splotch, a null allele of Pax3, have a severe neural crest cell (NCC) deficiency that generates a complex phenotype including spina bifida, exencephaly and cardiac outflow tract abnormalities...
  83. ncbi Reduction in the frequency of neural tube defects in splotch mice by retinoic acid
    C M Kapron-Brás
    Teratology 32:87-92. 1985
    In the homozygous state, the splotch (Sp) gene causes spina bifida and exencephaly. Close to 25% of the embryos from Sp/ + X Sp/+ litters are affected...
  84. ncbi Transcriptional regulation by Pax3 and TGFbeta2 signaling: a potential gene regulatory network in neural crest development
    Hiromichi Nakazaki
    Laboratory of Neural Tube Research, Department of Pediatric Neurosurgery, Childrens Memorial Research Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60614, USA
    Int J Dev Biol 53:69-79. 2009
    b>Pax3 regulates neural crest cell migration and is critical during neural crest development. TGFbs modify neural crest cell migration and differentiation...
  85. ncbi Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling
    Helen A Thomason
    Faculty of Medical and Human Sciences, Michael Smith Building, University of Manchester, Oxford Road, Manchester, M13 9PT, England, UK
    Dev Biol 321:273-82. 2008
    ..Our results are consistent with a role for Tp63 in the regulation of Bmp signaling controlling the growth, modelling and fusion events underlying facial development and shed new light on the complex abnormality of facial clefting...
  86. ncbi A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch
    P Tremblay
    Abteilung für Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Germany
    Dev Biol 171:317-29. 1995
    ..Development in the absence of Pax3 can be studied in Splotch mutant mice, which bear mutations within the Pax3 gene...
  87. ncbi Gsh2 is required for the repression of Ngn1 and specification of dorsal interneuron fate in the spinal cord
    Sonja Kriks
    Molecular Neurobiology Laboratory, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Development 132:2991-3002. 2005
    ..Our results provide evidence that genetic interactions involving repression of Ngn1 by Gsh2 promote the differentiation of dI3 neurons from class A progenitors...
  88. ncbi Smad1 and Smad8 function similarly in mammalian central nervous system development
    Mark Hester
    Department of Molecular Genetics and Division of Human Cancer Genetics, Ohio State University, 484 W 12th Ave, Columbus, OH 43210, USA
    Mol Cell Biol 25:4683-92. 2005
    ..5. These observations suggest that BMP-responsive Smads have critical functions in the development of the mammalian central nervous system...
  89. ncbi Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somites
    F R Schubert
    King s College London, MRC Centre for Developmental Neurobiology, New Hunt s House, London, United Kingdom
    Dev Dyn 222:506-21. 2001
    ..However, the allelic series of Pax3/Splotch mutants also displays characteristic vertebral column malformations, which do not result from defective ..
  90. ncbi Identification and sequencing the juvenile spermatogonial depletion critical interval on mouse chromosome 1 reveals the presence of eight candidate genes
    H L Boettger-Tong
    Department of Obstetrics and Gynecology, Baylor College of Medicine, 6550 Fannin, Suite 861, Houston, TX 77030, USA
    Biochem Biophys Res Commun 288:1129-35. 2001
    ..The critical 0.4 cM jsd interval corresponds to a physical distance of approximately 1.5 Mb. Eight genes have been identified in this interval, two of which appear to be possible candidates for the jsd mutation...
  91. ncbi The winged-helix transcription factor Foxd3 suppresses interneuron differentiation and promotes neural crest cell fate
    M Dottori
    Molecular Neurobiology Laboratory, The Salk Institute, 10010 North Torrey Pines Rd, La Jolla, CA 92037, USA
    Development 128:4127-38. 2001
    ..Foxd3 is genetically downstream of Pax3 and is not expressed in regions of Pax3 mutant mice that lack neural crest, implying that Foxd3 may regulate ..
  92. ncbi Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf
    T J Hornyak
    The Ronald O Perelman Department of Dermatology, New York University Medical Center, NY 10016, New York, USA
    Mech Dev 101:47-59. 2001
    ..Transgenic mice were intercrossed with two murine coat color mutants, Splotch (Sp), containing a mutation in the murine Pax3 gene, and Mitf(mi), with a mutation in the basic-helix-loop-helix-..
  93. 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
  94. ncbi Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6
    D L Chapman
    Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York, New York 10032, USA
    Nature 391:695-7. 1998
    ....
  95. ncbi HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3
    P Magnaghi
    Molecular Medicine Unit, Institute of Child Health, London, UK
    Nat Genet 20:74-7. 1998
    ..Pax3 haploinsufficiency results in the mouse splotch and human Waardenburg syndrome (WSI and WSIII) phenotypes...
  96. ncbi Abnormal skeletogenesis occurs coincident with increased apoptosis in the Splotch (Sp2H) mutant: putative roles for Pax3 and PDGFRalpha in rib patterning
    E D Dickman
    Institute of Molecular Medicine and Genetics and Department of Cell Biology and Anatomy, Medical College of Georgia, Augusta 30912, USA
    Anat Rec 255:353-61. 1999
    ..We have used the Splotch mouse which has a mutation in the Pax3 gene to determine what role Pax3 may play in rib morphogenesis...
  97. ncbi Identification of Dep-1, a new gene regulated by the transcription factor Pax-3, as a marker for altered embryonic gene expression during diabetic pregnancy
    J Cai
    Joslin Diabetes Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA
    Diabetes 47:1803-5. 1998
  98. ncbi Hoxa2 and Hoxb2 control dorsoventral patterns of neuronal development in the rostral hindbrain
    M Davenne
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale Université Louis Pasteur, College de France, Strasbourg
    Neuron 22:677-91. 1999
    ....
  99. 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
    Pax3-deficient Splotch mice display neural tube defects and an array of neural crest related abnormalities including defects in the cardiac outflow tract, dorsal root ganglia and pigmentation...
  100. ncbi Angiogenesis defects and mesenchymal apoptosis in mice lacking SMAD5
    X Yang
    Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Development 126:1571-80. 1999
    ..These data suggest that SMAD5 may regulate endothelium-mesenchyme interactions during angiogenesis and that it is essential for mesenchymal survival...
  101. ncbi BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation
    Jong Sun Kang
    Department of Biochemistry and Molecular Biology, Mount Sinai School of Medicine, New York, NY 10029, USA
    EMBO J 21:114-24. 2002
    ..CDO and BOC are proposed to be components of a receptor complex that mediates some of the cell-cell interactions between muscle precursors that are required for myogenesis...

Research Grants63

  1. Mechanisms of Neural Crest Cell Development
    Ching Pin Chang; Fiscal Year: 2009
    ..Aim #3: Define the molecular pathways affected by the absence of Pbx1. We will use standard molecular biology and embryology methods to study if Pax3 pathway is downstream of Pbx1 in cardiac development.
  2. NEUROFIBROMIN, NEURAL CREST AND CARDIAC DEVELOPMENT
    Jonathan A Epstein; Fiscal Year: 2010
    ....
  3. Replication Licensing in Genome Stability, Cancer and Aging
    STEVEN PRUITT; Fiscal Year: 2009
    ..Defining this mechanism will yield important insights into the etiology of cancer and age related dysfunction. ..
  4. NEUROFIBROMIN, NEURAL CREST AND CARDIAC DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2009
    ....
  5. Analysis of a Novel Homeobox gene in CV Development
    Jonathan Epstein; Fiscal Year: 2009
    ..We hope to determine if HDAC2 and INPP5F represent new targets for the development of specific therapies for heart disease. ..
  6. Specification of Dorsal Lbx1-Derived Interneurons
    Martyn Goulding; Fiscal Year: 2007
    ..These studies will provide important insights into the development and organization of neural circuits in the dorsal horn that sense and relay pain. ..
  7. Neurofibromin, Ras & NFAT in Cardiovascular Development
    FRAZ ISMAT; Fiscal Year: 2007
    ..Together this training program will prepare me for independent investigation, lead to a better understanding of cardiovascular abnormalities in neurofibromatosis, and address fundamental issues of cardiovascular development. ..
  8. NEUROFIBROMIN, NEURAL CREST AND CARDIAC DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2007
    ..We will examine the function of Nf1 in adult endothelial cells and in adult and embryonic smooth muscle with the use if inducible tissue-specific Cre mice. ..
  9. 2005 NNFF Consortium for NF1, NF2 and Schwannomatosis
    Jonathan Epstein; Fiscal Year: 2005
    ....
  10. Transcription Factor P53 in Terminal Nephron Different
    Zubaida Saifudeen; Fiscal Year: 2004
    ..The results of this work will provide information on what determines terminal renal differentiation. In addition, these data will advance our understanding of the role the tumor suppressor p53 in kidney development...
  11. Functional Analysis of Spinal Cord Interneurons
    Martyn Goulding; Fiscal Year: 2005
    ..These studies will provide valuable insights into the development and organization of circuits in the spinal cord that control locomotor behavior, and will lay the groundwork for strategies to treat spinal cord injury and degeneration. ..
  12. PAX3 REGULATION OF CARDIAC CONOTRUNCAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2007
    This grant application focuses on the regulation and function of Pax3 in neural crest ceils...
  13. Functional Analysis of Inhibitory Spinal Cord Interneurons
    Martyn Goulding; Fiscal Year: 2007
    ..More importantly, they will lay the groundwork for strategies to treat spinal cord injury and degeneration disorders that affect normal voluntary movements. ..
  14. Mice That Lack CDO: A Model for Mild Holoprosencephaly
    ROBERT KRAUSS; Fiscal Year: 2004
    ....
  15. PAX GENE REGULATION IN EMBRYOGENESIS
    Martyn Goulding; Fiscal Year: 1993
    ..of neural precursors cells, in particular those that give rise to the neural crest will also be examined in splotch mice, with the aim of defining those steps in neural crest development that are regulated by Pax-3...
  16. PAX 3 REGULATION OF CELL MIGRATION AND TRANSCRIPTION
    Martyn Goulding; Fiscal Year: 1999
    ..Mutations in Pax-3 are responsible for the Splotch phenotype in mice and Waardenburg Syndrome in humans...
  17. MOLECULAR ANALYSIS OF MYOTONIC DYSTROPHY
    SATYAKAM BHAGWATI; Fiscal Year: 2002
    ..This approach is designed to explore the function of these CTG/CUG repeat binding proteins and their possible role in the pathogenesis of DM. ..
  18. INVESTIGATING THE ROLE OF CDO IN BRAIN DEVELOPMENT
    Ami Okada; Fiscal Year: 2004
    ..These experiments should also contribute to the overall understanding of the signals that are important in the assembly of the nervous system. ..
  19. NEUROFIBROMIN, NEURAL CREST AND CARDIAC DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2002
    ..3. To inactivate the Nf1 gene selectively in neural crest cells and separately in myocardial cells using tissue specific promoters and a Cre/lox strategy. ..
  20. LBX2 AND UROGENITAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2002
    ....