Pax1

Summary

Gene Symbol: Pax1
Description: paired box 1
Alias: Pax-1, hbs, hunchback, undulated, paired box protein Pax-1, paired box gene 1, wavy tail
Species: mouse

Top Publications

  1. ncbi Murine developmental control genes
    M Kessel
    Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, FRG
    Science 249:374-9. 1990
  2. ncbi Effects of excess vitamin A on development of cranial neural crest-derived structures: a neonatal and embryologic study
    G B Mulder
    University Laboratory Animal Resources, University of California, Irvine, California 92697, USA
    Teratology 62:214-26. 2000
  3. ncbi Pax1/E2a double-mutant mice develop non-lethal neural tube defects that resemble human malformations
    Paulus H L J Joosten
    Department of Cell Biology, Faculty of Science, Radboud University Nijmegen, The Netherlands
    Transgenic Res 14:983-7. 2005
  4. pmc Cooperative activity of noggin and gremlin 1 in axial skeleton development
    David A Stafford
    Department of Molecular and Cell Biology and Center for Integrative Genomics, University of California, Berkeley, CA 94720, USA
    Development 138:1005-14. 2011
  5. ncbi The molecular basis of the undulated/Pax-1 mutation
    G Chalepakis
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, Federal Republic of Germany
    Cell 66:873-84. 1991
  6. ncbi undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1
    R Balling
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Gottingen, Federal Republic of Germany
    Cell 55:531-5. 1988
  7. pmc α5β1 integrin-mediated adhesion to fibronectin is required for axis elongation and somitogenesis in mice
    Amparo Girós
    Departament de Bioquimica i Biologia Molecular, Universitat de Valencia, Burjassot, Spain
    PLoS ONE 6:e22002. 2011
  8. ncbi undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures
    S Dietrich
    Abteilung für Moleculare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Federal Republic of Germany
    Dev Biol 167:529-48. 1995
  9. pmc Compartmentalised expression of Delta-like 1 in epithelial somites is required for the formation of intervertebral joints
    Ingeborg Teppner
    GSF National Research Center for Environment and Health, GmbH, Institute of Experimental Genetics, Neuherberg, Germany
    BMC Dev Biol 7:68. 2007
  10. ncbi A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae
    H Koseki
    Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, Germany
    Development 119:649-60. 1993

Research Grants

  1. GENES CAUSING SPONTANEOUS OBESITY
    Craig Warden; Fiscal Year: 2002
  2. Role of Sonic hedgehog in pharyngeal organ development
    Nancy Manley; Fiscal Year: 2005
  3. Regulation of thymic epithelial cell differentiation
    Nancy Manley; Fiscal Year: 2007
  4. Genetic analysis of thymus organogenesis
    Nancy Manley; Fiscal Year: 2007
  5. Mechanisms of cervical thymus development
    Nancy Manley; Fiscal Year: 2008
  6. RAPID ISOLATION OF DIET-RESPONSIVE OBESITY GENES
    Craig Warden; Fiscal Year: 2009
  7. Positional cloning of obesity genes from congenic mice
    Craig H Warden; Fiscal Year: 2010

Scientific Experts

Detail Information

Publications121 found, 100 shown here

  1. ncbi Murine developmental control genes
    M Kessel
    Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, FRG
    Science 249:374-9. 1990
    ..Models derived from these studies can reveal the successive steps of developmental control on a genetic level...
  2. ncbi Effects of excess vitamin A on development of cranial neural crest-derived structures: a neonatal and embryologic study
    G B Mulder
    University Laboratory Animal Resources, University of California, Irvine, California 92697, USA
    Teratology 62:214-26. 2000
    ..Our prior studies with retinoic acid have established that gestational day (gd) 9 is a sensitive embryonic age in the mouse for inducing craniofacial and thymic defects...
  3. ncbi Pax1/E2a double-mutant mice develop non-lethal neural tube defects that resemble human malformations
    Paulus H L J Joosten
    Department of Cell Biology, Faculty of Science, Radboud University Nijmegen, The Netherlands
    Transgenic Res 14:983-7. 2005
    ..study we have investigated the phenotype of E2a null mutant mice that are also heterozygous for the so-called undulated mutation in Pax1...
  4. pmc Cooperative activity of noggin and gremlin 1 in axial skeleton development
    David A Stafford
    Department of Molecular and Cell Biology and Center for Integrative Genomics, University of California, Berkeley, CA 94720, USA
    Development 138:1005-14. 2011
    ..We confirmed reduction of Pax1 and Pax9 expression in Nog mutants, but found that Nog;Grem1 double mutants completely fail to initiate sclerotome ..
  5. ncbi The molecular basis of the undulated/Pax-1 mutation
    G Chalepakis
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, Federal Republic of Germany
    Cell 66:873-84. 1991
    The murine paired box gene Pax-1 has been associated with the mouse developmental mutant undulated (un), which exhibits malformations in the vertebral column...
  6. ncbi undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1
    R Balling
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Gottingen, Federal Republic of Germany
    Cell 55:531-5. 1988
    b>undulated (un) homozygous mice exhibit vertebral malformations along the entire rostro-caudal axis...
  7. pmc α5β1 integrin-mediated adhesion to fibronectin is required for axis elongation and somitogenesis in mice
    Amparo Girós
    Departament de Bioquimica i Biologia Molecular, Universitat de Valencia, Burjassot, Spain
    PLoS ONE 6:e22002. 2011
    ..Thus, α5β1-mediated adhesion to FN in the PSM regulates the dynamics of membrane protrusions and cell-to-cell communication essential for elongation and segmentation of the body axis...
  8. ncbi undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures
    S Dietrich
    Abteilung für Moleculare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Federal Republic of Germany
    Dev Biol 167:529-48. 1995
    b>undulated extensive mice carry a deletion of at least 28.2 kb, removing the terminal Pax-1 exon including the poly(A) signal. This mutation leads to a drastically reduced amount of Pax-1 transcript...
  9. pmc Compartmentalised expression of Delta-like 1 in epithelial somites is required for the formation of intervertebral joints
    Ingeborg Teppner
    GSF National Research Center for Environment and Health, GmbH, Institute of Experimental Genetics, Neuherberg, Germany
    BMC Dev Biol 7:68. 2007
    ..We did this by overexpressing a functional copy of the Dll1 gene throughout the paraxial mesoderm, in particular in anterior somite compartments, during somitogenesis in transgenic mice...
  10. ncbi A role for Pax-1 as a mediator of notochordal signals during the dorsoventral specification of vertebrae
    H Koseki
    Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, Germany
    Development 119:649-60. 1993
    ..The Sd gene is known to interact with undulated (un), a sclerotome mutant...
  11. pmc Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation
    N Tsumaki
    Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Cell Biol 144:161-73. 1999
    ..These results indicate that CDMP-1 antagonizes the ventralization signals from the notochord. Our study suggests a molecular mechanism by which CDMP-1 regulates the formation, growth, and differentiation of the skeletal elements...
  12. ncbi Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1
    A Neubüser
    GSF Forschungszentrum für Umwelt and Gesundheit, Institut fur Saugetiergenetik, Neuherberg, Oberschleissheim, Federal Republic of Germany
    Dev Biol 170:701-16. 1995
    ..We analyzed the expression of Pax9 during embryogenesis of wildtype, Undulated short-tail (Uns), and Danforth's short tail (Sd) mice...
  13. ncbi The role of Pax-1 in axial skeleton development
    J Wallin
    Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, FRG
    Development 120:1109-21. 1994
    ..single amino-acid substitution in the transcriptional regulator Pax-1 as the cause of the mouse skeletal mutant undulated (un)...
  14. ncbi Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily
    E E Storm
    Department of Developmental Biology, Beckman Center, Stanford University School of Medicine, California 94305 5427
    Nature 368:639-43. 1994
    ..The highly specific skeletal alterations in bp and short ear mice suggest that different members of the BMP family control the formation of different morphological features in the mammalian skeleton...
  15. ncbi Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation
    J Wallin
    Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, Germany
    Development 122:23-30. 1996
    ..Mutations in the Pax-1 gene in undulated mice affect not only the total size of the thymus but also the maturation of thymocytes...
  16. ncbi Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    C Chiang
    Laboratory of Mammalian Genes and Development, National Institute of Health, Bethesda, Maryland 20892, USA
    Nature 383:407-13. 1996
    ..Defects in all tissues extend beyond the normal sites of Shh transcription, confirming the proposed role of Shh proteins as an extracellular signal required for the tissue-organizing properties of several vertebrate patterning centres...
  17. ncbi Requirement of the paraxis gene for somite formation and musculoskeletal patterning
    R Burgess
    Lexicon Genetics Inc, The Woodlands, Texas 77381, USA
    Nature 384:570-3. 1996
    ..These results demonstrate that paraxis regulates somite morphogenesis, and that the function of somites is to pattern the axial skeleton and skeletal muscles...
  18. ncbi Maintenance of somite borders in mice requires the Delta homologue DII1
    M Hrabe de Angelis
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Nature 386:717-21. 1997
    ....
  19. ncbi Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm
    P C Wong
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nature 387:288-92. 1997
    ..Hence, PS1 is required for the spatiotemporal expression of Notch1 and Dll1, which are essential for somite segmentation and maintenance of somite borders...
  20. ncbi Paired-related murine homeobox gene expressed in the developing sclerotome, kidney, and nervous system
    A Mansouri
    Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, Germany
    Dev Dyn 210:53-65. 1997
    ..The temporal and spatial expression pattern suggests that Uncx4.1 may play an important role in kidney development and in the differentiation of the sclerotome and the nervous system...
  21. 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
    ....
  22. pmc Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency
    B Wilm
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany
    Proc Natl Acad Sci U S A 95:8692-7. 1998
    ..Previous studies have shown that three natural Pax1 mouse mutants, the undulated alleles, exhibit phenotypes of different severity in these skeletal elements...
  23. ncbi lunatic fringe is an essential mediator of somite segmentation and patterning
    Y A Evrard
    Department of Biochemistry and Molecular Biology and Program in Genes and Development, University of Texas, M D Anderson Cancer Center, Houston 77030, USA
    Nature 394:377-81. 1998
    ....
  24. pmc Wnt3a-/--like phenotype and limb deficiency in Lef1(-/-)Tcf1(-/-) mice
    J Galceran
    Howard Hughes Medical Institute and Departments of Microbiology and Biochemistry, University of California, San Francisco, California 94143, USA
    Genes Dev 13:709-17. 1999
    ..Together, these data provide evidence for a redundant role of LEF-1 and TCF-1 in Wnt signaling during mouse development...
  25. ncbi Interaction between Notch signalling and Lunatic fringe during somite boundary formation in the mouse
    I B Barrantes
    Amgen Institute, Ontario Cancer Institute, Departments of Medical Biophysics and Immunology University of Toronto 620 University Avenue, Toronto, Ontario, M5G 2C1, Canada
    Curr Biol 9:470-80. 1999
    ....
  26. ncbi Pax1 and Pax9 synergistically regulate vertebral column development
    H Peters
    GSF Research Center for Environment and Health, Institute of Mammalian Genetics, Germany
    Development 126:5399-408. 1999
    The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family...
  27. ncbi Uncx4.1 is required for the formation of the pedicles and proximal ribs and acts upstream of Pax9
    A Mansouri
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D 37077 Gottingen, Germany
    Development 127:2251-8. 2000
    ..The loss of proximal ribs in Pax1/Pax9 double mutants and the data presented here argue for a role of Uncx4...
  28. ncbi Hoxa3 and pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesis
    D Su
    Institute of Molecular Medicine and Genetics, Medical College of Georgia, Augusta, Georgia 30912, USA
    Dev Biol 236:316-29. 2001
    ..this unique process in which two distinct organs form from a single primordium, using mice mutant for Hoxa3 and Pax1. Thymic ectopia in Hoxa3(+/-)Pax1(-/-) compound mutants is due to delayed separation of the thymus/parathyroid ..
  29. ncbi Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node
    X M Zhang
    Department of Molecular and Cellular Biology, The Biolabs, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA
    Cell 106:781-92. 2001
    ..Further, we demonstrate an absolute requirement for Hedgehog signaling in sclerotomal development and a role in cardiac morphogenesis...
  30. ncbi A somitic compartment of tendon progenitors
    Ava E Brent
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Cell 113:235-48. 2003
    ..The tendon progenitors are induced at the sclerotome's edge, at the expense of skeletogenic Pax1 positive cells and in response to FGF signaling in the adjacent myotome...
  31. pmc The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments
    Markus Bussen
    Institut fur Molekularbiologie, Medizinische Hochschule Hannover, 30625 Hannover, Germany
    Genes Dev 18:1209-21. 2004
    ..In summary, Tbx18 appears to act downstream of Mesp2 and Delta/Notch signaling to maintain the separation of anterior and posterior somite compartments...
  32. pmc LEF1-mediated regulation of Delta-like1 links Wnt and Notch signaling in somitogenesis
    Juan Galceran
    Gene Center and Institute of Biochemistry, University of Munich, 81377 Munich, Germany
    Genes Dev 18:2718-23. 2004
    ..Finally, the induced expression of LEF1-beta-catenin activates the expression of endogenous Dll1 in fibroblastic cells. Thus, Wnt signaling can affect the Notch pathway by a LEF1-mediated regulation of Dll1...
  33. ncbi Sonic hedgehog is required for cardiac outflow tract and neural crest cell development
    I Washington Smoak
    North Carolina State University, Raleigh, 27695, USA
    Dev Biol 283:357-72. 2005
    ..Our data suggest that SHH signaling does not act directly on NCCs as a survival factor, but rather acts to restrict the domains that NCCs can populate during early stages (e8.5-10.5) of cardiovascular and craniofacial development...
  34. doi Association between the development of the body axis and the craniofacial skeleton studied by immunohistochemical analyses using collagen II, Pax9, Pax1, and Noggin antibodies
    Liselotte Sonnesen
    Department of Orthodontics, Institute of Odontology, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
    Spine (Phila Pa 1976) 33:1622-6. 2008
    ..Immunohistochemical analyses on the axial skeleton from wild type mice...
  35. pmc Embryonic expression of cyclooxygenase-2 causes malformations in axial skeleton
    Minsub Shim
    Laboratory of Molecular Carcinogenesis, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
    J Biol Chem 285:16206-17. 2010
    ..Our results demonstrate that the aberrant COX-2 signaling during embryonic development is teratogenic and suggest a possible association of COX-2 with fetal malformations of unknown etiology...
  36. pmc Hedgehog signaling is required for formation of the notochord sheath and patterning of nuclei pulposi within the intervertebral discs
    Kyung Suk Choi
    Department of Molecular Genetics and Microbiology and the Genetics Institute, University of Florida, College of Medicine, Gainesville, FL 32610, USA
    Proc Natl Acad Sci U S A 108:9484-9. 2011
    ..As notochord cells form nuclei pulposi, we propose that the notochord sheath functions as a "wrapper" around the notochord to constrain these cells along the vertebral column...
  37. ncbi Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development
    U Deutsch
    Max Planck Institute for Biophysical Chemistry, Gottingen, Federal Republic of Germany
    Cell 53:617-25. 1988
    ..The hybridizing sequences are highly homologous to the conserved Drosophila paired box sequences. A single 3.1 kb Pax 1 (paired box gene) transcript was detected during embryonic development, whereas no transcripts were detected in ..
  38. pmc Meso1, a basic-helix-loop-helix protein involved in mammalian presomitic mesoderm development
    M A Blanar
    Hormone Research Institute, University of California, San Francisco 94143, USA
    Proc Natl Acad Sci U S A 92:5870-4. 1995
    ..Our findings suggest that Meso1 may be a key regulatory gene involved in the early events of vertebrate mesoderm differentiation...
  39. ncbi Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation
    Y Saga
    Banyu Tsukuba Research Institute Merck, Japan
    Genes Dev 11:1827-39. 1997
    ....
  40. ncbi The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries
    K Kusumi
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    Nat Genet 19:274-8. 1998
    ..Viability analysis also indicates an important role in early development. The results point to a key role for a Notch-signalling pathway in the initiation of patterning of vertebrate paraxial mesoderm...
  41. ncbi The paired homeobox gene Uncx4.1 specifies pedicles, transverse processes and proximal ribs of the vertebral column
    M Leitges
    Abt Molekulare Embryologie and Abt Entwicklungsbiologie, Max Planck Institut fur Immunbiologie, Stubeweg 51, Germany
    Development 127:2259-67. 2000
    ..The mesenchymal anlagen for these elements are formed initially, but condensation and chondrogenesis do not occur. Hence, Uncx4.1 is required for the maintenance and differentiation of particular elements of the axial skeleton...
  42. pmc TGF beta 1 inhibits Ca2+-calcineurin-mediated activation in thymocytes
    Ramireddy Bommireddy
    Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Cincinnati, OH 45267 0524, USA
    J Immunol 170:3645-52. 2003
    ..Consequently, TGFbeta1 prevents autoimmune disease through a Ca(2+) regulatory pathway that maintains the activation threshold above that inducible by self-MHC-TCR interactions...
  43. ncbi The murine even-skipped-like gene Evx-2 is closely linked to the Hox-4 complex, but is transcribed in the opposite direction
    H Bastian
    Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, FRG
    Mamm Genome 3:241-3. 1992
  44. ncbi Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2
    E J Hess
    Department of Neuropharmacology, Scripps Research Institute, La Jolla, California 92037
    J Neurosci 12:2865-74. 1992
    ..The localization of the genetic abnormality in coloboma mice using the Snap gene marker will provide a powerful tool for studying the biologic basis of locomotor hyperactivity...
  45. ncbi Additional mapping of mouse chromosome 2 genes
    R J Graff
    Department of Surgery, St Louis University School of Medicine, Mo 63110 0250
    Immunogenetics 33:96-100. 1991
    ..Hd-1 typing indicated that Hd-1 maps distal to [H-42, H-44] and proximal to un. The gene order [pa, B2m, H-3], we, [H-42, H-45], Hd-1, un, H-13, at, with H-44 mapping centromeric to Hd-1, is indicated by the data...
  46. ncbi The hairy ears (Eh) mutation is closely associated with a chromosomal rearrangement in mouse chromosome 15
    M T Davisson
    Jackson Laboratory, Bar Harbor, ME 04609
    Genet Res 56:167-78. 1990
    ..The effect of the inversion extends over a minimum of 30 cM, taking into account the genetic data and the cytologically determined chromosomal involvement extending to the region of the telomere...
  47. ncbi Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice
    U Helwig
    Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Nat Genet 11:60-3. 1995
    ..Here we report that undulated-Patch double-mutant mice have a phenotype reminiscent of an extreme form of spina bifida occulta in humans...
  48. ncbi The genetic origin of minor histocompatibility antigens
    D C Roopenian
    Jackson Laboratory, Bar Harbor, ME 04609
    Immunogenetics 38:131-40. 1993
    ....
  49. ncbi Continued mapping of chromosome 2 genes
    R J Graff
    Department of Surgery, St Louis University School of Medicine, Mo 63110 0250
    Immunogenetics 40:21-6. 1994
    ..The order of the bracketed genes is not known. H-44 maps centromeric to IR-H-Y. The genes encoding the antigens that stimulate lymphocyte clones 2G7, 2C10, 1F6, 1B10, and 1H10 map centromeric to H-45...
  50. ncbi Pax: gene regulators in the developing nervous system
    G Chalepakis
    Max Planck Institut fur biophysikalische Chemie, Abteilung Molekulare Zellbiologie, Gottingen, Germany
    J Neurobiol 24:1367-84. 1993
    ..Pax-6 mutations result in Small eye mice and the human genetic disorder aniridia. The Pax-1 gene is mutated in undulated mice. Pax proteins can transform cells in culture which then form tumours following injection in nude mice...
  51. ncbi Severe defects in the formation of epaxial musculature in open brain (opb) mutant mouse embryos
    R Spörle
    GSF Forschungszentrum für Umwelt und Gesundheit, Institut fur Saugetiergenetik, Neuherberg, Oberschleissheim, Germany
    Development 122:79-86. 1996
    ..Analysis of Mox1 and Pax1 expression in opb embryos revealed additional defects in the differentiation of the dorsal sclerotome...
  52. ncbi Transcriptional activation of the GLUT2 gene by the IPF-1/STF-1/IDX-1 homeobox factor
    G Waeber
    Department of Internal Medicine B, University Hospital, Lausanne, Switzerland
    Mol Endocrinol 10:1327-34. 1996
    ..These data demonstrate that the murine GLUT2 promoter is controlled by the PDX-1 homeobox factor through the identified GLUT2TAAT motif...
  53. ncbi The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites
    P Soriano
    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Development 124:2691-700. 1997
    ..These results indicate that PDGFs may exert their functions during early embryogenesis by affecting cell survival and patterning...
  54. ncbi Pax genes and organogenesis
    E Dahl
    GSF National Research Center for Environment and Health, Institute for Mammalian Genetics, Neuherberg, Germany
    Bioessays 19:755-65. 1997
    ..PAX3), Aniridia (PAX6), Peter's anomaly (PAX6), renal coloboma syndrome (PAX2) or spontaneous mouse mutants (undulated (Pax1), Splotch (Pax3), Small eye (Pax6), Pax2(1)Neu), which all show defects in development...
  55. ncbi Mutation in ankyrin repeats of the mouse Notch2 gene induces early embryonic lethality
    Y Hamada
    National Institute for Basic Biology, Okazaki, Aichi 444 8585, Japan
    Development 126:3415-24. 1999
    ..The results indicate that Notch2 plays an essential role in postimplantation development in mice, probably in some aspect of cell specification and/or differentiation, and that the ankyrin repeats are indispensable for its function...
  56. ncbi Nkx3.1, a murine homolog of Ddrosophila bagpipe, regulates epithelial ductal branching and proliferation of the prostate and palatine glands
    M Tanaka
    Cardiovascular Division, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA
    Dev Dyn 219:248-60. 2000
    ..However, we did not observe prostate cancer in homozygous mutant mice up to 2 years of age. Therefore, involvement of NKX3.1 in carcinogenesis in men needs to be carefully determined by further investigation...
  57. ncbi Synergy between Hoxa1 and Hoxb1: the relationship between arch patterning and the generation of cranial neural crest
    A Gavalas
    Division of Developmental Neurobiology, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Development 128:3017-27. 2001
    ..Furthermore, they demonstrate that early patterning of the separate components of the pharyngeal arches can proceed independently of neural crest cell migration...
  58. ncbi Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched
    Yong Ma
    Howard Hughes Medical Institute, Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Cell 111:63-75. 2002
    ..This activity is disrupted by alteration of residues functionally conserved in Patched and in a related family of bacterial transmembrane transporters, thus suggesting similar mechanisms of action for all of these proteins...
  59. ncbi Aortic arch and pharyngeal phenotype in the absence of BMP-dependent neural crest in the mouse
    Sabine Ohnemus
    Department of Developmental Biology, Max Planck Institute of Immunobiology, Freiburg, Germany
    Mech Dev 119:127-35. 2002
    ....
  60. ncbi Linkage in the mouse: the sex-linked genes and Rough
    D S Falconer
    Z Indukt Abstamm Vererbungsl 86:263-8. 1954
  61. ncbi Positive regulation of myogenic bHLH factors and skeletal muscle development by the cell surface receptor CDO
    Francesca Cole
    Brookdale Department of Molecular, Cell, and Developmental Biology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Dev Cell 7:843-54. 2004
    ..The promyogenic effect of cell-cell contact is therefore linked to the activity of myogenic bHLH factors. Furthermore, the myogenic positive feedback network extends from the cell surface to the nucleus...
  62. ncbi Molecular signaling in intervertebral disk development
    Christian P DiPaola
    Department of Orthopaedics, Cornell University Medical College, University of Rochester Medical Center, Rochester, NY 14642, USA
    J Orthop Res 23:1112-9. 2005
    ..The expression pattern of the BMP inhibitor Noggin appears to be important for the normal formation of the IVD and may prove to play a role in its segmental pattern formation...
  63. ncbi Fibroblast growth factor signalling and regional specification of the pharyngeal ectoderm
    Nina Trokovic
    Institute of Biotechnology, Viikki Biocenter, University of Helsinki, Finland
    Int J Dev Biol 49:797-805. 2005
    ..Our results suggest that Fgfr1 is important for localized signalling in the pharyngeal ectoderm and consequently for normal tissue interactions in the developing second branchial arch...
  64. ncbi SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis
    Karine Rizzoti
    Division of Developmental Genetics, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Development 134:3437-48. 2007
    ..They also give insight into the formation of pharyngeal pouches, of which little is known in vertebrates. Finally, this work introduces two new players in craniofacial development - SOX3 and SOX2...
  65. pmc Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies
    Alyson Ashe
    Epigenetics Laboratory, Queensland Institute for Medical Research, Herston, Queensland 4006, Australia
    Hum Mol Genet 21:1808-23. 2012
    ..This allelic series of mouse mutants provides a unique opportunity to uncover the underlying mechanistic basis of this intriguing subset of ciliopathies...
  66. pmc Developmental genetic bases behind the independent origin of the tympanic membrane in mammals and diapsids
    Taro Kitazawa
    1 Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, 7 3 1, Hongo, Bunkyo ku, Tokyo 113 0033, Japan 2 Core Research for Evolutional Science and Technology CREST, Japan Science and Technology Agency JST, Chiyoda ku, Tokyo 102 0076, Japan
    Nat Commun 6:6853. 2015
    ..We propose that differences in connection and release by various pharyngeal skeletal elements resulted in structural diversity, leading to the acquisition of the tympanic membrane in two distinct manners during amniote evolution. ..
  67. 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
    ..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 syndrome and aniridia...
  68. pmc Interspecific backcross mice show sex-specific differences in allelic inheritance
    L D Siracusa
    Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Maryland 21702
    Genetics 128:813-21. 1991
    ..These studies provide evidence for sex-specific differences in allelic inheritance for chromosome 2 and suggest biological explanations for this form of transmission distortion...
  69. ncbi Mapping the mouse craniofacial mutation first arch (Far) to chromosome 2
    D M Juriloff
    Department of Medical Genetics, University of British Columbia, Vancouver, B C Canada
    J Hered 82:402-5. 1991
    ..It may therefore be significant that, in mapping near Ulnaless, Far also maps in the vicinity of the Hox-4 gene cluster...
  70. ncbi Molecular regulation of neural crest development
    M Murphy
    Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Parkville, Victoria, Australia
    Mol Neurobiol 7:111-35. 1993
    ..Evidence is provided, mainly from in vitro experiments, that purified growth factors selectively promote the differentiation of neural crest cells down either sympathetic, adrenal, sensory, or melanocytic cell lineages...
  71. ncbi High-resolution mapping of a minor histocompatibility antigen gene on mouse chromosome 2
    A R Zuberi
    Jackson Laboratory, Bar Harbor, Maine 04609
    Mamm Genome 4:516-22. 1993
    ..26 +/- 0.15-un (% recombination +/- 1 SE). Because the average resolution of the backcross is 0.09 cM, the backcross panel should facilitate the physical mapping and molecular identification of a number of genes in this chromosome region...
  72. ncbi Altered Pax gene expression in murine notochord mutants: the notochord is required to initiate and maintain ventral identity in the somite
    S Dietrich
    Abteilung für Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Germany
    Mech Dev 44:189-207. 1993
    ....
  73. pmc Delimiting the location of the scrapie prion incubation time gene on chromosome 2 of the mouse
    G A Carlson
    McLaughlin Research Institute, Great Falls, Montana 59401
    Genetics 133:979-88. 1993
    ..Thus, Prn-pb transgenes and Prn-i may modulate scrapie pathogenesis by different mechanisms...
  74. ncbi Assignment of the paired box gene Pax1 to rat chromosome 3
    M Otsen
    Department of Laboratory Animal Science, Faculty of Veterinary Medicine, Utrecht University, The Netherlands
    Mamm Genome 6:666-7. 1995
  75. ncbi Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects
    N D Greene
    Neural Development Unit, Institute of Child Health, University College, 30 Guilford Street, London, WC1N 1EH, UK
    Mech Dev 73:59-72. 1998
    ..The paraxial mesoderm shows evidence of ventralisation, with increased expression of the sclerotomal marker Pax1, and diminished expression of the dermomyotomal marker Pax3...
  76. ncbi Paradox segmentation along inter- and intrasomitic borderlines is followed by dysmorphology of the axial skeleton in the open brain (opb) mouse mutant
    R Spörle
    Institute of Mammalian Genetics ISG, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Dev Genet 22:359-73. 1998
    ..These prominent skeletal defects were preceded by reduced expression of Pax1 along the intrasomitic borderlines, and incomplete maintenance of somite borders between central sclerotome ..
  77. ncbi [Non-Mendelian inheritance of the Un(s) mutant gene in mice]
    N Iu Sakharova
    Institute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, Moscow Oblast, Russia
    Genetika 34:816-24. 1998
    ..The segregation found seems to result either from different fertilizing ability of normal sperm and sperm carrying the Uns mutation or, which is more probable, from the genetic imprinting of the gene Uns...
  78. pmc MLL, a mammalian trithorax-group gene, functions as a transcriptional maintenance factor in morphogenesis
    B D Yu
    Howard Hughes Medical Institute, Division of Molecular Oncology, Departments of Medicine and Pathology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 95:10632-6. 1998
    ..Thus, Mll represents an essential mechanism of transcriptional maintenance in mammalian development, which functions in multiple morphogenetic processes...
  79. ncbi Genetic rescue of segmentation defect in MesP2-deficient mice by MesP1 gene replacement
    Y Saga
    Banyu Tsukuba Research Institute Merck, Tsukuba, 300 26, Japan
    Mech Dev 75:53-66. 1998
    ..Thus, it is concluded that the functions of MesP1 during somitogenesis, like MesP2, are also mediated via notch-delta and FGF signaling systems...
  80. 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...
  81. ncbi Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column development
    T A Furumoto
    Graduate School of Medicine, Chiba University, 1 8 1 Inohana, Chuo Ku, Chiba, 260 8670, Japan
    Dev Biol 210:15-29. 1999
    ..The products of the paired-box-containing Pax1 and the mesenchyme forkhead-1 (Mfh1) genes are expressed in the developing sclerotome and are essential for the ..
  82. ncbi The role of the notochord for epaxial myotome formation in the mouse
    S Dietrich
    King s College London, Department of Craniofacial Development, UK
    Cell Mol Biol (Noisy-le-grand) 45:601-16. 1999
    ..We therefore hypothesise that in mammals, as in birds, the formation of the epaxial musculature depends on the presence of notochord derived signals...
  83. ncbi The murine Bapx1 homeobox gene plays a critical role in embryonic development of the axial skeleton and spleen
    C Tribioli
    Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029 6574, USA
    Development 126:5699-711. 1999
    ..Loss of Bapx1 is accompanied by an increase in apoptotic cell death in affected tissues, although cell cycling rates are unaltered...
  84. ncbi Characterization of a novel insertional mouse mutation, kkt: A closely linked modifier of Pax1
    P Bialek
    Department of Biochemistry, University of Western Ontario, London, Canada
    Dev Biol 218:354-66. 2000
    ..The skeletal abnormalities are similar to those observed in the mouse mutant undulated (un)...
  85. ncbi Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation
    H Akazawa
    Department of Cell Biology, The Cancer Institute, Japanese Foundation for Cancer Research, 1 37 1 Kami Ikebukuro, Toshima ku, Tokyo 170 8455, Japan
    Genes Cells 5:499-513. 2000
    ....
  86. ncbi Evolutionary conservation of gene structures of the Pax1/9 gene family
    C Hetzer-Egger
    Department of Developmental Immunology, Max Planck Institute for Immunobiology, Stuebeweg 51, D 79108, Freiburg, Germany
    Biochim Biophys Acta 1492:517-21. 2000
    Based on amino acid sequence comparisons, Pax1 and Pax9 genes are considered to form a subgroup of vertebrate Pax genes...
  87. ncbi DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
    L A Jerome
    Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York, New York, USA
    Nat Genet 27:286-91. 2001
    ..On the basis of this phenotype in mice, we propose that TBX1 in humans is a key gene in the etiology of DGS/VCFS...
  88. ncbi Agenesis of the scapula in Emx2 homozygous mutants
    M Pellegrini
    Dipartimento di Scienze Morfologiche e Medico Legali, Universita di Modena e Reggio Emilia, Modena, 41100, Italy
    Dev Biol 232:149-56. 2001
    ..The knock-out of Pax1 has shown that this gene is involved in patterning the acromion, while the expression pattern candidates Hoxc6 as a ..
  89. ncbi Epaxial-adaxial-hypaxial regionalisation of the vertebrate somite: evidence for a somitic organiser and a mirror-image duplication
    R Spörle
    Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Ingolstadter Landstrasse 1, 85764 Neuherberg, Germany
    Dev Genes Evol 211:198-217. 2001
    ....
  90. 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
    ..This finding suggests an early function of Pax3 during the formation of epithelial somites...
  91. ncbi Cooperation of Hoxa5 and Pax1 genes during formation of the pectoral girdle
    Josée Aubin
    Centre de recherche en cancérologie de l Université Laval, Centre Hospitalier Universitaire de Quebec, L Hôtel Dieu de Québec, Quebec, G1R 2J6, Canada
    Dev Biol 244:96-113. 2002
    ..Some skeletal malformations encountered in Hoxa5 mutants are shared by the undulated (un) mice, which bear a point mutation in the Pax1 gene...
  92. ncbi FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissues
    Oleg V Bulgakov
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Development 131:2149-59. 2004
    ..Although it is expressed broadly, FKBP8 is required to antagonize SHH signaling primarily in neural tissues, suggesting that hedgehog signal transduction is subject to cell-type specific modulation during mammalian development...
  93. ncbi BMP signaling in the epiblast is required for proper recruitment of the prospective paraxial mesoderm and development of the somites
    Shigeto Miura
    Laboratory of Reproductive and Developmental Toxicology, National Institute of Environmental Health Sciences, MD C4 10, C458, Research Triangle Park, NC 27709, USA
    Development 133:3767-75. 2006
    ..This suggests that BMP and FGF signaling function antagonistically during paraxial mesoderm development...
  94. doi Lasp1 misexpression influences chondrocyte differentiation in the vertebral column
    Natascha Hermann-Kleiter
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University, Innsbruck, Austria
    Int J Dev Biol 53:983-91. 2009
    The mouse mutant wavy tail Tg(Col1a1-lacZ)304ng was created through transgene insertion and exhibits defects of the vertebral column...
  95. pmc Differential axial requirements for lunatic fringe and Hes7 transcription during mouse somitogenesis
    Michael Stauber
    Developmental Genetics Laboratory, Cancer Research UK, London Research Institute, London, United Kingdom
    PLoS ONE 4:e7996. 2009
    ..We present evidence that Lfng controls dorsal-ventral axis specification in the tail, and also suggest that Lfng controls the expression or activity of a long-range signal that regulates axial extension...
  96. pmc Lack of motor neuron differentiation is an intrinsic property of the mouse secondary neural tube
    Alisa S W Shum
    School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong
    Dev Dyn 239:3192-203. 2010
    ..Taken together, these results support that the lack of motor neuron differentiation is an intrinsic property of the mouse secondary neural tube...
  97. doi Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice
    Tadashi Okubo
    Okazaki Institute for Integrative Bioscience, National Institutes of Natural Sciences, Okazaki, Aichi 444 8787, Japan
    Development 138:339-48. 2011
    ..Together, our results show that Ripply3 plays a role in pharyngeal development, probably by regulating Tbx1 activity...
  98. pmc Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatment
    Muriel Rhinn
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch F 67404, France
    Proc Natl Acad Sci U S A 108:16687-92. 2011
    ..These results underscore the importance of maternal retinoids in preventing congenital birth defects, and lead to a revised model of the importance of RDH10 and RALDHs in controlling embryonic RA distribution...
  99. ncbi Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis
    B Adams
    Institute of Molecular Pathology, Vienna, Austria
    Genes Dev 6:1589-607. 1992
    ..All of this evidence indicates that the transcription factor BSAP may not only play an important role in B-cell differentiation but also in neural development and spermatogenesis...
  100. ncbi Murine chromosomal location of four hepatocyte-enriched transcription factors: HNF-3 alpha, HNF-3 beta, HNF-3 gamma, and HNF-4
    K B Avraham
    Mammalian Genetics Laboratory, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702
    Genomics 13:264-8. 1992
    ....

Research Grants7

  1. GENES CAUSING SPONTANEOUS OBESITY
    Craig Warden; Fiscal Year: 2002
    ..They have already found that spretus and B6 UCP2 differ for 2 amino acids, so uncoupling activity of UCP2 from these strains will be examined. ..
  2. Role of Sonic hedgehog in pharyngeal organ development
    Nancy Manley; Fiscal Year: 2005
    ..These tools will also allow us to expand our investigation to other signaling pathways, such as BMPs and FGFs, that are known to interact with the Shh pathway in other organs. ..
  3. Regulation of thymic epithelial cell differentiation
    Nancy Manley; Fiscal Year: 2007
    ..Further, our identification of a new function for the N-terminal domain may have implications for functional domains in other forkhead family transcription factors. ..
  4. Genetic analysis of thymus organogenesis
    Nancy Manley; Fiscal Year: 2007
    ..in my laboratory has shown that Hoxa3 is required for thymus and parathyroid development, and that the Hoxa3 and Pax1 transcription factors have synergistic effects on the early stages of thymus/ parathyroid development...
  5. Mechanisms of cervical thymus development
    Nancy Manley; Fiscal Year: 2008
    ..If it is the latter, this raises the intriguing possibility that latent thymic potential may exist in everyone, and thus may represent a novel therapeutic target for thymic regeneration and rebound. [unreadable] [unreadable] [unreadable]..
  6. RAPID ISOLATION OF DIET-RESPONSIVE OBESITY GENES
    Craig Warden; Fiscal Year: 2009
    ..We believe that this study offers the opportunity to identify a gene causing maternal effects on obesity, as well as three other obesity genes, by using well characterized congenic mouse strains. ..
  7. Positional cloning of obesity genes from congenic mice
    Craig H Warden; Fiscal Year: 2010
    ..The long term outcome is that we will identify at least one novel and strong and plausible obesity gene. ..