Pax2

Summary

Gene Symbol: Pax2
Description: paired box 2
Alias: Opdc, Pax-2, paired box protein Pax-2, optic disc coloboma, paired box gene 2
Species: mouse

Top Publications

  1. ncbi Pax2 and pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney
    Melina Narlis
    McGill Cancer Centre and Biochemistry Department, McGill University, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada
    J Am Soc Nephrol 18:1121-9. 2007
  2. ncbi Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6
    M Schwarz
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Am Fassberg 11, D 37077 Gottingen, Germany
    Development 127:4325-34. 2000
  3. pmc Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system
    M Hallonet
    Department of Developmental Biochemistry, University of Gottingen, Institute for Biochemistry, 37073 Gottingen, Germany
    Genes Dev 13:3106-14. 1999
  4. pmc Ecotopic viral integration site 1 (EVI1) regulates multiple cellular processes important for cancer and is a synergistic partner for FOS protein in invasive tumors
    Emilie A Bard-Chapeau
    Institute of Molecular and Cell Biology, Singapore 138673
    Proc Natl Acad Sci U S A 109:2168-73. 2012
  5. ncbi BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning
    G Luo
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Genes Dev 9:2808-20. 1995
  6. ncbi dILA neurons in the dorsal spinal cord are the product of terminal and non-terminal asymmetric progenitor cell divisions, and require Mash1 for their development
    Hendrik Wildner
    Max Delbrück Centrum for Molecular Medicine, Berlin Buch, Germany
    Development 133:2105-13. 2006
  7. pmc Vax genes ventralize the embryonic eye
    Stina H Mui
    Molecular Neurobiology Laboratory, The Salk Institute La Jolla, California 92037, USA
    Genes Dev 19:1249-59. 2005
  8. pmc Wnt signaling plays an essential role in neuronal specification of the dorsal spinal cord
    Yuko Muroyama
    Kondoh Differentiation Signaling Project, Exploratory Research for Advanced Technology ERATO, Japan Science and Technology Corporation JST, Kinki Invention Center, Sakyo ku, Kyoto 606 8305, Japan
    Genes Dev 16:548-53. 2002
  9. 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
  10. ncbi Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression
    S Huh
    Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, 10021, USA
    Dev Biol 211:53-63. 1999

Research Grants

  1. IR-INDUCED APOPTOSIS IN THE DEVELOPING NERVOUS SYSTEM
    PETER MCKINNON; Fiscal Year: 2004
  2. ATM and DNA Damage in the Nervous System
    PETER MCKINNON; Fiscal Year: 2007
  3. Transcription Factor P53 in Terminal Nephron Different
    Zubaida Saifudeen; Fiscal Year: 2004
  4. Functional Analysis of Spinal Cord Interneurons
    Martyn Goulding; Fiscal Year: 2005
  5. Specification of Dorsal Lbx1-Derived Interneurons
    Martyn Goulding; Fiscal Year: 2007
  6. The function of Foxi3 in craniofacial development
    Takahiro Ohyama; Fiscal Year: 2008
  7. Investigating the Role of Tbx1 in Ear Development
    Evan Braunstein; Fiscal Year: 2008

Detail Information

Publications163 found, 100 shown here

  1. ncbi Pax2 and pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney
    Melina Narlis
    McGill Cancer Centre and Biochemistry Department, McGill University, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada
    J Am Soc Nephrol 18:1121-9. 2007
    Pax genes are important regulators of kidney development. In the mouse, homozygous Pax2 inactivation results in renal agenesis, a phenotype that has largely precluded the analysis of Pax gene function during metanephric kidney development...
  2. ncbi Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6
    M Schwarz
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Am Fassberg 11, D 37077 Gottingen, Germany
    Development 127:4325-34. 2000
    We have studied the molecular basis of the Pax2 and Pax6 function in the establishment of visual system territories...
  3. pmc Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system
    M Hallonet
    Department of Developmental Biochemistry, University of Gottingen, Institute for Biochemistry, 37073 Gottingen, Germany
    Genes Dev 13:3106-14. 1999
    ..Similarly, Shh injection expands the Vax1 and Pax2 territory at the expense of the Pax6 and Rx region...
  4. pmc Ecotopic viral integration site 1 (EVI1) regulates multiple cellular processes important for cancer and is a synergistic partner for FOS protein in invasive tumors
    Emilie A Bard-Chapeau
    Institute of Molecular and Cell Biology, Singapore 138673
    Proc Natl Acad Sci U S A 109:2168-73. 2012
    ..Collectively, our data indicate that EVI1 is a multipurpose transcription factor that synergizes with FOS in invasive tumors...
  5. ncbi BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning
    G Luo
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston 77030, USA
    Genes Dev 9:2808-20. 1995
    ..In addition, BMP-7-deficient mice have eye defects that appear to originate during lens induction. Finally, BMP-7-deficient mice also have skeletal patterning defects restricted to the rib cage, the skull, and the hindlimbs...
  6. ncbi dILA neurons in the dorsal spinal cord are the product of terminal and non-terminal asymmetric progenitor cell divisions, and require Mash1 for their development
    Hendrik Wildner
    Max Delbrück Centrum for Molecular Medicine, Berlin Buch, Germany
    Development 133:2105-13. 2006
    ..Our data allow us to assign to Mash1 a function in asymmetric cell divisions, and indicate that the factor coordinates cell cycle exit and specification in the one daughter that gives rise to a dILA neuron...
  7. pmc Vax genes ventralize the embryonic eye
    Stina H Mui
    Molecular Neurobiology Laboratory, The Salk Institute La Jolla, California 92037, USA
    Genes Dev 19:1249-59. 2005
    ....
  8. pmc Wnt signaling plays an essential role in neuronal specification of the dorsal spinal cord
    Yuko Muroyama
    Kondoh Differentiation Signaling Project, Exploratory Research for Advanced Technology ERATO, Japan Science and Technology Corporation JST, Kinki Invention Center, Sakyo ku, Kyoto 606 8305, Japan
    Genes Dev 16:548-53. 2002
    ..Thus, Wnt signaling plays a critical role in the specification of cell types for dorsal interneurons...
  9. 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
    ....
  10. ncbi Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression
    S Huh
    Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, New York, 10021, USA
    Dev Biol 211:53-63. 1999
    ..This localized deficit in shh expression may also contribute to the prominence of the ventral defects in the telencephalon of the BF-1(-/-) mutant...
  11. ncbi Otx genes are required for tissue specification in the developing eye
    J R Martinez-Morales
    Instituto Cajal, CSIC, Dr Arce 37, Madrid 28002, Spain
    Development 128:2019-30. 2001
    ..of the prospective neural retina and optic stalk territories, as determined by the expression of Pax6, Six3 and Pax2. Later in development the presumptive pigment epithelium region acquired features of mature neural retina, ..
  12. pmc Maturation of ureter-bladder connection in mice is controlled by LAR family receptor protein tyrosine phosphatases
    Noriko Uetani
    Goodman Cancer Centre, Department of Biochemistry, McGill University, Montreal, Quebec, Canada
    J Clin Invest 119:924-35. 2009
    ..Together, these results suggest that ureter positioning is controlled by the opposing actions of Ret and LAR family phosphatases regulating apoptosis-mediated tissue morphogenesis...
  13. pmc Midline signaling regulates kidney positioning but not nephrogenesis through Shh
    Piyush Tripathi
    Internal Medicine, Renal Division, Washington University School of Medicine, St Louis, MO 63110, USA
    Dev Biol 340:518-27. 2010
    ..These studies also provide insights into the pathogenesis of horseshoe kidneys and how congenital kidney defects can be caused by signals outside the renal primordia...
  14. ncbi Differential expression and function of cadherin-6 during renal epithelium development
    E A Cho
    Department of Pathology, University of Michigan, Ann Arbor, MI 48109 0650, USA
    Development 125:803-12. 1998
    ..These data suggest that cadherin-6 function is required for the early aggregation of induced mesenchymal cells and their subsequent conversion to epithelium...
  15. ncbi Novel ENU-induced eye mutations in the mouse: models for human eye disease
    Caroline Thaung
    Comparative and Developmental Genetics Section, MRC Human Genetics Unit, Edinburgh EH4 2XU, UK
    Hum Mol Genet 11:755-67. 2002
    ..This collection of eye mutations will be valuable for understanding gene function, for dissecting protein function and as models of human eye disease...
  16. ncbi Regulation of c-Ret in the developing kidney is responsive to Pax2 gene dosage
    Jason C Clarke
    Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA, and Kolling Institute, Royal North Shore Hospital, St Leonards, Sydney, New South Wales, Australia
    Hum Mol Genet 15:3420-8. 2006
    During kidney development, Pax2 and Pax8 are expressed very early in the mammalian nephric duct and both precede the expression of receptor tyrosine kinase, c-Ret...
  17. ncbi Expression patterns of developmental control genes in normal and Engrailed-1 mutant mouse spinal cord reveal early diversity in developing interneurons
    M P Matise
    New York University Medical School, Skirball Institute of Biomolecular Medicine, Developmental Genetics Program, New York, New York 10016, USA
    J Neurosci 17:7805-16. 1997
    ..Rather, it is suggested that En-1 may function to distinguish a subset of interneurons during the later maturation of the spinal cord...
  18. ncbi Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system
    Thomas J Carroll
    Department of Molecular and Cellular Biology, Harvard University, 16 Divinity Avenue, Cambridge, MA 02138, USA
    Dev Cell 9:283-92. 2005
    ..Together these findings suggest that Wnt9b is a common organizing signal regulating diverse components of the mammalian urogenital system...
  19. ncbi Odd-skipped related 1 is required for development of the metanephric kidney and regulates formation and differentiation of kidney precursor cells
    Richard G James
    Molecular and Vascular Medicine Unit, Beth Israel Deaconess Medical Center, 330 Brookline Ave, RW 663, Boston, MA 02215, USA
    Development 133:2995-3004. 2006
    ..and do not express several other factors required for metanephric kidney formation, including Eya1, Six2, Pax2, Sall1 and Gdnf...
  20. doi Mouse Shh is required for prechordal plate maintenance during brain and craniofacial morphogenesis
    Kazushi Aoto
    Molecular Neuropathology Group, Brain Science Institute, RIKEN, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
    Dev Biol 327:106-20. 2009
    ..These findings provide new insight into the mechanism underlying HPE pathoetiology during dynamic brain and craniofacial morphogenesis...
  21. ncbi Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma
    Anna Maria Barbieri
    Telethon Institute of Genetics and Medicine TIGEM, Via Pietro Castellino 111, Naples, Italy
    Development 129:805-13. 2002
    ..Vax2 inactivation determines dorsalisation of the expression of mid-late (Ephb2 and Efnb2) but not early (Pax2 and Tbx5) markers of dorsal-ventral polarity in the developing retina...
  22. ncbi Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
    P X Xu
    Division of Genetics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 23:113-7. 1999
    ..In addition, our results suggest that an evolutionarily conserved Pax-Eya-Six regulatory hierarchy is used in mammalian ear and kidney development...
  23. pmc Lmx1a maintains proper neurogenic, sensory, and non-sensory domains in the mammalian inner ear
    Soo Kyung Koo
    National Institute on Deafness and Other Communication Disorders, 5 Research Court, Rm 2B34, Rockville, Rockville, MD 20850, USA
    Dev Biol 333:14-25. 2009
    ..Furthermore, aberrant and ectopic sensory organs are observed; most striking among these is vestibular-like hair cells located in the cochlear duct...
  24. ncbi Lim 1 is required for nephric duct extension and ureteric bud morphogenesis
    Anissa Pedersen
    Department of Genetics, Cell Biology and Development and University of Minnesota Developmental Biology Center, University of Minnesota, 6 160 Jackson Hall, 321 Church St SE, Minneapolis, MN 55455, USA
    Dev Biol 288:571-81. 2005
    ..Lim 1 in the nephric epithelium just after the nephric duct begins to form using a floxed allele of Lim 1 and Pax2-cre transgenic mice. We report that Lim 1 conditional knockout mice have renal hypoplasia and hydronephrosis...
  25. ncbi Regionalized expression of Nkx5-1, Nkx5-2, Pax2 and sek genes during mouse inner ear development
    S Rinkwitz-Brandt
    Department of Molecular and Cellular Biology, Technical University Braunschweig, Germany
    Hear Res 99:129-38. 1996
    ..The endolymphatic duct is devoid of any Nkx5 transcripts. Pax2 is expressed in epithelial cells of the ventral part of the membranous labyrinth where it overlaps with the Nkx5 ..
  26. pmc Eya 1 acts as a critical regulator for specifying the metanephric mesenchyme
    Gangadharan Sajithlal
    McLaughlin Research Institute for Biomedical Sciences, Great Falls, MT 59405, USA
    Dev Biol 284:323-36. 2005
    ..Using Eya 1, Gdnf, Six 1 and Pax 2 mutant mice, we show that Eya 1 probably functions at the top of the genetic hierarchy controlling kidney ..
  27. pmc Six2 is required for suppression of nephrogenesis and progenitor renewal in the developing kidney
    Michelle Self
    Department of Genetics and Tumor Cell Biology, St Jude Children s Research Hospital, Memphis, TN 38105 2794, USA
    EMBO J 25:5214-28. 2006
    ..We propose that in the developing kidney, Six2 activity is required for maintaining the mesenchymal progenitor population in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud...
  28. ncbi Selective expression of Bhlhb5 in subsets of early-born interneurons and late-born association neurons in the spinal cord
    Ben Liu
    The National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Dev Dyn 236:829-35. 2007
    ..At late stages of development, Bhlhb5 expression is detected in a subset of late-born dorsal association interneurons that migrate into the uppermost layer of the dorsal horn...
  29. ncbi Phactr4 regulates neural tube and optic fissure closure by controlling PP1-, Rb-, and E2F1-regulated cell-cycle progression
    Tae Hee Kim
    Cell Biology and Genetics Program, Weill Graduate School of Medical Sciences of Cornell University, New York, NY 10021, USA
    Dev Cell 13:87-102. 2007
    ..Thus, Phactr4 is critical for the spatially and temporally regulated transition in proliferation through differential regulation of PP1 and the cell cycle during neurulation and eye development...
  30. pmc Tight regulation of p53 activity by Mdm2 is required for ureteric bud growth and branching
    Sylvia Hilliard
    Tulane University School of Medicine, Department of Pediatrics, Section of Pediatric Nephrology, Orleans, LA 70112, USA
    Dev Biol 353:354-66. 2011
    ..These results demonstrate a critical and cell autonomous role for Mdm2 in the UB lineage. Mdm2-mediated inhibition of p53 activity is a prerequisite for renal organogenesis...
  31. pmc Renal collecting system growth and function depend upon embryonic γ1 laminin expression
    Dong Hua Yang
    Department of Pathology and Laboratory Medicine, Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA
    Development 138:4535-44. 2011
    ....
  32. pmc Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human
    Ramakrishna P Alur
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
    PLoS Genet 6:e1000870. 2010
    ..Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutations in PAX2 are predicted to result in complete loss of one allele's function, three missense ..
  33. ncbi Essential role of stromal mesenchyme in kidney morphogenesis revealed by targeted disruption of Winged Helix transcription factor BF-2
    V Hatini
    Cell Biology Program and Division of Endocrinology, Cornell University Graduate School of Medical Sciences, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Genes Dev 10:1467-78. 1996
    ....
  34. ncbi Pax2 contributes to inner ear patterning and optic nerve trajectory
    M Torres
    Abteilung Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Germany
    Development 122:3381-91. 1996
    During gestation, the paired box-containing gene Pax2 is expressed in the mid-hindbrain area, developing eye and inner ear...
  35. ncbi Hmx2 homeobox gene control of murine vestibular morphogenesis
    W Wang
    Brookdale Center for Developmental and Molecular Biology, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029 6574, USA
    Development 128:5017-29. 2001
    ..The developmental regulators Bmp4, Dlx5 and Pax2 all play a critical role in inner ear ontogeny, and the expression of each of these genes is affected in the Hmx2 ..
  36. ncbi Pbx1 regulates nephrogenesis and ureteric branching in the developing kidney
    Catherine A Schnabel
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305 5342, USA
    Dev Biol 254:262-76. 2003
    ..Taken together, these data establish a role for Pbx1 in mesenchymal-epithelial signaling and demonstrate that Pbx1 is an essential regulator of mesenchymal function during renal morphogenesis...
  37. ncbi SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site
    Uta Grieshammer
    Department of Anatomy and Program in Developmental Biology, School of Medicine, University of California, San Francisco, San Francisco, CA 94158, USA
    Dev Cell 6:709-17. 2004
    ..Thus our data identify an intercellular signaling system that restricts, directly or indirectly, the extent of the Gdnf expression domain, thereby precisely positioning the site of kidney induction...
  38. ncbi The role of Pax2 in mouse inner ear development
    Quianna Burton
    National Institute on Deafness and Other Communication Disorders, Bethesda, MD 20892, USA
    Dev Biol 272:161-75. 2004
    The paired box transcription factor, Pax2, is important for cochlear development in the mouse inner ear...
  39. ncbi GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis
    Ming Chang Hu
    Program in Developmental Biology, Hospital for Sick Children, University of Toronto, Canada
    Development 133:569-78. 2006
    ..Shh deficiency decreased expression of kidney patterning genes (Pax2 and Sall1) and cell cycle regulators (cyclin D1 and MYCN)...
  40. pmc Abnormal positioning of diencephalic cell types in neocortical tissue in the dorsal telencephalon of mice lacking functional Gli3
    Vassiliki Fotaki
    Genes and Development Group, Biomedical Sciences, The University of Edinburgh, Edinburgh EH8 9XD, United Kingdom
    J Neurosci 26:9282-92. 2006
    ..We propose that Gli3 is indispensable for formation of an intact telencephalic-diencephalic boundary and for preventing the abnormal positioning of diencephalic cells in the dorsal telencephalon...
  41. pmc BMP receptor ALK3 controls collecting system development
    Sunny Hartwig
    Division of Nephrology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada
    J Am Soc Nephrol 19:117-24. 2008
    ..In summary, normal kidney development requires ALK3-dependent BMP signaling, which controls ureteric bud branching...
  42. pmc Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis
    U Muller
    Department of Physiology, University of California, San Francisco 94143, USA
    Cell 88:603-13. 1997
    ..The distribution of these ligand(s) makes them strong candidates for regulators of kidney morphogenesis...
  43. ncbi The basic-helix-loop-helix protein pod1 is critically important for kidney and lung organogenesis
    S E Quaggin
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada M5G 1X5
    Development 126:5771-83. 1999
    ..Defects specific to later specialized cell types where Pod1 is expressed, such as the podocytes, were also observed, suggesting that this transcription factor may play multiple roles in kidney morphogenesis...
  44. pmc Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter
    Y Miyazaki
    Department of Pediatrics, Department of Pathology, Department of Cell Biology, and Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    J Clin Invest 105:863-73. 2000
    ..The other is to promote the elongation of the branching ureter within the metanephros, thereby promoting kidney morphogenesis...
  45. ncbi Foxd1-dependent signals control cellularity in the renal capsule, a structure required for normal renal development
    Randy S Levinson
    Department of Urology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Development 132:529-39. 2005
    ....
  46. 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...
  47. ncbi Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish
    A W Puschel
    Institute of Neuroscience, University of Oregon, Eugene 97403
    Mech Dev 38:197-208. 1992
    ..Our results confirm that Pax genes are highly conserved both in sequences and in expression patterns, indicating that they may have a function during early development that has been conserved during vertebrate evolution...
  48. 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
    ..The mouse mutants will act as model systems for these human disorders and, in addition, will provide insights into the processes of vertebrate development...
  49. ncbi Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development
    U W Rothenpieler
    National Institute of Child Health and Human Development, Bethesda, MD 20892
    Development 119:711-20. 1993
    ..The data demonstrate that Pax-2 function is required for the earliest phase of mesenchyme-to-epithelium conversion...
  50. ncbi Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities
    G R Dressler
    Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Nature 362:65-7. 1993
    ..Thus, repression of Pax-2 is required for normal kidney development and persistent expression of Pax-2 may restrict the differentiation potential of renal epithelial cells...
  51. pmc The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney
    J Favor
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Oberschleissheim, Germany
    Proc Natl Acad Sci U S A 93:13870-5. 1996
    We describe a new mouse frameshift mutation (Pax2(1Neu)) with a 1-bp insertion in the Pax2 gene. This mutation is identical to a previously described mutation in a human family with renal-coloboma syndrome [Sanyanusin, P., McNoe, L. A...
  52. ncbi Pax2 expression and retinal morphogenesis in the normal and Krd mouse
    D C Otteson
    Department of Anatomy and Cell Biology, University of Michigan, Ann Arbor 48105, USA
    Dev Biol 193:209-24. 1998
    ..Kidney and retinal defects (Krd) mouse carries a 7-cM transgene-induced deletion on chromosome 19 that includes the Pax2 locus...
  53. ncbi Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium
    E M Surace
    Telethon Institute of Genetics and Medicine and the Universitá Vita e Salute, San Raffaele, Milan, Italy
    Invest Ophthalmol Vis Sci 41:4333-7. 2000
    ..The localization of Oa1 mRNA was studied and compared with the expression of other genes involved in melanosomal biogenesis...
  54. pmc Deregulated expression of the homeobox gene Cux-1 in transgenic mice results in downregulation of p27(kip1) expression during nephrogenesis, glomerular abnormalities, and multiorgan hyperplasia
    Aric W Ledford
    Department of Biology, East Carolina University, Greenville, NC 27858, USA
    Dev Biol 245:157-71. 2002
    ..Transient transfection experiments revealed that Cux-1 is an inhibitor of p27 promoter activity. These results suggest that Cux-1 regulates cell proliferation during early nephrogenesis by inhibiting expression of p27...
  55. 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...
  56. ncbi TBX1 is required for inner ear morphogenesis
    Francesca Vitelli
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 12:2041-8. 2003
    ..Our data suggest that Tbx1 deletion in del22q11 patients may cause not only external and middle ear defects but also sensorineural and vestibular phenotypes observed in these patients...
  57. ncbi Requirements for FGF3 and FGF10 during inner ear formation
    Yolanda Alvarez
    Center for Molecular Neurobiology Hamburg, University of Hamburg, Falkenried 94, D 20251 Hamburg, Germany
    Development 130:6329-38. 2003
    ..We thus created double mutant mice for FGF3 and FGF10, which form severely reduced otic vesicles, suggesting redundant roles of these FGFs, acting in combination as neural signals for otic vesicle formation...
  58. ncbi Generation of Pax2-Cre mice by modification of a Pax2 bacterial artificial chromosome
    Takahiro Ohyama
    Gonda Department of Cell and Molecular Biology, House Ear Institute, Los Angeles, California 90057, USA
    Genesis 38:195-9. 2004
    The Pax2 gene is expressed in the developing otocyst, kidney, and midbrain-hindbrain boundary. We generated Pax2-Cre transgenic lines by modification of a Pax2 bacterial artificial chromosome (BAC)...
  59. pmc Multiple requirements for Hes 1 during early eye formation
    Hae Young Lee
    Department of Pediatrics, Northwestern University Medical School at Children s Memorial Institute for Education and Research, Chicago, IL 60614, USA
    Dev Biol 284:464-78. 2005
    ..Together, these studies demonstrate that Hes1, like Pax6, simultaneously regulates multiple developmental processes during optic development...
  60. ncbi Pax 2/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney
    David Grote
    McGill Cancer Centre and Biochemistry Department, McGill University, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada
    Development 133:53-61. 2006
    ..The transcription factors Pax2 and Pax8 are essential for the initiation of pro- and mesonephros development...
  61. pmc Discs-large homolog 1 regulates smooth muscle orientation in the mouse ureter
    Zhen X Mahoney
    Department of Internal Medicine, Renal Division, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 103:19872-7. 2006
    ..Our results suggest that (i) besides its well documented role in regulating epithelial polarity, Dlgh1 also regulates smooth muscle orientation, and (ii) human DLG1 mutations may contribute to hereditary forms of hydronephrosis...
  62. doi Characterization of Foxp2-expressing cells in the developing spinal cord
    Y Morikawa
    Department of Anatomy and Neurobiology, Wakayama Medical University, 811 1, Kimiidera, Wakayama 641 8509, Japan
    Neuroscience 162:1150-62. 2009
    ..staining for Foxp2 with some homeodomain transcription factors revealed that Foxp2-expressing neurons were Pax2(+), En1(+), Evx1(-), Chx10(-), Gata3(-), and Lhx3(-) V1 interneurons in the intermediate zone throughout the ..
  63. pmc Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor
    G R Dressler
    Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 89:1179-83. 1992
    ..These data suggest that Pax-2 is a transcription factor active during the mesenchyme-to-epithelium transition in early kidney development and in Wilms tumor...
  64. ncbi Pax: a murine multigene family of paired box-containing genes
    C Walther
    Department of Molecular Cell Biology, Max Planck Institute for Biophysical Chemistry, Gottingen, Federal Republic of Germany
    Genomics 11:424-34. 1991
    ..The chromosomal location of all novel Pax genes and of Pax-3 and Pax-7 has been determined and reveals that they are not clustered...
  65. ncbi Spatially and temporally restricted expression of Pax2 during murine neurogenesis
    H O Nornes
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Gottingen, FRG
    Development 109:797-809. 1990
    The expression of the murine paired-box-containing gene, Pax2, is examined in the developing central nervous system by in situ hybridization. Pax2 expression is detected along the boundaries of primary divisions of the neural tube...
  66. ncbi A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye
    A T Dudley
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, USA
    Genes Dev 9:2795-807. 1995
    ..Consequently, homozygous mutant animals exhibit renal dysplasia and anophthalmia at birth. Overall, these findings identify BMP-7 as an essential signaling molecule during mammalian kidney and eye development...
  67. ncbi Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
    P Sanyanusin
    Department of Biochemistry, University of Otago, Dunedin, New Zealand
    Nat Genet 9:358-64. 1995
    Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system...
  68. ncbi Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4
    K Stark
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138
    Nature 372:679-83. 1994
    ..Thus, Wnt-4 appears to act as an autoinducer of the mesenchyme to epithelial transition that underlies nephron development...
  69. ncbi WT-1 is required for early kidney development
    J A Kreidberg
    Whitehead Institute for Biomedical Research Cambridge, Massachusetts 02142
    Cell 74:679-91. 1993
    ..In addition, the mutation caused abnormal development of the mesothelium, heart, and lungs. Our results establish a crucial role for WT-1 in early urogenital development...
  70. ncbi Aberrant expression of Pax-2 in Danforth's short tail (Sd) mice
    D E Phelps
    Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Dev Biol 157:251-8. 1993
    ..The Danforth's short tail mutation is a useful model for the study of developmentally regulated genes that are under the influence of the notochord or floor plate...
  71. ncbi Murine Pax-2 protein is a sequence-specific trans-activator with expression in the genital system
    H R Fickenscher
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Gottingen, Germany
    DNA Cell Biol 12:381-91. 1993
    ..Sequence-specific DNA binding and subsequent modulation of promoter activities may constitute the molecular mechanism of Pax-2 action in specific adult tissues and during development...
  72. ncbi Pax-2 controls multiple steps of urogenital development
    M Torres
    Abteilung Molekulare Zellbiologie, Max Planck Institut fur biophysikalische Chemie, Gottingen, Germany
    Development 121:4057-65. 1995
    ..These data show that Pax-2 is required for multiple steps during the differentiation of intermediate mesoderm. In addition, Pax-2 mouse mutants provide an animal model for human hereditary kidney diseases...
  73. 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...
  74. pmc Conserved biological function between Pax-2 and Pax-5 in midbrain and cerebellum development: evidence from targeted mutations
    M Schwarz
    Max Planck Institute for Biophysical Chemistry, Am Fassberg 37077 Göttingen, Germany
    Proc Natl Acad Sci U S A 94:14518-23. 1997
    ..Additionally, we show that one allele of Pax-2, but not Pax-5, is necessary and sufficient for midbrain and cerebellum development in C57BL/6 mice...
  75. 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
    ..Our findings reveal two distinct regulatory pathways for spinal cord neurogenesis, only one of which is dependent on Pax3/7 and 6...
  76. ncbi Pax2/5 and Pax6 subdivide the early neural tube into three domains
    M Schwarz
    Max Planck Institute of Biophysical Chemistry, Am Fassberg, 37077, Gottingen, Germany
    Mech Dev 82:29-39. 1999
    The nested expression patterns of the paired-box containing transcription factors Pax2/5 and Pax6 demarcate the midbrain and forebrain primordium at the neural plate stage...
  77. ncbi Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations
    M R Eccles
    Department of Biochemistry, University of Otago, Dunedin, New Zealand
    Clin Genet 56:1-9. 1999
    ..Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene...
  78. ncbi Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice
    S Porteous
    Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand
    Hum Mol Genet 9:1-11. 2000
    b>PAX2 mutations cause renal-coloboma syndrome (RCS), a rare multi-system developmental abnormality involving optic nerve colobomas and renal abnormalities...
  79. ncbi Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development
    R Nishinakamura
    Division of Stem Cell Regulation, Institute of Medical Science, The University of Tokyo, Japan
    Development 128:3105-15. 2001
    ..Sall1 is therefore essential for ureteric bud invasion, the initial key step for metanephros development...
  80. ncbi FGFR1 is required for the development of the auditory sensory epithelium
    Ulla Pirvola
    Institute of Biotechnology, 00014 University of Helsinki, Helsinki, Finland
    Neuron 35:671-80. 2002
    ..Our data also suggest that FGFR1 might have a distinct later role in intercellular signaling within the differentiating auditory sensory epithelium...
  81. pmc Zinc finger protein sall2 is not essential for embryonic and kidney development
    Akira Sato
    Division of Stem Cell Regulation, The Institute of Medical Science, The University of Tokyo, Japan
    Mol Cell Biol 23:62-9. 2003
    ..Mice lacking both Sall1 and Sall2 show kidney phenotypes comparable to those of Sall1 knockout, thereby demonstrating the dispensable roles of Sall2 in embryonic and kidney development...
  82. ncbi Evidence that bone morphogenetic protein 4 has multiple biological functions during kidney and urinary tract development
    Yoichi Miyazaki
    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232 2584, USA
    Kidney Int 63:835-44. 2003
    ..In the present study, we examine the effect of BMP4 on the development of metanephric and periureteral mesenchymal cells, which express the BMP type I receptor gene, Bmpr1a (Alk3)...
  83. ncbi Retinal pigmented epithelium determination requires the redundant activities of Pax2 and Pax6
    Nicole Baumer
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Am Fassberg 11, D 37077 Gottingen, Germany
    Development 130:2903-15. 2003
    The transcription factors Pax2 and Pax6 are co-expressed in the entire optic vesicle (OV) prior and concomitant with the establishment of distinct neuroretinal, retinal, pigmented-epithelial and optic-stalk progenitor domains, suggesting ..
  84. ncbi Retinal ganglion cell-derived sonic hedgehog signaling is required for optic disc and stalk neuroepithelial cell development
    Gabriel D Dakubo
    Molecular Medicine Program, Ottawa Health Research Institute, 501 Smyth Road, Ottawa, ON K1H 8L6, Canada
    Development 130:2967-80. 2003
    ..We further show that Shh signaling modulates the size of the Pax2(+) astrocyte precursor cell population at the optic disc in vitro...
  85. ncbi Fgf3 and Fgf10 are required for mouse otic placode induction
    Tracy J Wright
    Department of Human Genetics, University of Utah, Salt Lake City, UT 84112 5330, USA
    Development 130:3379-90. 2003
    ..Finally, examination of embryos carrying three out of the four mutant Fgf alleles revealed intermediate phenotypes, suggesting a quantitative requirement for FGF signalling in otic vesicle formation...
  86. ncbi Suppression of neural fate and control of inner ear morphogenesis by Tbx1
    Steven Raft
    Department of Neuroscience, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Development 131:1801-12. 2004
    ..We propose that Tbx1 acts in the manner of a selector gene to control neural and sensory organ fate specification in the otocyst...
  87. ncbi Gremlin-mediated BMP antagonism induces the epithelial-mesenchymal feedback signaling controlling metanephric kidney and limb organogenesis
    Odysse Michos
    Developmental Genetics, Dept of Clinical Biological Sciences DKBW University of Basel Medical School, c o Anatomy Institute, Pestalozzistrasse 20, CH 4056 Basel, Switzerland
    Development 131:3401-10. 2004
    ..As a consequence, the metanephric mesenchyme is eliminated by apoptosis, in the same way as the core mesenchymal cells of the limb bud...
  88. ncbi FGF8 is required for cell survival at distinct stages of nephrogenesis and for regulation of gene expression in nascent nephrons
    Uta Grieshammer
    Department of Anatomy and Program in Developmental Biology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143 2711, USA
    Development 132:3847-57. 2005
    ..Thus, unlike other FGF family members, which regulate growth and branching morphogenesis of the collecting duct system, Fgf8 encodes a factor essential for gene regulation and cell survival at distinct steps in nephrogenesis...
  89. ncbi Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells
    Nicolas Matt
    Institut de Génétique et de Biologie Moléculaire et Cellulaire IGBMC Collège de France, BP10142, 67404 Illkirch Cedex, CU de Strasbourg, France
    Development 132:4789-800. 2005
    ..We additionally show that RALDH1 and RALDH3 are the only enzymes that are required for RA synthesis in the eye region from E10.5 to E13.5, and that patterning of the dorsoventral axis of the retina does not require RA...
  90. pmc Odd-skipped related 1 (Odd 1) is an essential regulator of heart and urogenital development
    Qingru Wang
    Center for Oral Biology and Department of Biomedical Genetics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 611, Rochester, NY 14642, USA
    Dev Biol 288:582-94. 2005
    ..molecular marker analyses show that key regulators of early intermediate mesoderm development, including Lhx1, Pax2, and Wt1, are all down-regulated and nephrogenic mesenchyme undergoes massive apoptosis, resulting in disruption of ..
  91. ncbi Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH
    Julian Morcillo
    Departamento de Neurobiologia del Desarrollo, Instituto Cajal, CSIC, Dr Arce 37, Madrid 28002, Spain
    Development 133:3179-90. 2006
    ..precursors can be recognised by the expression of netrin 1 and the overlapping distribution of both optic stalk (Pax2, Vax1) and ventral neural retina markers (Vax2, Raldh3)...
  92. pmc The ECM protein nephronectin promotes kidney development via integrin alpha8beta1-mediated stimulation of Gdnf expression
    James M Linton
    Department of Physiology, 1550 Fourth Street, University of California, San Francisco, San Francisco, CA 94143, USA
    Development 134:2501-9. 2007
    ..Our results thus place nephronectin and alpha8beta1 integrin in a pathway that regulates Gdnf expression and is essential for kidney development...
  93. pmc A Hox-Eya-Pax complex regulates early kidney developmental gene expression
    Ke Qin Gong
    Division of Molecular Medicine and Genetics, Department of Internal Medicine, University of Michigan Medical Center, 109 Zina Pitcher, 3045 BSRB, Ann Arbor, MI 48109 2200, USA
    Mol Cell Biol 27:7661-8. 2007
    ..Herein, we demonstrate that Hox11 paralogous proteins form a complex with Pax2 and Eya1 to directly activate expression of Six2 and Gdnf in the metanephric mesenchyme...
  94. ncbi Vesico-ureteric reflux and urinary tract development in the Pax2 1Neu+/- mouse
    Inga J Murawski
    Department of Pediatrics, Montreal Children s Hospital, McGill University, Quebec, Canada
    Am J Physiol Renal Physiol 293:F1736-45. 2007
    ..roughly one-third of patients with renal-coloboma syndrome, an autosomal dominant condition caused by a mutation in PAX2. Here, we report that a mouse model with an identical mutation, the Pax2 1Neu+/- mouse, has a 30% incidence of VUR...
  95. pmc Investigation of Frizzled-5 during embryonic neural development in mouse
    Carole J Burns
    Department of Neurobiology and Anatomy, John A Moran Eye Center, University of Utah, Salt Lake City, Utah 84132, USA
    Dev Dyn 237:1614-26. 2008
    ..Thus, the function of Fzd5 during eye development appears to be species-dependent...
  96. pmc Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance
    Martine Manuel
    Genes and Development Group, Centres for Integrative Physiology and Neuroscience Research, Hugh Robson Building, George Square, University of Edinburgh, Edinburgh EH8 9XD, UK
    BMC Dev Biol 8:59. 2008
    ..Here, we examined the consequences of over-expression for the eye and its axonal connections...
  97. doi Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis
    Nicolas Matt
    UPR9022 du CNRS, IBMC, 15 rues Descartes, 67084 Strasbourg, France
    Dev Biol 320:140-8. 2008
    ..Interestingly, we observed that RA is required in the neural crest cells for normal position of the extraocular muscle...
  98. pmc Non-homeodomain regions of Hox proteins mediate activation versus repression of Six2 via a single enhancer site in vivo
    Alisha R Yallowitz
    Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI 48109 2200, USA
    Dev Biol 335:156-65. 2009
    ....
  99. pmc BMP7 promotes proliferation of nephron progenitor cells via a JNK-dependent mechanism
    Ulrika Blank
    Department of Molecular Medicine, Maine Medical Center Research Institute, 81 Research Drive, Scarborough, ME 04074, USA
    Development 136:3557-66. 2009
    ..This signaling results in the accumulation of cyclin D3 and subsequent proliferation of PAX2(+) progenitors, inversely correlating with the loss of nephron progenitors seen in the Bmp7-null kidney...
  100. pmc Fgfr1 and the IIIc isoform of Fgfr2 play critical roles in the metanephric mesenchyme mediating early inductive events in kidney development
    Sunder Sims-Lucas
    Rangos Research Center, Children s Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, USA
    Dev Dyn 240:240-9. 2011
    ..5, expressing mesenchymal markers including Eya1, Six2, Pax2, and Gdnf (unlike Fgfr1/2(Mes-/-) mice that have no obvious MM). E11...
  101. pmc Conditional deletion of Atoh1 using Pax2-Cre results in viable mice without differentiated cochlear hair cells that have lost most of the organ of Corti
    Ning Pan
    University of Iowa, Department of Biology, 143 BB, Iowa City, IA 52242, USA
    Hear Res 275:66-80. 2011
    ..The fate of these undifferentiated cells in neonates is unknown due to lethality. We use Tg(Pax2-Cre) to delete floxed Atoh1 in the inner ear...

Research Grants7

  1. IR-INDUCED APOPTOSIS IN THE DEVELOPING NERVOUS SYSTEM
    PETER MCKINNON; Fiscal Year: 2004
    ..Moreover, as neurodegenerative disease may engage similar apoptotic pathways, the findings from this proposal will be relevant for understanding neuronal death in neurodegenerative disease. ..
  2. ATM and DNA Damage in the Nervous System
    PETER MCKINNON; Fiscal Year: 2007
    ..abstract_text> ..
  3. 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...
  4. 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. ..
  5. Specification of Dorsal Lbx1-Derived Interneurons
    Martyn Goulding; Fiscal Year: 2007
    ..The observation that Pax2 is required for dorsal GABAergic and glycinergic development makes these dorsal horn interneurons an excellent ..
  6. The function of Foxi3 in craniofacial development
    Takahiro Ohyama; Fiscal Year: 2008
    ..We will generate floxed "stop"+Foxi3 transgenic mice and mate them with the Pax2-Cre mice...
  7. Investigating the Role of Tbx1 in Ear Development
    Evan Braunstein; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..