PAX3

Summary

Gene Symbol: PAX3
Description: paired box 3
Alias: CDHS, HUP2, WS1, WS3, paired box protein Pax-3, paired box homeotic gene 3, paired domain gene 3, paired domain gene HuP2, transcriptional factor PAX3
Species: human

Top Publications

  1. ncbi Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma
    F G Barr
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, Pennsylvania
    Nat Genet 3:113-7. 1993
  2. ncbi Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR
    C M Margue
    Institute of Biochemistry, ETH Zurich, Switzerland
    Oncogene 19:2921-9. 2000
  3. ncbi Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
    N Bondurand
    Génétique Moléculaire et Physiopathologie, INSERM U468, et Laboratoire de Biochimie et Génétique Moléculaire, AP HP, Hopital Henri Mondor, Creteil Cedex, France
    Hum Mol Genet 9:1907-17. 2000
  4. pmc GSK-3 promotes cell survival, growth, and PAX3 levels in human melanoma cells
    Jennifer D Kubic
    Department of Medicine, University of Chicago, Chicago, IL, USA
    Mol Cancer Res 10:1065-76. 2012
  5. pmc A phosphatidylinositol 3-kinase-Pax3 axis regulates Brn-2 expression in melanoma
    Elise Bonvin
    Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford, United Kingdom
    Mol Cell Biol 32:4674-83. 2012
  6. ncbi Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nature 355:635-6. 1992
  7. ncbi Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues
    K Tsukamoto
    Department of Biochemistry, Cancer Institute, Tokyo, Japan
    Hum Genet 93:270-4. 1994
  8. ncbi Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma
    D N Shapiro
    Department of Experimental Oncology, St Jude Children s Research Hospital, Memphis, Tennessee 38105
    Cancer Res 53:5108-12. 1993
  9. ncbi Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
    N Galili
    Wistar Institute, Philadelphia, Pennsylvania 19104
    Nat Genet 5:230-5. 1993
  10. pmc Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
    C F Hoth
    Center for Human Genetics, Boston University School of Medicine, MA 02118
    Am J Hum Genet 52:455-62. 1993

Research Grants

  1. Mechanism of regulation for the oncogenic Pax3-FOXO1 in Alveolar Rhabdomyosarcoma
    ANDREW DURRELL HOLLENBACH; Fiscal Year: 2013
  2. A Cis-regulatory Model for Neural Border Induction
    Daniel Meulemans Medeiros; Fiscal Year: 2013
  3. The Role of Ets1 in Melanocyte Development
    Lidia Kos; Fiscal Year: 2012
  4. Pax genes in cardiac development
    ZACHARY PAUL NEEB; Fiscal Year: 2012
  5. SEARCH FOR THE MOLECULAR CAUSES OF DIABETIC EMBRYOPATHY
    Mary R Loeken; Fiscal Year: 2013
  6. Jean Pierre Saint-Jeannet; Fiscal Year: 2014
  7. Lisa J Bain; Fiscal Year: 2014
  8. KELLY ELAINE JOHANSON; Fiscal Year: 2014
  9. Therapeutic Targets in Alveolar Rhabdomyosarcoma
    Charles Keller; Fiscal Year: 2012
  10. Mary R Loeken; Fiscal Year: 2014

Detail Information

Publications208 found, 100 shown here

  1. ncbi Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma
    F G Barr
    Division of Human Genetics and Molecular Biology, Children s Hospital of Philadelphia, Pennsylvania
    Nat Genet 3:113-7. 1993
    We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome) is the chromosome 2 locus rearranged by the t(2;13)(q35;q14) translocation of the paediatric solid tumour alveolar rhabdomyosarcoma...
  2. ncbi Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR
    C M Margue
    Institute of Biochemistry, ETH Zurich, Switzerland
    Oncogene 19:2921-9. 2000
    The aberrant expression of the transcription factors PAX3 and PAX3/FKHR associated with rhabdomyosarcoma (RMS), solid tumors displaying muscle cell features, suggests that these proteins play an important role in the pathogenesis of RMS...
  3. ncbi Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
    N Bondurand
    Génétique Moléculaire et Physiopathologie, INSERM U468, et Laboratoire de Biochimie et Génétique Moléculaire, AP HP, Hopital Henri Mondor, Creteil Cedex, France
    Hum Mol Genet 9:1907-17. 2000
    ..WS1 and WS3 are due to mutations in the PAX3 gene whereas some WS2 cases are associated with mutations in the microphthalmia-associated transcription factor (..
  4. pmc GSK-3 promotes cell survival, growth, and PAX3 levels in human melanoma cells
    Jennifer D Kubic
    Department of Medicine, University of Chicago, Chicago, IL, USA
    Mol Cancer Res 10:1065-76. 2012
    ..These alterations coincided with loss of PAX3, a transcription factor implicated in proliferation, survival, and migration of developing melanoblasts...
  5. pmc A phosphatidylinositol 3-kinase-Pax3 axis regulates Brn-2 expression in melanoma
    Elise Bonvin
    Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford, United Kingdom
    Mol Cell Biol 32:4674-83. 2012
    ..b>Pax3, a transcription factor regulating melanocyte lineage-specific genes, directly binds and regulates the Brn-2 ..
  6. ncbi Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nature 355:635-6. 1992
    ..Thus mutations in the Pax genes are important causes of human developmental defects...
  7. ncbi Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues
    K Tsukamoto
    Department of Biochemistry, Cancer Institute, Tokyo, Japan
    Hum Genet 93:270-4. 1994
    We have isolated two isoforms of cDNA clones from the human PAX3 gene, a candidate gene responsible for Waardenburg syndrome type I (WSI) as well as a gene associated with development of alveolar rhabdomyosarcoma...
  8. ncbi Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma
    D N Shapiro
    Department of Experimental Oncology, St Jude Children s Research Hospital, Memphis, Tennessee 38105
    Cancer Res 53:5108-12. 1993
    ..This translocation is associated with a structural rearrangement of the gene encoding PAX3, a presumed transcriptional regulator expressed exclusively during embryogenesis...
  9. ncbi Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
    N Galili
    Wistar Institute, Philadelphia, Pennsylvania 19104
    Nat Genet 5:230-5. 1993
    ..Polymerase chain reaction analysis demonstrates that a 5'PAX3-3' FKHR chimaeric transcript is expressed in all eight alveolar rhabdomyosarcomas investigated...
  10. pmc Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)
    C F Hoth
    Center for Human Genetics, Boston University School of Medicine, MA 02118
    Am J Hum Genet 52:455-62. 1993
    ..We have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I...
  11. ncbi The mutational spectrum in Waardenburg syndrome
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 4:2131-7. 1995
    ..syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes...
  12. ncbi Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors
    D J Smit
    Centre for Molecular and Cellular Biology, University of Queensland, Brisbane, Queensland, Australia
    Eur J Biochem 267:6413-22. 2000
    ....
  13. ncbi PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group
    Poul H B Sorensen
    Department of Pathology, Children s and Women s Hospital of British Columbia, Vancouver, British Columbia, Canada
    J Clin Oncol 20:2672-9. 2002
    ..Most ARMS patients express PAX3-FKHR or PAX7-FKHR gene fusions resulting from t(2;13) or t(1;13) translocations, respectively...
  14. ncbi Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
    Deborah Lang
    Cardiovascular Division, Department of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104, USA
    Hum Mol Genet 12:937-45. 2003
    ..One example is Waardenburg syndrome that can be caused by mutations in the PAX3, SOX10 or MITF genes...
  15. ncbi Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin
    Craig J Parker
    Department of Biological Sciences, Manchester Metropolitan University, Manchester, United Kingdom
    Int J Cancer 108:314-20. 2004
    ..We propose that these and the 2 new isoforms we have discovered may be important in oncogenesis and differential diagnosis of melanomas or SCLC...
  16. ncbi Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1
    Marco Wachtel
    University Children s Hospital, Division of Oncology, Zurich, Switzerland
    Cancer Res 64:5539-45. 2004
    ..The majority, but not all, alveolar rhabdomyosarcoma carry the specific PAX3(7)/FKHR-translocation, whereas there is no consistent genetic abnormality recognized in embryonal rhabdomyosarcoma...
  17. ncbi Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR
    Salma Begum
    Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada M5S 1A8
    Oncogene 24:1860-72. 2005
    The oncogenic fusion protein, Pax3/FKHR, is a more potent transcription factor relative to its normal counterpart, Pax3...
  18. ncbi Pax3 functions at a nodal point in melanocyte stem cell differentiation
    Deborah Lang
    Cardiovascular Division, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nature 433:884-7. 2005
    ..Here we describe the molecular details of a nodal point in adult melanocyte stem cell differentiation in which Pax3 simultaneously functions to initiate a melanogenic cascade while acting downstream to prevent terminal ..
  19. pmc A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb
    Lola Bajard
    Centre National de la Recherche Scientifique URA 2578, Department of Developmental Biology, Pasteur Institute, 75015 Paris, France
    Genes Dev 20:2450-64. 2006
    ..Null mutations in Pax3, a key regulator of skeletal muscle formation, lead to cell death in this domain...
  20. pmc Identification of a new class of PAX3-FKHR target promoters: a role of the Pax3 paired box DNA binding domain
    L Zhang
    Center for Molecular Biology of Oral Diseases, University of Illinois at Chicago, Chicago, IL 60612, USA
    Oncogene 26:1595-605. 2007
    ..carries a unique t(2;13) chromosomal translocation resulting in the formation of a chimeric transcription factor PAX3-FKHR...
  21. ncbi Investigation of downstream target genes of PAX3c, PAX3e and PAX3g isoforms in melanocytes by microarray analysis
    Qiuyu Wang
    School of Biology, Chemistry and Health Science, Manchester Metropolitan University, Manchester, United Kingdom
    Int J Cancer 120:1223-31. 2007
    b>PAX3 encodes a transcription factor, which with Zic1 is necessary for induction of the neural crest during early embryonic development. There are 7 human PAX3 isoforms (a-h). PAX3e is the full length isoform comprising 10 exons...
  22. ncbi The oncogenic transcription factor PAX3-FKHR can convert fibroblasts into contractile myotubes
    Claudio Scuoppo
    Center for Experimental Research and Medical Studies CERMS, Molinette Hospital, Turin, Italy
    Exp Cell Res 313:2308-17. 2007
    b>PAX3-FKHR, the product of a rearrangement of PAX3 with FKHR is the pathogenetic marker for alveolar rhabdomyosarcoma, an aggressive form of childhood cancer...
  23. ncbi The PAX3-FKHR fusion gene of rhabdomyosarcoma cooperates with loss of p16INK4A to promote bypass of cellular senescence
    Corinne M Linardic
    Department of Pediatrics, Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC 27710, USA
    Cancer Res 67:6691-9. 2007
    ..ARMS is characterized by a chromosomal translocation generating the PAX3-FKHR fusion gene...
  24. ncbi Effects of PAX3-FKHR on malignant phenotypes in alveolar rhabdomyosarcoma
    Ken Kikuchi
    Department of Pediatrics, Kyoto Prefectural University of Medicine, 465 Kajii cho, Kawaramchi Hirokoji, Kamigyo ku, Kyoto 602 8566, Japan
    Biochem Biophys Res Commun 365:568-74. 2008
    The malignancy of alveolar rhabdomyosarcoma (ARMS) has been linked to expression of the PAX3-FKHR chimeric gene...
  25. pmc PAX3 expression in primary melanomas and nevi
    Rebecca S Plummer
    Section of Dermatology, Department of Medicine, University of Chicago, Chicago, IL, USA
    Mod Pathol 21:525-30. 2008
    ..The transcription factor PAX3 has a well-established role in the development of melanocytes during embryogenesis, and has recently been ..
  26. doi Phosphorylation regulates transcriptional activity of PAX3/FKHR and reveals novel therapeutic possibilities
    Ralf Amstutz
    Department of Oncology and Division of Clinical Chemistry and Biochemistry, University Children s Hospital, University Hospital Zurich, Zurich, Switzerland
    Cancer Res 68:3767-76. 2008
    ..aRMS), in which specific translocations lead to the formation of the chimeric transcription factor PAX3/FKHR...
  27. doi Inhibition of PAX3 by TGF-beta modulates melanocyte viability
    Guang Yang
    Department of Medical Oncology, Dana Farber Cancer Institute, Children s Hospital Boston, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA
    Mol Cell 32:554-63. 2008
    The protein encoded by paired-box homeotic gene 3 (PAX3) is a key regulator of the microphthalmia-associated transcription factor (Mitf) in the melanocyte lineage...
  28. pmc High expression of the PAX3-FKHR oncoprotein is required to promote tumorigenesis of human myoblasts
    Shujuan J Xia
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6082, USA
    Am J Pathol 175:2600-8. 2009
    b>PAX3-FKHR is a fusion oncoprotein generated by the 2;13 chromosomal translocation in alveolar rhabdomyosarcoma (ARMS), a cancer associated with the skeletal muscle lineage...
  29. pmc PAX3-FOXO1 induces up-regulation of Noxa sensitizing alveolar rhabdomyosarcoma cells to apoptosis
    Amy D Marshall
    Department of Genetics, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Neoplasia 15:738-48. 2013
    ..Most ARMS tumors characteristically possess a specific genomic translocation between the genes of PAX3/7 and FOXO1 (FKHR), which forms fusion proteins possessing the DNA binding domains of PAX3/7 and the more ..
  30. ncbi An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    C T Baldwin
    Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118
    Nature 355:637-8. 1992
    ..The mutation was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression...
  31. pmc Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium
    L A Farrer
    Department of Neurology, Boston University School of Medicine, MA 02118
    Am J Hum Genet 50:902-13. 1992
    ..which were typed for six polymorphic loci on chromosome 2q in order to refine the location of the WS locus (WS1) and evaluate the extent of genetic heterogeneity...
  32. pmc The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3
    W J Fredericks
    Wistar Institute, University of Pennsylvania School of Medicine, Philadelphia 19104
    Mol Cell Biol 15:1522-35. 1995
    ..on each chromosome involved in this translocation have been identified as the transcription factor-encoding genes PAX3 and FKHR...
  33. ncbi Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
    M Tassabehji
    University Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Nat Genet 3:26-30. 1993
    ..show linkage with markers on distal 2q and in three cases the disease has been attributed to mutations in the PAX3 gene. PAX3 encodes a paired domain, a highly conserved octapeptide and probably also a paired-type homeodomain...
  34. ncbi Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1
    H Soejima
    Department of Human Genetics, Nagasaki University School of Medicine, Japan
    Hum Mutat 9:177-80. 1997
  35. ncbi Normal and rearranged PAX3 expression in human rhabdomyosarcoma
    E Frascella
    Department of Pediatrics, University of Padova, Italy
    Cancer Genet Cytogenet 102:104-9. 1998
    b>PAX3, a member of the PAX-gene family, encodes a nuclear transcription factor that is transiently expressed in the neural tube and in muscle progenitor cells and regulates embryonal development in the mouse...
  36. ncbi Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
    Bernd Wollnik
    Division of Medical Genetics, Child Health Institute, Istanbul University, Istanbul, Turkey
    Am J Med Genet A 122:42-5. 2003
    ..syndrome (WS-I) is an auditory-pigmentary syndrome caused by heterozygous loss of function mutations in the PAX3 gene...
  37. ncbi Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression
    Oana Tomescu
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Lab Invest 84:1060-70. 2004
    In the pediatric cancer alveolar rhabdomyosarcoma (ARMS), the 2;13 chromosomal translocation juxtaposes the PAX3 and FKHR genes to generate a chimeric transcription factor...
  38. ncbi Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma
    Shouying Du
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Int J Cancer 115:85-92. 2005
    b>PAX3 and PAX7 encode transcription factors implicated in the pathogenesis of rhabdomyosarcoma (RMS), including alveolar RMS in which chromosomal translocations generate PAX3-FKHR and PAX7-FKHR fusions...
  39. ncbi Pax3 transcripts in melanoblast development
    Judith A Blake
    School of Exercise, Biomedical and Health Science, Edith Cowan University, 100 Joondalup Drive, Joondalup, Western Australia 6027, Australia
    Dev Growth Differ 47:627-35. 2005
    The transcription factor encoded by PAX3 is among the first expressed in the embryo, with a key role in development of the melanocytic lineage...
  40. ncbi Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro
    Qiuyu Wang
    School of Biology, Chemistry and Health Science, Manchester Metropolitan University, Manchester, United Kingdom
    Cancer Res 66:8574-80. 2006
    Transcription factor PAX3 has seven isoforms of which PAX3c has been studied extensively whereas the functions of the other isoforms are less well known...
  41. ncbi Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR
    M Ebauer
    Department of Oncology, University Children s Hospital, Zurich, Switzerland
    Oncogene 26:7267-81. 2007
    ..for the aggressive childhood cancer alveolar rhabdomyosarcoma (aRMS), generates the chimeric transcription factor PAX3/FKHR with a well known oncogenic role...
  42. ncbi The value of MLPA in Waardenburg syndrome
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
    Genet Test 11:179-82. 2007
    ..Point mutations in PAX3 have been identified in more than 90% of affected individuals with WS Type 1/WS Type 3...
  43. doi Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant target
    Gabriela E Mercado
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Genes Chromosomes Cancer 47:510-20. 2008
    ..ARMS is characterized by a frequent 2;13 chromosomal translocation that creates a PAX3-FKHR fusion transcription factor...
  44. pmc Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family
    Janos Sumegi
    Division of Hematology Oncology, Cincinnati Children s Hospital Medical Center, University of Cincinnati, Faculty of Medicine, Cincinnati, OH, USA
    Genes Chromosomes Cancer 49:224-36. 2010
    The fusion oncoproteins PAX3-FOXO1 [t(2;13)(q35;q14)] and PAX7-FOXO1 [t(1;13)(p36;q14)] typify alveolar rhabdomyosarcoma (ARMS); however, 20-30% of cases lack these specific translocations...
  45. doi Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma
    Daniel Williamson
    INSERM Unité 830, Unité de Génétique Somatique, Institut Curie, Paris, France
    J Clin Oncol 28:2151-8. 2010
    ....
  46. pmc PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
    Juan Wang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, PR China
    Mol Vis 16:1146-53. 2010
    To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1).
  47. pmc IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS)
    Fabrizio Picchione
    Department of Genetics and Tumor Cell Biology, St Jude Children s Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA
    Carcinogenesis 32:452-61. 2011
    ..rhabdomyosarcoma (ARMS) is characterized by the t(2;13) or t(1;13) chromosomal translocations, which generate the PAX3-FOXO1 or PAX7-FOXO1 fusion genes, respectively...
  48. doi Alternate PAX3 and PAX7 C-terminal isoforms in myogenic differentiation and sarcomagenesis
    Elizabeth Charytonowicz
    School of Exercise Biomedical and Health Science, Edith Cowan University, Joondalup, Australia
    Clin Transl Oncol 13:194-203. 2011
    b>Pax3 and Pax7 are closely related genes that are involved in commitment of cells to a myogenic lineage during skeletal muscle development and regeneration...
  49. pmc Nephroblastoma overexpressed (NOV/CCN3) gene: a paired-domain-specific PAX3-FKHR transcription target that promotes survival and motility in alveolar rhabdomyosarcoma cells
    Y Zhang
    Center for Molecular Biology of Oral Diseases, University of Illinois at Chicago, Chicago, IL 60612, USA
    Oncogene 30:3549-62. 2011
    ..Over 80% of aRMSs are characterized by a chromosomal translocation-derived fusion transcription factor PAX3-FKHR. In this study, we linked elevated CCN3 levels in aRMS cells to PAX3-FKHR expression...
  50. pmc Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation
    Kevin N Dietz
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA
    Int J Biochem Cell Biol 43:936-45. 2011
    b>Pax3, a member of the paired class homeodomain family of transcription factors, is essential for early skeletal muscle development and is key in the development of the childhood solid muscle tumor alveolar rhabdomyosarcoma (ARMS)...
  51. ncbi PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
    M Tassabehji
    Department of Medical Genetics, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 3:1069-74. 1994
    The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the embryo...
  52. ncbi PAX3 gene structure, alternative splicing and evolution
    T D Barber
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
    Gene 237:311-9. 1999
    b>PAX3 is a member of the paired box family of transcription factors that function during embryogenesis and cancer epigenesis...
  53. ncbi A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome
    Wei Qin
    Bio X Center, Shanghai Jiao Tong University, Shanghai, China
    Mol Vis 12:1001-8. 2006
    The molecular characterization of 34 members of a Chinese family, with 22 members in four generations, affected with Waardenburg syndrome (WS1).
  54. ncbi Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein
    A Cvekl
    Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892 2730, USA
    Invest Ophthalmol Vis Sci 40:1343-50. 1999
    ..To identify proteins that physically interact with Pax-6, a paired domain- and homeodomain (HD)-containing transcription factor that is a key regulator of eye development...
  55. ncbi Sclerosing rhabdomyosarcoma in adults: report of four cases of a hyalinizing, matrix-rich variant of rhabdomyosarcoma that may be confused with osteosarcoma, chondrosarcoma, or angiosarcoma
    Andrew L Folpe
    Department of Pathology and Laboratory Medicine, Emory University, Atlanta, Georgia 30322, USA
    Am J Surg Pathol 26:1175-83. 2002
    ..Reverse transcriptase polymerase chain reaction for the ARMS-associated PAX3/FKHR and PAX7/PKHF was also performed on three cases...
  56. ncbi Effects of p,p'-DDE on immature cells in culture at concentrations relevant to the Alaskan environment
    J Simonetti
    Department of Biological Sciences/Biomedical Program, University of Alaska Anchorage, 3211 Providence Drive, Anchorage, AK 99508, USA
    Toxicol In Vitro 15:169-79. 2001
    ..NIH 3T3 (embryonic mouse fibroblast) and WS1 (human fetal fibroblast) cultures were exposed to media containing either 1 or 10 times the average cord blood ..
  57. ncbi PAX3/forkhead homolog in rhabdomyosarcoma oncoprotein activates glucose transporter 4 gene expression in vivo and in vitro
    Michal Armoni
    Institute of Endocrinology, Diabetes and Metabolism, Rambam Medical Center, Technion Israel Institute of Technology, Haifa 31096, Israel
    J Clin Endocrinol Metab 87:5312-24. 2002
    ..In the muscle-derived tumor alveolar rhabdomyosarcoma (ARMS), a chromosomal translocation t(2:13) generates the PAX3/forkhead homolog in rhabdomyosarcoma (FKHR) oncoprotein...
  58. pmc Examination of gene fusion status in archival samples of alveolar rhabdomyosarcoma entered on the Intergroup Rhabdomyosarcoma Study-III trial: a report from the Children's Oncology Group
    Frederic G Barr
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6100, USA
    J Mol Diagn 8:202-8. 2006
    Alveolar rhabdomyosarcoma (ARMS) is a soft tissue cancer in which chromosomal translocations generate PAX3-FKHR and PAX7-FKHR gene fusions...
  59. ncbi Genetic heterogeneity in the alveolar rhabdomyosarcoma subset without typical gene fusions
    Frederic G Barr
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Res 62:4704-10. 2002
    Previous studies of the PAX3-FKHR and PAX7-FKHR gene fusions in alveolar rhabdomyosarcoma (ARMS) indicated that the corresponding fusiontranscripts are not detectable in 20% of ARMS cases...
  60. ncbi Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma
    F G Barr
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, 36th Street and Hamilton Walk, Philadelphia, Pennsylvania, PA 19104 6082, USA
    Oncogene 20:5736-46. 2001
    ..These translocations rearrange PAX3 and PAX7, members of the paired box transcription factor family, and juxtapose these genes with FKHR, a member of ..
  61. ncbi Correlation between histology and PAX/FKHR fusion status in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group
    David M Parham
    Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA
    Am J Surg Pathol 31:895-901. 2007
    ..molecular level, alveolar rhabdomyosarcomas (ARMS) are characterized by 3 mutually exclusive PAX/FKHR conditions: PAX3/FKHR fusion (present in 60% of cases), PAX7/FKHR fusion (present in 20%), and PAX/FKHR fusion-negativity (present ..
  62. ncbi Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan
    Y Tomita
    Department of Dermatology, Nagoya University School of Medicine, Japan
    Pigment Cell Res 13:130-4. 2000
    ..The transcription factor paired box 3 (PAX3) works at the promoter region of the microphthalmia-associated transcription factor (MITF) gene, and the MITF ..
  63. pmc Lack of effective T-lymphocyte response to the PAX3/FKHR translocation area in alveolar rhabdomyosarcoma
    David A Rodeberg
    Department of Surgery, Mayo Clinic, 200 First Street, SW, Rochester, MN, 55905, USA
    Cancer Immunol Immunother 54:526-34. 2005
    Alveolar rhabdomyosarcoma (ARMS) frequently contains the fusion transcription factor PAX3/FKHR. Therefore, clinical studies have been initiated to utilize the PAX3/FKHR translocation point area as a peptide vaccine against ARMS...
  64. pmc Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function
    Charles Keller
    Division of Pediatric Hematology Oncology and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Genes Dev 18:2614-26. 2004
    ..We report the first mouse model of alveolar rhabdomyosarcoma using a conditional Pax3:Fkhr knock-in allele whose activation in late embryogenesis and postnatally is targeted to terminally ..
  65. ncbi [Influences of PAX3-FKHR transfection on expression of MRF4 and differentiation of cultured human rhabdomyosarcoma RD cells]
    Guang hui Li
    Military Center of Tumor Treatment, Xinqiao Hospital, Third Military Medical University, Chongqing, 400037, P R China
    Ai Zheng 22:30-4. 2003
    There were a few reports about the role of PAX3-FKHR fusion gene in the oncogenesis of alveolar rhabdomyosarcoma (ARMS); however, its effect on muscle-producing factor (MPF) is not clear...
  66. pmc A Drosophila model of the rhabdomyosarcoma initiator PAX7-FKHR
    Rene L Galindo
    Division of Pediatric Pathology, Department of Pathology, Children s Medical Center, Dallas, TX 75235, USA
    Proc Natl Acad Sci U S A 103:13439-44. 2006
    ..ARMS) is an aggressive myogenic-type tumor and a gain-of-function disease, caused by misexpression of the PAX3-FKHR or PAX7-FKHR fusion oncoprotein from structurally rearranged chromosomes...
  67. pmc Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome?
    J Anderson
    Section of Paediatric Oncology, Institute of Cancer Research, Sutton, Surrey, UK
    Br J Cancer 85:831-5. 2001
    ..Alveolar histology is associated with the fusion genes PAX3-FKHR and PAX7-FKHR. Definition of alveolar has been complicated by changes in terminology and subjectivity...
  68. ncbi Proliferative and apoptotic differences between alveolar rhabdomyosarcoma subtypes: a comparative study of tumors containing PAX3-FKHR or PAX7-FKHR gene fusions
    M H Collins
    Department of Pathology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Med Pediatr Oncol 37:83-9. 2001
    ..The more common translocation fuses the PAX3 and FKHR genes; patients who have PAX3-FKHR-positive ARMS have reduced event-free survival compared to patients ..
  69. pmc Phosphorylation of serine 205 by the protein kinase CK2 persists on Pax3-FOXO1, but not Pax3, throughout early myogenic differentiation
    Kevin N Dietz
    Department of Genetics, Louisiana State University Health Sciences Center, 533 Bolivar Street, New Orleans, Louisiana 70112, USA
    Biochemistry 48:11786-95. 2009
    The myogenic transcription factor Pax3 plays an essential role in early skeletal muscle development and is a key component in alveolar rhabdomyosarcoma (ARMS), a childhood solid muscle tumor...
  70. ncbi PAX3-FKHR transformation increases 26 S proteasome-dependent degradation of p27Kip1, a potential role for elevated Skp2 expression
    Lei Zhang
    Center for Molecular Biology of Oral Diseases, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    J Biol Chem 278:27-36. 2003
    b>PAX3-FKHR is an oncogenic form of the developmental regulator Pax3 transcription factor. PAX3-FKHR results from a t(2,13) chromosomal translocation, a unique genetic marker of alveolar rhabdomyosarcoma...
  71. ncbi The cooperative transforming effects of PAX3-FKHR and IGF-II on mouse myoblasts
    W Wang
    Department of Biological Sciences, Manchester Metropolitan University, Manchester M1 5GD, UK
    Int J Oncol 27:1087-96. 2005
    Alveolar rhabdomyosarcoma (ARMS) cells express high levels of PAX3-FKHR and IGF-II...
  72. pmc Credentialing a preclinical mouse model of alveolar rhabdomyosarcoma
    Koichi Nishijo
    Greehey Children s Cancer Research Institute, University of Texas Health Science Center, San Antonio, Texas, USA
    Cancer Res 69:2902-11. 2009
    ..e., activation of Pax3:Fkhr fusion gene with either p53 or Cdkn2a inactivation...
  73. pmc Genome-wide identification of PAX3-FKHR binding sites in rhabdomyosarcoma reveals candidate target genes important for development and cancer
    Liang Cao
    Genetics Branch, Center for Cancer Research, National Cancer Institute, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Cancer Res 70:6497-508. 2010
    The PAX3-FKHR fusion protein is present in a majority of alveolar rhabdomyosarcomas associated with increased aggressiveness and poor prognosis...
  74. pmc Defining the cooperative genetic changes that temporally drive alveolar rhabdomyosarcoma
    Sarasija Naini
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Cancer Res 68:9583-8. 2008
    ..characteristically, reciprocal translocation of loci involving the PAX and FKHR genes, generating the PAX7-FKHR or PAX3-FKHR fusion proteins...
  75. pmc Glyceraldehyde-3-phosphate dehydrogenase is a surface-associated, fibronectin-binding protein of Trichomonas vaginalis
    A Lama
    School of Molecular Biosciences, Washington State University, Pullman, Washington 99164, USA
    Infect Immun 77:2703-11. 2009
    ..vaginalis organisms to immobilized FN was identified. The MAb (called ws1) recognized a 39-kDa protein and was used to screen a cDNA expression library of T. vaginalis...
  76. pmc Developing bones are differentially affected by compromised skeletal muscle formation
    Niamh C Nowlan
    Department of Zoology, School of Natural Sciences, Trinity College Dublin, Ireland
    Bone 46:1275-85. 2010
    ..mutant models in which the formation of skeletal muscle development is disrupted; Myf5(nlacZ/nlacZ):MyoD(-/-) and Pax3(Sp/Sp) (Splotch)...
  77. ncbi Cellobiose dehydrogenase from the fungi Phanerochaete chrysosporium and Humicola insolens. A flavohemoprotein from Humicola insolens contains 6-hydroxy-FAD as the dominant active cofactor
    K Igarashi
    Department of Biomaterials Sciences, School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo ku, Tokyo 113 8657, Japan
    J Biol Chem 274:3338-44. 1999
    ..chrysosporium CDH was acidic, whereas that of H. insolens CDH was neutral. The absorption spectra of the two CDHs showed them to be typical hemoproteins, but there was a small difference in the visible region...
  78. ncbi Pax3-expressing trigeminal placode cells can localize to trunk neural crest sites but are committed to a cutaneous sensory neuron fate
    Clare V H Baker
    Division of Biology, Beckman Institute, California Institute of Technology, Pasedena, CA 91125, USA
    Dev Biol 249:219-36. 2002
    ..b>Pax3 is the earliest known marker of opV placode ectoderm in the chick...
  79. ncbi Analysis of genetic events that modulate the oncogenic and growth suppressive activities of the PAX3-FKHR fusion oncoprotein
    Shujuan J Xia
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Lab Invest 87:318-25. 2007
    Alveolar rhabdomyosarcoma (ARMS) is associated with chromosomal translocations that generate PAX3-FKHR and PAX7-FKHR fusion oncoproteins...
  80. pmc The oncogenic fusion protein Pax3-FKHR has a greater post-translational stability relative to Pax3 during early myogenesis
    Patrick J Miller
    Department of Genetics, Louisiana State University Health Sciences Center, 533 Bolivar Street, New Orleans, LA 70112, USA
    Biochim Biophys Acta 1770:1450-8. 2007
    ..chromosomal translocation, which results in the fusion of two transcription factors important for myogenesis, Pax3 and FKHR (FOX01a). The effects of myogenic differentiation on the stability of FKHR have been well characterized...
  81. ncbi The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator
    J E Sublett
    Department of Experimental Oncology, St Jude Children s Research Hospital, Memphis, Tennessee 38101, USA
    Oncogene 11:545-52. 1995
    ..The PAX3/FKHR fusion gene, formed by a t(2;13)(q35;q14) in alveolar rhabdomyosarcoma, encodes a hybrid protein that contains ..
  82. pmc The hybrid PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma transforms fibroblasts in culture
    S Scheidler
    Scripps Research Institute, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 93:9805-9. 1996
    Pediatric alveolar rhabdomyosarcoma is characterized by a chromosomal translocation that fuses parts of the PAX3 and FKHR genes...
  83. pmc Glycogen synthase kinase 3 regulates PAX3-FKHR-mediated cell proliferation in human alveolar rhabdomyosarcoma cells
    Fu Yue Zeng
    Department of Chemical Biology and Therapeutics, St Jude Children s Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA
    Biochem Biophys Res Commun 391:1049-55. 2010
    ..Ectopic expression of fusion protein PAX3-FKHR in RD cells significantly increased their sensitivity to TWS119...
  84. doi p21 Downregulation is an important component of PAX3/FKHR oncogenicity and its reactivation by HDAC inhibitors enhances combination treatment
    R M Hecker
    Department of Oncology, University Children s Hospital Zurich, Zurich, Switzerland
    Oncogene 29:3942-52. 2010
    ..type is alveolar rhabdomyosarcoma (aRMS), which is characterized by a specific translocation creating the oncogenic PAX3/FKHR transcription factor, believed to be the molecular basis of the disease...
  85. pmc Strong immunostaining for myogenin in rhabdomyosarcoma is significantly associated with tumors of the alveolar subclass
    P Dias
    Department of Cell Biology, Imgenex Corporation, San Diego, California, USA
    Am J Pathol 156:399-408. 2000
    ..Six of seven alveolar rhabdomyosarcomas that strongly stained for myogenin were also positive for Pax3-7/Forkhead (FKHR) by polymerase chain reaction/reverse transcriptase-polymerase chain reaction...
  86. ncbi Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant
    S J Conway
    Division of Cell and Molecular Biology, Institute of Child Health, University of London, UK
    Development 124:505-14. 1997
    ..In this paper we demonstrate, using RT-PCR and in situ hybridisation, that Pax3 expression can serve as a marker of cardiac neural crest cells in the mouse embryo...
  87. ncbi The homeobox gene Msx1 is expressed in a subset of somites, and in muscle progenitor cells migrating into the forelimb
    D Houzelstein
    Laboratoire de Génétique Moléculaire de la Morphogenèse, CNRS URA 1947, Departement de Biologie Moleculaire, Institut Pasteur, 75724 Paris Cedex 15, France
    Development 126:2689-701. 1999
    ..Cells from this region will subsequently contribute to forelimb and intercostal muscles. Using Pax3 gene transcripts as a marker of limb muscle progenitor cells as they migrate from the somites, we have defined ..
  88. pmc Pax3:Fkhr interferes with embryonic Pax3 and Pax7 function: implications for alveolar rhabdomyosarcoma cell of origin
    Charles Keller
    Division of Pediatric Hematology Oncology, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
    Genes Dev 18:2608-13. 2004
    To investigate the role of the translocation-associated gene Pax3:Fkhr in alveolar rhabdomyosarcomas, we generated a Cre-mediated conditional knock-in of Pax3:Fkhr into the mouse Pax3 locus...
  89. ncbi Pax3 acts cell autonomously in the neural tube and somites by controlling cell surface properties
    A Mansouri
    Max Planck Institute for Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D 37077 Gottingen, Germany
    Development 128:1995-2005. 2001
    b>Pax3 is a member of the paired-box-containing transcription factors. It is expressed in the developing somites, dorsal spinal cord, mesencephalon and neural crest derivatives...
  90. ncbi Genomic gains and losses are similar in genetic and histologic subsets of rhabdomyosarcoma, whereas amplification predominates in embryonal with anaplasia and alveolar subtypes
    Julia A Bridge
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
    Genes Chromosomes Cancer 33:310-21. 2002
    In this investigation, we selected PAX3/FKHR and PAX7/FKHR fusion transcript-positive and -negative alveolar rhabdomyosarcomas (ARMSs) and embryonal rhabdomyosarcomas (ERMSs) with and without anaplastic features, to ascertain genomic ..
  91. ncbi Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor
    Wendy Roeb
    The Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, California, USA
    Cell Cycle 7:837-41. 2008
    ..of the pediatric muscle tumor, alveolar rhabdomyosarcoma, and produces the chimeric transcription factor, PAX3-FOXO1, that contains the DNA binding elements of PAX3 and the transcriptional activation domain of FOXO1...
  92. ncbi Establishing neuronal identity in vertebrate neurogenic placodes
    C V Baker
    Division of Biology, Beckman Institute 139 74, California Institute of Technology, Pasadena, California 91125, USA
    Development 127:3045-56. 2000
    ..In the chick embryo, the ophthalmic trigeminal (opV) placode expresses the paired homeodomain transcription factor Pax3 from very early stages, while the epibranchial placodes express Pax2...
  93. ncbi Pax3 inhibits myogenic differentiation of cultured myoblast cells
    J A Epstein
    Division of Cardiology, Brigham and Women s Hospital, Boston, Massachusetts, USA
    J Biol Chem 270:11719-22. 1995
    b>Pax3 is an evolutionarily conserved transcription factor expressed in the lateral dermomyotome, a region that gives rise to limb muscle progenitors...
  94. pmc Subcellular localization of the inducible Chlorella HUP1 monosaccharide-H+ symporter and cloning of a Co-induced galactose-H+ symporter
    R Stadler
    Lehrstuhl für Zellbiologie und Pflanzenphysiologie, Universitat Regensburg, Germany
    Plant Physiol 107:33-41. 1995
    ..Two other HUP genes are shown to be co-induced in Chlorella in response to D-Glc in the medium. The cloning of HUP2 and HUP3 cDNA and genomic sequences is described, both being very homologous to HUP1...
  95. ncbi Eya1 and Eya2 proteins are required for hypaxial somitic myogenesis in the mouse embryo
    Raphaelle Grifone
    département génétique et développement, Institut Cochin Paris, INSERM, U567, Paris, F 75014 France
    Dev Biol 302:602-16. 2007
    In mammals, Pax3, Six4, Six1 and Six5 genes are co-expressed with Eya1, Eya2 and Eya4 genes during mouse somitogenesis...
  96. pmc Catalytic properties and classification of cellobiose dehydrogenases from ascomycetes
    Wolfgang Harreither
    Department für Lebensmittelwissenschaften und technologie, Universität für Bodenkultur, Muthgasse 18 2, A 1190 Vienna, Austria
    Appl Environ Microbiol 77:1804-15. 2011
    ..and catalytic characteristics of the mature proteins and suggests a differentiation of ascomycete class II CDHs into two subclasses, namely, class IIA and class IIB, in addition to the recently introduced class III of ..
  97. pmc Integrated functions of Pax3 and Pax7 in the regulation of proliferation, cell size and myogenic differentiation
    Charlotte A Collins
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, United Kingdom
    PLoS ONE 4:e4475. 2009
    b>Pax3 and Pax7 are paired-box transcription factors with roles in developmental and adult regenerative myogenesis...
  98. ncbi Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation
    J H Asher
    Department of Zoology, Michigan State University, East Lansing, Michigan, 48824, USA
    Genomics 34:285-98. 1996
    Waardenburg syndrome type 1 is caused by mutations in PAX3. Over 50 human PAX3 mutations that lead to hearing, craniofacial, limb, and pigmentation anomalies have been identified...
  99. ncbi Exposure to immunization media messages among African American parents
    N Lashuay
    California Department of Health Services, Immunization Branch, Berkeley, California 94707, USA
    Prev Med 31:522-8. 2000
    ..In Spring 1997, the California Department of Health Services (CDHS) launched a statewide culturally sensitive and ethnically specific media campaign directed toward African Americans...
  100. pmc PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells
    N Tiffin
    Section of Paediatric Oncology, Institute of Cancer Research, Belmont, Sutton, Surrey SM2 5NG, UK
    Br J Cancer 89:327-32. 2003
    ..Tumours of the alveolar subtype frequently harbour one of two characteristic translocations that juxtapose PAX3 or PAX7, and the forkhead-related gene FKHR (FOXO1A)...

Research Grants65

  1. Mechanism of regulation for the oncogenic Pax3-FOXO1 in Alveolar Rhabdomyosarcoma
    ANDREW DURRELL HOLLENBACH; Fiscal Year: 2013
    ..characterized by a t(2;13) chromosomal translocation resulting in the fusion of two myogenic transcription factors, Pax3 and FOXO1...
  2. A Cis-regulatory Model for Neural Border Induction
    Daniel Meulemans Medeiros; Fiscal Year: 2013
    ..induce neural border formation by activating the expression of the 'neural border specifier'genes, Zic, Pax3/7, and tfap2...
  3. The Role of Ets1 in Melanocyte Development
    Lidia Kos; Fiscal Year: 2012
    ..Mutations in the transcription factors Pax3, Sox10, and Mitf result in hypopigmentation phenotypes in mice and humans...
  4. Pax genes in cardiac development
    ZACHARY PAUL NEEB; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Paired box 3 (Pax3) is a transcription factor that is vital for cardiac neural crest (NC) specification and morphogenesis...
  5. SEARCH FOR THE MOLECULAR CAUSES OF DIABETIC EMBRYOPATHY
    Mary R Loeken; Fiscal Year: 2013
    ..shown that, in a mouse model of diabetic pregnancy, excess glucose metabolism by the embryo inhibits expression of Pax3, a gene that encodes a transcription factor required for development of neuroepithelium and neural crest...
  6. Jean Pierre Saint-Jeannet; Fiscal Year: 2014
    ..2- Morpholino-mediated knockdown of the neural plate border specifiers Pax3 or Zic1 indicates that these factors are both independently required for NC formation...
  7. Lisa J Bain; Fiscal Year: 2014
    ..in the neural plate border specifier cells, which express transcription factors involved in myogenesis, such as Pax3, Pax7, Dlx5, Msx1, and Msx2, and are responsible for secreting factors that lead to the formation of the neural ..
  8. KELLY ELAINE JOHANSON; Fiscal Year: 2014
    ..The translocation encodes an oncogenic fusion protein Pax3-FOXO1, and the strong correlation between the presence of the translocation and increased mortality indicates that ..
  9. Therapeutic Targets in Alveolar Rhabdomyosarcoma
    Charles Keller; Fiscal Year: 2012
    ..In our studies PDGFR-A has been found to be a transcriptional target of Pax3:Fkhr, the translocation-mediated fusion gene found in the majority of alveolar rhabdomyosarcomas...
  10. Mary R Loeken; Fiscal Year: 2014
    ..In particular, expression of Pax3, which is required for neural tube and neural crest development, is significantly reduced in embryos of diabetic ..
  11. Jen Sheen; Fiscal Year: 2016
    ..activity, and interacts with two HXK1 Unconventional Partners (HUP1: a scaffolding protein interacting with HXK1, HUP2 and transcription factors (TFs);HUP2: an ATPase interacting with HXK1, HUP1 and other ATPases) in the nucleus to ..
  12. REGULATED TOXIN GENE THERAPY FOR RHABDOMYOSARCOMA
    TIMOTHY CRIPE; Fiscal Year: 2001
    ..therapy, contains a translocation between chromosomes 2 and 13 that encodes a chimeric transcription factor, PAX3-FKHR...
  13. Neural Crest Contributions to the Lower Urinary Tract
    E Michelle Southard-Smith; Fiscal Year: 2012
    ..Aim 3 will target temporal and tissue specific ablation of Pax3 to establish lineage requirements for this gene in directing NC progenitors as they populate the bladder...
  14. BASIS OF PAX3-FKHR ONCOGENESIS IN RHABDOMYOSARCOMA
    Chiayeng Wang; Fiscal Year: 2001
    DESCRIPTION: (Adapted from the abstract.) The long range goal of the proposed research is to understand the role of PAX3-FKHR in alveolar rhabdomyosarcoma (ARMS), a tumor of fetal skeletal origin that is most common in children...
  15. Conditional Mouse Model of Alveolar Rhabdomyosarcoma
    Charles Keller; Fiscal Year: 2006
    ..alteration, the translocation-mediated fusion of a developmentally regulated Pax transcription factor (either Pax3 or Pax7) to the Forkhead transcription factor, Fkhr...
  16. THE ONCOGENICITY OF WINGED HELIX PROTEINS
    Peter Vogt; Fiscal Year: 2003
    ..CWH2, a mutant form of the chicken homolog of mesenchyme forkhead protein, and the human fusion proteins PAX3-FKHR and PAX7-FKHR, the putative causes of alveolar rhabdomyosarcoma...
  17. MODULATION OF RHABDOMYOSARCOMA PHENOTYPE
    PHILIP POTTER; Fiscal Year: 1999
    ..The function of the hybrid pax3/ALV protein is unknown but it is thought to act as a transcription factor...
  18. Childhood Cancer Gene Program Project Grant
    James Downing; Fiscal Year: 2005
    ..Specifically, this program will examine the translocation-encoded fusion oncoprotein AML1-ETO and Pax3-FKHR and the ARF/Mdm2/p53 tumor suppressor pathway...
  19. Rita C R Perlingeiro; Fiscal Year: 2016
    ..We have developed an ES cell line in which expression of Pax3, the master regulator of the embryonic myogenic program, can be induced by doxycycline (dox)...
  20. Molecular Modeling of Pediatric Skeletal Muscle Tumors
    Corinne Mary Linardic; Fiscal Year: 2013
    ..High risk patients have a 5-year survival of 30%, and outcome is very poor for children whose tumors express the PAX3-FKHR fusion gene;when metastatic, their 5-year survival is <8%...
  21. NEURAL CREST DISORDERS IN SPINA BIFIDA PATIENTS
    Jeffrey Nye; Fiscal Year: 2001
    ..Two individuals from this group who have been examined so far revealed gene defects in the PAX3 gene and mild signs of Waardenburg syndrome type III...
  22. SP cells and downstream progenitors in human and mouse muscle
    Emanuela Gussoni; Fiscal Year: 2013
    ..the myogenic lineage, investigate if loss of BMPR1a+ expression in skeletal muscle progenitors expressing Myf5 or Pax3 will lead to muscle pathology, and determine in a mouse model whether muscle SP cells or BMPR1a+ progenitors are &..
  23. Pax3, Melanocyte Stem Cells and Melanoma
    Deborah Lang; Fiscal Year: 2013
    ..Recently, we have found that the transcription Pax3 is expressed by these uncommon melanocyte stem cells...
  24. Christoph Lepper; Fiscal Year: 2014
    ..We have initiated making a series of myogenic CE KI alleles at the Pax3, Myf5, MyoD, Mrf4, Myogenin (Mgn), and Myosin light chain 1f (Mlc1f) loci (Aim 1)...
  25. IRSG LABORATORY CORRELATIVE STUDIES
    FREDERIC BARR; Fiscal Year: 1999
    ..The distinction between the subtypes is strengthened by molecular studies that identified PAX3/PAX7-FKHR gene fusions in alveolar RMS and allelic loss of chromosomal region 11p15.5 in embryonal RMS...
  26. The CXCR4-SDF-1 Axis in Metastatic Rhabdomyosarcoma
    Mariusz Ratajczak; Fiscal Year: 2009
    ..Since in RMS cell lines the expression of CXCR4 correlates with alveolar RMS and expression of the PAX3-FKHR and PAX7-FKHR genes, we will investigate whether PAX genes directly regulate CXCR4 expression in RMS cells...
  27. Examining the Therapeutic Potential of iPS cells in Duchenne Muscular Dystrophy
    Rita C R Perlingeiro; Fiscal Year: 2010
    ..This is due to the scarcity of paraxial mesoderm within EBs. We have recently demonstrated that Pax3 enables the generation of myogenic progenitors from differentiating ES cells that are endowed with the capacity to ..
  28. Interaction Affecting Craniofacial Muscle Differentiatio
    Drew Noden; Fiscal Year: 2004
    ..g., my, about, myoD), of trunk or head muscle-specific markers (e.g., parc aboutcis, pax3; podl, barx2, Ibxl,en2), and at later stages of muscle-specific myosin heavy chains...
  29. Core Surveillance Model Program in California
    Robert Harrison; Fiscal Year: 2003
    The Occupational Health Branch (OHB) of the California Department of Health Services (CDHS) proposes to develop and implement a core state-based surveillance model program for the prevention of targeted workplace diseases, injuries and ..
  30. Thomas A Rando; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Pax3 is a key regulator of developmental and postnatal myogenesis...
  31. Calcineurin in Congenital Nephropathy
    Feng Chen; Fiscal Year: 2004
    ..We have generated a mouse strain with deletion of the CnB gene in a subset of Pax3 positive cells and their derivatives by Cre-mediated LoxP recombination...
  32. California Emerging Infections Program
    Arthur L Reingold; Fiscal Year: 2011
    In this proposal,theCaliforniaDepartmentof HealthServices(CDHS), the Universityof California,Berkeley Schoolof PublicHealth(UCBSPH), selectedlocalandcountyhealthdepartmentsa, ndotherpartners requestan additionafliveyears of ..
  33. Policy/Environmental Changes: Effects on Employee Health
    Dee Edington; Fiscal Year: 2006
    ..This research will be conducted within a state government department, the California Department of Health Services (CDHS)...
  34. CALCIUM HANDLING IN THE SPLOTCH (SP2H) MOUSE MUTANT
    Simon Conway; Fiscal Year: 2002
    ..This mutant is due to a defect in the Pax3 gene, a known DNA-binding homeodomain...
  35. DEAFNESS IN WS1: SEARCH FOR GENETIC MODIFIERS
    Arti Pandya; Fiscal Year: 2002
    ..region, the discovery of genetic heterogeneity in WS, and in the demonstration of mutational heterogeneity at the PAX3 locus...
  36. LABORATORY REPORTING FOR PESTICIDE ILLINESS SURVEILLANCE
    Rupali Das; Fiscal Year: 2001
    The Occupational Health Branch (OHB) of the California Department of Health Services (CDHS) proposes to develop a method for direct laboratory reporting of blood cholinesterase test results and to assess the efficacy of this system as a ..
  37. North-Central California-Center For AIDS Research
    Richard Pollard; Fiscal Year: 2003
    ..Davis and the Virology and Rickettsial Diagnostic Laboratory of the California Department of Health Services (VRDL/CDHS), and fill the gaps needed to develop a full CFAR...
  38. POSITIVE ACTING REGULATORS OF MYOGENESIS
    Barbara Wold; Fiscal Year: 2000
    ..The investigator has chosen to begin with Pax3. Its expression marks precursors of axial and limb myogenic cells over an extended period prior to the onset of ..
  39. GENETIC BASIS OF CONOTRUNCAL MALFORMATIONS
    NANCY SPINNER; Fiscal Year: 2003
    ..specific transcription factor, in the ontogeny of semilunar valve defects, and Project 5 will explore the role of Pax3 regulatory elements in control of the morphogenetic behavior of the cardiac neural crest...
  40. Transcriptional Regulation of Melanocyte Development
    FAITH STRICKLAND; Fiscal Year: 2004
    ..The specific aims of this proposal are to understand the function of the transcription factors Mitf and Pax3 in melanocyte development and to determine how the misexpression of a basic helix-loop-helix transcription factor ..
  41. REGULATION OF PAX3/PAX7 EXPRESSION IN RHABDOMYOSARCOMA
    FREDERIC BARR; Fiscal Year: 2001
    DESCRIPTION: (adapted from the investigator's abstract) PAX3 and PAX7 are closely related members of the paired box family of transcription factors...
  42. COG studies of gene amplification in rhabdomyosarcoma
    FREDERIC BARR; Fiscal Year: 2009
    ..abstract_text> ..
  43. IRSG STUDIES OF ALVEOLAR RHABDOMYOSARCOMA GENE FUSIONS
    FREDERIC BARR; Fiscal Year: 2005
    ..This cancer is associated with 2;13 and 1;13 chromosomal translocations that juxtapose the PAX3 and PAX7 loci with the FKHR locus to create chimeric genes encoding PAX3-FKHR or PAX7-FKHR fusion products...
  44. Cancer Molecular Pathology Training Program
    FREDERIC BARR; Fiscal Year: 2006
    ....
  45. Studies of the t(2;13) of alveolar rhabdomyosarcoma
    FREDERIC BARR; Fiscal Year: 2007
    ..These events juxtapose PAX3 or PAX7 with FKHR to create fusion genes encoding PAX3-FKHR or PAX7-FKHR fusion products...
  46. DEK EFFECTS ON GROWTH OF HEMATOPOIETIC CELLS
    Gerard Grosveld; Fiscal Year: 2002
    ..The investigators state that these studies will provide valuable insights into the normal functions of DEK and generate important information on how DEK-CAN contributes to leukemogenesis. ..
  47. Role of MN1-TEL and MN1 in Leukemogenesis
    Gerard C Grosveld; Fiscal Year: 2010
    ..These studies should also provide leads for the development of novel therapies for AML involving these transcription factors. ..
  48. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
    ..Dr. Baldwin has a long-term interest in human genetics and has cloned or mapped several deafness genes including Pax3 in WS1...
  49. Mechanisms of Nural Crest Cell Development
    Ching Pin Chang; Fiscal Year: 2010
    ..Aim #3: Define the molecular pathways affected by the absence of Pbx1. We will use standard molecular biology and embryology methods to study if Pax3 pathway is downstream of Pbx1 in cardiac development.
  50. 2005 NNFF Consortium for NF1, NF2 and Schwannomatosis
    Jonathan Epstein; Fiscal Year: 2005
    ....
  51. Comprehensive Protein Interaction Mapping in Mammals
    STEVEN PRUITT; Fiscal Year: 2004
    ..Based on the utility of similar protein interaction maps in model organisms, this work can be expected to provide an enormous wealth of insight into the function of mammalian cells. ..
  52. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  53. MOLECULAR ANALYSIS OF MYOTONIC DYSTROPHY
    SATYAKAM BHAGWATI; Fiscal Year: 2002
    ..This approach is designed to explore the function of these CTG/CUG repeat binding proteins and their possible role in the pathogenesis of DM. ..
  54. LBX2 AND UROGENITAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2002
    ....
  55. Selecting for novel Hedgehog signaling mutations
    STEPHEN DEVOTO; Fiscal Year: 2006
    ..In addition, these mutations will identify genes that are likely to play important roles in the development of human cancer. ..
  56. Cellular and Molecular Mechanisms Regulating Photoreceptor Morphology
    ABIGAIL JENSEN; Fiscal Year: 2008
    ..This raises the interesting question as to whether this phenomenon is causal or whether compromised or sick photoreceptors are unable to maintain their inner and outer segments. ..
  57. Development of a high throughput gene trap vetor
    STEVEN PRUITT; Fiscal Year: 2003
    ..The methodologies and reagents developed here will be fully sufficient to allow the rapid establishment of a random sequence tag insertion library of 100,000 or more events in which the location of each insertion sites is known. ..
  58. Satellite Cells and Skeletal Muscle Growth Dynamics
    Zipora Yablonka Reuveni; Fiscal Year: 2008
    ..The proposed investigation will contribute to a better understanding of satellite cell dynamics and muscle growth, and can prove important for muscle rehabilitation strategies during disease and aging. ..
  59. Regulation of Differentiation Gene Expression by MyoD
    Asoke K Mal; Fiscal Year: 2010
    ..It is our expectation that completion of these AIMS will lead to novel therapies for muscle-related diseases. ..
  60. GENETIC ANALYSIS OF PAX3 INDUCTION
    STEVEN PRUITT; Fiscal Year: 2003
    ..We have developed a unique set of reagents that make analysis of expression from the Pax3 gene in the mouse a particularly tractable system for understanding how DV and AP positional information is ..
  61. Molecular basis of vascular heterogenity and function
    Jonathan Epstein; Fiscal Year: 2008
    ..abstract_text> ..
  62. PAX3 REGULATION OF CARDIAC CONOTRUNCAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2008
    unreadable] DESCRIPTION (provided by applicant): This grant application focuses on the regulation and function of Pax3 in neural crest ceils...
  63. Mixed-Method Analysis of Depressed Japanese Women
    Denise Saint Arnault; Fiscal Year: 2008
    ..It will identify cultural patterns of help-seeking to facilitate program development; elucidate cultural adaptations for existing psychiatric tools; and refine symptom profiles to improve precision of mental health assessments. ..
  64. Trichomonas vaginalis: Molecular Analysis of Adherence
    JOHN ALDERETE; Fiscal Year: 2007
    ..abstract_text> ..