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
Products:     PAX3

Top Publications

  1. Barr F, Galili N, Holick J, Biegel J, Rovera G, Emanuel B. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993;3:113-7 pubmed
    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. Margue C, Bernasconi M, Barr F, Schafer B. Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR. Oncogene. 2000;19:2921-9 pubmed
    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. Bondurand N, Pingault V, Goerich D, Lemort N, Sock E, Le Caignec C, et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet. 2000;9:1907-17 pubmed
    ..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. Qin W, Shu A, Qian X, Gao J, Xing Q, Zhang J, et al. A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. Mol Vis. 2006;12:1001-8 pubmed
    ..Haplotype analysis placed the WS1 locus to a 45.74 cM region between D2S117 and D2S206, in close proximity to the PAX3 gene on chromosome 2q35...
  5. Smit D, Smith A, Parsons P, Muscat G, Sturm R. Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors. Eur J Biochem. 2000;267:6413-22 pubmed
  6. Tassabehji M, Newton V, Liu X, Brady A, Donnai D, Krajewska Walasek M, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet. 1995;4:2131-7 pubmed
    ..syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes...
  7. Milunsky J, Maher T, Ito M, Milunsky A. The value of MLPA in Waardenburg syndrome. Genet Test. 2007;11:179-82 pubmed
    ..Point mutations in PAX3 have been identified in more than 90% of affected individuals with WS Type 1/WS Type 3...
  8. Fredericks W, Galili N, Mukhopadhyay S, Rovera G, Bennicelli J, Barr F, et al. The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3. Mol Cell Biol. 1995;15:1522-35 pubmed
    ..on each chromosome involved in this translocation have been identified as the transcription factor-encoding genes PAX3 and FKHR...
  9. Underwood T, Amin J, Lillycrop K, Blaydes J. Dissection of the functional interaction between p53 and the embryonic proto-oncoprotein PAX3. FEBS Lett. 2007;581:5831-5 pubmed
    ..and cancer cells derived from human melanomas have identified a critical role for the transcription factor PAX3 in the suppression of p53 protein accumulation and p53-dependent apoptosis...

More Information

Publications70

  1. Marshall A, Picchione F, Geltink R, Grosveld G. PAX3-FOXO1 induces up-regulation of Noxa sensitizing alveolar rhabdomyosarcoma cells to apoptosis. Neoplasia. 2013;15:738-48 pubmed
    ..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 ..
  2. Dietz K, Miller P, Iyengar A, Loupe J, Hollenbach A. Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation. Int J Biochem Cell Biol. 2011;43:936-45 pubmed publisher
    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)...
  3. Bajard L, Relaix F, Lagha M, Rocancourt D, Daubas P, Buckingham M. A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb. Genes Dev. 2006;20:2450-64 pubmed
    ..Null mutations in Pax3, a key regulator of skeletal muscle formation, lead to cell death in this domain...
  4. Wang Q, Kumar S, Slevin M, Kumar P. Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro. Cancer Res. 2006;66:8574-80 pubmed
    Transcription factor PAX3 has seven isoforms of which PAX3c has been studied extensively whereas the functions of the other isoforms are less well known...
  5. Plummer R, Shea C, Nelson M, Powell S, Freeman D, Dan C, et al. PAX3 expression in primary melanomas and nevi. Mod Pathol. 2008;21:525-30 pubmed publisher
    ..The transcription factor PAX3 has a well-established role in the development of melanocytes during embryogenesis, and has recently been ..
  6. Barber T, Barber M, Cloutier T, Friedman T. PAX3 gene structure, alternative splicing and evolution. Gene. 1999;237:311-9 pubmed
    b>PAX3 is a member of the paired box family of transcription factors that function during embryogenesis and cancer epigenesis...
  7. Bendall A, Ding J, Hu G, Shen M, Abate Shen C. Msx1 antagonizes the myogenic activity of Pax3 in migrating limb muscle precursors. Development. 1999;126:4965-76 pubmed
    ..Here we show that in chicken embryos, expression of the Msx1 homeobox gene overlaps with Pax3 in migrating limb muscle precursors, which are committed myoblasts that do not express myogenic differentiation ..
  8. Tassabehji M, Read A, Newton V, Harris R, Balling R, Gruss P, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature. 1992;355:635-6 pubmed
    ..Thus mutations in the Pax genes are important causes of human developmental defects. ..
  9. Sumegi J, Streblow R, Frayer R, Dal Cin P, Rosenberg A, Meloni Ehrig A, et al. 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. Genes Chromosomes Cancer. 2010;49:224-36 pubmed publisher
    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...
  10. Wang Q, Kumar S, Mitsios N, Slevin M, Kumar P. Investigation of downstream target genes of PAX3c, PAX3e and PAX3g isoforms in melanocytes by microarray analysis. Int J Cancer. 2007;120:1223-31 pubmed
    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...
  11. Yang G, Li Y, Nishimura E, Xin H, Zhou A, Guo Y, et al. Inhibition of PAX3 by TGF-beta modulates melanocyte viability. Mol Cell. 2008;32:554-63 pubmed publisher
    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...
  12. Williamson D, Missiaglia E, de Reynies A, Pierron G, Thuille B, Palenzuela G, et al. Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J Clin Oncol. 2010;28:2151-8 pubmed publisher
  13. Tomescu O, Xia S, Strezlecki D, Bennicelli J, Ginsberg J, Pawel B, et al. Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression. Lab Invest. 2004;84:1060-70 pubmed
    In the pediatric cancer alveolar rhabdomyosarcoma (ARMS), the 2;13 chromosomal translocation juxtaposes the PAX3 and FKHR genes to generate a chimeric transcription factor...
  14. Parker C, Shawcross S, Li H, Wang Q, Herrington C, Kumar S, et al. Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin. Int J Cancer. 2004;108:314-20 pubmed
    ..We propose that these and the 2 new isoforms we have discovered may be important in oncogenesis and differential diagnosis of melanomas or SCLC. ..
  15. Sorensen P, Lynch J, Qualman S, Tirabosco R, Lim J, Maurer H, et al. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. J Clin Oncol. 2002;20:2672-9 pubmed
    ..Most ARMS patients express PAX3-FKHR or PAX7-FKHR gene fusions resulting from t(2;13) or t(1;13) translocations, respectively...
  16. Hoth C, Milunsky A, Lipsky N, Sheffer R, Clarren S, Baldwin C. 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). Am J Hum Genet. 1993;52:455-62 pubmed
    ..We have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I...
  17. Picchione F, Pritchard C, Lagutina I, Janke L, Grosveld G. IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Carcinogenesis. 2011;32:452-61 pubmed publisher
    ..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...
  18. Tassabehji M, Newton V, Leverton K, Turnbull K, Seemanova E, Kunze J, et al. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet. 1994;3:1069-74 pubmed
    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...
  19. Scuoppo C, Riess I, Schmitt Ney M, Allegra P, Forni P, Bersani F, et al. The oncogenic transcription factor PAX3-FKHR can convert fibroblasts into contractile myotubes. Exp Cell Res. 2007;313:2308-17 pubmed
    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...
  20. Zhang L, Wang C. Identification of a new class of PAX3-FKHR target promoters: a role of the Pax3 paired box DNA binding domain. Oncogene. 2007;26:1595-605 pubmed
    ..carries a unique t(2;13) chromosomal translocation resulting in the formation of a chimeric transcription factor PAX3-FKHR...
  21. Soejima H, Fujimoto M, Tsukamoto K, Matsumoto N, Yoshiura K, Fukushima Y, et al. Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. Hum Mutat. 1997;9:177-80 pubmed
  22. Xia S, Holder D, Pawel B, Zhang C, Barr F. High expression of the PAX3-FKHR oncoprotein is required to promote tumorigenesis of human myoblasts. Am J Pathol. 2009;175:2600-8 pubmed publisher
    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...
  23. Tassabehji M, Read A, Newton V, Patton M, Gruss P, Harris R, et al. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet. 1993;3:26-30 pubmed
    ..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...
  24. Lang D, Lu M, Huang L, Engleka K, Zhang M, Chu E, et al. Pax3 functions at a nodal point in melanocyte stem cell differentiation. Nature. 2005;433:884-7 pubmed
    ..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 ..
  25. Begum S, Emami N, Emani N, Cheung A, Wilkins O, Der S, et al. Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR. Oncogene. 2005;24:1860-72 pubmed
    The oncogenic fusion protein, Pax3/FKHR, is a more potent transcription factor relative to its normal counterpart, Pax3...
  26. Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, et al. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 2003;122A:42-5 pubmed
    ..syndrome (WS-I) is an auditory-pigmentary syndrome caused by heterozygous loss of function mutations in the PAX3 gene...
  27. Zhang Y, Wang C. Nephroblastoma overexpressed (NOV/CCN3) gene: a paired-domain-specific PAX3-FKHR transcription target that promotes survival and motility in alveolar rhabdomyosarcoma cells. Oncogene. 2011;30:3549-62 pubmed publisher
    ..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...
  28. Wachtel M, Dettling M, Koscielniak E, Stegmaier S, Treuner J, Simon Klingenstein K, et al. Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. Cancer Res. 2004;64:5539-45 pubmed
    ..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...
  29. Galili N, Davis R, Fredericks W, Mukhopadhyay S, Rauscher F, Emanuel B, et al. Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993;5:230-5 pubmed
    ..Polymerase chain reaction analysis demonstrates that a 5'PAX3-3' FKHR chimaeric transcript is expressed in all eight alveolar rhabdomyosarcomas investigated...
  30. Charytonowicz E, Matushansky I, Castillo Martin M, Hricik T, Cordon Cardo C, Ziman M. Alternate PAX3 and PAX7 C-terminal isoforms in myogenic differentiation and sarcomagenesis. Clin Transl Oncol. 2011;13:194-203 pubmed publisher
    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...
  31. Lang D, Epstein J. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet. 2003;12:937-45 pubmed
    ..One example is Waardenburg syndrome that can be caused by mutations in the PAX3, SOX10 or MITF genes...
  32. Ebauer M, Wachtel M, Niggli F, Schafer B. Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR. Oncogene. 2007;26:7267-81 pubmed
    ..for the aggressive childhood cancer alveolar rhabdomyosarcoma (aRMS), generates the chimeric transcription factor PAX3/FKHR with a well known oncogenic role...
  33. Amstutz R, Wachtel M, Troxler H, Kleinert P, Ebauer M, Haneke T, et al. Phosphorylation regulates transcriptional activity of PAX3/FKHR and reveals novel therapeutic possibilities. Cancer Res. 2008;68:3767-76 pubmed publisher
    ..aRMS), in which specific translocations lead to the formation of the chimeric transcription factor PAX3/FKHR...
  34. Farrer L, Grundfast K, Amos J, Arnos K, Asher J, Beighton P, et al. 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. Am J Hum Genet. 1992;50:902-13 pubmed
    ..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...
  35. Mercado G, Xia S, Zhang C, Ahn E, Gustafson D, Lae M, et al. Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant target. Genes Chromosomes Cancer. 2008;47:510-20 pubmed publisher
    ..ARMS is characterized by a frequent 2;13 chromosomal translocation that creates a PAX3-FKHR fusion transcription factor...
  36. Du S, Lawrence E, Strzelecki D, Rajput P, Xia S, Gottesman D, et al. Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma. Int J Cancer. 2005;115:85-92 pubmed
    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...
  37. Frascella E, Toffolatti L, Rosolen A. Normal and rearranged PAX3 expression in human rhabdomyosarcoma. Cancer Genet Cytogenet. 1998;102:104-9 pubmed
    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...
  38. Markova T, Megrelishvilli S, Shevtsov S, Shvarts E. [Clinical and molecular genetic investigation of Waardenburg syndrome type 1]. Vestn Otorinolaringol. 2003;:17-9 pubmed
    ..Heredity is essential in etiology of hypoacusis and deafness. Genes PAX3 and MITF were studied in patients with Vaardenburg syndrome in 14 unrelated families...
  39. Wang J, Li S, Xiao X, Wang P, Guo X, Zhang Q. PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. Mol Vis. 2010;16:1146-53 pubmed
    To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1)...
  40. Baldwin C, Hoth C, Amos J, da Silva E, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature. 1992;355:637-8 pubmed
    ..The mutation was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression...
  41. Linardic C, Naini S, Herndon J, Kesserwan C, Qualman S, Counter C. The PAX3-FKHR fusion gene of rhabdomyosarcoma cooperates with loss of p16INK4A to promote bypass of cellular senescence. Cancer Res. 2007;67:6691-9 pubmed
    ..ARMS is characterized by a chromosomal translocation generating the PAX3-FKHR fusion gene...
  42. Kikuchi K, Tsuchiya K, Otabe O, Gotoh T, Tamura S, Katsumi Y, et al. Effects of PAX3-FKHR on malignant phenotypes in alveolar rhabdomyosarcoma. Biochem Biophys Res Commun. 2008;365:568-74 pubmed
    The malignancy of alveolar rhabdomyosarcoma (ARMS) has been linked to expression of the PAX3-FKHR chimeric gene...
  43. Blake J, Ziman M. Pax3 transcripts in melanoblast development. Dev Growth Differ. 2005;47:627-35 pubmed
    The transcription factor encoded by PAX3 is among the first expressed in the embryo, with a key role in development of the melanocytic lineage...
  44. Shapiro D, Sublett J, Li B, Downing J, Naeve C. Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. Cancer Res. 1993;53:5108-12 pubmed
    ..This translocation is associated with a structural rearrangement of the gene encoding PAX3, a presumed transcriptional regulator expressed exclusively during embryogenesis...
  45. Tsukamoto K, Nakamura Y, Niikawa N. Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues. Hum Genet. 1994;93:270-4 pubmed
    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...
  46. Yamashita T, Vavladeli A, Pala A, Galan K, Crochet S, Petersen S, et al. Diverse Long-Range Axonal Projections of Excitatory Layer 2/3 Neurons in Mouse Barrel Cortex. Front Neuroanat. 2018;12:33 pubmed publisher
    ..projections of excitatory layer 2/3 neurons with cell bodies located in mouse primary somatosensory barrel cortex (wS1)...
  47. Trabelsi M, Nouira M, Maazoul F, Kraoua L, Meddeb R, Ouertani I, et al. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. Int J Pediatr Otorhinolaryngol. 2017;103:14-19 pubmed publisher
    ..Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous...
  48. Jiao S, Wu Z, Tan X, Sui Y, Wang L, You F. Characterization of pax3a and pax3b genes in artificially induced polyploid and gynogenetic olive flounder (Paralichthys olivaceus) during embryogenesis. Fish Physiol Biochem. 2017;43:385-395 pubmed publisher
    ..b>PAX3 plays crucial roles during embryonic myogenesis and neurogenesis...
  49. Rooper L, Huang S, Antonescu C, Westra W, Bishop J. Biphenotypic sinonasal sarcoma: an expanded immunoprofile including consistent nuclear ?-catenin positivity and absence of SOX10 expression. Hum Pathol. 2016;55:44-50 pubmed publisher
    ..This unique dual phenotype stems from recurrent rearrangements in PAX3, a transcription factor that promotes commitment along both lineages...
  50. Yang X, Zhang S, Zhang S, Wang H. Detection of PAX3/PAX7-FKHR fusion transcripts in rhabdomyosarcoma and other small round cell tumors by 1-step reverse transcriptase polymerase chain reaction: a novel tool for diagnosis and differentiation. Ann Diagn Pathol. 2012;16:107-11 pubmed publisher
    ..The role of PAX3/PAX7-FKHR fusion gene has been reported in ARMS but not in ERMS and SRCT...
  51. Macina R, Barr F, Galili N, Riethman H. Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma. Genomics. 1995;26:1-8 pubmed
    Mutations in the human PAX3 gene have previously been associated with two distinct diseases, Waardenburg syndrome and alveolar rhabdomyosarcoma. In this report we establish that the normal human PAX3 gene is encoded by 8 exons...
  52. Crose L, GALINDO K, Kephart J, Chen C, Fitamant J, Bardeesy N, et al. Alveolar rhabdomyosarcoma-associated PAX3-FOXO1 promotes tumorigenesis via Hippo pathway suppression. J Clin Invest. 2014;124:285-96 pubmed publisher
    ..an aggressive sarcoma of skeletal muscle characterized by expression of the paired box 3-forkhead box protein O1 (PAX3-FOXO1) fusion oncogene...
  53. Niu Z, Li J, Tang F, Sun J, Wang X, Jiang L, et al. Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I. Gene. 2018;642:362-366 pubmed publisher
    ..WS1 is due to loss-of-function mutations in paired box gene 3 (PAX3). Here, we identified a novel PAX3 mutation (c.808C>G, p...
  54. Hu Q, Yuan Y, Wang C. Structural and functional studies of FKHR-PAX3, a reciprocal fusion gene of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma. PLoS ONE. 2013;8:e68065 pubmed publisher
    ..tumors carry balanced t(2;13) chromosomal translocation that leads to the production of two novel fusion genes, PAX3-FKHR and FKHR-PAX3...
  55. Sommer A, Young Wee T, Frye T. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet. 1983;15:71-7 pubmed
    ..Common radiographic manifestations include small maxilla, absent or small nasal bones, and ulnar deviation of the hands. This is either an autosomal dominant or X-linked trait. ..
  56. Guo D, Guo J, Li X, Guan F. Differential effects of Pax3 on expression of polysialyltransferases STX and PST in TGF-?-treated normal murine mammary gland cells. Exp Biol Med (Maywood). 2017;242:177-183 pubmed publisher
    ..In the present study, we observed that transcription factor Pax3 upregulates STX expression, downregulates PST expression, and modulates upregulated expression of PSA, which ..
  57. Vicente García C, Villarejo Balcells B, Irastorza Azcárate I, Naranjo S, Acemel R, Tena J, et al. Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements. Genome Biol. 2017;18:106 pubmed publisher
    ..We show that interactions within the PAX3 and FOXO1 domains are restricted to their respective TADs in normal conditions, while in a patient-derived alveolar ..
  58. Barber T, Barber M, Tomescu O, Barr F, Ruben S, Friedman T. Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma. Genomics. 2002;79:278-84 pubmed
    b>PAX3 is a transcription factor important for neural, muscle, and facial development in vertebrates...
  59. Wissmüller S, Kosian T, Wolf M, Finzsch M, Wegner M. The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors. Nucleic Acids Res. 2006;34:1735-44 pubmed
    ..The HMG domain thus not only possesses DNA-binding and DNA-bending but also protein-interacting ability which may be equally important for the architectural function of Sox proteins on their target gene promoters. ..
  60. Jalilian N, Tabatabaiefar M, Bahrami T, Karbasi G, Bahramian M, Salimpoor A, et al. A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. Mol Syndromol. 2017;8:195-200 pubmed publisher
    ..WS is subdivided into 4 major types (WS1-4), where WS2 is characterized by the absence of dystopia canthorum...
  61. Hong C, Saint Jeannet J. Znf703, a novel target of Pax3 and Zic1, regulates hindbrain and neural crest development in Xenopus. Genesis. 2017;55: pubmed publisher
    The transcription factors Pax3 and Zic1 are critical to specify the neural plate border and to promote neural crest formation...