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1. |
TAT analysis of all trios revealed four SNPs in PAX3 showing significant excess maternal transmission Isolated cleft lip with or without cleft palate |
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2. |
The crystal structure of the human PAX3 homeodomain in complex with a palindromic DNA containing two inverted TAATC sequences at 1.95 A resolution, was determined. |
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PAX3-FKHR fusion transcripts were positive in 3/7 alveolar rhabdomyosarcoma patients, and were negative in embryonal rhabdomyosarcoma and Control tumors. |
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Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients. |
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an increase in the cellular level of UPF3X during myogenesis results in an increase in the efficiency of an alternative NMD pathway that, unlike classical nonsense-mediated mRNA decay, is largely insensitive to UPF2 down-regulation |
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Inhibition of PAX3 by TGF-beta modulates melanocyte viability. |
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7. |
PAX3-expressing melanomas may be less environmentally dependent and more genetically linked. |
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8. |
These results establish that altered localization and dynamics play a key role in PAX3 dysfunction and that loss of the underlying determinants represents the principal defect for a subset of Waardenburg mutations. |
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9. |
the transcriptional activity of PAX3/FKHR can be inhibited by the kinase inhibitor PKC412 |
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10. |
The PAX3-FKHR protein acts directly on the MYCN gene at the transcriptional level. PAX3-FKHR contributes to the expression of MYCN and in turn MYCN collaborates with PAX3-FKHR in tumorigenesis. |
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11. |
Observational study of gene-disease association. (HuGE Navigator) |
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12. |
PAX3 suppresses p53-dependent transcription from promoters of p53-responsive genes, notably BAX and HDM2-P2, and reduces p53 protein abundance by promoting its degradation. |
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13. |
developed a pathophysiologically relevant transcriptional profile of PAX3/FKHR and identified a critical target gene for aRMS development |
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14. |
These results suggest that PAX3-FKHR promotes malignant phenotypes such as proliferation, motility, and to suppress differentiation. |
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15. |
isolated and characterized muscle cells from transgenic mice expressing PAX3-FOXO1 under control of PAX3 promoter. Demonstrate that myoblasts are unable to complete myogenic differentiation because of an inability to up-regulate p57Kip2 transcription |
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16. |
Yeast two-hybrid screening using libraries prepared from mouse liver and embryo identified Them2 (thioesterase superfamily member 2) and the homeodomain transcription factor Pax3 (paired box gene 3), respectively, as PC-TP-interacting proteins. |
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17. |
An amplification event is required for the PAX7-FOXO1A chimeric transcript to reach a critical expression level. |
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18. |
Effects of PAX3 isoforms in melanocytes and their potential contribution in tumorigenesis in melanoma. |
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19. |
Detection of both partial and whole gene deletions of PAX3 increase mutation detection in Waardenburg syndrome. |
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20. |
Pax3/FKHR regulates a distinct but overlapping set of genes relative to Pax3 in tumor cells and the global set of Pax3 and Pax3/FKHR gene targets is cell-type specific. |
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21. |
expression of PAX3 is correlated with metastasis potential--REVIEW |
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22. |
The Re-expression of PAX3, consistently observed in cutaneous malignant melanoma (CMM) as compared to normal melanocytes, appears linked to progression of CMM. |
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23. |
PAX3 SNPs were not strong risk factors for human spina bifida |
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24. |
Results define roles for Rho GTPases and their effectors in mesenchymal-to-epithelial transition and identify proteins and signal transduction cascades regulated by Pax3. |
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25. |
A fusion of PAX3 and FOXO1A proteins was used in the diagnosis of a solid alveolar rhabdomyosarcoma. |
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26. |
Pax3 directly regulates Myf5 in the hypaxial somite and its derivatives in transgenic mouse embryos. |
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27. |
in the RD embryonal rhabdomyosarcoma cell line, PAX3-FKHR upregulates expression of the gene encoding the chemokine receptor CXCR4 |
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28. |
Mutation screening in PAX3 identified a 701T > C mutation which converted a highly conserved Leu to Pro. |
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29. |
In this work we show that PAX3-FKHR, which is a stronger transcriptional activator relative to PAX3, can lead to two apparently irreconcilable outcomes: transformation and terminal myogenic differentiation. |
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30. |
Significant differences in survival and clinical characteristics between PAX3-FKHR and PAX7-FKHR positive tumors were seen indicating their role in carcinogenesis. |
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31. |
Maternal diabetes inhibits expression of embryonic genes, most notably, Pax-3, which is required for neural tube closure. oxidative stress inhibits expression of Pax-3 providing a molecular basis for neural tube defects induced by diabetic pregnancy. |
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32. |
fuses with FKHR protein, and affects the transcriptional regulation of IGF-I receptor |
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33. |
A novel translocation t(2;2)(q35;p23), which generates a fusion protein composed of PAX3 and the NCOA1was identified in rhabdomyosarcoma. |
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34. |
PAX3-FKHR fusion protein plays a critical role in the pathogenesis of alveolar rhabdomyosarcomas by influencing the commitment and differentiation of the myogenic cell lineage. |
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35. |
PAX3-FKHR fusion gene of rhabdomyosarcoma cooperates with loss of p16INK4A to promote bypass of cellular senescence |
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PAX3-FKHR gene fusion is prognostic indicator for alveolar rhabdomyosarcoma. |
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37. |
PAX3 gene is associated with Waardenburg syndrome. |
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38. |
PAX3, PAX7 and their fusions with FKHR are each expressed in rhabdomyosarcoma tumors as a consistent mixture of functionally distinct isoforms |
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39. |
Pax3 represses transcription through a novel mechanism involving competition between corepressor KAP1 and the heterochromatin-binding protein HP1gamma |
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40. |
PAX3-FKHR could induce myogenin expression in undifferentiated myoblasts by a MyoD independent pathway, and that PAX3-FKHR is directly involved in myogenin expression in aRMS cells |
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41. |
PAX3 isoforms regulate distinct but overlapping sets of genes in melanocytes in vitro. |
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42. |
DNA methylation near the PAX3 transcription start site is found in embryonal rhabdomyosarcomas but not in most alveolar rhabdomyosarcomas or normal muscle. This methylation is inversely correlated with PAX3 gene expression. |