PAX3 Antibody

1. In this review, we will discuss the current knowledge regarding potential therapeutic targets that might contribute to indirect interference with PAX3-FOXO1 activity in alveolar rhabdomyosarcoma at the different molecular levels and extrapolate these findings to fusion transcription factors in general. PMID: 29146205
2. Results shows that GILT expression is required for downregulation of PAX-3 proteins in late stage human melanoma cells. GILT co-localizes with PAX-3 proteins regulating its expression through the autophagy and lysosomal degradation pathway in human melanoma cells. PMID: 28857256
3. Results demonstrate that serum level of miR-658 is significantly lower in the NM group than in the DM group. Meanwhile, the levels of PAX3 and MET are lower in the NM group than in the DM group too. Both overexpression and silence of miR-658 significantly up-regulate or down-regulate the levels of PAX3 and MET in gastric cell lines. PMID: 29630524
4. miR-362-3p/Pax3 axis regulates cell viability, migration and invasion of HTR8/SVneo cells under hypoxia. PMID: 29665647
5. In spinal cord tissue, lower PAX3 expression, higher p53 expression, and increased levels of cleaved caspase 3(17kD) and cleaved caspase 8 (18kD) were found in anencephaly cases but not in spina bifida cases when compared with controls. PMID: 28786179
6. PAX3 has a major regulatory role in the development, maintenance and progression of certain tumors, which may be related to its role in normal development. [review] PMID: 29730428
7. PAX3-FOXO1 fusion protein serves as a driver mutation to initiate a cascade of mRNA and miRNA changes that ultimately reprogram proliferating myoblasts to induce the formation of alveolar rhabdomyosarcoma PMID: 27588498
8. Cells harboring the fusion gene are selectively sensitive to small-molecule inhibition of protein targets induced by, or bound to, PAX3-FOXO1-occupied super enhancers. Furthermore, PAX3-FOXO1 recruits and requires the BET bromodomain protein BRD4 to function at super enhancers, resulting in a complete dependence on BRD4 and a significant susceptibility to BRD inhibition PMID: 28446439
9. The borders of this novel topologically associating domains (TADs)correspond to the original 5'- and 3'- borders of the PAX3 and FOXO1 TADs, respectively, suggesting that TAD organisation precedes the formation of regulatory long-range interactions. Our results demonstrate that, upon translocation, novel regulatory landscapes are formed allowing new intra-TAD interactions between the original loci involved PMID: 28615069
10. identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations PMID: 29287889
11. Transcriptional factor PAX3 (PAX3) exerted its tumor suppressor function by inhibiting the activity of major signaling pathways and enhancing expression and activity of transcription factor forkhead box O3 protein (FOXO3a). PMID: 27458157
12. These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family PMID: 29287868
13. Study identified a novel heterozygous mutation of the PAX3 gene causing dysfunction of PAX3 transcription in patients with Waardenburg syndrome type 1. These results indicated that the loss-of-function may be resulting from deletion of the transcription activation domain. PMID: 29158168
14. absence of PAX3 mutation in one patient WS1 highlights the fact that the clinical classification is sometimes insufficient to distinguish WS1 from other types WS hence the interest of sequencing the other WS genes in this patient PMID: 29224756
15. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. PMID: 28686331
16. The studies identify a P/CAF-PAX3-FOXO1 signalling node that promotes oncogenesis and may contribute to MyoD dysfunction in Alveolar rhabdomyosarcoma (ARMS). PMID: 27453350
17. PAK3 mutation has a role in intellectual disability and macrocephaly in monozygotic twins [family case report with two affected patients] PMID: 28126652
18. Pax3 regulates GFAP expression. PMID: 27432276
19. novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) identified which co-segregated with Waardenburg syndrome type I in Chinese family PMID: 26824486
20. FOXD3 is sufficient but not necessary to drive PAX3 expression in melanoma cells. PMID: 26252164
21. Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma PMID: 26071485
22. findings suggest a tumor suppressor role for APC/C(Cdh1) in melanocytes and that targeting PAX3 may be a strategy for treating melanoma. PMID: 26329581
23. PAX3 phosphorylation has a role in determing melanoma phenotypes by affecting proliferation, invasion, and transformation PMID: 24903325
24. All affected members of pedigree IR-WS-20 carried the mutation c.1024_1040 del AGCACGATTCCTTCCAA in exon 7 of PAX3, while none of the unaffected members and 50 of the ethnic matched controls tested had this deletion. PMID: 26279250
25. PAX3 differentially regulates various downstream target genes involved in cell proliferation in melanoma cells compared to melanocytes. PMID: 25880082
26. The results expand the spectrum of PAX3 mutations and may have implications for the genetic counseling of Waardenburg syndrome in Iran. PMID: 26275939
27. Report novel PAX3-NCOA1 gene fusions in biphenotypic sinonasal sarcomas with focal rhabdomyoblastic differentiation. PMID: 26371783
28. PAX3-FOXO1 may contribute to tumor formation. PMID: 25806826
29. mutation associated with single-side deafness PMID: 26512583
30. Data show that transcription factors PAX3 and FOXD3-mediated melanoma cell migration is dependent on promoting the expression of chemokine receptor CXCR4. PMID: 26205821
31. findings suggest that PAX3 WS mutants interfere with the normal functions of PAX3 in a dominant negative manner, which is important to the understanding of the pathogenesis of Waardenburg syndrome PMID: 26149688
32. discover a pathway where ETS1 advances melanoma through the expression of MET via PAX-dependent and -independent mechanisms PMID: 25531327
33. Results suggest that regional Pax3 expression not only marks a novel subset of High-grade Brainstem Glioma but also contributes to PDGF-B-induced brainstem gliomagenesis PMID: 25330836
34. Genome-wide association analyses identified four suggestive loci (PAX3, CCRN4L, PIGQ, and ADAM19)determinants of disease progression in Alzheimer's disease. PMID: 25114068
35. Indeed, more fusion genes were generated in fore limb myoblasts via a reciprocal t(1;3), which expressed correctly spliced Pax3-Foxo1 mRNA encoding Pax3-Foxo1 fusion protein PMID: 25659124
36. It is likely that Cx43 and Pax3 play critical roles in cell proliferation and differentiation during the processes of chorionic villi initiation/development and placental morphogenesis. PMID: 25227101
37. Human melanocytes migrated and formed reversible paired box 3 (PAX3) expressing cell clusters on three-dimensional Matrigel PMID: 25128984
38. miR-206-PAX3-MET signaling is critical to GC metastasis. PMID: 25653235
39. PLK1 interacted with and phosphorylated PAX3-FOXO1 at the novel site S503, leading to protein stabilization. PMID: 25398439
40. the PAX3-NCOA2 fusion gene has a dual role in the tumorigenesis of rhabdomyosarcoma PMID: 24213582
41. These data support a model in which Pax3 is a new marker of human brown adipocyte progenitors and a molecular mediator of their fate. PMID: 24302443
42. PAX3 and MITF are expressed in human melanoma cell lines, but function independently to enhance the survival of melanoma cells PMID: 21164369
43. In breast phyllodes tumors, Six1 and Pax3 expression is correlated with tumour grade, unfavourable clinicopathological parameters and poorer clinical outcome, suggesting that both proteins may play a role in malignant progression. PMID: 24438019
44. EZH2 is a key factor in the proliferation and survival of PAX3-FOXO1 alveolar RMS cells working, at least in part, by repressing FBXO32 PMID: 24213577
45. Recurrent PAX3-MAML3 fusion is associated with biphenotypic sinonasal sarcoma. PMID: 24859338
46. a chimeric fusion RNA, PAX3-FOXO1, associated with alveolar rhabdomyosarcoma, is also present in normal non-cancer cells and tissue; when constantly expressed, PAX3-FOXO1 interfered with muscle differentiation process which presumably contributes to tumorigenesis PMID: 24089019
47. PAX3 might contribute to oncogenic characteristics of neuroblastoma cells by regulating a variety of crucial signalling pathways. PMID: 24188742
48. Waardenburg syndrome types 1, 2 and 3 are associated with mutation of PAX3 (paired box 3)gene on chromosome 2q35. (review) PMID: 24379252
49. single-nucleotide polymorphisms in PAX3 are associated with nevus number. PMID: 23751107
50. JARID2 is a direct transcriptional target of the PAX3-FOXO1 fusion protein. PMID: 23435416

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HGNC: 8617

OMIM: 122880

KEGG: hsa:5077

STRING: 9606.ENSP00000375921

UniGene: Hs.42146