Property Summary

NCBI Gene PubMed Count 184
PubMed Score 657.11
PubTator Score 414.82

Knowledge Summary

Patent

No data available

Expression

 GO Component (1)

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (123)

PMID Text
26512583 mutation associated with single-side deafness
26371783 Report novel PAX3-NCOA1 gene fusions in biphenotypic sinonasal sarcomas with focal rhabdomyoblastic differentiation.
26329581 findings suggest a tumor suppressor role for APC/C(Cdh1) in melanocytes and that targeting PAX3 may be a strategy for treating melanoma.
26279250 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.
26275939 The results expand the spectrum of PAX3 mutations and may have implications for the genetic counseling of Waardenburg syndrome in Iran.
26252164 FOXD3 is sufficient but not necessary to drive PAX3 expression in melanoma cells.
26205821 Data show that transcription factors PAX3 and FOXD3-mediated melanoma cell migration is dependent on promoting the expression of chemokine receptor CXCR4.
26149688 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
26071485 Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma
25880082 PAX3 differentially regulates various downstream target genes involved in cell proliferation in melanoma cells compared to melanocytes.
25806826 PAX3-FOXO1 may contribute to tumor formation.
25659124 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
25653235 miR-206-PAX3-MET signaling is critical to GC metastasis.
25531327 discover a pathway where ETS1 advances melanoma through the expression of MET via PAX-dependent and -independent mechanisms
25398439 PLK1 interacted with and phosphorylated PAX3-FOXO1 at the novel site S503, leading to protein stabilization.
25330836 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
25227101 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.
25128984 Human melanocytes migrated and formed reversible paired box 3 (PAX3) expressing cell clusters on three-dimensional Matrigel
25114068 Genome-wide association analyses identified four suggestive loci (PAX3, CCRN4L, PIGQ, and ADAM19)determinants of disease progression in Alzheimer's disease.
24903325 PAX3 phosphorylation has a role in determing melanoma phenotypes by affecting proliferation, invasion, and transformation
24859338 Recurrent PAX3-MAML3 fusion is associated with biphenotypic sinonasal sarcoma.
24438019 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.
24379252 Waardenburg syndrome types 1, 2 and 3 are associated with mutation of PAX3 (paired box 3)gene on chromosome 2q35. (review)
24334454 A novel mechanism used by PAX3-FOXO1 to inhibit MST1 signaling and promote tumorigenesis in alveolar rhabdomyosarcoma.
24302443 These data support a model in which Pax3 is a new marker of human brown adipocyte progenitors and a molecular mediator of their fate.
24213582 the PAX3-NCOA2 fusion gene has a dual role in the tumorigenesis of rhabdomyosarcoma
24213577 EZH2 is a key factor in the proliferation and survival of PAX3-FOXO1 alveolar RMS cells working, at least in part, by repressing FBXO32
24188742 PAX3 might contribute to oncogenic characteristics of neuroblastoma cells by regulating a variety of crucial signalling pathways.
24089019 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
23970178 Our studies reveal the dual roles of Pax3 in stem cell fate determinations and provide new molecular insights into small molecule-enhanced lineage specification.
23913553 Common variants of PAX3 and T are associated with spina bifida.
23814486 PAX3-FOXO1 induces up-regulation of Noxa sensitizing alveolar rhabdomyosarcoma cells to apoptosis
23799156 The FKHR-PAX3 gene fusion might have a critical role in the early stage of alveolar rhabdomyosarcoma development
23751107 single-nucleotide polymorphisms in PAX3 are associated with nevus number.
23733015 HEY1 was significantly downregulated in independent PAX3-FOXO1-positive ARMS tumors.
23701726 results indicate that PAX3 in glioma is essential for gliomagenesis
23469153 Cdk4 phosphorylates and positively regulates PAX3-FOXO1
23435416 JARID2 is a direct transcriptional target of the PAX3-FOXO1 fusion protein.
23378733 study identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity
23274166 CD105 expression is down-regulated by PAX3 silencing in tumor cells. PAX3 might be essential for tumor development through CD105 and TGF-beta1 signaling pathways.
23163891 PAX3 genetic analysis increased the diagnostic accuracy for Waardenburg syndrome type 1.
23079386 PAX3/7-FKHR gene fusions expression was detected in 56% of ARMS tumor samples.
23020925 The identification of TBX2 as a target for PAX3 provides a key insight into how PAX3 may contribute to melanoma evolution.
22988297 PI3K has a crucial role in regulating Brn-2 and Pax3 expression and neoplasm invasiveness, and it is a key determinant of melanoma subpopulation diversity.
22679108 GSK-3 regulates proliferation and morphology of melanoma through phosphorylation and increased levels of PAX3 that directly interacted with a number of GSK-3b residues
22454413 PAX3 fusion gene status is a specific prognostic molecular marker in patient diagnosed with rhabdomyosarcoma.
22341974 The association between rs7559271 in PAX3 and the nasion to midendocanthion distance (n-men), was replicated (p = 4 x 10(-7)).
22330340 Downregulation of miR-1, -206 and -29 stabilizes the expression of PAX3 and CCND2 in both embryonal and alveolar rhabdomyosarcoma.
22320238 report of a rare Waardenburg syndrome simplex family in which a pair of WS parents gave birth to a child with double heterozygous mutations of MITF and PAX3; compared to his parents who carried a single mutation in either MITF or PAX3, the child showed increased penetrance of pigmentary defects
22231626 PAX3 is an intrinsic regulator of progression in human glioma cells and may serve as a prognostic factor for this dismal disease.
22197543 Detection of PAX3/PAX7-FKHR fusion transcripts is a novel tool for Rhabdomyosarcoma diagnosis
22089931 The presence of PAX3/7-FOXO1 translocation was significantly associated with a higher frequency of metastatic disease.
21997191 a novel pathway in the melanocyte lineage, linking FGF2-STAT3 signaling to increased PAX3 transcription.
21965087 We analyzed the subcellular distribution, expression and in vitro activity of two PAX3 mutations (p.H80D, p.H186fsX5) and four SOX10 mutations (p.E248fsX30, p.G37fsX58, p.G38fsX69 and p.R43X).
21802410 These results suggest that by controlling cell proliferation, survival and migration as well as maintaining a less differentiated "stem" cell like phenotype, PAX3 may contribute to melanoma development and progression.
21440083 changing pattern of phosphorylation at serines 201, 205, and 209 throughout early myogenic differentiation
21423212 Data show reduced CCN3 levels in aRMS cells following small interfering RNA knockdown of PAX3-FKHR.
21421465 results suggest that both Pax3 and Pax7 transcripts are required for commitment of cells to the myogenic lineage, with each transcript having a distinct role
21177767 Expression of full length IRIZIO cDNA also cooperated with PAX3-FOXO1 in the transformation of Arf-/- myoblasts. Given that IRIZIO is expressed at increased levels in rhabdomyosarcoma, it might contribute to rhabdomyosarcomagenesis in humans.
21164369 PAX3 and MITF are expressed in human melanoma cell lines, but function independently to enhance the survival of melanoma cells
21135695 Molecular upstaging of PAX3 using rt-pcr was correlated with prognosis in melanoma patients
20801516 Observational study of genetic testing. (HuGE Navigator)
20664692 These findings expand the frequency and spectrum of PAX3 mutations and ethnic-related phenotypes in Chinese patients with Waardenburg syndrome type 1.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20605921 Pax3 induces differentiation of juvenile skeletal muscle stem cells without transcriptional upregulation of canonical myogenic regulatory factors.
20569257 Data present two PPDII families with fully penetrant point mutations in ultra-conserved predicted binding sites for transcription factors SOX9 and PAX3, two possible candidates for regulating SHH expression.
20478267 Seven new mutations in PAX3, MITF, and SOX10 genes in 11 families with type I or type II Waardenburg syndrome were identified.
20421967 proteins co-expressed with PAX3 in normal skin melanocytes and melanocytic lesions (naevi and melanomas) suggest roles for PAX3 in each cell type
20351326 The clinical behavior and molecular characteristics of alveolar rhabdomyosarcoma without a PAX/FOXO1 fusion gene are indistinguishable from embryonal cases and significantly different from fusion-positive alveolar cases.
20067553 The PAX3 plays an active role in melanoma cells by regulating the MET gene.
20032463 Results not only show that HDAC10 regulates melanogenesis but also demonstrate that the transcriptional activities of Pax3 and KAP1 are intimately linked to their acetylation status.
19953635 Studies expand knowledge of PAX3 variant translocations in rhabdomyossarcoma with identification of a novel PAX3-NCOA2 fusion.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19893043 high PAX3-FKHR expression plays a crucial role in regulating myoblast proliferation, transformation, and differentiation
19726320 nNOS, Pax3 and Cx43 proteins are closely related to the growth and development of the spinal cord in human embryos and fetuses.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19320733 Observational study of gene-disease association. (HuGE Navigator)
19199574 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.
19142206 TAT analysis of all trios revealed four SNPs in PAX3 showing significant excess maternal transmission Isolated cleft lip with or without cleft palate
19142206 Observational study of gene-disease association. (HuGE Navigator)
19095803 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
19026785 Inhibition of PAX3 by TGF-beta modulates melanocyte viability.
18988640 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.
18788887 there is ALK overexpression in rhabdomyosarcomas, most likely independent of PAX3/PAX7-FKHR fusion status
18666806 Loss of WT1 permits aberrant PAX3 expression in a subset of Wilms tumors with myogenic phenotype.
18483260 the transcriptional activity of PAX3/FKHR can be inhibited by the kinase inhibitor PKC412
18335505 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.
18327212 PAX3-expressing melanomas may be less environmentally dependent and more genetically linked.
18325909 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.
18053811 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.
18022385 These results suggest that PAX3-FKHR promotes malignant phenotypes such as proliferation, motility, and to suppress differentiation.
17986608 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
17954266 An amplification event is required for the PAX7-FOXO1A chimeric transcript to reach a critical expression level.
17704541 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.
17638879 PAX3-FKHR fusion gene of rhabdomyosarcoma cooperates with loss of p16INK4A to promote bypass of cellular senescence
17627390 Detection of both partial and whole gene deletions of PAX3 increase mutation detection in Waardenburg syndrome.
17613043 Significant differences in survival and clinical characteristics between PAX3-FKHR and PAX7-FKHR positive tumors were seen indicating their role in carcinogenesis.
17525748 developed a pathophysiologically relevant transcriptional profile of PAX3/FKHR and identified a critical target gene for aRMS development
17490646 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.
17285543 PAX3-FKHR fusion transcripts were positive in 3/7 alveolar rhabdomyosarcoma patients, and were negative in embryonal rhabdomyosarcoma and Control tumors.
17187370 PAX3 isoforms regulate distinct but overlapping sets of genes in melanocytes in vitro.
17149730 Observational study of gene-disease association. (HuGE Navigator)
17149730 PAX3 SNPs were not strong risk factors for human spina bifida
16971891 Mutation screening in PAX3 identified a 701T > C mutation which converted a highly conserved Leu to Pro.
16964289 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
16952014 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.
16951257 Pax3 directly regulates Myf5 in the hypaxial somite and its derivatives in transgenic mouse embryos.
16951170 Effects of PAX3 isoforms in melanocytes and their potential contribution in tumorigenesis in melanoma.
16945326 Pax3 represses transcription through a novel mechanism involving competition between corepressor KAP1 and the heterochromatin-binding protein HP1gamma
16442263 Results define roles for Rho GTPases and their effectors in mesenchymal-to-epithelial transition and identify proteins and signal transduction cascades regulated by Pax3.
16316407 The Re-expression of PAX3, consistently observed in cutaneous malignant melanoma (CMM) as compared to normal melanocytes, appears linked to progression of CMM.
15688409 PAX3, PAX7 and their fusions with FKHR are each expressed in rhabdomyosarcoma tumors as a consistent mixture of functionally distinct isoforms
15688035 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.
15602708 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.
15313887 A novel translocation t(2;2)(q35;p23), which generates a fusion protein composed of PAX3 and the NCOA1was identified in rhabdomyosarcoma.
15184910 in the RD embryonal rhabdomyosarcoma cell line, PAX3-FKHR upregulates expression of the gene encoding the chemokine receptor CXCR4
15140004 A fusion of PAX3 and FOXO1A proteins was used in the diagnosis of a solid alveolar rhabdomyosarcoma.
12739027 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.
12666593 PAX3 gene is associated with Waardenburg syndrome.
12647804 expression of PAX3 is correlated with metastasis potential--REVIEW
12039929 PAX3-FKHR gene fusion is prognostic indicator for alveolar rhabdomyosarcoma.
11735247 fuses with FKHR protein, and affects the transcriptional regulation of IGF-I receptor

AA Sequence

MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPC      1 - 70
VISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEEYKRENPGMFSWEIRDKLLKD     71 - 140
AVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEESEKKAKHSIDGILSERASAPQSDEGSDIDSE    141 - 210
PDLPLKRKQRRSRTTFTAEQLEELERAFERTHYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGA    211 - 280
NQLMAFNHLIPGGFPPTAMPTLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDS    281 - 350
SSAYCLPSTRHGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLE    351 - 420
PTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF               421 - 479
//

Text Mined References (187)

PMID Year Title
26512583 2015 Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.
26371783 2016 Novel PAX3-NCOA1 Fusions in Biphenotypic Sinonasal Sarcoma With Focal Rhabdomyoblastic Differentiation.
26329581 2015 The E3 ligase APC/C(Cdh1) promotes ubiquitylation-mediated proteolysis of PAX3 to suppress melanocyte proliferation and melanoma growth.
26279250 2015 A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
26275939 2015 Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
26252164 2016 FOXD3 Promotes PAX3 Expression in Melanoma Cells.
26205821 2015 PAX3 and FOXD3 Promote CXCR4 Expression in Melanoma.
26149688 2015 Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.
26071485 2015 Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma.
25880082 2015 Mechanisms contributing to differential regulation of PAX3 downstream target genes in normal human epidermal melanocytes versus melanoma cells.
25806826 2015 The PAX3-FOXO1 fusion protein present in rhabdomyosarcoma interferes with normal FOXO activity and the TGF-? pathway.
25659124 2015 Modeling of the human alveolar rhabdomyosarcoma Pax3-Foxo1 chromosome translocation in mouse myoblasts using CRISPR-Cas9 nuclease.
25653235 2015 Activation of PAX3-MET pathways due to miR-206 loss promotes gastric cancer metastasis.
25531327 2015 PAX3 and ETS1 synergistically activate MET expression in melanoma cells.
25398439 2015 PLK1 phosphorylates PAX3-FOXO1, the inhibition of which triggers regression of alveolar Rhabdomyosarcoma.
25330836 2014 Pax3 expression enhances PDGF-B-induced brainstem gliomagenesis and characterizes a subset of brainstem glioma.
25227101 2014 Expression of Cx43 and Pax3 proteins in the human placental villi and decidua during early pregnancy.
25208829 2014 Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
25128984 2014 Human melanocytes form a PAX3-expressing melanocyte cluster on Matrigel by the cell migration process.
25114068 2015 Genetic determinants of disease progression in Alzheimer's disease.
24903325 2014 Phosphorylation of PAX3 contributes to melanoma phenotypes by affecting proliferation, invasion, and transformation.
24859338 2014 Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.
24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
24438019 2014 Immunohistochemical expression of homeoproteins Six1 and Pax3 in breast phyllodes tumours correlates with histological grade and clinical outcome.
24379252 2013 [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
24334454 2014 Alveolar rhabdomyosarcoma-associated PAX3-FOXO1 promotes tumorigenesis via Hippo pathway suppression.
24302443 2014 Differentiation of human induced pluripotent stem cells into brown and white adipocytes: role of Pax3.
24213582 2014 PAX3-NCOA2 fusion gene has a dual role in promoting the proliferation and inhibiting the myogenic differentiation of rhabdomyosarcoma cells.
24213577 2014 The Polycomb group (PcG) protein EZH2 supports the survival of PAX3-FOXO1 alveolar rhabdomyosarcoma by repressing FBXO32 (Atrogin1/MAFbx).
24188742 2014 PAX3 in neuroblastoma: oncogenic potential, chemosensitivity and signalling pathways.
24089019 2013 A chimeric RNA characteristic of rhabdomyosarcoma in normal myogenesis process.
23970178 2013 Induction of Pax3 gene expression impedes cardiac differentiation.
23913553 2013 Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.
23814486 2013 PAX3-FOXO1 induces up-regulation of Noxa sensitizing alveolar rhabdomyosarcoma cells to apoptosis.
23799156 2013 Structural and functional studies of FKHR-PAX3, a reciprocal fusion gene of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma.
23751107 2013 Evaluation of PAX3 genetic variants and nevus number.
23733015 2013 Identification of target genes of PAX3-FOXO1 in alveolar rhabdomyosarcoma.
23701726 2013 PAX3 is overexpressed in human glioblastomas and critically regulates the tumorigenicity of glioma cells.
23469153 2013 Cyclin-dependent kinase 4 phosphorylates and positively regulates PAX3-FOXO1 in human alveolar rhabdomyosarcoma cells.
23435416 2014 JARID2 is a direct target of the PAX3-FOXO1 fusion protein and inhibits myogenic differentiation of rhabdomyosarcoma cells.
23378733 2013 A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
23274166 2013 PAX3 promotes tumor progression via CD105 signaling.
23163891 2013 Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.
23079386 2012 Investigation of PAX3/7-FKHR fusion genes and IGF2 gene expression in rhabdomyosarcoma tumors.
23020925 2013 TBX2 expression is regulated by PAX3 in the melanocyte lineage.
22988297 2012 A phosphatidylinositol 3-kinase-Pax3 axis regulates Brn-2 expression in melanoma.
22679108 2012 GSK-3 promotes cell survival, growth, and PAX3 levels in human melanoma cells.
22454413 2012 PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification.
22341974 2012 Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.
22330340 2012 Downregulation of microRNAs miR-1, -206 and -29 stabilizes PAX3 and CCND2 expression in rhabdomyosarcoma.
22320238 2013 Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
22231626 2012 Clinical significance and prognostic value of PAX3 expression in human glioma.
22197543 2012 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.
22089931 2012 PAX3/7-FOXO1 fusion status in older rhabdomyosarcoma patient population by fluorescent in situ hybridization.
21997191 2012 FGF2 regulates melanocytes viability through the STAT3-transactivated PAX3 transcription.
21965087 2012 Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
21802410 2011 Differential PAX3 functions in normal skin melanocytes and melanoma cells.
21440083 2011 Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation.
21423212 2011 Nephroblastoma overexpressed (NOV/CCN3) gene: a paired-domain-specific PAX3-FKHR transcription target that promotes survival and motility in alveolar rhabdomyosarcoma cells.
21421465 2011 Alternate PAX3 and PAX7 C-terminal isoforms in myogenic differentiation and sarcomagenesis.
21177767 2011 IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS).
21164369 2011 PAX3 knockdown in metastatic melanoma cell lines does not reduce MITF expression.
21135695 2011 Molecular upstaging based on paraffin-embedded sentinel lymph nodes: ten-year follow-up confirms prognostic utility in melanoma patients.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20664692 2010 PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20605921 2010 Pax3 induces differentiation of juvenile skeletal muscle stem cells without transcriptional upregulation of canonical myogenic regulatory factors.
20569257 2011 Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.
20478267 2010 Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
20421967 2010 PAX3 expression in normal skin melanocytes and melanocytic lesions (naevi and melanomas).
20351326 2010 Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma.
20067553 2010 PAX3 and SOX10 activate MET receptor expression in melanoma.
20032463 2010 Histone deacetylase 10 relieves repression on the melanogenic program by maintaining the deacetylation status of repressors.
19953635 2010 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.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19893043 2009 High expression of the PAX3-FKHR oncoprotein is required to promote tumorigenesis of human myoblasts.
19726320 2009 [Expression of nNOS, Pax3 and Cx43 proteins in early developing posterior horn of embryonic and fetal human spinal cord].
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19320733 2009 Pigmentation-related genes and their implication in malignant melanoma susceptibility.
19199574 2009 Structural basis for DNA recognition by the human PAX3 homeodomain.
19142206 2009 Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
19095803 2009 SMD and NMD are competitive pathways that contribute to myogenesis: effects on PAX3 and myogenin mRNAs.
19026785 2008 Inhibition of PAX3 by TGF-beta modulates melanocyte viability.
18988640 2009 PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.
18788887 ALK expression in rhabdomyosarcomas: correlation with histologic subtype and fusion status.
18666806 PAX3 is expressed in the stromal compartment of the developing kidney and in Wilms tumors with myogenic phenotype.
18483260 2008 Phosphorylation regulates transcriptional activity of PAX3/FKHR and reveals novel therapeutic possibilities.
18335505 2008 Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant target.
18327212 2008 PAX3 expression in primary melanomas and nevi.
18325909 2008 Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
18053811 2007 Dissection of the functional interaction between p53 and the embryonic proto-oncoprotein PAX3.
18022385 2008 Effects of PAX3-FKHR on malignant phenotypes in alveolar rhabdomyosarcoma.
17986608 2007 PAX3-FOXO1 controls expression of the p57Kip2 cell-cycle regulator through degradation of EGR1.
17954266 2007 Comparison of the proximal promoter regions of the PAX3 and PAX7 genes.
17704541 2007 Interacting proteins dictate function of the minimal START domain phosphatidylcholine transfer protein/StarD2.
17638879 2007 The PAX3-FKHR fusion gene of rhabdomyosarcoma cooperates with loss of p16INK4A to promote bypass of cellular senescence.
17627390 2007 The value of MLPA in Waardenburg syndrome.
17613043 Pax3-fkhr and pax7-fkhr fusion genes impact outcome of alveolar rhabdomyosarcoma in children.
17525748 2007 Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR.
17490646 2007 The oncogenic transcription factor PAX3-FKHR can convert fibroblasts into contractile myotubes.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17285543 2007 [Expression of fusion gene PAX3/PAX7-FKHR and chromosomal aberration in rhabdomyosarcoma].
17187370 2007 Investigation of downstream target genes of PAX3c, PAX3e and PAX3g isoforms in melanocytes by microarray analysis.
17149730 2007 Screening for novel PAX3 polymorphisms and risks of spina bifida.
16971891 2006 A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.
16964289 2007 Identification of a new class of PAX3-FKHR target promoters: a role of the Pax3 paired box DNA binding domain.
16952014 2006 Transgenic mice expressing PAX3-FKHR have multiple defects in muscle development, including ectopic skeletal myogenesis in the developing neural tube.
16951257 2006 A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb.
16951170 2006 Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro.
16945326 2006 Transcriptional repression activity of PAX3 is modulated by competition between corepressor KAP1 and heterochromatin protein 1.
16582099 2006 The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors.
16442263 2006 Essential requirement for Rho family GTPase signaling in Pax3 induced mesenchymal-epithelial transition.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16316407 2005 Pax3 transcripts in melanoblast development.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15688409 2005 Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma.
15688035 2005 Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR.
15602708 2005 Upstream CpG island methylation of the PAX3 gene in human rhabdomyosarcomas.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15313887 2004 Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.
15184910 2004 Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression.
15143176 2004 Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13.
15140004 2004 Solid alveolar rhabdomyosarcoma originating from the urinary bladder in an adult. Diagnostic value of molecular genetics.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14639621 2004 Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin.
12949970 2003 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
12739027 2003 Oxidant regulation of gene expression and neural tube development: Insights gained from diabetic pregnancy on molecular causes of neural tube defects.
12668617 2003 Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.
12666593 2003 [Clinical and molecular genetic investigation of Waardenburg syndrome type 1].
12647804 2003 Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma?
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
12039929 2002 PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.
11997098 2002 The EF-hand calcium-binding protein calmyrin inhibits the transcriptional and DNA-binding activity of Pax3.
11863357 2002 Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma.
11735247 2001 Transcriptional regulation of IGF-I receptor gene expression by the PAX3-FKHR oncoprotein.
11683776 2001 Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
11423130 2001 Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors.
11244500 2001 Regulation of Pax3 transcriptional activity by SUMO-1-modified PML.
11029584 2000 Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic transcription factors.
10942418 2000 Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
10871843 2000 Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR.
10779847 2000 Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.
10610023 1999 Expression pattern of PAX3 and PAX6 genes during human embryogenesis.
10529415 1999 Msx1 antagonizes the myogenic activity of Pax3 in migrating limb muscle precursors.
10521655 1999 PAX3 gene structure, alternative splicing and evolution.
10393185 1999 The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx.
10191090 1999 Functional characterization of the human PAX3 gene regulatory region.
9584079 1998 A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.
9546061 1998 Normal and rearranged PAX3 expression in human rhabdomyosarcoma.
9541113 1998 Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
9500554 1998 Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
9452070 1998 Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
9067759 1997 Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
8863157 1996 PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
8845842 1996 Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
8664898 1996 Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
8589691 1995 The mutational spectrum in Waardenburg syndrome.
8533800 1995 Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
8490648 1993 Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
8447316 1993 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).
8423616 1993 Waardenburg syndrome and myelomeningocele in a family.
8322830 1993 Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3.
8275086 1993 Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
8221646 1993 Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma.
8098985 1993 Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.
7981674 1994 PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
7897628 1995 A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
7862145 1995 The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3.
7833953 1994 A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).
7825605 1995 Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
7782066 1995 Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma.
7726174 1995 Homozygosity for Waardenburg syndrome.
7545913 1994 Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues.
7091186 1982 Upper limb involvement in the Klein-Waardenburg syndrome.
6859126 1983 Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
2785681 1989 Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).
2609099 1989 Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi.
2501086 1989 Conservation of the paired domain in metazoans and its structure in three isolated human genes.
1552554 1992 Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.
1536170 1992 Autosomal dominant inheritance of Klein-Waardenburg syndrome.
1349198 1992 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.
1347149 1992 An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
1347148 1992 Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
1308353 1992 Waardenburg syndrome associated with meningomyelocele.
1303193 1992 A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.