PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE Recently, PAX3 overexpression has been implicated in glioma tumorigenesis by enhancing proliferation, increasing invasiveness and inducing resistance to apoptosis of glioma cells, while maintaining brain glioma stem cells (BGSCs) stemness. 31352198 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Notably, the RREB1-MKL2 chimeric transcription factor encoded by this fusion gene produced an increase in MKL2 expression, which regulates both neural and myogenic differentiation, mimicking the crucial role of PAX3 reported in SNS oncogenesis. 29266774 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE PAX3-FOXO1 cooperates with additional molecular changes to promote oncogenic transformation and tumorigenesis in various human and murine models. 30373318 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE We applied this <i>PAX3-FOXO1</i> transgenic zebrafish model to study how <i>PAX3-FOXO1</i> leverages early developmental pathways for oncogenesis and found that <i>her3</i> is a unique target. 29869612 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE These data suggest that loss of MST/Hippo signaling acts with <i>Pax3:Foxo1</i> expression and <i>Cdkn2a</i> loss to promote tumorigenesis. 30093562 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE We report an alternate PAX3-FOXO1 oncogenic fusion in SNS, confirming the crucial role of PAX3 in SNS oncogenesis. 26355893 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE As PAX3-FOXO1 has proven chemically intractable, this study aims to identify targetable proteins that are downstream from or cooperate with PAX3-FOXO1 to support tumorigenesis. 26071485 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Although associations between ARMS tumorigenesis and PAX3, PAX7, and FKHR are well recognized, the complete genetic etiology underlying RMS pathogenesis and progression remains unclear. 24551291 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE These results indicate that the PAX3-NCOA2 fusion gene has a dual role in the tumorigenesis of RMS: promotion of the proliferation and inhibition of the myogenic differentiation of RMS cells. 24213582 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Alveolar rhabdomyosarcoma-associated PAX3-FOXO1 promotes tumorigenesis via Hippo pathway suppression. 24334454 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE When constantly expressed, PAX3-FOXO1 interfered with the muscle differentiation process, which presumably contributes to tumorigenesis. 24089019 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Therefore we were unable to identify any contribution of up regulation of wild type FGFR4 to PAX3-FOXO1 driven tumorigenesis. 21882254 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE The aim of this study was to investigate the implication of Pax3 and Pax7 C-terminal isoforms during myogenic differentiation and tumorigenesis, since fusions involving these genes are commonly associated with alveolar rhabdomyosarcoma (ARMS). 21421465 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE The results presented in this report not only suggest a possible mechanism by which the disregulation of Pax3-FOXO1 may contribute to tumorigenesis but also identify a novel target for the development of therapies for the treatment of ARMS. 19904978 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE High expression of the PAX3-FKHR oncoprotein is required to promote tumorigenesis of human myoblasts. 19893043 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE In conclusion, we identified a selected set of biologically relevant genes modulated by PAX3-FKHR, and demonstrated that PAX3-FKHR contributes to the expression of MYCN and in turn MYCN collaborates with PAX3-FKHR in tumorigenesis. 18335505 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE This review highlights recent advances in numerous areas of biomedical investigation that are providing new insights into the biology, molecular pathology, and translational science of ARMS: the identification of downstream targets of PAX3-FKHR and collaborating events in the process of tumorigenesis and metastasis; generation of animal models based on the gene fusion and collaborating events; development of new assays for diagnosis, prognosis, and detection of minimal disseminated disease; and exploration of immune recognition of this tumor and the fusion protein. 17311532 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE These functional studies have advanced our understanding of the effects of PAX3 isoforms in melanocytes and their potential contribution in tumorigenesis. 16951170 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE Expression of Pax3:Fkhr in muscle is necessary but not sufficient to initiate tumorigenesis at high frequency. 16140913 2005
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE These findings of genes regulated by PAX3-FKHR will direct future biological and clinical investigation to important pathways contributing to ARMS tumorigenesis and progression. 15184910 2004
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE Most strikingly, upregulated PAX7 expression is almost entirely restricted to cases without PAX3-FKHR or PAX7-FKHR fusion genes and may contribute to tumorigenesis in the absence of chimaeric PAX transcription factors. 12865925 2003
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE Although PAX3-FKHR exhibits transforming activity in immortalized fibroblast cell lines, a direct role of this fusion protein in tumorigenesis in vivo has not been shown. 12242297 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 AlteredExpression phenotype BEFREE Therefore, we evaluated the role of PAX3/FKHR in the regulation of GLUT4 gene expression in muscle tumorigenesis. 12414908 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE We have demonstrated that synthetic repressors combining PAX3 DNA binding domains with different repression domains, KRAB or SNAG, are able to specifically inhibit malignant growth and suppress tumorigenesis in alveolar rhabdomyosarcoma tumor cells transformed by the translocation-derived chimeric transcriptional activator, PAX3-FKHR. 11164187 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE We hypothesize that PAX3-FKHR regulates downstream effector genes involved in rhabdomyosarcoma tumorigenesis. 9721857 1998