PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Childhood Alveolar Rhabdomyosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE To better understand the molecular pathogenesis of PAX3-FKHR, we carried out the first, unbiased genome-wide identification of PAX3-FKHR binding sites and associated target genes in alveolar rhabdomyosarcoma. 20663909 2010
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE In humans, mutations in the PAX3 gene cause Waardenburg syndrome, whereas a chromosomal translocation that generates a PAX3-FOXO1 fusion gene is associated with the development of alveolar rhabdomyosarcoma. 19199574 2009
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE Both areas showed diffuse nuclear expression for myogenin, and both areas expressed the PAX3-FKHR fusion gene, a genetic change associated with alveolar but not embryonal RMS. 19175284 2009
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE A valuable diagnostic aid and important prognostic parameter in alveolar rhabdomyosarcoma is the identification of PAX3-FOXO1 [t(2;13)(q35;q14)] or PAX7-FOXO1 [t(1;13)(p36;q14)] rearrangements. 18973919 2009
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE Effects of PAX3-FKHR on malignant phenotypes in alveolar rhabdomyosarcoma. 18022385 2008
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE This work highlights the potential of PAX3-FKHR to functionally operate as a deregulated Pangene and may have implications with regard to the identity of the precursor cell giving rise to alveolar rhabdomyosarcoma. 17490646 2007
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE Gene expression profiling identifies potential relevant genes in alveolar rhabdomyosarcoma pathogenesis and discriminates PAX3-FKHR positive and negative tumors. 16381018 2006
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE Lack of effective T-lymphocyte response to the PAX3/FKHR translocation area in alveolar rhabdomyosarcoma. 15838707 2005
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE We report the first mouse model of alveolar rhabdomyosarcoma using a conditional Pax3:Fkhr knock-in allele whose activation in late embryogenesis and postnatally is targeted to terminally differentiating Myf6-expressing skeletal muscle. 15489287 2004
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE PAX3-FKHR results from a t(2,13) chromosomal translocation, a unique genetic marker of alveolar rhabdomyosarcoma. 12401804 2003
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. 12039929 2002
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma. 11863357 2002
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE With the difficulties in morphological diagnosis of alveolar rhabdomyosarcoma on increasingly used small needle biopsy specimens, these data suggest that molecular analysis for PAX3-FKHR will be a clinically useful tool in treatment stratification in the future. 11556833 2001
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 AlteredExpression disease BEFREE A sample from a patient with a diagnosis of embryonal rhabdomyosarcoma on presentation and expression of PAX3-FKHR fusion transcript yielded a small focus of alveolar rhabdomyosarcoma and was reclassified as alveolar rhabdomyosarcoma. 10718207 2000
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 AlteredExpression disease BEFREE PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma. 10439042 1999
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE The Pax3-FKHR fusion protein is present in alveolar rhabdomyosarcoma and results from the t(2;13) (q35;q14) chromosomal translocation. 10393185 1999
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE The PAX3-FKHR fusion protein of human alveolar rhabdomyosarcoma consists of the DNA-binding domains of PAX3 and the transcriptional activation domain of FKHR. 10616906 1999
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE Structural analysis of PAX3 genomic rearrangements in alveolar rhabdomyosarcoma. 9530337 1998
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE These findings indicate that MET, which encodes a receptor involved in growth and motility signaling, is a downstream target of PAX3-FKHR in alveolar rhabdomyosarcoma. 9721857 1998
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE Alveolar rhabdomyosarcoma is characterized by a t(2;13)(q35;q14) chromosome translocation, which leads to the fusion of the PAX3 and the FKHR genes. 9294613 1997
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 AlteredExpression disease BEFREE Thus, gene-specific mechanisms were selected to overexpress PAX3-FKHR and PAX7-FKHR in alveolar rhabdomyosarcoma, presumably due to differences in regulation between the wild-type loci. 9223312 1997
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. 8789435 1996
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE In alveolar rhabdomyosarcoma, a (2;13)(q35;qt4) translocation is associated with a chimeric gene between PAX3 and FKHR. 8875708 1996
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE PAX-3-FORKHEAD chimeric mRNAs were amplified by PCR in 8 of 15 cases of alveolar rhabdomyosarcoma. 8943815 1996
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 AlteredExpression disease BEFREE The t(2;13) translocation of alveolar rhabdomyosarcoma results in tumor-specific expression of a chimeric transcription factor containing the N-terminal DNA-binding domain of PAX3 and the C-terminal transactivation domain of FKHR. 8643596 1996