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 MGD
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. 8275086 1993
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. 8098985 1993
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE We have isolated two isoforms of cDNA clones from the human PAX3 gene, a candidate gene responsible for Waardenburg syndrome type I (WSI) as well as a gene associated with development of alveolar rhabdomyosarcoma. 7545913 1994
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization. 7536457 1995
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE The FKHR gene, which contains a forkhead DNA-binding motif, is fused to either PAX3 or PAX7 by the t(2;13) or t(1;13) translocation in alveolar rhabdomyosarcoma,respectively. 8634710 1995
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 GeneticVariation disease BEFREE Sequence analysis of the last intron of PAX3, which contains the previously mapped t(2;13)(q35;q14) translocation breakpoints of alveolar rhabdomyosarcoma, revealed the presence of a pair of inverted Alu repeats and a pair of inverted (GT)n-rich microsatellite repeats within a 5-kb region. 7782066 1995
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. 7630639 1995
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE These assays detect PAX3-FKHR and PAX7-FKHR chimeric transcripts in alveolar rhabdomyosarcoma, EWS-FLI1 and EWS-ERG chimeric transcripts in Ewing's sarcoma, and EWS-WT1 chimeric transcripts in desmoplastic small round cell tumor. 7530783 1995
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE These results suggest that Pax3 may suppress the terminal differentiation of migrating limb myoblasts and that the PAX3-forkhead fusion may contribute to the phenotype of alveolar rhabdomyosarcoma by preventing terminal differentiation. 7744814 1995
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
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma 		0.300 Biomarker disease BEFREE These data suggest that the PAX3/FKHR fusion gene and wild-type PAX genes play a causative role in the formation of RMS and presumably other tumor types, possibly by suppressing the apoptotic program that would normally eliminate these cells. 8917562 1996
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 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 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 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 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 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