Property Summary

NCBI Gene PubMed Count 52
PubMed Score 430.72
PubTator Score 208.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer 1.100 8.1e-08

 GO Component (1)

Gene RIF (31)

PMID Text
26234681 these results suggest that sarcoma metastasis can be partially controlled through Pax7/MyoD-dependent activation of miR-182 and provide insight into the role that myogenic transcription factors have in sarcoma progression
24554430 RAGE upregulates myogenin which upregulates MyoD and downregulates PAX7, with consequent inhibition of proliferation and stimulation of differentiation.
24084740 Pax7 responds to NF-kappaB by impairing the regenerative capacity of myogenic cells in the muscle microenvironment to drive muscle wasting in cancer.
23512105 In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample.
23463464 Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 and VAX1 that may contribute to the etiology of CL(P)
23247248 SUMOylation of Pax7 is essential for neural crest development in chick embryos and for the inhibitory roles of Pax7 in C2C12-muscle differentiation.
23205730 High prevalence of 1p36 microdeletions in B-cell non-Hodgkin lymphomas is associated with PAX7 loss.
23079386 PAX3/7-FKHR gene fusions expression was detected in 56% of ARMS tumor samples.
22374423 PAX7-FKHR fusion gene inhibits myogenic differentiation via NF-kappaB upregulation.
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.
21954137 Analysis of Pax7 expressing myogenic cells in zebrafish muscle development, injury and disease.
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
21321994 MyoD can play an active role in Alveolar rhabdomyosarcoma by augmenting Pax7-FKHR function.
20677014 Observational study of gene-disease association. (HuGE Navigator)
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.
20333749 Transgenic Pax7 and MyoD are not essential for myogenic differentiation and participation of bone marrow-derived myogenic progenitors in muscle regeneration.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19142206 TAT analysis of all trios revealed two SNPs in PAX7 showing significant excess maternal transmission Isolated cleft lip with or without cleft palate
19142206 Observational study of gene-disease association. (HuGE Navigator)
19097049 Results identified a differentiation-resistant skeletal muscle progenitor cell population that was Pax7+/desmin- and capable of self-renewal.
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
17954266 An amplification event is required for the PAX7-FOXO1A chimeric transcript to reach a critical expression level.
17613043 Significant differences in survival and clinical characteristics between PAX3-FKHR and PAX7-FKHR positive tumors were seen indicating their role in carcinogenesis.
17285543 PAX 7-FKHR fusion transcripts were positive in 2/7 of alveolar rhabdomyosarcoma patients, and were negative in embryonal rhabdomyosarcoma and Control tumors.
15688409 PAX3, PAX7 and their fusions with FKHR are each expressed in rhabdomyosarcoma tumors as a consistent mixture of functionally distinct isoforms
15184910 in the RD embryonal rhabdomyosarcoma cell line, expression of wild-type PAX7 is downregulated by PAX3-FKHR
12865925 elevated PAX7 expression indicates myogenic satellite cell origin for embryonal rhabdomyosarcoma
12647804 expression of PAX7 is correlated with metastasis potential--REVIEW
12039929 PAX7-FKHR gene fusion is prognostic indicator for alveolar rhabdomyosarcoma.

AA Sequence

MAALPGTVPRMMRPAPGQNYPRTGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIVEMAHHGIRPC      1 - 70
VISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPRQVATPDVEKKIEEYKRENPGMFSWEIRDRLLKD     71 - 140
GHCDRSTVPSGLVSSISRVLRIKFGKKEEEDEADKKEDDGEKKAKHSIDGILGDKGNRLDEGSDVESEPD    141 - 210
LPLKRKQRRSRTTFTAEQLEELEKAFERTHYPDIYTREELAQRTKLTEARVQVWFSNRRARWRKQAGANQ    211 - 280
LAAFNHLLPGGFPPTGMPTLPPYQLPDSTYPTTTISQDGGSTVHRPQPLPPSTMHQGGLAAAAAAADTSS    281 - 350
AYGARHSFSSYSDSFMNPAAPSNHMNPVSNGLSPQVMSILGNPSAVPPQPQADFSISPLHGGLDSATSIS    351 - 420
ASCSQRADSIKPGDSLPTSQAYCPPTYSTTGYSVDPVAGYQYGQYGQTAVDYLAKNVSLSTQRRMKLGEH    421 - 490
SAVLGLLPVETGQAY                                                           491 - 505
//

Text Mined References (55)

PMID Year Title
26234681 2016 Myogenic transcription factors regulate pro-metastatic miR-182.
24554430 2014 RAGE signaling deficiency in rhabdomyosarcoma cells causes upregulation of PAX7 and uncontrolled proliferation.
24084740 2013 NF-?B-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia.
23669352 2013 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
23512105 2013 Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
23463464 2013 Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
23247248 2013 SUMOylation of Pax7 is essential for neural crest and muscle development.
23205730 2013 High prevalence of 1p36 microdeletions in B-cell non-Hodgkin lymphomas (NHL) is associated with PAX7 loss.
23079386 2012 Investigation of PAX3/7-FKHR fusion genes and IGF2 gene expression in rhabdomyosarcoma tumors.
22952603 2012 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
22374423 2012 PAX7-FKHR fusion gene inhibits myogenic differentiation via NF-kappaB upregulation.
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.
21954137 2011 Analysis of Pax7 expressing myogenic cells in zebrafish muscle development, injury, and models of disease.
21421465 2011 Alternate PAX3 and PAX7 C-terminal isoforms in myogenic differentiation and sarcomagenesis.
21321994 2011 Pax7-FKHR transcriptional activity is enhanced by transcriptionally repressed MyoD.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
20351326 2010 Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma.
20333749 2010 Bone marrow-derived hematopoietic cells undergo myogenic differentiation following a Pax-7 independent pathway.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19142206 2009 Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
19097049 2009 Analysis of human muscle stem cells reveals a differentiation-resistant progenitor cell population expressing Pax7 capable of self-renewal.
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.
17954266 2007 Comparison of the proximal promoter regions of the PAX3 and PAX7 genes.
17613043 Pax3-fkhr and pax7-fkhr fusion genes impact outcome of alveolar rhabdomyosarcoma in children.
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].
16830101 2006 Getting the proto-Pax by the tail.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
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.
15527970 2004 Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12865925 2003 PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells.
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.
12234688 2002 Structural and functional characterization of the human PAX7 5'-flanking regulatory region.
12039929 2002 PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.
11601392 2001 [In vitro modelling of the interactions between the promoter and enhancer complexes].
10871843 2000 Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR.
10393185 1999 The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx.
9731536 1998 HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.
9339373 1997 The genomic organization and the full coding region of the human PAX7 gene.
8789435 1996 In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma.
8431641 1993 Mapping of the human homologs of the murine paired-box-containing genes.
8187070 1994 Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma.
8104868 1993 The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2.
8012384 1994 Purification of CpG islands using a methylated DNA binding column.
7981748 1993 Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
7902328 1993 The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36.
7527137 1994 Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes.
2501086 1989 Conservation of the paired domain in metazoans and its structure in three isolated human genes.