|
Alveolar rhabdomyosarcoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Entinostat, a selective class I histone deacetylase inhibitor, has been reported to enhance the activity of cytotoxic agents and suppress expression of PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS).
|
31099166 |
2019 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alveolar rhabdomyosarcoma (RMS) is associated with an underlying pathogenic translocation involving either PAX3 or PAX7 and FOXO1.
|
31299267 |
2019 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
We previously identified the class I-specific histone deacetylase inhibitor, entinostat (ENT), as a pharmacological agent that transcriptionally suppresses the PAX3:FOXO1 tumor-initiating fusion gene found in alveolar rhabdomyosarcoma (aRMS), and we further investigated the mechanism by which ENT suppresses PAX3:FOXO1 oncogene and demonstrated the preclinical efficacy of ENT in RMS orthotopic allograft and patient-derived xenograft (PDX) models.
|
31113472 |
2019 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.
|
31190477 |
2019 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In this review, we will discuss the current knowledge regarding potential therapeutic targets that might contribute to indirect interference with PAX3-FOXO1 activity in alveolar rhabdomyosarcoma at the different molecular levels and extrapolate these findings to fusion transcription factors in general.
|
29146205 |
2018 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
We also observed in double knockdown studies that the inhibition of ARMS cell proliferation, survival, and migration after knockdown of PAX3-FOXO1 was significantly (>75%) reversed by knockdown of IL24.
|
30190424 |
2018 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The majority of ARMS tumors (80%) harbor a PAX3-FOXO1 or less commonly a PAX7-FOXO1 fusion gene.
|
29367756 |
2018 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
<i>PPP2R1A</i> regulated by PAX3/FOXO1 fusion contributes to the acquisition of aggressive behavior in PAX3/FOXO1-positive alveolar rhabdomyosarcoma.
|
29861864 |
2018 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Among the subsets of this disease, alveolar rhabdomyosarcoma (ARMS) expressing paired box 3 (PAX3) and forkhead box O1 (PAX3-FOXO1) fusion oncoprotein has the worst prognosis.
|
29277758 |
2018 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
Somatic genetic rearrangements that juxtapose the PAX3 DNA binding domain to the transcriptional activation domain of other transcription factors deregulate PAX3 function and contribute to the pathogenesis of the soft tissue cancers alveolar rhabdomyosarcoma and biphenotypic sinonasal sarcoma.
|
29730428 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.
|
30173992 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
|
30314436 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family.
|
29287868 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The R270G PAX3 retained nuclear distribution and normal DNA-binding ability; however, it failed to activate MITF promoter, suggesting that haploinsufficiency may be the underlying mechanism for the mild WS1 phenotype of the study family.
|
29158168 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B (EDNRB) gene.
|
28502583 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2.
|
29792164 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
|
30314436 |
2018 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
The chromosomal translocation that leads to alveolar rhabdomyosarcoma development generates a novel TAD that is likely to favour ectopic PAX3:FOXO1 oncogene activation in non-PAX3 territories.
|
28615069 |
2017 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alveolar rhabdomyosarcoma (aRMS) is a pediatric soft tissue cancer commonly associated with a chromosomal translocation that leads to the expression of a Pax3:Foxo1 or Pax7:Foxo1 fusion protein, the developmental underpinnings of which may give clues to its therapeutic approaches.
|
28883017 |
2017 |
|
Alveolar rhabdomyosarcoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Alveolar rhabdomyosarcoma (ARMS) is a devastating pediatric disease driven by expression of the oncogenic fusion gene PAX3-FOXO1A.
|
27864345 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
|
29224756 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
|
28690861 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A new missense mutation in the paired domain of the mouse Pax3 gene.
|
28381738 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth.
|
28686331 |
2017 |