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Pax3 and SB1 gene interact to create different coat color patterns
No significant associations with coat color were found for PAX3 variants
A novel missense variant, PAX3:p.Pro32Arg, in Appaloosa horses with a splashed white phenotype in addition to their leopard complex spotting patterns.
several independent mutations in MITF and PAX3 together with known variants in the EDNRB and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes
The pax3 and Pax7 paralogs cooperate in neural and neural crest patterning using distinct molecular mechanisms, in Xenopus laevis embryos.
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.
Results shows that GILT expression is required for downregulation of PAX-3 proteins in late stage human melanoma cells. GILT co-localizes with PAX-3 proteins regulating its expression through the autophagy and lysosomal degradation pathway in human melanoma cells.
Results demonstrate that serum level of miR-658 is significantly lower in the NM group than in the DM group. Meanwhile, the levels of PAX3 and MET are lower in the NM group than in the DM group too. Both overexpression and silence of miR-658 significantly up-regulate or down-regulate the levels of PAX3 and MET in gastric cell lines.
miR-362-3p/Pax3 axis regulates cell viability, migration and invasion of HTR8/SVneo cells under hypoxia.
In spinal cord tissue, lower PAX3 expression, higher p53 expression, and increased levels of cleaved caspase 3(17kD) and cleaved caspase 8 (18kD) were found in anencephaly cases but not in spina bifida cases when compared with controls.
PAX3 has a major regulatory role in the development, maintenance and progression of certain tumors, which may be related to its role in normal development. [review]
PAX3-FOXO1 fusion protein serves as a driver mutation to initiate a cascade of mRNA and miRNA changes that ultimately reprogram proliferating myoblasts to induce the formation of alveolar rhabdomyosarcoma
Cells harboring the fusion gene are selectively sensitive to small-molecule inhibition of protein targets induced by, or bound to, PAX3-FOXO1-occupied super enhancers. Furthermore, PAX3-FOXO1 recruits and requires the BET bromodomain protein BRD4 to function at super enhancers, resulting in a complete dependence on BRD4 and a significant susceptibility to BRD inhibition
The borders of this novel topologically associating domains (TADs)correspond to the original 5'- and 3'- borders of the PAX3 and FOXO1 TADs, respectively, suggesting that TAD organisation precedes the formation of regulatory long-range interactions. Our results demonstrate that, upon translocation, novel regulatory landscapes are formed allowing new intra-TAD interactions between the original loci involved
identified novel EYA4 mutation can be considered responsible of the hearing loss observed in the proband and her father, while a dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations
Transcriptional factor PAX3 (PAX3) exerted its tumor suppressor function by inhibiting the activity of major signaling pathways and enhancing expression and activity of transcription factor forkhead box O3 protein (FOXO3a).
These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family
Study identified a novel heterozygous mutation of the PAX3 gene causing dysfunction of PAX3 transcription in patients with Waardenburg syndrome type 1. These results indicated that the loss-of-function may be resulting from deletion of the transcription activation domain.
absence of PAX3 mutation in one patient WS1 highlights the fact that the clinical classification is sometimes insufficient to distinguish WS1 from other types WS hence the interest of sequencing the other WS genes in this patient
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.
PAX3-FOXO1 collaborates with MYCN during early rhabdomyosarcoma (RMS) tumourigenesis to dysregulate proliferation and inhibit myogenic differentiation and cell death.
The studies identify a P/CAF-PAX3-FOXO1 signalling node that promotes oncogenesis and may contribute to MyoD dysfunction in Alveolar rhabdomyosarcoma (ARMS).
PAK3 mutation has a role in intellectual disability and macrocephaly in monozygotic twins [family case report with two affected patients]
Pax3 regulates GFAP expression.
novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) identified which co-segregated with Waardenburg syndrome type I in Chinese family
SNP and haplotype analysis of PAX3 gene provide evidence for association with growth traits in Chinese cattle.
BMP, Wnt and FGF signaling are needed for expression of the neural plate border specifiers pax3a and zic3 in zebrafish
evidence of YAP's role in regulating pax3 neural crest expression
Pax3 in zebrafish is required for specification of two specific lineages of neural crest, xanthophores and enteric neurons.
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2\;13)(q35\;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini.
paired box 3
, paired box protein 3
, paired box gene 3 (Waardenburg syndrome 1)
, Paired-domain transcription factor Pax3
, Waardenburg syndrome 1
, paired box protein Pax-3
, paired-box 3
, paired box protein Pax-3-like
, paired box 3 b
, paired box protein Pax-3-B
, paired-domain transcription factor Pax3-B
, paired box gene 3
, paired box homeotic gene 3
, paired domain gene 3
, paired domain gene HuP2
, paired-box 3 protein
, homeodomain protein PAX3