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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 (show MITF Proteins) and PAX3 together with known variants in the EDNRB (show EDNRB Proteins) and KIT genes explain a large proportion of horses with the more extreme white spotting phenotypes
The pax3 and Pax7 (show PAX7 Proteins) paralogs cooperate in neural and neural crest patterning using distinct molecular mechanisms, in Xenopus laevis embryos.
Results demonstrate that serum level of miR (show MLXIP Proteins)-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 (show MLXIP Proteins)-658 significantly up-regulate or down-regulate the levels of PAX3 and MET in gastric cell lines.
miR (show MLXIP Proteins)-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 (show TP53 Proteins) expression, and increased levels of cleaved caspase 3 (show CASP3 Proteins)(17kD) and cleaved caspase 8 (show CASP8 Proteins) (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 (show FOXO1 Proteins) 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 (show FOXO1 Proteins)-occupied super enhancers. Furthermore, PAX3-FOXO1 (show FOXO1 Proteins) recruits and requires the BET bromodomain protein BRD4 (show BRD4 Proteins) to function at super enhancers, resulting in a complete dependence on BRD4 (show BRD4 Proteins) 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 (show FOXO1 Proteins) TADs, respectively, suggesting that TAD (show CRTAM Proteins) organisation precedes the formation of regulatory long-range interactions. Our results demonstrate that, upon translocation, novel regulatory landscapes are formed allowing new intra-TAD (show CRTAM Proteins) interactions between the original loci involved
identified novel EYA4 (show EYA4 Proteins) 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 (show EYA4 Proteins) 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 (show FOXO3 Proteins) protein (FOXO3a (show FOXO3 Proteins)).
These previously unreported digenic mutations in PAX3/GJB2 (show GJB2 Proteins) resulted in deafness associated with Waardenburg syndrome type I in this family
SNP and haplotype analysis of PAX3 gene provide evidence for association with growth traits in Chinese cattle.
Zac1 (show PLAGL1 Proteins) and GPR39 (show GPR39 Proteins) are upregulated by Pax7 (show PAX7 Proteins) but not Pax3. Pax3 plays a different role in myogenic progression than Pax7 (show PAX7 Proteins).
Mass spectrometry based screening for potential interaction partners revealed that BRAF (show BRAF Proteins) interacts and phosphorylates PAX3.
Sequence analysis identified a missense point mutation (c.101G>A) in exon 2 of Pax3 that resulted in a methionine to isoleucine conversion at amino acid 62 of the PAX3 protein
This study show that Pax3+ satellite cells retain long-term self-renewal ability and express slow-MyHC isoforms after differentiation.
Pax3 enhances expression of Polysialic acid on neural cell adhesion molecule (show MCAM Proteins) in NMuMG cells by upregulating ST8Sia II (show ST8SIA2 Proteins) expression and downregulating ST8Sia IV (show ST8SIA4 Proteins) expression.
PAX3 role in neural tube defects
The Pax3(GFP) allele proved to be a convenient marker to identify and directly sort heterogeneous populations of melanoma cells within the tumor bulk at each stage of melanoma progression.
deletion of Foxc1 (show FOXC1 Proteins) and Foxc2 (show FOXC2 Proteins) specifically in Pax3-positive cells affects cell fate choices in the dermomyotome of somites at forelimb level, promoting the myogenic cell fate at the expense of endothelial cells that migrate to the limb
findings suggest a tumor suppressor role for APC (show APC Proteins)/C(Cdh1 (show CDH1 Proteins)) in melanocytes and that targeting PAX3 may be a strategy for treating melanoma.
These results demonstrate a requirement for endoglin (show ENG Proteins) in descendants of Pax3-expressing vascular cell precursors.
BMP, Wnt (show WNT2 Proteins) and FGF signaling are needed for expression of the neural plate border specifiers pax3a and zic3 (show ZIC3 Proteins) 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