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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.
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
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 (show FOXO1 Proteins) collaborates with MYCN (show MYCN Proteins) during early rhabdomyosarcoma (RMS) tumourigenesis to dysregulate proliferation and inhibit myogenic differentiation and cell death.
The studies identify a P/CAF (show KAT2B Proteins)-PAX3-FOXO1 (show FOXO1 Proteins) signalling node that promotes oncogenesis and may contribute to MyoD (show MYOD1 Proteins) 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 (show GFAP Proteins) expression.
FOXD3 (show FOXD3 Proteins) is sufficient but not necessary to drive PAX3 expression in melanoma cells.
SNP and haplotype analysis of PAX3 gene provide evidence for association with growth traits in Chinese cattle.
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.
Results suggest that regional Pax3 expression not only marks a novel subset of High-grade Brainstem Glioma but also contributes to PDGF-B (show PDGFB Proteins)-induced brainstem gliomagenesis
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