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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Paired box 3

PAX3, Splotch
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: FOXO1, PAX7, CAN, HAD, POLYMERASE
Papers on PAX3
Haplosufficiency of PAX3 for melanoma development in Tyr: NRASQ61K; Cdkn2a-/- mice allows identification and sorting of melanoma cells using a Pax3GFP reporter allele.
Egidy et al., Lausanne, Switzerland. In Melanoma Res, Feb 2016
The role of the Pax3 gene in embryonic development of pigment cells is well characterized.
Clinical and genetic investigation of families with type II Waardenburg syndrome.
Wu et al., Changsha, China. In Mol Med Report, Feb 2016
The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing.
Histology, Fusion Status, and Outcome in Alveolar Rhabdomyosarcoma With Low-Risk Clinical Features: A Report From the Children's Oncology Group.
Walterhouse et al., Chicago, United States. In Pediatr Blood Cancer, Feb 2016
PROCEDURE: We re-reviewed cases that were classified as ARMS on D9602 using current histologic criteria, determined PAX3/PAX7-FOXO1 fusion status, and compared these data with outcome for this unique group of patients.
Molecular cloning, characterisation and functional analysis of the duck Forkhead box O3 (FOXO3) gene.
Li et al., China. In Br Poult Sci, Feb 2016
However, myostatin (MSTN) and PAX3 mRNA expression did not differ.
[Clinical classification and genetic mutation study of two pedigrees with type Ⅱ Waardenburg syndrome].
Wu et al., Changsha, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Jan 2016
Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential mutations.
Prognostic value of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma: Systematic review and meta-analysis.
Ochi et al., Hiroshima, Japan. In Crit Rev Oncol Hematol, Oct 2015
PURPOSE: The objective of this systematic review is to provide an unprecedented summary of the prognostic impact of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma.
PAX transcription factors in neural crest development.
Monsoro-Burq, Orsay, France. In Semin Cell Dev Biol, Aug 2015
Recent studies have highlighted the role of PAX3 and PAX7 in neural crest induction.
PAX3 and PAX7 as upstream regulators of myogenesis.
Relaix et al., Paris, France. In Semin Cell Dev Biol, Aug 2015
Like other subclasses within the PAX transcription factor family, PAX3 and PAX7 play important roles in the emergence of a number of different tissues during development.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Mundlos et al., Berlin, Germany. In Cell, Jun 2015
We show that distinct human limb malformations are caused by deletions, inversions, or duplications altering the structure of the TAD-spanning WNT6/IHH/EPHA4/PAX3 locus.
Rhabdomyosarcoma: Advances in Molecular and Cellular Biology.
Duan et al., Boston, United States. In Sarcoma, 2014
The two major histological subtypes of RMS are alveolar RMS, driven by the fusion protein PAX3-FKHR or PAX7-FKHR, and embryonic RMS, which is usually genetically heterogeneous.
[Progress in the study of syndromic hearing loss resulted from neural crest abnormalities].
Yong et al., Changsha, China. In Yi Chuan, 2014
Dysfunction of neural crest cells (NCC), which are caused by the gene interaction network extended from SOX10 and PAX3, are relevant to the phenotype of WS, CMS and LVAS.
Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.
Oliveira et al., Rochester, United States. In Nat Genet, 2014
resulting in a PAX3-MAML3 fusion protein that is a potent transcriptional activator of PAX3 response elements.
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.
Ladanyi et al., New York City, United States. In Nat Genet, 2014
Whereas ARMS tumors typically contain translocations generating PAX3-FOXO1 or PAX7-FOXO1 fusions that block terminal myogenic differentiation, no functionally comparable genetic event has been found in ERMS tumors.
A mouse model of rhabdomyosarcoma originating from the adipocyte lineage.
Olson et al., Dallas, United States. In Cancer Cell, 2012
Rhabdomyosarcoma includes two histolopathologic subtypes: alveolar rhabdomyosarcoma, driven by the fusion protein PAX3-FOXO1 or PAX7-FOXO1, and embryonal rhabdomyosarcoma (ERMS), which is genetically heterogeneous.
Pax3 gene expression is not altered during diaphragmatic development in nitrofen-induced congenital diaphragmatic hernia.
Puri et al., Dublin, Ireland. In J Pediatr Surg, 2012
Pax3 gene expression is unaltered in the pleuroperitoneal folds & developing diaphragm in the nitrofen congenital diaphragmatic hernia model.The diaphragmatic defect is not caused by disturbance of myogenesis & muscularization.
Caudal-related homeobox (Cdx) protein-dependent integration of canonical Wnt signaling on paired-box 3 (Pax3) neural crest enhancer.
Pilon et al., Montréal, Canada. In J Biol Chem, 2012
Cdx proteins operate via direct binding to an evolutionarily conserved neural crest enhancer of the Pax3 proximal promoter
PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification.
Shipley et al., United Kingdom. In J Clin Oncol, 2012
PAX3 fusion gene status is a specific prognostic molecular marker in patient diagnosed with rhabdomyosarcoma.
Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.
Evans et al., Bristol, United Kingdom. In Am J Hum Genet, 2012
The association between rs7559271 in PAX3 and the nasion to midendocanthion distance (n-men), was replicated (p = 4 x 10(-7)).
Interplay of Nkx3.2, Sox9 and Pax3 regulates chondrogenic differentiation of muscle progenitor cells.
Zeng et al., Boston, United States. In Plos One, 2011
the balance of Pax3, Nkx3.2 and Sox9 may act as a molecular switch during the chondrogenic differentiation of muscle progenitor cells, which may be important for fracture healing.
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