PAX3: A Driver of Normal Development and Disease [PDF]
BiomoleculesPAX3 plays a vital role in regulating proper growth, migration, differentiation, and survival during development of normal tissues, including those derived from the embryonic neural crest.
Noah B. Prince +3 more
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Rhabdomyosarcoma fusion oncoprotein initially pioneers a neural signature in vivo [PDF]
Cell ReportsSummary: Fusion-positive rhabdomyosarcoma is an aggressive pediatric cancer molecularly characterized by arrested myogenesis. The defining genetic driver, PAX3::FOXO1, encodes a chimeric gain-of-function transcription factor.
Jack Kucinski +8 more
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Enoxaparin alleviates preeclampsia by enhancing trophoblast function via the NSUN2-mediated m5C methylation of PAX3 mRNA [PDF]
European Journal of Medical ResearchObjective Preeclampsia (PE), a complex multisystem disorder, is a major contributor to maternal and perinatal morbidity and mortality. Enoxaparin, a low-molecular-weight heparin, has shown therapeutic efficacy in preventing various diseases.
Xuan Zhong, Danfeng Zeng
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Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review [PDF]
Frontiers in PediatricsBackgroundWaardenburg syndrome (WS) is a group of autosomal dominant hereditary disorders characterized by auditory–pigmentary abnormalities. Haploinsufficiency of paired box 3 (PAX3) gene is one of the known pathogenic mechanisms.
Qi Chen +7 more
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M-Cadherin Is a PAX3 Target During Myotome Patterning
Frontiers in Cell and Developmental Biology, 2021 PAX3 belongs to the paired-homeobox family of transcription factors and plays a key role as an upstream regulator of muscle progenitor cells during embryonic development.
Joana Esteves de Lima +5 more
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Structural and functional studies of FKHR-PAX3, a reciprocal fusion gene of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma. [PDF]
PLoS ONE, 2013 Alveolar rhabdomyosarcoma (ARMS) is an aggressive pediatric cancer of skeletal muscle. More than 70% of ARMS tumors carry balanced t(2;13) chromosomal translocation that leads to the production of two novel fusion genes, PAX3-FKHR and FKHR-PAX3.
Qiande Hu, Yewen Yuan, Chiayeng Wang
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PAX3 expression in normal skin melanocytes and melanocytic lesions (naevi and melanomas). [PDF]
PLoS ONE, 2010 BackgroundCutaneous Malignant Melanoma is an aggressive form of skin cancer, arising in cutaneous melanocytes. The transcription factor PAX3 regulates melanocyte specification from neural crest cells during development but expression in differentiated ...
Sandra Medic, Mel Ziman
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Pax3 Hypomorphs Reveal Hidden Pax7 Functional Genetic Compensation in Utero
Journal of Developmental Biology, 2022 Pax3 and Pax7 transcription factors are paralogs within the Pax gene family that that are expressed in early embryos in partially overlapping expression domains and have distinct functions.
Hong-Ming Zhou, Simon J. Conway
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The PAX3-FOXO1 fusion protein present in rhabdomyosarcoma interferes with normal FOXO activity and the TGF-β pathway. [PDF]
PLoS ONE, 2015 PAX3-FOXO1 (PAX3-FKHR) is the fusion protein produced by the genomic translocation that characterizes the alveolar subtype of Rhabdomyosarcoma, a pediatric sarcoma with myogenic phenotype. PAX3-FOXO1 is an aberrant but functional transcription factor. It
Michel Schmitt-Ney, Giovanni Camussi
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Pax3 stimulates p53 ubiquitination and degradation independent of transcription. [PDF]
PLoS ONE, 2011 Pax3 is a developmental transcription factor that is required for neural tube and neural crest development. We previously showed that inactivating the p53 tumor suppressor protein prevents neural tube and cardiac neural crest defects in Pax3-mutant mouse
Xiao Dan Wang +2 more
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