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PAX3: A Driver of Normal Development and Disease [PDF]

Biomolecules
PAX3 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, Joyce H. Liang, Theresa M. Rosato, Deborah Lang   +3 more
doaj   +2 more sources

Rhabdomyosarcoma fusion oncoprotein initially pioneers a neural signature in vivo [PDF]

Cell Reports
Summary: 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, Alexi Tallan, Cenny Taslim, Andrew M. Vontell, Katherine M. Silvius, Meng Wang, Matthew V. Cannon, Benjamin Z. Stanton, Genevieve C. Kendall   +8 more
doaj   +2 more sources

Modeling of the human alveolar rhabdomyosarcoma Pax3-Foxo1 chromosome translocation in mouse myoblasts using CRISPR-Cas9 nuclease. [PDF]

PLoS Genetics, 2015
Many recurrent chromosome translocations in cancer result in the generation of fusion genes that are directly implicated in the tumorigenic process. Precise modeling of the effects of cancer fusion genes in mice has been inaccurate, as constructs of ...
Irina V Lagutina, Virginia Valentine, Fabrizio Picchione, Frank Harwood, Marcus B Valentine, Barbara Villarejo-Balcells, Jaime J Carvajal, Gerard C Grosveld   +7 more
doaj   +4 more sources

Enoxaparin alleviates preeclampsia by enhancing trophoblast function via the NSUN2-mediated m5C methylation of PAX3 mRNA [PDF]

European Journal of Medical Research
Objective 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
doaj   +2 more sources

Mild features of partial PAX3 deletion in patients with prenatal Waardenburg syndrome: a case report and literature review [PDF]

Frontiers in Pediatrics
BackgroundWaardenburg 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, Qi Chen, Qi Chen, Lin Shi, Lin Shi, Yunpeng Chen, Xinyu Cao, Yan Yang   +7 more
doaj   +2 more sources

PAX3 expression patterns in ocular surface melanocytes [PDF]

Scientific Reports
PAX3, a transcription factor essential for neural crest development and melanocyte progenitors, is expressed in various melanocytic tissues. However, its role in ocular surface tissues remains poorly understood.
Eva Ulrich, Sebastian Kistenmacher, Gottfried Martin, Ursula Schlötzer-Schrehardt, Berthold Seitz, Claudia Auw-Hädrich, Günther Schlunck, Thomas Reinhard, Naresh Polisetti   +8 more
doaj   +2 more sources

Early Acquisition of Neural Crest Competence During hESCs Neuralization [PDF]

, 2010
Background: Neural crest stem cells (NCSCs) are a transient multipotent embryonic cell population that represents a defining characteristic of vertebrates.
Bronner-Fraser, Marianne, Cattarossi, Giulio, Cimadamore, Flavio, Curchoe, Carol Lynn, Maurer, Jochen, McKeown, Sonja J., Nilbratt, Mats, Snyder, Evan Y., Terskikh, Alexey V.   +8 more
core   +16 more sources

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, Reem Bou Akar, Myriam Mansour, Didier Rocancourt, Margaret Buckingham, Frédéric Relaix   +5 more
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source