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Select item 101279091.

PAX3 基因新突变致Ⅰ型Waardenburg综合征家系基因型与表型特征分析

李霞, 赵声波, 毕先云, 娄凡, 曾文娟, 高燕, 毛志勇, 马静

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Jul 5; 35(7): 621–626. Chinese. doi: 10.13201/j.issn.2096-7993.2021.07.010

PMCID:: PMC10127909

Abstract Article PDF–6.1M

Select item 66251512.

A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

Jing Ma, Ken Lin, Hong‐chao Jiang, Yanli Yang, Yu Zhang, Guilian Yang, Hao Sun, Cheng Ming, Xianyun Bi, Tiesong Zhang, Biao Ruan

Mol Genet Genomic Med. 2019 Jul; 7(7): e00798. Published online 2019 Jun 12. doi: 10.1002/mgg3.798

PMCID:: PMC6625151

Abstract Article PDF–1015K

Select item 66240833.

The expression and function of PAX3 in development and disease

Salah Boudjadi, Bishwanath Chatterjee, Wenyue Sun, Prasantha Vemu, Frederic G. Barr

Gene. Author manuscript; available in PMC 2019 Aug 5.

Published in final edited form as: Gene. 2018 Aug 5; 666: 145–157. Published online 2018 May 4. doi: 10.1016/j.gene.2018.04.087

PMCID:: PMC6624083

Abstract Article PDF–773K

Select item 65326384.

Screening for Novel PAX3 Polymorphisms and Risks of Spina Bifida

Wei Lu, Huiping Zhu, Shu Wen, Cecile Laurent, Gary M. Shaw, Edward J. Lammer, Richard H. Finnell

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2019 May 23.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2007 Jan; 79(1): 45–49. doi: 10.1002/bdra.20322

PMCID:: PMC6532638

Abstract Article PDF–365K

Select item 63415495.

Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons

Shanshan Lin, Aiguo Ren, Linlin Wang, Chloe Santos, Yun Huang, Lei Jin, Zhiwen Li, Nicholas D. E. Greene

Clin Epigenetics. 2019; 11: 13. Published online 2019 Jan 21. doi: 10.1186/s13148-019-0611-7

PMCID:: PMC6341549

Abstract Article PDF–1.6M

Select item 45364596.

Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome

Tsu-Fang Wu, Ya-Li Yao, I-Lu Lai, Chien-Chen Lai, Pei-Lun Lin, Wen-Ming Yang

J Biol Chem. 2015 Aug 14; 290(33): 20556–20564. Published online 2015 Jul 6. doi: 10.1074/jbc.M114.607713

PMCID:: PMC4536459

Abstract Article PDF–2.6M

Select item 43999497.

Mechanisms Contributing to Differential Regulation of PAX3 Downstream Target Genes in Normal Human Epidermal Melanocytes versus Melanoma Cells

Danielle Bartlett, Glen M. Boyle, Mel Ziman, Sandra Medic

PLoS One. 2015; 10(4): e0124154. Published online 2015 Apr 16. doi: 10.1371/journal.pone.0124154

PMCID:: PMC4399949

Abstract Article PDF–550K

Select item 42360268.

Recurrent PAX3-MAML3 Fusion in Biphenotypic Sinonasal Sarcoma

Xiaoke Wang, Krista L. Bledsoe, Rondell P. Graham, Yan W. Asmann, David S. Viswanatha, Jean E. Lewis, Jason T. Lewis, Margaret M. Chou, Michael J. Yaszemski, Jin Jen, Jennifer J. Westendorf, André M. Oliveira

Nat Genet. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Nat Genet. 2014 Jul; 46(7): 666–668. Published online 2014 May 25. doi: 10.1038/ng.2989

PMCID:: PMC4236026

Abstract Article PDF–888K

Select item 41508249.

PHOSPHORYLATION OF PAX3 CONTRIBUTES TO MELANOMA PHENOTYPES BY AFFECTING PROLIFERATION, INVASION, AND TRANSFORMATION

Aditi S. Iyengar, Patrick J. Miller, Jacob M. Loupe, Andrew D. Hollenbach

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2014 Sep; 27(5): 846–848. Published online 2014 Jun 26. doi: 10.1111/pcmr.12277

PMCID:: PMC4150824

Article PDF–209K

Select item 391611610.

PAX3 in neuroblastoma: oncogenic potential, chemosensitivity and signalling pathways

Wen-Hui Fang, Qiuyu Wang, Hong-Mei Li, Mashud Ahmed, Patricia Kumar, Shant Kumar

J Cell Mol Med. 2014 Jan; 18(1): 38–48. Published online 2013 Nov 4. doi: 10.1111/jcmm.12155

PMCID:: PMC3916116

Abstract Article PDF–490K

Select item 375053811.

Induction of Pax3 gene expression impedes cardiac differentiation

Qiao Li, Melanie Le May, Natascha Lacroix, Jihong Chen

Sci Rep. 2013; 3: 2498. Published online 2013 Aug 23. doi: 10.1038/srep02498

PMCID:: PMC3750538

Abstract Article PDF–658K

Select item 355908912.

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1

Filiz Hazan, A.Taylan Ozturk, Hamit Adibelli, Nurettin Unal, Ajlan Tukun

Mol Vis. 2013; 19: 196–202. Published online 2013 Jan 29.

PMCID:: PMC3559089

Abstract Article PDF–610K

Select item 330918013.

Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position

Lavinia Paternoster, Alexei I. Zhurov, Arshed M. Toma, John P. Kemp, Beate St. Pourcain, Nicholas J. Timpson, George McMahon, Wendy McArdle, Susan M. Ring, George Davey Smith, Stephen Richmond, David M. Evans

Am J Hum Genet. 2012 Mar 9; 90(3): 478–485. doi: 10.1016/j.ajhg.2011.12.021

PMCID:: PMC3309180

Abstract Article PDF–924K

Select item 309566314.

IDENTIFICATION OF SERINES 201 AND 209 AS SITES OF PAX3 PHOSPHORYLATION AND THE ALTERED PHOSPHORYLATION STATUS OF PAX3-FOXO1 DURING EARLY MYOGENIC DIFFERENTIATION

Kevin N. Dietz, Patrick J. Miller, Aditi S. Iyengar, Jacob M. Loupe, Andrew D. Hollenbach

Int J Biochem Cell Biol. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Int J Biochem Cell Biol. 2011 Jun; 43(6): 936–945. Published online 2011 Mar 31. doi: 10.1016/j.biocel.2011.03.010

PMCID:: PMC3095663

Abstract Article PDF–2.3M

Select item 298763915.

PAX3 expression in primary melanomas and nevi

Rebecca S. Plummer, Christopher R. Shea, Maria Nelson, Sara K. Powell, Diane M. Freeman, Colleen P. Dan, Deborah Lang

Mod Pathol. Author manuscript; available in PMC 2010 Nov 18.

Published in final edited form as: Mod Pathol. 2008 May; 21(5): 525–530. Published online 2008 Mar 7. doi: 10.1038/modpathol.3801019

PMCID:: PMC2987639

Abstract Article PDF–836K

Select item 290805016.

Pax3 induces differentiation of juvenile skeletal muscle stem cells without transcriptional upregulation of canonical myogenic regulatory factors

Arthur P. Young, Amy J. Wagers

J Cell Sci. 2010 Aug 1; 123(15): 2632–2639. Published online 2010 Jul 6. doi: 10.1242/jcs.061606

PMCID:: PMC2908050

Abstract Article

Select item 290119217.

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1

Juan Wang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang

Mol Vis. 2010; 16: 1146–1153. Published online 2010 Jun 22.

PMCID:: PMC2901192

Abstract Article PDF–996K

Select item 285864818.

PAX3 Expression in Normal Skin Melanocytes and Melanocytic Lesions (Naevi and Melanomas)

Sandra Medic, Mel Ziman

PLoS One. 2010; 5(4): e9977. Published online 2010 Apr 22. doi: 10.1371/journal.pone.0009977

PMCID:: PMC2858648

Abstract Article PDF–4.2M

Select item 180143919.

Homozygosity for Waardenburg syndrome.

J Zlotogora, I Lerer, S Bar-David, Z Ergaz, D Abeliovich

Am J Hum Genet. 1995 May; 56(5): 1173–1178.

PMCID:: PMC1801439

Summary Page Browse PDF–1.2M

Select item 168258520.

Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium

Lindsay A. Farrer, Kenneth M. Grundfast, Jean Amos, Kathleen S. Arnos, James H. Asher, Peter Beighton, Scott R. Diehl, Jörgen Fex, Carole Foy, Thomas B. Friedman, Jacquie Greenberg, Christopher Hoth, Mary Marazita, Aubrey Milunsky, Robert Morell, Walter Nance, Valerie Newton, Rajkumar Ramesar, Theresa B. San Agustin, James Skare, Cathy A. Stevens, Ronald G. Wagner, Edward R. Wilcox, Ingrid Winship, Andrew P. Read

Am J Hum Genet. 1992 May; 50(5): 902–913.

PMCID:: PMC1682585

Summary Page Browse PDF–1.6M

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