Search Results - Shaoke Chen

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  1. 1
    49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes

    49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes by Yufang Du, Liangrong Liao, Xianda Wei, Yunting Ma, Meizhen Shi, Chunyan Li, Juliang Liu, Wenting Lin, Hao Zeng, Shaoke Chen, Baoheng Gui

    Published 2025-01-01

    49, XXXYY is a rare form of sex chromosomal aneuploidy that has been reported in 11 cases worldwide. The parental origin of the extra sex chromosomes and the specific clinical features of this condition remain unclear. We recruited a case with 49, XXXYY and performed genome-wide copy number variatio...

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  2. 2
    EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis

    EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis by Lianlei Wang, Xinyu Yang, Sen Zhao, Pengfei Zheng, Wen Wen, Kexin Xu, Xi Cheng, Qing Li, Anas M Khanshour, Yoshinao Koike, Junjun Liu, Xin Fan, Nao Otomo, Zefu Chen, Yaqi Li, Lulu Li, Haibo Xie, Panpan Zhu, Xiaoxin Li, Yuchen Niu, Shengru Wang, Sen Liu, Suomao Yuan, Chikashi Terao, Ziquan Li, Shaoke Chen, Xiuli Zhao, Pengfei Liu, Jennifer E Posey, Zhihong Wu, Guixing Qiu, DISCO study group (Deciphering Disorders Involving Scoliosis & COmorbidities), Shiro Ikegawa, James R Lupski, Jonathan J Rios, Carol A Wise, Jianguo T Zhang, Chengtian Zhao, Nan Wu

    Published 2025-07-01

    Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we first reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candidate genes using either location-based or function-based strategi...

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