The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis

Published:2022-05-02 Issue:1 Volume:11 Page:
ISSN:2045-9769
Container-title:Cell Regeneration
language:en
Short-container-title:Cell Regen

Author:

Wang Muchuan,Li Ziquan,Zhao Sen,Zheng Zhifa,Wang Yipeng,Qiu Guixing,Wu Zhihong,Wu Nan,Zhang Terry Jianguo,Cai Siyi

Funder

National Natural Science Foundation of China

Natural Science Foundation of Beijing Municipality

China Postdoctoral Science Foundation

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Developmental Biology

Link

https://link.springer.com/content/pdf/10.1186/s13619-022-00116-9.pdf

Reference9 articles.

1. Betters E, Liu Y, Kjaeldgaard A, Sundström E, et al. Analysis of early human neural crest development. Dev Biol. 2010;344(2):578–92. https://doi.org/10.1016/j.ydbio.2010.05.012.

2. Buchan JG, Alvarado DM, Haller GE, et al. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Hum Mol Genet. 2014;23(19):5271–82. https://doi.org/10.1093/hmg/ddu224.

3. Di Gioia SA, Shaaban S, Tüysüz B, et al. Recessive MYF5 mutations cause external ophthalmoplegia, rib, and vertebral anomalies. Am J Hum Genet. 2018;103(1):115–24. https://doi.org/10.1016/j.ajhg.2018.05.003.

4. Feichtinger RG, Mucha BE, Hengel H, et al. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med Off J Am Coll Med Genet. 2019;21(11):2521–31. https://doi.org/10.1038/s41436-019-0532-z.

5. Herkert JC, Verhagen JMA, Yotti R, et al. Expanding the clinical and genetic spectrum of ALPK3 variants: phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. Am Heart J. 2020;225:108–19. https://doi.org/10.1016/j.ahj.2020.03.023.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3