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A Gain-of-Function Mutation in Tnni2 Impeded Bone Development through Increasing Hif3a Expression in DA2B Mice

Distal arthrogryposis type 2B (DA2B) is an important genetic disorder in humans. However, the mechanisms governing this disease are not clearly understood. In this study, we generated knock-in mice carrying a DA2B mutation (K175del) in troponin I type 2 (skeletal, fast) (TNNI2), which encodes a fast...

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Detalles Bibliográficos
Autores principales: Zhu, Xiaoquan, Wang, Fengchao, Zhao, Yanyang, Yang, Peng, Chen, Jun, Sun, Hanzi, Liu, Lei, Li, Wenjun, Pan, Lin, Guo, Yanru, Kou, Zhaohui, Zhang, Yu, Zhou, Cheng, He, Jiang, Zhang, Xue, Li, Jianxin, Han, Weitian, Li, Jian, Liu, Guanghui, Gao, Shaorong, Yang, Ze
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207604/
https://www.ncbi.nlm.nih.gov/pubmed/25340332
http://dx.doi.org/10.1371/journal.pgen.1004589