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Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature

Natriuretic peptide receptor 2 (NPR2) plays a key role in cartilage and bone morphogenesis. The NPR2 gene mutations result in acromesomelic dysplasia, Maroteaux type (AMDM), short stature with nonspecific skeletal abnormalities (SNSK), and epiphyseal chondrodysplasia, Miura type (ECDM). However, the...

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Detalles Bibliográficos
Autores principales: Li, Qiuyue, Fan, Xin, Lu, Wei, Sun, Chengjun, Pei, Zhou, Zhang, Miaoying, Ni, Jinwen, Wu, Jing, Yu, Fa-Xing, Luo, Feihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024524/
https://www.ncbi.nlm.nih.gov/pubmed/35455946
http://dx.doi.org/10.3390/cells11081265