CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage

Desbuquois dysplasia (DD) type 1 is a rare skeletal dysplasia characterized by a short stature, round face, progressive scoliosis, and joint laxity. The causative gene has been identified as calcium‐activated nucleotidase 1 (CANT1), which encodes a nucleotidase that preferentially hydrolyzes UDP to...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:FEBS Open Bio
Main Authors: Kodama, Kazuki, Takahashi, Hiroaki, Oiji, Nobuyasu, Nakano, Kenta, Okamura, Tadashi, Niimi, Kimie, Takahashi, Eiki, Guo, Long, Ikegawa, Shiro, Furuichi, Tatsuya
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Research Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7262921/
https://ncbi.nlm.nih.gov/pubmed/32277574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/2211-5463.12859
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