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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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| Yayımlandı: | FEBS Open Bio |
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| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2020
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| Konular: | |
| Online Erişim: | 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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