Prevention of guanylyl cyclase–B dephosphorylation rescues achondroplastic dwarfism

Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) or inactivating mutations in guanylyl cyclase–B (GC-B), also known as NPR-B or Npr2, cause short-limbed dwarfism. FGFR3 activation causes dephosphorylation and inactivation of GC-B, but the contribution of GC-B dephosphorylation...

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Udgivet i:JCI Insight
Main Authors: Wagner, Brandon M., Robinson, Jerid W., Lin, Yun-Wen, Lee, Yi-Ching, Kaci, Nabil, Legeai-Mallet, Laurence, Potter, Lincoln R.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2021
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8262296/
https://ncbi.nlm.nih.gov/pubmed/33784257
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.147832
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