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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Detalles Bibliográficos
Autores principales: Wagner, Brandon M., Robinson, Jerid W., Lin, Yun-Wen, Lee, Yi-Ching, Kaci, Nabil, Legeai-Mallet, Laurence, Potter, Lincoln R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8262296/
https://www.ncbi.nlm.nih.gov/pubmed/33784257
http://dx.doi.org/10.1172/jci.insight.147832

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