Article
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
American journal of human genetics - 2 Aug 2018
Boudin Eveline, de Jong Tjeerd R, Prickett Tim C R, Lapauw Bruno, Toye Kaatje, Van Hoof Viviane, Luyckx Ilse, Verstraeten Aline, Heymans Hugo S A, Dulfer Eelco, Van Laer Lut, Berry Ian R, Dobbie Angus, Blair Ed, Loeys Bart, Espiner Eric A, Wit Jan M, Van Hul Wim, Houpt Peter, Mortier Geert R
Abstract excerpt
The natriuretic peptide signaling pathway has been implicated in many cellular processes, including endochondral ossification and bone growth. More precisely, different mutations in the NPR-B receptor and the CNP ligand have been identified in individuals with either short or tall stature. In this study we show that the NPR-C receptor (encoded by NPR3) is also important for the regulation of linear bone growth....
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