Ontology highlight
ABSTRACT:
SUBMITTER: Lorget F
PROVIDER: S-EPMC3516592 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Lorget Florence F Kaci Nabil N Peng Jeff J Benoist-Lasselin Catherine C Mugniery Emilie E Oppeneer Todd T Wendt Dan J DJ Bell Sean M SM Bullens Sherry S Bunting Stuart S Tsuruda Laurie S LS O'Neill Charles A CA Di Rocco Federico F Munnich Arnold A Legeai-Mallet Laurence L
American journal of human genetics 20121129 6
Achondroplasia (ACH), the most common form of dwarfism, is an inherited autosomal-dominant chondrodysplasia caused by a gain-of-function mutation in fibroblast-growth-factor-receptor 3 (FGFR3). C-type natriuretic peptide (CNP) antagonizes FGFR3 downstream signaling by inhibiting the pathway of mitogen-activated protein kinase (MAPK). Here, we report the pharmacological activity of a 39 amino acid CNP analog (BMN 111) with an extended plasma half-life due to its resistance to neutral-endopeptidas ...[more]