Article
Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.
EMBO molecular medicine - 1 Apr 2016
Dauber Andrew, Muñoz-Calvo María T, Barrios Vicente, Domené Horacio M, Kloverpris Soren, Serra-Juhé Clara, Desikan Vardhini, Pozo Jesús, Muzumdar Radhika, Martos-Moreno Gabriel Á, Hawkins Federico, Jasper Héctor G, Conover Cheryl A, Frystyk Jan, Yakar Shoshana, Hwa Vivian, Chowen Julie A, Oxvig Claus, Rosenfeld Ron G, Pérez-Jurado Luis A, Argente Jesús
Abstract excerpt
Mutations in multiple genes of the growth hormone/IGF-I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high-affinity IGF-binding proteins (IGFBPs) or their regulators, such as the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) that is hypothesized to increase IGF-I bioactivity by specific proteolytic...
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