Context: Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that
specifically cleaves IGFBP-3 and IGFBP-5. Mutations in the PAPP-A2 gene have recently …

Context The pregnancy-associated plasma protein A2 (PAPP-A2) cleaves insulinlike growth
factor binding proteins 3 and 5, releasing free insulinlike growth factor 1 (IGF-1) …

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 …

In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by
biallelic loss‐of‐function mutations in the gene encoding the metalloproteinase pregnancy …

Bioactive free IGF-I is critically important for growth. The bioavailability of IGF-I is modulated
by the IGF-binding proteins (IGFBPs) and their proteases, such as pregnancy-associated …

Objective Pregnancy-associated plasma protein-A2 (PAPP-A2) is a metalloproteinase that
cleaves IGFBP-3 and IGFBP-5. Human mutations in PAPPA2 result in short stature with a …

Growth hormone (GH) and its mediator, insulin-like growth factor-1 (IGF-1), have long been
recognized as central to human growth physiology. IGF-1 is known to complex with IGF …

The growth hormone (GH)/insulin-like growth factor (IGF) axis plays fundamental roles
during development, maturation, and aging. Members of this axis, composed of various …

The discovery of a mutation in a specific gene can be very important for determining the
pathophysiology underlying the disease of a patient and may also help to decide the best …

Firstly discovered as a placental protein present abundantly in the circulation of pregnant
women, pregnancy-associated plasma protein-A (PAPP-A) is widely expressed in multiple …