ESPE Yearbook of Paediatric Endocrinology

Abstract: Endocrinology. 2018 Mar 1;159(3):1469–1478.In brief: In this article, a combination of microdissection, miroRNA profiling and transfection studies identify 3 microRNAs that are highly expressed in the proliferative zone and appear to be down-stream mediators of PTHrP signaling in the growth plate.Comment: In the growth plate, P...

In Brief: These authors identify a frameshift truncating variant in the gene SPIN4 (Spindlin member 4) in a patient with skeletal overgrowth, hepatosplenomegaly and macrocephaly. Using state-of-the-art mouse models and histone peptide arrays, they delineate the underlying pathogenic mechanism and show that SPIN4 positively regulates Wnt signalling by functioning as an epigenetic reader.Commentary: Generalized overgrowth disorders are ch...

Abstract: PLoS Biol. 2018 Jul 23;16(7):e2005263.In brief: In this article, Lui et al, make important observations related to the fundamental limits of longitudinal bone growth implicating the growth plate senescence program as a major regulator of bone size.Comment: A person’s right and left arms almost always grow to the same length, bu...

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...