ESPE Yearbook of Paediatric Endocrinology

J Bone Miner Res. 2022 Feb;37(2):179-184.Abstract: https://pubmed-ncbi-nlm-nih-gov/34464000/In Brief: Fibroblast growth factor 23 (FGF23) and parathyroid hormone (PTH) both negatively regulate serum phosphate by increasing renal phosphate excretion. The clinical observation that both PTH and FGF23 are needed for adequate renal phosphate handling is confirmed in this experimental patient stu...

J Bone Miner Res. 2021 Aug;36(8):1594-1604.Abstract: https://pubmed-ncbi-nlm-nih-gov/33900645/In Brief: Enzyme replacement therapy with human ENPP1-Fc protein in Enpp1asj/asj mice, a murine model of ENPP1 deficiency, restored circulating levels of PPi, prevented clinical manifestations and decreased mortality.Commentary: ENPP1 deficiency causes gen...

J Clin Endocrinol Metab. 2022 Jan 1;107(1):109-118.Abstract: https://pubmed-ncbi-nlm-nih-gov/34498693/In Brief: This study established a standard range of Inorganic Pyrophosphate (PPi) between 2.36 and 4.44 µM (5th-95th percentiles) in the blood plasma of children and adolescents aged 0 to 18 years, using the ATP sulfurylase assay. There was no sex difference and the range is similar t...

J Bone Miner Res 36, 1387–1402. (2021)Abstract: https://pubmed-ncbi-nlm-nih-gov/33724538/In brief: Premature growth plate closure under anti-hedgehog treatment is caused by impaired retinoic acid metabolism in growth plate progenitor cells. In this mouse model, administration of retinoic acid receptor blockers rescued the phenotype and normalized growth plate maturation.<p class="a...

Endocrinology 163, bqac005. (2022).Abstract: https://pubmed-ncbi-nlm-nih-gov/35041746/In Brief: C-type natriuretic peptide (CNP) is known to stimulate enchondral bone formation, but the distinct cellular pathways and cellular targets are unclear. This study used in vivo and in vitro biosensor systems to identify cGMP-induced activation of PKA as a major effect of CNP with growth promoting e...

Hum Mol Genet ddac107 (2022)Abstract: https://pubmed.ncbi.nlm.nih.gov/35567544/In Brief: Disproportionate tall stature represents a hallmark feature of Marfan syndrome, although specific mechanisms underlying linear bone overgrowth are unclear. This study used an ex vivo model system to identify dysregulation of TGFβ-binding proteins in the outer perichondrium as causative for the bon...