ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2022

5. Bone, Growth Plate and Mineral Metabolism

Advances in skeletal biology

ey0019.5-15 | Advances in skeletal biology | ESPEYB19

5.15. Asymmetric activation of the calcium-sensing receptor homodimer

Y Gao , MJ Robertson , SN Rahman , AB Seven , C Zhang , JG Meyerowitz , O Panova , FM Hannan , RV Thakker , H Brauner-Osborne , JM Mathiesen , G Skiniotis

Nature. 2021 Jul;595(7867):455-459.Abstract: https://pubmed-ncbi-nlm-nih-gov/34194040/In brief: Using cryo-electron microscopy, the calcium-sensing receptor (CaSR) is visualized with different ligands demonstrating, in great detail, how calcimimetic drugs lock the CaSR homodimer in an assymetric configuration, exposing one of the two protomers for G-protein coupling, whereas calciolytic dru...

ey0019.5-16 | Advances in skeletal biology | ESPEYB19

5.16. Mineralization generates megapascal contractile stresses in collagen fibrils

Ping Hang , Wagermaier Wolfgang , Horbelt Nils , Scoppola Ernesto , Li Chenghao , Werner Peter , Fu Zhengyi , Fatzl Peter

Science 2022 Apr 8;376(6589):188-192.Abstract: https://pubmed-ncbi-nlm-nih-gov/35389802/In Brief: The unique composition of organic and inorganic components allows bone to have remarkable biomechanical properties. This in vitro study reveals the phenomena of large contractile forces during intrafibrillar mineralization explaining the unusual mechanical properties of bone tissue.</p...

ey0019.5-17 | Advances in skeletal biology | ESPEYB19

5.17. Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

P Wainschtein , D Jain , Z Zheng

TOPMed Anthropometry Working Group; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium et al. Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.Nat Genet. 2022 Mar;54(3):263-273.Abstract: brief: Genome-wide association studies (GWAS) on unrelated individuals rely...

ey0019.5-18 | Advances in skeletal biology | ESPEYB19

5.18. Genes with specificity for expression in the round cell layer of the growth plate are enriched in genome wide association study (GWAS) of human height

N.E Renthal , P Nakka , J.M Baronas , H.M Kronenberg , J.N. Hirschhorn

J Bone Miner Res 36, 2300–2308. (2021)Abstract: brief: The genetic basis of human body height is only partly understood. This study combined genome-wide association study (GWAS) data with expression data from specific chondrocyte populations to identify genes responsible for skeletal growth. They found strong a...