ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2021

ey0018.5-8 | Translational highlights | ESPEYB18

5.8. Hormonal regulation of biomineralization

Arnold Andrew , Dennison Elaine , Kovacs Christopher S , Mannstadt Michael , Rizzoli Rene , Brandi Maria Luisa , Clarke Bart , Thakker Rajesh V

Nat Rev Endocrinol. 2021 May;17(5):261–275 Abstract: brief: This article systematically reviews the current advances in the understanding of mineral metabolism with focus on the regulation of mineralization in skeletal tissue and inhibition of mineralization in non-skeletal tissue. This is mandatory reading for any aspiring endocrino...

ey0018.5-9 | Translational highlights | ESPEYB18

5.9. Articular cartilage regeneration by activated skeletal stem cells

Murphy Matthew P , Koepke Lauren S , Lopez Michael T , Tong Xinming , Ambrosi Thomas H , Gulati Gunsagar S , Marecic Owen , Wang Yuting , Ransom Ryan C , Hoover Malachia Y , Steininger Holly , Zhao Liming , Walkiewicz Marcin P , Quarto Natalina , Levi Benjamin , Wan Derrick C , Weissman Irving L , Goodman Stuart B , Yang Fan , Longaker Michael T , Chan Charles K F

Nat Med. 2020 Oct;26(10):1583–1592 Abstract: brief: Improved treatments for osteoarthritis and other degenerative joint diseases are urgently needed. This study demonstrates, for the first time, that the synovial microenvironment can be modified to allow resident skeletal stem cells to form hyaline articular cartilage and thereby reg...

ey0018.5-10 | Translational highlights | ESPEYB18

5.10. Single cell transcriptomic analysis of human pluripotent stem cell chondrogenesis

Wu Chia-Lung , Dicks Amanda , Steward Nancy , Tang Ruhang , Katz Dakota B , Choi Yun-Rak , Guilak Farshid

Nat Commun. 2021 Jan 13;12(1):362 Abstract: brief: Heterogenous differentiation patterns and low yields limit the use of human induced pluripotent stem cells (hiPSCs) for the generation of cartilage. In the present work, bulk- and single cell RNA sequencing during chondrogenic differentiation were used to identify regulatory networks resp...

ey0018.5-11 | Translational highlights | ESPEYB18

5.11. Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype

Tonelli F , Cotti S , Leoni L , Besio R , Gioia R , Marchese L , Giorgetti S , Villani S , Gistelinck C , Wagener R , Kobbe B , Fiedler I A K , Larionova D , Busse B , Eyre D , Rossi A , Witten P E , Forlino A

Matrix Biol. 2020 Aug;90:40–60 Abstract: brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...