日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Vitamin C epigenetically controls osteogenesis and bone mineralization

维生素 C 表观遗传控制成骨和骨矿化

Roman Thaler, Farzaneh Khani, Ines Sturmlechner, Sharareh S Dehghani, Janet M Denbeigh, Xianhu Zhou, Oksana Pichurin, Amel Dudakovic, Sofia S Jerez, Jian Zhong, Jeong-Heon Lee, Ramesh Natarajan, Ivo Kalajzic, Yong-Hui Jiang, David R Deyle, Eleftherios P Paschalis, Barbara M Misof, Tamas Ordog, Andre

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling

功能验证表明,与 Loeys-Dietz 综合征 (LDS) 相关的 TGFBR2 中新的错义 V419L 变体会损害典型的 TGF-β 信号传导

Margot A Cousin, Michael T Zimmermann, Angela J Mathison, Patrick R Blackburn, Nicole J Boczek, Gavin R Oliver, Gwen A Lomberk, Raul A Urrutia, David R Deyle, Eric W Klee

Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs

基因靶向人类成骨不全症 iPSC 产生正常的胶原蛋白和骨骼

David R Deyle, Iram F Khan, Gaoying Ren, Pei-Rong Wang, Jordan Kho, Ulrike Schwarze, David W Russell