MAGED2 Is Required under Hypoxia for cAMP Signaling by Inhibiting MDM2-Dependent Endocytosis of G-Alpha-S

Mutations in MAGED2 cause transient Bartter syndrome characterized by severe renal salt wasting in fetuses and infants, which leads to massive polyhydramnios causing preterm labor, extreme prematurity and perinatal death. Notably, this condition resolves spontaneously in parallel with developmental...

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主要な著者: Seaayfan, Elie, Nasrah, Sadiq, Quell, Lea, Kleim, Maja, Weber, Stefanie, Meyer, Hemmo, Laghmani, Kamel, Kömhoff, Martin
フォーマット: 論文
言語:英語
出版事項: Philipps-Universität Marburg 2022
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