Disruption of the c‐terminal serine protease domain of Fam111a does not alter calcium homeostasis in mice

Abstract FAM111A gene mutations cause Kenney–Caffey syndrome (KCS) and Osteocraniostenosis (OCS), conditions characterized by short stature, low serum ionized calcium (Ca2+), low parathyroid hormone (PTH), and bony abnormalities. The molecular mechanism mediating this phenotype is unknown. The c‐ter...

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主要な著者:	Rebecca Siu Ga Tan, Christy Hui Lin Lee, Wanling Pan, Serene Wohlgemuth, Michael R. Doschak, R. Todd Alexander
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2024-05-01
シリーズ:	Physiological Reports
主題:	calcium FAM111A Kenney–Caffey syndrome Osteocraniostenosis
オンライン･アクセス:	https://doi.org/10.14814/phy2.15977
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