Disruption of the c-terminal serine protease domain of Fam111a does not alter calcium homeostasis in mice.
FAM111A
Kenney–Caffey syndrome
Osteocraniostenosis
calcium
Journal
Physiological reports
ISSN: 2051-817X
Titre abrégé: Physiol Rep
Pays: United States
ID NLM: 101607800
Informations de publication
Date de publication:
May 2024
May 2024
Historique:
revised:
28
02
2024
received:
31
12
2023
accepted:
01
03
2024
medline:
3
5
2024
pubmed:
3
5
2024
entrez:
2
5
2024
Statut:
ppublish
Résumé
FAM111A gene mutations cause Kenney-Caffey syndrome (KCS) and Osteocraniostenosis (OCS), conditions characterized by short stature, low serum ionized calcium (Ca
Substances chimiques
Calcium
SY7Q814VUP
Parathyroid Hormone
0
Serine Proteases
EC 3.4.-
iRhom2 protein, mouse
0
Carrier Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e15977Subventions
Organisme : Gouvernement du Canada | Canadian Institutes of Health Research (IRSC)
ID : 166072
Organisme : Women and Childrens Health Research Institute
ID : 12345
Informations de copyright
© 2024 The Authors. Physiological Reports published by Wiley Periodicals LLC on behalf of The Physiological Society and the American Physiological Society.
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