Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.
75dup27
MOUSE MODEL
OSTEOCLAST
PAGET'S DISEASE OF BONE
RANK
Journal
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
ISSN: 1523-4681
Titre abrégé: J Bone Miner Res
Pays: United States
ID NLM: 8610640
Informations de publication
Date de publication:
07 2021
07 2021
Historique:
revised:
06
03
2021
received:
29
03
2020
accepted:
11
03
2021
pubmed:
17
3
2021
medline:
10
8
2021
entrez:
16
3
2021
Statut:
ppublish
Résumé
Early onset familial Paget's disease of bone (EoPDB), familial expansile osteolysis, and expansile skeletal hyperphosphatasia are related disorders caused by insertion mutations in exon 1 of the TNFRSF11A gene, which encodes receptor activator of nuclear factor κB (RANK) protein. To understand the mechanisms underlying these disorders, we developed a mouse model carrying the 75dup27 mutation which causes EoPDB. Mice heterozygous for the mutation (Tnfrsf11a
Substances chimiques
RANK Ligand
0
Receptor Activator of Nuclear Factor-kappa B
0
TNFRSF11A protein, human
0
Tnfrsf11a protein, mouse
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1376-1386Subventions
Organisme : Medical Research Council
ID : MR/P020941/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0800933/87390
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 060829/Z/00Z
Pays : United Kingdom
Informations de copyright
© 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
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