Cargando…
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis
Monogenic early onset osteoporosis (EOOP) is a rare disease defined by low bone mineral density (BMD) that results in increased risk of fracture in children and young adults. Although several causative genes have been identified, some of the EOOP causation remains unresolved. Whole-exome sequencing...
Autores principales: | Caetano da Silva, Caroline, Edouard, Thomas, Fradin, Melanie, Aubert-Mucca, Marion, Ricquebourg, Manon, Raman, Ratish, Salles, Jean Pierre, Charon, Valérie, Guggenbuhl, Pascal, Muller, Marc, Cohen-Solal, Martine, Collet, Corinne |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122655/ https://www.ncbi.nlm.nih.gov/pubmed/34875064 http://dx.doi.org/10.1093/hmg/ddab349 |
Ejemplares similares
-
More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A
por: Caetano da Silva, Caroline, et al.
Publicado: (2021) -
wnt11f2 Zebrafish, an Animal Model for Development and New Insights in Bone Formation
por: Caetano da Silva, Caroline, et al.
Publicado: (2023) -
Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes
por: Collet, Corinne, et al.
Publicado: (2017) -
Noncanonical Wnt5a enhances Wnt/β-catenin signaling during osteoblastogenesis
por: Okamoto, Masanori, et al.
Publicado: (2014) -
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
por: Aubert-Mucca, Marion, et al.
Publicado: (2021)