Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Journal
Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086
Informations de publication
Date de publication:
16 Oct 2024
16 Oct 2024
Historique:
medline:
16
10
2024
pubmed:
16
10
2024
entrez:
16
10
2024
Statut:
ppublish
Résumé
Idiopathic osteoporosis (IOP) is a rare form of early-onset osteoporosis diagnosed in patients with no known metabolic or hormonal cause of bone loss and unknown pathogenesis. Patients with IOP commonly report both childhood fractures and family history of osteoporosis, raising the possibility of genetic etiologies of IOP. Whole-exome sequencing analyses of different IOP cohorts identified multiple variants in melatonin receptor 1A (
Identifiants
pubmed: 39413162
doi: 10.1126/scitranslmed.adj0085
doi:
Substances chimiques
Receptor, Melatonin, MT1
0
MTNR1A protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM