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
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

Pagination

eadj0085

Auteurs

Brygida Bisikirska (B)

Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY 10032, USA.

Rossella Labella (R)

Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY 10032, USA.

Alvaro Cuesta-Dominguez (A)

Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY 10032, USA.

Na Luo (N)

Department of Genetics and Development, Columbia University Medical Center, New York, NY 10032, USA.

Jessica De Angelis (J)

Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY 10032, USA.

Ioanna Mosialou (I)

Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY 10032, USA.

Chyuan-Sheng Lin (CS)

Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA.

David Beck (D)

New York University Grossman School of Medicine, New York, NY 10012, USA.

Sneh Lata (S)

Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.

Peter Timothy Shyu (PT)

Department of Biomedical Engineering, Columbia University, New York, NY 10027, USA.

Donald J McMahon (DJ)

Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.

Edward Guo (E)

Department of Biomedical Engineering, Columbia University, New York, NY 10027, USA.

Jacob Hagen (J)

Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.

Wendy K Chung (WK)

Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.

Elizabeth Shane (E)

Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.

Adi Cohen (A)

Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA.

Stavroula Kousteni (S)

Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY 10032, USA.

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Classifications MeSH