The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Dec. 05, 2017
Filed:
Dec. 19, 2014
Inserm (Institut National DE LA Sante ET DE LA Recherche Medicale), Paris, FR;
Universite Paris Descartes, Paris OT, FR;
Assistance Publique-hopitaux DE Paris (Ap-hp), Paris OT, FR;
Valerie Cormier-Daire, Paris, FR;
Arnold Munnich, Paris, FR;
INSERM (Institut National de la Sante et de la Recherche Medicale), Paris, FR;
Universite Paris Descartes, Paris, FR;
Assistance Publique—Hopitaux de Paris (AP-HP), Paris, FR;
Abstract
Described herein are methods of the treatment and diagnosis of bone mineral density related disorders. More particularly, described herein are methods of diagnosing or predicting a bone mineral density related disease, or a risk of a bone mineral density related disease, in a subject, which method comprises detecting a mutation in the TBXAS1 gene, wherein the presence of such a mutation is indicative of a bone mineral density related disease or of a risk of a bone mineral density related disease. Also described are compounds such as a thromboxane synthase (TXAS) encoding polynucleotide, a TXAS, thromboxane A2 or an analog thereof for treating or preventing a disease associated with an increased bone mineral density (e.g., Ghosal hematodiaphyseal dysplasia syndrome). Additional aspects describe an inhibitor of TBXAS1 gene expression or a thromboxane inhibitor for treating or preventing a disease associated with a decreased bone mineral density (e.g., osteoporosis).