REFERENCES

1. Baron R, Rawadi G. Targeting the Wnt/beta-catenin pathway to regulate bone formation in the adult skeleton. Endocrinology 2007;148:2635-43.

2. Krishnan V, Bryant HU, Macdougald OA. Regulation of bone mass by Wnt signaling. J Clin Invest 2006;116:1202-9.

3. Gong Y, Slee RB, Fukai N, et al. LDL Receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001;107:513-23.

4. Little RD, Carulli JP, Del Mastro RG, et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 2002;70:11-9.

5. Boyden LM, Mao J, Belsky J, et al. High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 2002;346:1513-21.

6. Bourhis E, Wang W, Tam C, et al. Wnt antagonists bind through a short peptide to the first β-propeller domain of LRP5/6. Structure 2011;19:1433-42.

7. Whyte MP, Reinus WH, Mumm S. High-bone-mass disease and LRP5. N Engl J Med 2004;350:2096-9; author reply 2096.

8. Gregson CL, Wheeler L, Hardcastle SA, et al. Mutations in known monogenic high bone mass loci only explain a small proportion of high bone mass cases. J Bone Miner Res 2016;31:640-9.

9. Gregson CL, Duncan EL. The genetic architecture of high bone mass. Front Endocrinol (Lausanne) 2020;11:595653.

10. Gahl WA, Markello TC, Toro C, et al. The national institutes of health undiagnosed diseases program: insights into rare diseases. Genet Med 2012;14:51-9.

11. Wang C, Zhang BH, Zhang H, et al. The A242T mutation in the low-density lipoprotein receptor-related protein 5 gene in one Chinese family with osteosclerosis. Intern Med 2013;52:187-92.

12. Van Wesenbeeck L, Cleiren E, Gram J, et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 2003;72:763-71.

13. Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature :434-43.

14. Khosla S, Oursler MJ, Monroe DG. Estrogen and the skeleton. Trends Endocrinol Metab 2012;23:576-81.

15. Seifert-Klauss V, Prior JC. Progesterone and bone: actions promoting bone health in women. J Osteoporos 2010;2010:845180.

16. Prior JC. Progesterone as a bone-trophic hormone. Endocr Rev 1990;11:386-98.

17. Balemans W, Devogelaer JP, Cleiren E, et al. Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling. J Bone Miner Res 2007;22:708-16.

18. Wilson AC, Meethal SV, Bowen RL, Atwood CS. Leuprolide acetate: a drug of diverse clinical applications. Expert Opin Investig Drugs 2007;16:1851-63.

19. Milani M, Jha G, Potter DA. Anastrozole use in early stage breast cancer of post-menopausal women. Clin Med Ther 2009;1:141-56.

20. Gahl WA, Tifft CJ. The NIH undiagnosed diseases program: lessons learned. JAMA 2011;305:1904-5.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/