Page 23 - Read Online
P. 23

Jafri et al. J Transl Genet Genom 2022;6:281-9      https://dx.doi.org/10.20517/jtgg.2021.63  Page 289

               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.  DOI  PubMed  PMC
               9.       Gregson CL, Duncan EL. The genetic architecture of high bone mass. Front Endocrinol (Lausanne) 2020;11:595653.  DOI  PubMed
                   PMC
               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.  DOI  PubMed  PMC
               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.  DOI  PubMed
               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.  DOI  PubMed  PMC
               13.      Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature
                   :434-43.  DOI  PubMed  PMC
               14.      Khosla S, Oursler MJ, Monroe DG. Estrogen and the skeleton. Trends Endocrinol Metab 2012;23:576-81.  DOI  PubMed  PMC
               15.      Seifert-Klauss V, Prior JC. Progesterone and bone: actions promoting bone health in women. J Osteoporos 2010;2010:845180.  DOI
                   PubMed  PMC
               16.      Prior JC. Progesterone as a bone-trophic hormone. Endocr Rev 1990;11:386-98.  DOI  PubMed
               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.  DOI  PubMed
               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.  DOI  PubMed
               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.
                   DOI  PubMed  PMC
               20.      Gahl WA, Tifft CJ. The NIH undiagnosed diseases program: lessons learned. JAMA 2011;305:1904-5.  DOI  PubMed
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