Hendrickx, G., Boudin, E. & Van Hul, W. A look behind the scenes: the risk and pathogenesis of primary osteoporosis. Nat. Rev. Rheumatol. 11, 462–474 (2015).
NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy. Osteoporosis prevention, diagnosis, therapy. JAMA 285, 785–795 (2001).
Bergen, D. J. M. et al. High bone mass disorders: new insights from connecting the clinic and the bench. J. Bone Miner. Res. 38, 229–247 (2020).
Whyte, M. P. Misinterpretation of osteodensitometry with high bone density: BMD Z ≥+2.5 is not “normal”. J. Clin. Densitom. 8, 1–6 (2005).
Pocock, N. A. et al. Genetic determinants of bone mass in adults. A twin study. J. Clin. Invest. 80, 706–710 (1987).
Article CAS PubMed PubMed Central Google Scholar
Morris, J. A. et al. An atlas of genetic influences on osteoporosis in humans and mice. Nat. Genet. 51, 258–266 (2019).
Article CAS PubMed Google Scholar
Unger, S. et al. Nosology of genetic skeletal disorders: 2023 revision. Am. J. Med. Genet. A 191, 1164–1209 (2023).
Article PubMed PubMed Central Google Scholar
Huybrechts, Y., Mortier, G., Boudin, E. & Van Hul, W. WNT signaling and bone: lessons from skeletal dysplasias and disorders. Front. Endocrinol.11, 165 (2020).
Wehrli, M. et al. arrow encodes an LDL-receptor-related protein essential for wingless signalling. Nature 407, 527–530 (2000).
Article CAS PubMed Google Scholar
Bhanot, P. et al. A new member of the frizzled family from Drosophila functions as a wingless receptor. Nature 382, 225–230 (1996).
Article CAS PubMed Google Scholar
Nampoothiri, S. et al. Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. Am. J. Med. Genet. A 179, 908–914 (2019).
Article CAS PubMed Google Scholar
Laine, C. M. et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N. Engl. J. Med. 368, 1809–1816 (2013).
Article CAS PubMed PubMed Central Google Scholar
Wang, F. et al. Mesenchymal cell-derived juxtacrine wnt1 signaling regulates osteoblast activity and osteoclast differentiation. J. Bone Miner. Res. 34, 1129–1142 (2019).
Article CAS PubMed PubMed Central Google Scholar
Keupp, K. et al. Mutations in WNT1 cause different forms of bone fragility. Am. J. Hum. Genet. 92, 565–574 (2013).
Article CAS PubMed PubMed Central Google Scholar
Beighton, P., Barnard, A., Hamersma, H. & van der Wouden, A. The syndromic status of sclerosteosis and van Buchem disease. Clin. Genet. 25, 175–181 (1984).
Article CAS PubMed Google Scholar
Brunkow, M. E. et al. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am. J. Hum. Genet. 68, 577–589 (2001).
Article CAS PubMed PubMed Central Google Scholar
Li, X. et al. Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling. J. Biol. Chem. 280, 19883–19887 (2005).
Article CAS PubMed Google Scholar
Leupin, O. et al. Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. J. Biol. Chem. 286, 19489–19500 (2011).
Article CAS PubMed PubMed Central Google Scholar
Loots, G. G. et al. Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. Genome Res. 15, 928–935 (2005).
Article CAS PubMed PubMed Central Google Scholar
Kim, S. J. et al. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum. Genet. 129, 497–502 (2011).
Article CAS PubMed Google Scholar
Kiper, P. O. S. et al. Cortical-bone fragility — insights from sFRP4 deficiency in Pyle’s disease. N. Engl. J. Med. 374, 2553–2562 (2016).
Article CAS PubMed PubMed Central Google Scholar
Sowińska-Seidler, A. et al. The first report of biallelic missense mutations in the SFRP4 gene causing Pyle disease in two siblings. Front. Genet. 11, 593407 (2020).
Article PubMed PubMed Central Google Scholar
Gong, Y. et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107, 513–523 (2001).
Article CAS PubMed Google Scholar
Balemans, W. & Van Hul, W. The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes. Endocrinology 148, 2622–2629 (2007).
Article CAS PubMed Google Scholar
Balemans, W. et al. The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations. Calcif. Tissue Int. 82, 445–453 (2008).
Article CAS PubMed Google Scholar
Whyte, M. P. et al. New explanation for autosomal dominant high bone mass: mutation of low-density lipoprotein receptor-related protein 6. Bone 127, 228–243 (2019).
Article CAS PubMed Google Scholar
Little, R. D. 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. 70, 11–19 (2002).
Article CAS PubMed Google Scholar
Cheng, Z. et al. Crystal structures of the extracellular domain of LRP6 and its complex with DKK1. Nat. Struct. Mol. Biol. 18, 1204–1210 (2011).
Article CAS PubMed PubMed Central Google Scholar
Ohkawara, B. et al. LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum. Mol. Genet. 23, 1856–1868 (2014).
Article CAS PubMed Google Scholar
Huybrechts, Y. et al. Identification of compound heterozygous variants in LRP4 demonstrates that a pathogenic variant outside the third β-propeller domain can cause sclerosteosis. Genes 13, 80 (2021).
Article PubMed PubMed Central Google Scholar
Orford, K., Crockett, C., Jensen, J. P., Weissman, A. M. & Byers, S. W. Serine phosphorylation-regulated ubiquitination and degradation of β-catenin. J. Biol. Chem. 272, 24735–24738 (1997).
Article CAS PubMed Google Scholar
Comai, G. et al. Genetic and molecular insights into genotype-phenotype relationships in osteopathia striata with cranial sclerosis (OSCS) through the analysis of novel mouse Wtx mutant alleles. J. Bone Miner. Res. 33, 875–887 (2018).
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