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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Open accessAbstract
Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients. By linkage analysis in one extended van Buchem family and two consanguineous sclerosteosis families we previously mapped both disease genes to the same chromosomal 17q12-q21 region, supporting the hypothesis that both conditions are caused by mutations in the same gene. After reducing the disease critical region to approximately 1 Mb, we used the positional cloning strategy to identify the SOST gene, which is mutated in sclerosteosis patients. This new gene encodes a protein with a signal peptide for secretion and a cysteine-knot motif. Two nonsense mutations and one splice site mutation were identified in sclerosteosis patients, but no mutations were found in a fourth sclerosteosis patient nor in the patients from the van Buchem family. As the three disease-causing mutations lead to loss of function of the SOST protein resulting in the formation of massive amounts of normal bone throughout life, the physiological role of SOST is most likely the suppression of bone formation. Therefore, this gene might become an important tool in the development of therapeutic strategies for osteoporosis.
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“Inactivating mutations of this gene can produce the high-bone-mass disorder Van Buchem disease or sclerosteosis”
From Pathogenesis of osteoporosis: concepts, conflicts, and prospects (2005) · cites this paper as [73]
Experimental — accuracy not yet measuredIn the citing paper
“Mutations in genes that have highly enriched expression in osteocytes cause rare bone and mineral disorders.”
From Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease (2021) · cites this paper as [18]
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Citations
Cites
The Pfam Protein Families Database
Bateman, A. G. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.276 · Cited by 14,075
Predicting subcellular localization of proteins based on their N-terminal amino acid sequence.
Emanuelsson, O., Nielsen, H., Brunak, S., & von Heijne, G. (2000) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.3903 · Cited by 4,419
Shapiro, M. B., & Senapathy, P. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7155 · Cited by 2,313
The Pfam Protein Families Database
Bateman, A. G. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.1.263 · Cited by 1,262
Crystal structure of human chorionic gonadotropin
Lapthorn, A. J., Harris, D. C., Littlejohn, A. H., Lustbader, J. W., Canfield, R. E., Machin, K. J., Morgan, F. J., & Isaacs, N. W. (1994) · Nature · doi:10.1038/369455a0 · Cited by 933
Hsu, D. R., Economides, A. N., Wang, X., Eimon, P. M., & Harland, R. M. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80067-2 · Cited by 648
Peer Bork, B. (1993) · FEBS Letters · doi:10.1016/0014-5793(93)80155-n · Cited by 623
The Connective Tissue Growth Factor/Cysteine- Rich 61/Nephroblastoma Overexpressed (CCN) Family
Brigstock, D. R. (1999) · Endocrine Reviews · doi:10.1210/edrv.20.2.0360 · Cited by 588
A structural superfamily of growth factors containing a cystine knot motif
McDonald, N. Q., & Hendrickson, W. A. (1993) · Cell · doi:10.1016/0092-8674(93)90127-c · Cited by 532
Position effect in human genetic disease
Kleinjan, D. A. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.10.1611 · Cited by 370
Flagged first, then by citations
Research works printed but not linked: 2
- Witkop, C.J. (1965) Genetic diseases of the oral cavity. In Tiecke, R.W. (ed.), Oral Pathology. McGraw-Hill, New York, NY, pp. 834-843.
- Van Buchem, F.S.P., Prick, J.J.G. and Jaspar, H.H.J. (1976) Hyperostosis corticalis generalisata familiaris (van Buchem's disease). In Excerpta Medica. American Elsevier Publishing, New York, NY, pp. 1-205.
Cited by
Sorted by citations
Items 201–300 of 999
Antiresorptive and anabolic agents in the prevention and reversal of bone fragility
Seeman, E., & Martin, T. J. (2019) · Nature Reviews Rheumatology · doi:10.1038/s41584-019-0172-3 · Cited by 127
van Lierop, A. H., Hamdy, N. A. T., van Egmond, M. E., Bakker, E., Dikkers, F. G., & Papapoulos, S. E. (2012) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1794 · Cited by 124
Signaling network regulating osteogenesis in mesenchymal stem cells
Thomas, S., & Jaganathan, B. G. (2021) · Journal of Cell Communication and Signaling · doi:10.1007/s12079-021-00635-1 · Cited by 134
Piters, E., Boudin, E., & Hul, W. V. (2008) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2008.03.006 · Cited by 126
Ryan, Z. C., Ketha, H., McNulty, M. S., McGee‐Lawrence, M. E., Craig, T. A., Grande, J. P., Westendorf, J. J., Singh, R. J., & Kumar, R. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1221255110 · Cited by 123
“Inactivating mutations in the human sclerostin gene (SOST) are associated with sclerosteosis (Mendelian Inheritance in Man, MIM 269500) or van Buchem disease (MIM 239100) (6), both of which are characterized by progressive overgrowth and sclerosis of the axial and appendicular skeleton and an increase in bone mineral…”
BackgroundWNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders
Huybrechts, Y., Mortier, G. R., Boudin, E., & Hul, W. V. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00165 · Cited by 123
“On the other hand, the influence of canonical WNT signaling on bone mass was highlighted by unraveling the underlying pathogenic mechanisms of disorders with a progressively increasing bone mass such as sclerosteosis, Van Buchem disease, and high bone mass phenotypes (osteosclerosis) (51, 53, 57, 107, 113).”
BackgroundBrancati, F., Fortugno, P., Bottillo, I., Lopez, M., Josselin, E., Boudghène-Stambouli, O., Agolini, E., Bernardini, L., Bellacchio, E., Iannicelli, M., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.003 · Cited by 127
Molecular-Based Treatment Strategies for Osteoporosis: A Literature Review
Ukon, Y., Makino, T., Kodama, J., Tsukazaki, H., Tateiwa, D., Yoshikawa, H., & Kaito, T. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20102557 · Cited by 121
Lintern, K., Guidato, S., Rowe, A., Saldanha, J. W., & Itasaki, N. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.025478 · Cited by 122
Is Wnt signalling the final common pathway leading to bone formation?
Milat, F., & Ng, K. W. (2009) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2009.06.002 · Cited by 123
Chang, M.-K., Krämer, I., Huber, T., Kinzel, B., Guth, S., Leupin, O., & Kneissel, M. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1413828111 · Cited by 124
“Keller H, Kneissel M (2005) SOST is a target gene for PTH in bone.”
BackgroundInfluentialRaisz, L. G., & Rodan, G. A. (2003) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(02)00055-5 · Cited by 122
“A mutation in a novel protein, sclerostin, which inhibits bone formation by suppressing BMP activity, recently was identified in another set of families with high bone mass [49].”
BackgroundSerum Sclerostin and Risk of Hip Fracture in Older Caucasian Women
Arasu, A., Cawthon, P. M., Lui, L., Do, T. P., Arora, P. S., Cauley, J. A., Ensrud, K. E., & Cummings, S. R. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-3419 · Cited by 119
“been identified in patients with the autosomal recessive conditions sclerosteosis and van Buchem disease (8, 9).”
BackgroundHypoxia decreases sclerostin expression and increases Wnt signaling in osteoblasts
Genetos, D. C., Toupadakis, C. A., Raheja, L. F., Wong, A., Papanicolaou, S. E., Fyhrie, D. P., Loots, G. G., & Yellowley, C. E. (2010) · Journal of Cellular Biochemistry · doi:10.1002/jcb.22559 · Cited by 119
“E-mail: dgenetos@ucdavis.edu eceived 30 September 2009; Accepted 1 February 2010 DOI 10.1002/j ublished online 24 March 2010 in Wiley InterScience (www.interscience inhibitor of bone formation [Balemans et al., 1999, 2001].”
BackgroundInfluentialSclerostin: A gem from the genome leads to bone-building antibodies
Pászty, C., Turner, C. H., & Robinson, M. K. (2010) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.161 · Cited by 120
“Against this backdrop came the exciting news, independently from Mary Brunkow’s group at Celltech R&D, Inc.,(7,8) and from Wim Van Hul’s group at the University of Antwerp,(9) that sclerosteosis was caused by mutations in a single gene (SOST) encoding a novel secreted protein.”
BackgroundHamann, C., Rauner, M., Höhna, Y., Bernhardt, R., Mettelsiefen, J., Goettsch, C., Günther, K., Stolina, M., Han, C.-Y. E., Asuncion, F., et al. (2013) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1803 · Cited by 120
“Humans with inherited sclerostin deficiency, as in van Buchem disease and sclerosteosis, display a generalized increase of bonemass and strength and are protected against fractures.((14,15)) These bone-specific phenotypes provided the rationale to explore the effects of monoclonal antibodies against sclerostin.”
BackgroundGrowth factor control of bone mass
CANALIS, E. M. (2009) · Journal of Cellular Biochemistry · doi:10.1002/jcb.22322 · Cited by 122
“Both skeletal dysplasias are characterized by increased bone mass [Balemans et al., 2001; Loots et al., 2005].”
BackgroundRoles of Wnt signals in bone resorption during physiological and pathological states
Maeda, K., Takahashi, N., & Kobayashi, Y. (2012) · Journal of Molecular Medicine · doi:10.1007/s00109-012-0974-0 · Cited by 118
Emerging insights into the comparative effectiveness of anabolic therapies for osteoporosis
Estell, E. G., & Rosen, C. J. (2020) · Nature Reviews Endocrinology · doi:10.1038/s41574-020-00426-5 · Cited by 115
Appelman‐Dijkstra, N. M., & Papapoulos, S. E. (2015) · Drugs · doi:10.1007/s40265-015-0417-7 · Cited by 116
“SOST has been identified in the kidney, liver, and heart, but sclerostin expression has not been identified in any of these tissues in humans [45, 47, 48].”
BackgroundTGF-β Family Signaling in Connective Tissue and Skeletal DiseasesPreprint
MacFarlane, E. G., Haupt, J., Dietz, H. C., & Shore, E. M. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a022269 · Cited by 125
Calabrese, G. M., Mesner, L. D., Stains, J. P., Tommasini, S. M., Horowitz, M. C., Rosen, C. J., & Farber, C. R. (2016) · Cell Systems · doi:10.1016/j.cels.2016.10.014 · Cited by 111
“…and sclerostin (SOST), which are among the best-known and most well-characterized genes involved in the regulation of osteoblast-lineage cells and BMD (Balemans et al., 2001; Brunkow et al., 2001; Gong et al., 2001; Little et al., 2002; Nakashima et al., 2002; Simonet et al., 1997).”
BackgroundPhysiological and Pharmacological Roles of PTH and PTHrP in Bone Using Their Shared Receptor, PTH1R
Martin, T. J., Sims, N. A., & Seeman, E. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab005 · Cited by 118
Ishibashi, H., Crittenden, D. B., Miyauchi, A., Libanati, C. R., Maddox, J., Fan, M., Chen, L., & Grauer, A. (2017) · Bone · doi:10.1016/j.bone.2017.07.005 · Cited by 110
Promising bone-related therapeutic targets for rheumatoid arthritis
Choi, Y., Arron, J. R., & Townsend, M. J. (2009) · Nature Reviews Rheumatology · doi:10.1038/nrrheum.2009.175 · Cited by 111
“Inherited genetic mutation of the SOST gene (which encodes sclerostin in humans) results in sclerosteosis, a progressive bone dysplasia disorder”
BackgroundLyons, J. S., Joca, H. C., Law, R. A., Williams, K. M., Kerr, J. P., Shi, G., Khairallah, R. J., Martin, S. S., Konstantopoulos, K., Ward, C. W., et al. (2017) · Science Signaling · doi:10.1126/scisignal.aan5748 · Cited by 106
Sclerostin antibody stimulates bone regeneration after experimental periodontitis
Taut, A. D., Jin, Q., Chung, J., Galindo‐Moreno, P., Yi, E., Sugai, J. V., Ke, H. Z., Liu, M., & Giannobile, W. V. (2013) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1984 · Cited by 110
Molecular characterization of young and mature odontoblasts
Simon, S. R. J., Smith, A. J., Lumley, P. J., Berdal, A., Smith, G., Finney, S., & Cooper, P. R. (2009) · Bone · doi:10.1016/j.bone.2009.06.018 · Cited by 116
“Sclerostin stimulates the recruitment of osteoblast progenitors via the Wnt pathway and mutations in humans result in high bone mass disorders, such as Van Buchem's disease [40].”
BackgroundThe role of osteocytes in bone mechanotransduction
Santos, A., Bakker, A. D., & Klein‐Nulend, J. (2009) · Osteoporosis International · doi:10.1007/s00198-009-0858-5 · Cited by 110
“A number of molecules have been identified as important markers of osteocytes, such as matrix extracellular phosphoglycoprotein [6] sclerostin [7], dentin matrix protein-1 [8], and phex protein [8].”
The Genetics of Low-Density Lipoprotein Receptor-Related Protein 5 in Bone: A Story of Extremes
Balemans, W., & Hul, W. V. (2007) · Endocrinology · doi:10.1210/en.2006-1352 · Cited by 112
Self-citationNew Insights into Monogenic Causes of Osteoporosis
Mäkitie, R. E., Costantini, A., Kämpe, A., Alm, J. J., & Mäkitie, O. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00070 · Cited by 108
“Conversely, inadequate WNT inhibition from mutations or deletions in the sclerostin-encoding SOST results in high bone mass phenotypes sclerosteosis (MIM 269500) and van Buchem disease (MIM 239100), respectively (48, 49).”
BackgroundMechanical Load Increases in Bone Formation via a Sclerostin-Independent Pathway
Morse, A., McDonald, M. M., Kelly, N. H., Melville, K. M., Schindeler, A., Krämer, I., Kneissel, M., van der Meulen, M. C. H., & Little, D. G. (2014) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2278 · Cited by 109
Genetics of osteoporosis: accelerating pace in gene identification and validation
Li, W., Hou, S.-X., Yu, B., Li, M., Férec, C., & Chen, J. (2009) · Human Genetics · doi:10.1007/s00439-009-0773-z · Cited by 108
“Loss-of-function SOST mutations cause autosomal recessive sclerosteosis, a disease characterized by progressive skeletal overgrowth (Balemans et al. 2001; Brunkow et al. 2001).”
BackgroundCurrent and Future Concepts for the Treatment of Impaired Fracture Healing
Schlickewei, C., Kleinertz, H., Thiesen, D. M., Mader, K., Priemel, M., Frosch, K., & Keller, J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20225805 · Cited by 107
“Sclerostin has been described as a direct inhibitor of LPR5, since sclerostin inactivation leads to the same bone phenotype as activating mutations of LRP5 with enhanced bone growth known as sclerosteosis [75,76].”
BackgroundNovel actions of sclerostin on bone
Holdsworth, G., Roberts, S. J., & Ke, H. Z. (2018) · Journal of Molecular Endocrinology · doi:10.1530/jme-18-0176 · Cited by 109
Noggin and Sclerostin Bone Morphogenetic Protein Antagonists Form a Mutually Inhibitory Complex
Winkler, D. G., Yu, C., Geoghegan, J. C., Ojala, E. W., Skonier, J. E., Shpektor, D., Sutherland, M. K., & Latham, J. A. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m400521200 · Cited by 105
Wnt signaling and osteoporosis
Manolagas, S. C. (2014) · Maturitas · doi:10.1016/j.maturitas.2014.04.013 · Cited by 104
Reppe, S., Noer, A., Grimholt, R. M., Halldórsson, B. V., Medina‐Gómez, C., Gautvik, V. T., Olstad, O. K., Berg, J. P., Datta, H. K., Estrada, K., et al. (2014) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2342 · Cited by 102
BMP signaling in development and diseases: A pharmacological perspective
Bandyopadhyay, A., Yadav, P. S., & Prashar, P. (2013) · Biochemical Pharmacology · doi:10.1016/j.bcp.2013.01.004 · Cited by 105
“Patients having sclerosteosis have mutations in the SOST gene resulting in the generation of an improperly spliced message [85].”
BackgroundRomosozumab for the treatment of osteoporosis
Bandeira, L., Lewiecki, E. M., & Bilezikian, J. P. (2017) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2017.1280455 · Cited by 101
Shen, B., Vardy, K., Hughes, P., Tasdogan, A., Zhao, Z., Yue, R., Crane, G. M., & Morrison, S. J. (2019) · eLife · doi:10.7554/elife.42274 · Cited by 98
Bone as a Target Organ in Rheumatic Disease: Impact on Osteoclasts and Osteoblasts
Baum, R., & Gravallese, E. M. (2015) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-015-8515-6 · Cited by 103
“Buchem’s disease [101–103] and sclerosteosis [104, 105], diseases associated with high bone mass.”
van Lierop, A. H., Witteveen, J. E., Hamdy, N. A. T., & Papapoulos, S. E. (2010) · European Journal of Endocrinology · doi:10.1530/eje-10-0699 · Cited by 105
Niedźwiedzki, T., & Filipowska, J. (2015) · Journal of Molecular Endocrinology · doi:10.1530/jme-15-0067 · Cited by 105
“Due to presence of cysteine knot-like domain in its secondary structure, sclerostin is classified as the DAN (differentialscreening-selected gene aberrant in neuroblastoma) glycoprotein (Balemans et al., 2001; Brunkow et al., 2001; van Bezooijen et al., 2005).”
BackgroundNeural induction and early patterning in vertebrates
Ozair, M. Z., Kintner, C. R., & Brivanlou, A. H. (2012) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.90 · Cited by 104
Sclerostin deficiency in humans
van Lierop, A. H., Appelman‐Dijkstra, N. M., & Papapoulos, S. E. (2016) · Bone · doi:10.1016/j.bone.2016.10.010 · Cited by 99
Profile of romosozumab and its potential in the management of osteoporosis
Lim, S. Y., & Bolster, M. B. (2017) · Drug Design Development and Therapy · doi:10.2147/dddt.s127568 · Cited by 106
“These patients manifest facial distortion and cranial nerve entrapment due to narrowing of the foramina of the cranial nerves, but they have a very low risk of fracture due to increased bone mass.(18,20) SOST-knockout mice have been found to have a high bone mass phenotype with increased bone mineral density (BMD), bo…”
Sheng, Z., Tong, D., Ou, Y., Zhang, H., Zhang, Z., Li, S., Zhou, J., Zhang, J., & Liao, E. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.04315.x · Cited by 99
Wergedal, J. E., Veskovic, K., Hellan, M., Nyght, C., Balemans, W., Libanati, C. R., Vanhoenacker, F. M. H. M., Tan, J., Baylink, D. J., & Hul, W. V. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030201 · Cited by 98
“M IN THE region of the SOST gene on chromosome 17 have been identified with two similar diseases, sclerosteosis (1, 2) and Van Buchem disease or hyperostosis corticalis generalisata (3, 4).”
BackgroundSelf-citationEddleston, A., Marenzana, M., Moore, A., Stephens, P. E., Muzylak, M., Marshall, D., & Robinson, M. K. (2009) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.090403 · Cited by 98
The critical interplay between bone resorbing and bone forming cells
Lerner, U. H., Kindstedt, E., & Lundberg, P. (2019) · Journal Of Clinical Periodontology · doi:10.1111/jcpe.13051 · Cited by 100
Holdsworth, G., Slocombe, P. M., Doyle, C., Sweeney, B., Veverka, V., Riche, K. L., Franklin, R. J., Compson, J. E., Brookings, D. C., Turner, J., et al. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.350108 · Cited by 98
“The human-inherited condition sclerosteosis is caused by an inactivating mutation in sclerostin (23, 24), and sufferers show lifelong increases in bone formation (25).”
BackgroundBalemans, W., Devogelaer, J., Cleiren, E., Piters, E., Caussin, E., & Hul, W. V. (2007) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.070211 · Cited by 97
Self-citationStolina, M., Dwyer, D., Niu, Q., Villasenor, K. S., Kurimoto, P., Grisanti, M. S., Han, C.-Y. E., Liu, M., Li, X., Ominsky, M. S., et al. (2014) · Bone · doi:10.1016/j.bone.2014.07.031 · Cited by 100
Zhao, L., Rios, H. F., & Cochran, D. L. (2015) · Journal of Periodontology · doi:10.1902/jop.2015.130689 · Cited by 96
Chapter 13 Long‐Range Gene Control and Genetic Disease
Kleinjan, D. A., & Lettice, L. A. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00013-2 · Cited by 97
“…carry homozygous null SOST mutations, Van Buchem patients have an intact SOST-coding region but carry a homozygous deletion of 52 kb starting 35 kb downstream of the SOST polyadenylation signal and 10 kb upstream of the neighboring MEOX1 gene (Balemans et al., 2001; Staehling-Hampton et al., 2002).”
BackgroundZeng, H., Bae, Y., Dawson, B., Chen, Y., Bertin, T., Munivez, E. M., Campeau, P. M., Tao, J., Chen, R., & Lee, B. (2017) · Nature Communications · doi:10.1038/ncomms15000 · Cited by 95
Drugs for the management of osteoporosis: a review.
Khajuria, D. K., Razdan, R., & Mahapatra, D. R. (2011) · PubMed · Cited by 95
Mediators of inflammation and bone remodeling in rheumatic disease
Shaw, A. T., & Gravallese, E. M. (2015) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2015.10.013 · Cited by 95
“high bone mass, van Buchem’s disease and sclerosteosis [29, 30].”
BackgroundDurosier, C., van Lierop, A. H., Ferrari, S., Chevalley, T., Papapoulos, S. E., & Rizzoli, R. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-2113 · Cited by 95
Agonists and Antagonists of TGF-β Family LigandsPreprint
Chang, C. (2016) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a021923 · Cited by 101
Klingberg, E., Nurkkala, M., Carlsten, H., & Forsblad‐d’Elia, H. (2014) · The Journal of Rheumatology · doi:10.3899/jrheum.131199 · Cited by 95
Hypoxia Signaling in the Skeleton: Implications for Bone Health
Yellowley, C. E., & Genetos, D. C. (2019) · Current Osteoporosis Reports · doi:10.1007/s11914-019-00500-6 · Cited by 94
Wnt signalling pathway: a new target for the treatment of osteoporosis
Rawadi, G., & Roman‐Roman, S. (2005) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.9.5.1063 · Cited by 94
“Finally, Sost is a secreted protein characterised by a cysteine-knot motif and a significant similarity with the dan family of secreted glycoproteins (dan, cerberus/cer1, gremlin/drm, prdc, caronte and dante [84,85]).”
BackgroundMANAGEMENT OF ENDOCRINE DISEASE: Novel anabolic treatments for osteoporosis
CANALIS, E. M. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0920 · Cited by 94
Genetic determinants of osteoporosis
Ralston, S. H. (2005) · Current Opinion in Rheumatology · doi:10.1097/01.bor.0000166385.62851.92 · Cited by 92
Suen, P. K., & Qin, L. (2015) · Journal of Orthopaedic Translation · doi:10.1016/j.jot.2015.08.004 · Cited by 111
“Patients affected by sclerosteosis carry a loss of functional mutation of the sclerostin gene, which is caused by either nonsense mutations near the 50 region of the sclerostin mRNA transcript or mutations that affect the correct splicing and stability of the transcript [35,36].”
BackgroundKim, S. J., Biegański, T., Sohn, Y. B., Kozlowski, K. S., Semënov, M. V., Okamoto, N., Kim, C. H., Ko, A., Ahn, G., Choi, Y., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-0947-3 · Cited by 91
“…an autosomal recessive disorder resulted from a null mutation of SOST, and a heterozygote carrier of the SOST null mutation is asymptomatic except for incidental reports of mildly increased bone mineral density (Balemans et al. 2001; Brunkow et al. 2001; Kim et al. 2008; Uitterlinden et al. 2004).”
BackgroundSingh, S., Dutta, S., Khasbage, S. U., Kumar, T., Sachin, J., Sharma, J., & Varthya, S. B. (2021) · Osteoporosis International · doi:10.1007/s00198-021-06095-y · Cited by 96
Wnt signaling during fracture repair
Secreto, F. J., Hoeppner, L. H., & Westendorf, J. J. (2009) · Current Osteoporosis Reports · doi:10.1007/s11914-009-0012-5 · Cited by 90
“Sclerostin is the product of the SOST gene, which is genetically inactivated in Sclerosteosis and Van Buchem's disease [47,48].”
BackgroundOsterix and RUNX2 are Transcriptional Regulators of Sclerostin in Human Bone
Pérez-Campo, F. M., Santurtún, A., García‐Ibarbia, C., Pascual, M. A., Valero, C., Garcés, C. M., Sañudo, C., Zarrabeitia, M. T., & Riancho, J. A. (2016) · Calcified Tissue International · doi:10.1007/s00223-016-0144-4 · Cited by 90
Ralston, S. H. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2009.05317.x · Cited by 92
Clinical utility of serum sclerostin measurements
Clarke, B. L., & Drake, M. T. (2013) · BoneKEy Reports · doi:10.1038/bonekey.2013.95 · Cited by 90
“Among these secreted Wnt pathway antagonists is sclerostin, identified only a decade ago as a 213 amino-acid glycoprotein whose loss of function results in the autosomal recessive bone dysplasia sclerosteosis.(2,3) Sclerostin is secreted by osteocytes, and humans with inactivating sclerostin mutations have significant…”
BackgroundGrabowski, P. (2009) · Endocrine development · doi:10.1159/000223687 · Cited by 89
Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis
El‐Gazzar, A., & Högler, W. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020625 · Cited by 89
“Lack of osteocyte-derived sclerostin secretion is pathognomonic for the high bone mass disorders sclerosteosis and van Buchem disease and cause excessive bone formation [61,62].”
Sclerostin inhibition reverses systemic, periarticular and local bone loss in arthritis
Chen, X., Baum, W., Dwyer, D., Stock, M., Schwabe, K., Ke, H.-Z., Stolina, M., Schett, G. A., & Bözec, A. (2013) · Annals of the Rheumatic Diseases · doi:10.1136/annrheumdis-2013-203345 · Cited by 87
An update on vascular calcification and potential therapeutics
Singh, A., Tandon, S., & Tandon, C. (2021) · Molecular Biology Reports · doi:10.1007/s11033-020-06086-y · Cited by 87
Li, X., Ominsky, M. S., Warmington, K. S., Niu, Q., Asuncion, F., Barrero, M., Dwyer, D., Grisanti, M. S., Stolina, M., Kostenuik, P. J., et al. (2011) · Endocrinology · doi:10.1210/en.2011-0252 · Cited by 87
“The changes in serum biomarkers induced by Scl-Ab differ from those reported for human parathyroid hormone (PTH) (1-34).”
BackgroundUpdate in new anabolic therapies for osteoporosis
Canalis, E. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2677 · Cited by 85
Crosstalk of Brain and Bone—Clinical Observations and Their Molecular Bases
Otto, E., Knapstein, P., Jahn, D., Appelt, J., Frosch, K., Tsitsilonis, S., & Keller, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21144946 · Cited by 88
Uremic toxicity and sclerostin in chronic kidney disease patients
Desjardins, L., Liabeuf, S., de Oliveira, R. C., Louvet, L., Kamel, S., Lemke, H., Vanholder, R. C., Choukroun, G. J., & Massy, Z. A. (2014) · Néphrologie & Thérapeutique · doi:10.1016/j.nephro.2014.04.002 · Cited by 86
Roudier, M. P., Li, X., Niu, Q., Pacheco, E., Pretorius, J. K., Graham, K. C., Yoon, B. P., Gong, J., Warmington, K. S., Ke, H. Z., et al. (2012) · Arthritis & Rheumatism · doi:10.1002/art.37802 · Cited by 85
The genetics of bone mass and susceptibility to bone diseases
Karasik, D., Rivadeneira, F., & Johnson, M. L. (2016) · Nature Reviews Rheumatology · doi:10.1038/nrrheum.2016.48 · Cited by 88
Mef2c deletion in osteocytes results in increased bone mass
Krämer, I., Baertschi, S., Halleux, C. M., Keller, H., & Kneissel, M. (2011) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.1492 · Cited by 87
Unique regulation of SOST, the sclerosteosis gene, by BMPs and steroid hormones in human osteoblasts
Sutherland, M. K., Geoghegan, J. C., Yu, C., Winkler, D. G., & Latham, J. A. (2004) · Bone · doi:10.1016/j.bone.2004.04.019 · Cited by 85
Somatic activating mutations in MAP2K1 cause melorheostosis
Kang, H., Jha, S., Deng, Z., Fratzl‐Zelman, N., Cabral, W. A., Ivovic, A., Meylan, F., Hanson, E. P., Lange, E., Katz, J. D., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03720-z · Cited by 87
Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease
Kleinjan, D., & Coutinho, P. (2009) · Briefings in Functional Genomics and Proteomics · doi:10.1093/bfgp/elp022 · Cited by 93
“malformation sclerosteosis (OMIM 269500) [9, 10].”
New insights on the roles of BMP signaling in bone—A review of recent mouse genetic studies
Kamiya, N., & Mishina, Y. M. (2011) · BioFactors · doi:10.1002/biof.139 · Cited by 84
“In humans, loss-of-function and hypomorphic mutations in SOST cause sclerosteosis [76,77] and Van Buchem disease [78,79], respectively, with a HBM phenotype.”
Targeting the LRP5 Pathway Improves Bone Properties in a Mouse Model of Osteogenesis Imperfecta
Jacobsen, C. M., Barber, L. A., Ayturk, U. M., Roberts, H. J., Deal, L. E., Schwartz, M. A., Weis, M., Eyre, D. R., Zurakowski, D., Robling, A. G., et al. (2014) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2198 · Cited by 84
“4 One strategy for increasing LRP5 signaling derives from the identification of mutations that compromise the expression or function of the LRP5 inhibitor SOST/sclerostin in individuals with van Buchem Disease or Sclerosteosis, respectively (17-20).”
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand
Luther, J., Yorgan, T. A., Rolvien, T., Ulsamer, L. P. L., Koehne, T., Liao, N., Keller, D. B., Vollersen, N., Teufel, S., Neven, M., et al. (2018) · Science Translational Medicine · doi:10.1126/scitranslmed.aau7137 · Cited by 83
The Wnt pathway: An important control mechanism in bone's response to mechanical loading
Choi, R. B., & Robling, A. G. (2021) · Bone · doi:10.1016/j.bone.2021.116087 · Cited by 86
Weivoda, M. M., Ruan, M. M., Pederson, L. G., Hachfeld, C. M., Davey, R. A., Zajac, J. D., Westendorf, J. J., Khosla, S., & Oursler, M. J. (2015) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2586 · Cited by 83
“Additionally, impaired expression of the Wnt receptor antagonist sclerostin causes the high bone mass diseases sclerosteosis((44)) and Van Buchem disease.”
BackgroundThe future of osteoporosis treatment – a research update
Lippuner, K. (2012) · Swiss Medical Weekly · doi:10.4414/smw.2012.13624 · Cited by 85
Deciphering the Relevance of Bone ECM Signaling
Alcorta-Sevillano, N., Macías, I., Infante, A., & Rodrı́guez, C. I. (2020) · Cells · doi:10.3390/cells9122630 · Cited by 89
From genetic associations to genes: methods, applications, and challenges
Qi, T., Song, L., Guo, Y., Chen, C., & Yang, J. (2024) · Trends in Genetics · doi:10.1016/j.tig.2024.04.008 · Cited by 85
Fujita, K., Roforth, M. M., Demaray, S., McGregor, U. I., Kirmani, S., McCready, L. K., Peterson, J. M., Drake, M. T., Monroe, D. G., & Khosla, S. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-3249 · Cited by 83
Fijałkowski, I., Geets, E., Steenackers, E., Hoof, V. O. V., Ramos, F. J., Mortier, G. R., Fortuna, A. M., Hul, W. V., & Boudin, E. (2016) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.2782 · Cited by 83
Matrix Mineralization as a Trigger for Osteocyte Maturation
Irie, K., Ejiri, S., Sakakura, Y., Shibui, T., & Yajima, T. (2008) · Journal of Histochemistry & Cytochemistry · doi:10.1369/jhc.2008.950527 · Cited by 81
“Loss of sclerostin in humans causes sclerosteosis and Van Buchem disease, both of which are characterized by a progressively sclerosing bone dysplasia with increased bone formation (Balemans et al. 2001; Brunkow et al. 2001).”
BackgroundTranscriptional control of Sost in bone
Sebastian, A., & Loots, G. G. (2016) · Bone · doi:10.1016/j.bone.2016.10.009 · Cited by 82
Sclerostin Enhances Adipocyte Differentiation in 3T3‐L1 Cells
浮田, 万., Yamaguchi, T., Ohata, N., & Tamura, M. (2015) · Journal of Cellular Biochemistry · doi:10.1002/jcb.25432 · Cited by 80
“Their role was first appreciated when excessive bone mass was observed in patients with sclerosteosis or Van Buchem0s disease, an autosomal recessive disease with mutations or deletions in the Sost gene [Balemans et al., 2001].”
Background
Metadata
- Authors
- Balemans, W.
- Affiliations
- F. Hoffmann-La Roche AG (CH)
- Corresponding author
- Balemans, W.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-03-01
- Volume
- 10
- Issue
- 5
- Pages
- 537-543
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2119934014
- Cited by
- 1,147
- References
- 36
- Citations by year
- 2026: 19 · 2025: 21 · 2024: 34 · 2023: 33 · 2022: 41 · 2021: 64 · 2020: 60 · 2019: 49 · 2018: 48 · 2017: 70 · 2016: 71 · 2015: 74 · 2014: 72 · 2013: 83 · 2012: 68
- FWCI
- 5.82
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (publishedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- reroDoc Digital Library (submittedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- Fonds Wetenschappelijk Onderzoek
- Universiteit Antwerpen
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bone Metabolism and Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone health and osteoporosis research
- Keywords
- sclerosteosis, SOST gene, sclerostin, bone mineral density, bone formation regulation, van Buchem disease, positional cloning, nonsense mutation, splice site mutation, loss-of-function mutations, osteoporosis treatment, consanguineous family
- MeSH terms
- Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 17, DNA Mutational Analysis, Genetic Markers, Humans, Genetic Linkage, Molecular Sequence Data, Osteochondrodysplasias, Protein Conformation, Proteins, RNA, Messenger, Bone Density, Sequence Homology, Amino Acid, DNA, Complementary, Bone Morphogenetic Proteins, Adaptor Proteins, Signal Transducing
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