The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
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
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 901–999 of 999
Anatomy and Physiology of Skeletal Tissue: The Bone Cells
Brunetti, G., Colaianni, G., Colucci, S. C., & Grano, M. (2018) · Springer eBooks · doi:10.1007/978-3-319-75110-8_1 · Cited by 5
Basic Principles of Bone Cell Biology
Martin, T. J., Ng, K. W., & Sims, N. A. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-415784-2.00002-6 · Cited by 4
Secreted Wnt Inhibitors or Modulators
Bovolenta, P., Gorny, A., Esteve, P., & Steinbeißer, H. (2014) · Wiley eBooks · doi:10.1002/9781118444122.ch13 · Cited by 4
Oxygen Sensing in Osteocytes: From Physiology to Age-related Osteoporosis
Janeczko, K., & Agoro, R. (2025) · Current Osteoporosis Reports · doi:10.1007/s11914-025-00920-7 · Cited by 3
“Osteocytes produce sclerostin (SOST), which binds to low-density lipoprotein receptor-related protein (Lrp)5/6, and neutralizes the anabolic Wnt/beta-catenin pathway, [29, 30] thus negatively regulating bone formation and driving osteoporosis.”
Genetic basis for skeletal new bone formation
Parreira, B., Couto, A. R., Pinheiro, L., & Bruges‐Armas, J. (2023) · Exploration of Musculoskeletal Diseases · doi:10.37349/emd.2023.00018 · Cited by 3
Increased serum sclerostin in postoperative biliary atresia
Honsawek, S., Udomsinprasert, W., Chaiwatanarat, T., Vejchapipat, P., Chongsrisawat, V., & Poovorawan, Y. (2015) · Clinica Chimica Acta · doi:10.1016/j.cca.2015.01.030 · Cited by 3
“Genetic defects that cause a lack of sclerostin expression and therefore result in significantly increased bone mass occur in sclerosteosis and van Buchem disease; whereas high sclerostin expression leads to low bone mass in mice [11–13].”
BackgroundOsteopetrosis: from Animal Models to Human Conditions
Perdu, B., Hul, W. V., & Wesenbeeck, L. V. (2008) · Clinical Reviews in Bone and Mineral Metabolism · doi:10.1007/s12018-008-9021-7 · Cited by 3
“Furthermore, loss of function mutations underlying Van Buchem disease and sclerosteosis were found in the SOST gene encoding sclerostin, which turned out to be an inhibitor of wnt signalling [12–15].”
BackgroundDelgado‐Calle, J., Pérez-Campo, F. M., & Riancho, J. (2014) · Revista de Osteoporosis y Metabolismo Mineral · doi:10.4321/s1889-836x2014000400006 · Cited by 3
Milovanova, L. Y., Beketov, V. D., Milovanova, S. Y., Taranova, M. V., Filippova, A. A., & Pasechnik, A. I. (2021) · Clinical Medicine (Russian Journal) · doi:10.30629/0023-2149-2021-99-4-245-258 · Cited by 3
Human Placental LRP5 and Sclerostin are Increased in Gestational Diabetes Mellitus Pregnancies
Papadopoulou, A., Thymara, E., Maratou, E., Kanellopoulos, G., Papaevangelou, V., Kalantaridou, S., Kanellakis, S., Triantafyllidou, P., Valsamakis, G., & Mastorakos, G. P. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad164 · Cited by 4
Sclerosing bone disorders: a lot of knowns but still some unknowns
Hul, W. V. (2012) · BoneKEy Reports · doi:10.1038/bonekey.2012.97 · Cited by 3
Embryonic Skeletogenesis and Craniofacial Development
Mishina, Y. M., & Kamiya, N. (2017) · Springer eBooks · doi:10.1007/978-3-319-47507-3_3 · Cited by 4
Regulation des Knochenstoffwechsels durch den Wnt-Signalweg
Houschyar, K. S., Tapking, C., Duscher, D., Harati, K., Wallner, C., Wagner, J. M., Maan, Z. N., Rein, S., Chelliah, M. P., Reumuth, G., et al. (2018) · Handchirurgie · Mikrochirurgie · Plastische Chirurgie · doi:10.1055/a-0642-1830 · Cited by 3
Nephrectomy Does not Exacerbate Cancellous Bone loss in Thalassemic Mice
Lotinun, S., Atjanasuppat, K., Limsuvech, J., Leelahavanichkul, A., Svasti, S., & Krishnamra, N. (2020) · Scientific Reports · doi:10.1038/s41598-020-64681-2 · Cited by 3
Morimoto, E., Inagaki, K., Komatsubara, M., Terasaka, T., Itoh, Y., Fujisawa, S., Sasaki, E., Nishiyama, Y., Hara, T., & Wada, J. (2022) · Journal of the Endocrine Society · doi:10.1210/jendso/bvac121 · Cited by 3
“Sclerostin is prominently produced by osteocytes and functions as a key regulator of normal bone remodeling, which inhibits bone formation by inhibiting Wnt signaling [21].”
BackgroundLópez, J. M., Balemans, W., Piters, E., Hul, W. V., & González, G., V (2008) · Bone · doi:10.1016/j.bone.2008.04.011 · Cited by 3
“At present, ten heterozygous missense mutations in the first out of four β-propeller domains of the extracellular portion of LRP5 have been reported in AD types [3–10], while six loss-of-function SOST mutations have been found in AR craniotubular hyperostosis [11–15].”
BackgroundSelf-citationHulley, P. A., Russell, R. G. G., & Croucher, P. I. (2006) · Elsevier eBooks · doi:10.1016/b9-78-012088-5/62650-0078 · Cited by 3
Janssens, K., Thompson, E. M., Vanhoenacker, F. M. H. M., Savarirayan, R., Morris, L. L., Dobbie, A., & Hul, W. V. (2003) · Clinical Dysmorphology · doi:10.1097/00019605-200310000-00007 · Cited by 3
“They are caused by downregulation of the transcription or loss of function of LRP5 and SOST, respectively (Balemans et al., 2001, 2002).”
BackgroundThe genome as pharmacopeia: Association of genetic dose with phenotypic response
Wadhawan, S., Runz, H., & Burchard, J. (2015) · Biochemical Pharmacology · doi:10.1016/j.bcp.2015.02.005 · Cited by 3
The new frontier of bone formation: a breakthrough in postmenopausal osteoporosis?
Ruiz, C., Abril, N., Tarín, J. J., García‐Pérez, M. Á., & Cano, A. (2009) · Climacteric · doi:10.1080/13697130902736939 · Cited by 3
Anabolic and Catabolic Pathways of Parathyroid Hormone on the Skeleton
Silva, B. C. C., & Bilezikian, J. P. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-397166-1.00015-1 · Cited by 3
Rosenzweig, A. B., & Pignolo, R. J. (2010) · Humana Press eBooks · doi:10.1007/978-1-60327-467-8_1 · Cited by 3
Genetic aspects of osteoporosis
Paradowska‐Gorycka, A., & Łącki, J. (2007) · Cited by 3
Bone Biology and Effects of Pharmaceutical Intervention on Bone Quality
Ott, S. M. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802792-9.00002-1 · Cited by 3
Oranger, A., Colaianni, G., & Grano, M. (2013) · Springer eBooks · doi:10.1007/978-88-470-5483-7_1 · Cited by 3
Chapter 39. Overview of Pathogenesis
Raisz, L. G. (2008) · Wiley eBooks · doi:10.1002/9780470623992.ch39 · Cited by 3
Lessons from Sclerosing Bone Dysplasias
Hul, W. V. (2007) · Hormone Research in Paediatrics · doi:10.1159/000110472 · Cited by 3
Matthews, E., Lanham, S., White, K., Kyriazi, M. E., Alexaki, K., El-Sagheer, A. H., Brown, T., Kanaras, A. G., West, J. J., MacArthur, B. D., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.17.156836 · Cited by 3
“Other potential mRNA targets were CD164, CD146 [3], SP7 (Osterix) [24] CXCL12 [25] and Sclerostin (SOST)[26].”
BackgroundSkeletal Aging and Osteoporosis: Cellular Senescence and BeyondPreprint
Chandra, A., & Rajawat, J. (2021) · Preprints.org · doi:10.20944/preprints202102.0127.v1 · Cited by 2
“Sclerostin’s anabolic function and as a possible therapeutic for osteoporosis, is based on the high bone mass phenotype in patients of sclerosteosis with a genetic deficiency of sclerostin[169, 170].”
BackgroundExploring the Interplay Between Kidney Dysfunction and Cardiovascular Disease
Yadav, R., Abubakar, A. K., Mishra, R., Gupta, S. K., Maurya, N. K., Kashyap, V. K., Rustagi, S., Singh, D. P., & Kumar, S. (2025) · Medical Sciences · doi:10.3390/medsci13020080 · Cited by 5
“The expression of this gene in the heart, kidneys, lungs, and other tissues suggests its involvement in vascular function [122].”
Geusens, P., Hul, W. V., van den Bergh, J. P., & Lems, W. F. (2025) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2025.2594642 · Cited by 2
“As further discussed in more detail, the disease-causing gene was localized on chromosome 17 in late 1990s [19], with the identification of the SOST (SclerOSTin) gene in 2001 by two independent groups [20,21] and of the structure of its secreted protein called sclerostin in 2009 [22].”
Bone Multicellular Unit on a Chip (BMU-Chip) Subjected to Cyclic Mechanical Loading
Merife, A.-B., Seitz, M. P., Polshikova, A., Aryal, U., Geffert, Z. J., Jain, E., Horton, J. A., Pajevic, P. D., & Soman, P. (2026) · ACS Biomaterials Science & Engineering · doi:10.1021/acsbiomaterials.5c01798 · Cited by 2
Boschert, V., Muth, E.-M., Knappik, A., Frisch, C., & Mueller, T. D. (2015) · Acta Crystallographica Section F Structural Biology Communications · doi:10.1107/s2053230x1500360x · Cited by 2
“Sclerostin was initially identified from genetic screens of two rare diseases, sclerosteosis and van Buchem syndrome, which are characterized by excessive bone overgrowth, indicating that sclerostin is a strong negative regulator of bone mass (Balemans et al., 2001, 2002).”
BackgroundEffect of Zoledronate on the Responses of Osteocytes to Acute Parathyroid Hormone
Kuroshima, S., Elliott, K. W., & Yamashita, J. (2013) · Calcified Tissue International · doi:10.1007/s00223-013-9720-z · Cited by 2
“Mutation of SOST, which encodes sclerostin, causes a high–bone mass phenotype [8].”
Circulating Sclerostin in Disorders of Parathyroid Gland Function
Clarke, B. L. (2012) · Yearbook of Endocrinology · doi:10.1016/j.yend.2012.03.051 · Cited by 2
Lee, H.-H., Choi, E.-Y., Jun, H.-S., & Kim, Y. (2022) · Medicina · doi:10.3390/medicina58111566 · Cited by 2
“Sclerostin is a protein expressed in the SOST gene [21].”
BackgroundSerum sclerostin is associated with recurrent kidney stone formation independent of hypercalciuria
Rodríguez, D., Gurevich, E., Jouabadi, S. M., Arroyo, E. M. P., Ritter, A., Younes, S. E., Wagner, C. A., Silva, P. H. I., Seeger, H., & Mohebbi, N. (2023) · Clinical Kidney Journal · doi:10.1093/ckj/sfad256 · Cited by 2
“It inhibits bone formation by osteoblasts via blockade of WNT/ β -catenin signalling [14 –17 ].”
BackgroundAssessment of Reference Genes Stability in Cortical Bone of Obese and Diabetic Mice
Ai, Y., Peng, K., Li, C., Zhang, J., Wang, G., Wang, B., & Huang, E. (2024) · Diabetes Metabolic Syndrome and Obesity · doi:10.2147/dmso.s453458 · Cited by 3
Defining the Critical Role of LRP4 in Neuromuscular Junctions and Bone Signaling
Binienda, T., DeMartini, A., & Bullock, W. A. (2025) · Lipidology · doi:10.3390/lipidology2010003 · Cited by 3
Vitamin D and Wnt/β-Catenin Signaling
González‐Sancho, J. M., Larriba, M. J., & Múñoz, A. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-381978-9.10013-7 · Cited by 2
The non-canonical Wnt5a/Ror2 signaling pathway in bone metabolism
Sonomoto, K., Yamaoka, K., & Tanaka, Y. (2014) · Inflammation and Regeneration · doi:10.2492/inflammregen.34.103 · Cited by 2
From osteoblast to osteoclast: new insights of Yin-Yang theory in bone remodeling
Zhao, D., Wang, C., Zhao, Y., Yang, Z., Shi, Q. W., Feng, X., Yang, Y., & Wang, Y. (2015) · World Journal of Traditional Chinese Medicine · doi:10.15806/j.issn.2311-8571.2014.0025 · Cited by 2
Control of Bone Homeostasis by the Wnt Inhibitor Sclerostin
McGee‐Lawrence, M. E., & Hamrick, M. W. (2016) · Current Molecular Biology Reports · doi:10.1007/s40610-016-0040-8 · Cited by 2
Boudin, E., & Hul, W. V. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804182-6.00029-0 · Cited by 2
Fulzele, K. S., & Pajevic, P. D. (2017) · Current Molecular Biology Reports · doi:10.1007/s40610-017-0061-y · Cited by 2
Perdu, B., Mortier, G. R., Vanhoenacker, F. M. H. M., & Hul, W. V. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-382040-2.10020-6 · Cited by 2
Recent advances in models for screening potential osteoporosis drugs
Merlotti, D., Materozzi, M., Picchioni, T., Bianciardi, S., Alessandri, M., Nuti, R., & Gennari, L. (2018) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2018.1480609 · Cited by 2
Bellido, T., Pajevic, P. D., & Bonewald, L. F. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804182-6.00014-9 · Cited by 2
Perdu, B., & Hul, W. V. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-387829-8.00023-8 · Cited by 2
Pereira, R. C., Noche, K. J., Gales, B., Chen, Z., Salusky, I. B., & Albrecht, L. V. (2024) · Children · doi:10.3390/children11070820 · Cited by 3
“…the sclerostin encoding gene (SOST − / − ) was discovered by loss-of-function mutations in two autosomal recessive disorders, sclerosteosis and van Buchem disease (VBD) [22–24], which are characterized by high bone mass and a thickening of cortical bone due to hyperactive osteoblasts [16,17].”
BackgroundControl of bone mass by sclerostin: Inhibiting BMP- and WNT-induced bone formation
de Gorter, D. J. J., Krause, C., ten Dijke, P., Löwik, C. W. G. M., & van Bezooijen, R. L. (2008) · Birkhäuser Basel eBooks · doi:10.1007/978-3-7643-8552-1_14 · Cited by 2
How Basic Science Discoveries Have Shaped the Treatment of Bone and Mineral Disorders
Langdahl, B. L., & Ralston, S. H. (2017) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.3316 · Cited by 2
“Linkage analysis of families with sclerosteosis and the related syndrome of Van Buchem disease localized both disease genes to chromosome 17q12–q21((64)) and subsequent positional cloning identified loss-of-function mutations affecting the coding region of SOST (the gene that encodes sclerostin) as the cause of sclero…”
BackgroundPharmacologic basis of sclerostin inhibition
Ke, H. Z., Roberts, S. J., & Holdsworth, G. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-814841-9.00074-9 · Cited by 2
Ni, X., Zhang, Q., Li, X., Pang, Q., Gong, Y., Wang, O., Li, M., Xing, X., Jiang, Y., & Xia, W. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab579 · Cited by 2
Ralston, S. H. (2001) · BoneKEy-Osteovision · doi:10.1138/2001022 · Cited by 2
Improved titanium and steel implants : Studies on bisphosphonate, strontium and surface treatments
Linderbäck, P. (2011) · DiVA (Linkoping University) · Cited by 2
[Is today's man really less fertile?].
Marmor, D., Izard, V., Schahmanèche, D. D., Benoît, G., & Jardin, A. (1998) · PubMed · Cited by 2
Cell–cell signaling pathways that regulate mesenchymal stromal cell differentiation
Etheridge, L., Mason, R. A., Saleh, F., & Genever, P. G. (2016) · doi:10.1002/9781118907474.ch9 · Cited by 2
Radiographic Progression in Ankylosing Spondylitis
Sarı, İ. (2018) · TSpace (University of Toronto) · Cited by 2
Pathophysiology of The Chronic Kidney Disease–Mineral Bone Disorder
Hruska, K. A., Sugatani, T., & Williams, M. J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.11271-1 · Cited by 2
Editorial: Innovative Models in Bone Biology: What can be Learned From Rare Bone Diseases?
de Vries, T. J., Hul, W. V., & Eekhoff, E. M. W. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.892799 · Cited by 2
Mechanical Properties of Bone Due to SOST Expression: A 3-Point Bending Assessment of Murine Femurs
Peterson, K. J. (2012) · doi:10.15368/theses.2012.49 · Cited by 2
“gene, or in its distant regulatory elements, cause sclerosing bone disorders such as sclerosteosis and Van Buchem disease [29-30, 43].”
BackgroundProvot, S., Schipani, E., Wu, J. Y., & Kronenberg, H. M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813073-5.00003-4 · Cited by 2
Identification of osteoporosis genes using family studies
Schembri, M., & Formosa, M. M. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1455689 · Cited by 1
Lee, H. K., Notario, G. R., Won, S. Y., Kim, J. H., Lee, S. M., Kim, H. S., & Cho, S. (2025) · Bone Reports · doi:10.1016/j.bonr.2025.101829 · Cited by 1
“Further, patients with sclerosteosis, which is caused by a rare loss-of-function mutation in the SOST gene, exhibit increased bone mass and elevated BMD (Brunkow et al., 2001; Balemans et al., 2001).”
Changes in the craniofacial morphology in sclerostin knockout mice
Ikeda, K., Kaku, M., Fan-Yi, C., Shukunami, C., & Tanimoto, K. (2025) · Archives of Oral Biology · doi:10.1016/j.archoralbio.2025.106492 · Cited by 1
Growth Plate, Bone and Calcium
Chrysis, D., Heino, T. J., & Savendahl, L. S. (2008) · KARGER eBooks · doi:10.1159/000158557 · Cited by 1
“The sclerostin gene was originally identified by mutational analyses of an extremely rare genetic disorder, sclerosteosis (Van Buchem’s disease), which is an autosomal recessive sclerosing bone dysplasia characterized by massive bone overgrowth [19].”
BackgroundColbert, R. A. (2007) · Cambridge University Press eBooks · doi:10.1017/cbo9780511543555.028 · Cited by 1
Romosozumab/CDP7851 for the treatment of osteoporosis
Sim, I., & Ebeling, P. R. (2015) · Expert Review of Endocrinology & Metabolism · doi:10.1586/17446651.2015.1079482 · Cited by 1
“Both disorders have been linked with impaired function of the SOST gene, with sclereostosis being associated with mutations within the coding region of the SOST gene [48,49].”
BackgroundContemporary Approaches for Identifying Rare Bone Disease Causing Genes
Farber, C. R., & Clemens, T. L. (2013) · Bone Research · doi:10.4248/br201304001 · Cited by 1
Somaiya, R. D., & Kaur, G. (2015) · Bone and Tissue Regeneration Insights · doi:10.4137/btri.s12333 · Cited by 1
A Forty Five Years Female Patient with Sclerosteosis
Ahmed, S., Kader, M. A., Ahmed, Q. M. U., Shahin, M. A., Azad, M. A. K., Banik, J., Mojumdar, S. M., Rahman, M. F. U., Ara, R., & Haq, S. A. (1970) · Journal of Medicine · doi:10.3329/jom.v11i2.5477 · Cited by 1
The Variety of Osteocyte Function
O’Brien, C. A. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800571-2.00006-2 · Cited by 1
7. Novel and current approaches to dietary and non-dietary bone metabolism regulation
Tatara, M. R., Krupski, W., Majer-Dziedzic, B., & Szabelska, A. (2016) · Wageningen Academic Publishers eBooks · doi:10.3920/978-90-8686-823-0_7 · Cited by 1
Whyte, M. P. (2006) · Elsevier eBooks · doi:10.1016/b9-78-012088-5/62650-0509 · Cited by 1
Disorders of Mineral and Bone Metabolism in Chronic Kidney Disease
Hruska, K. A., Seifert, M. E., & Surendran, K. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-411602-3.00027-5 · Cited by 1
Role of sclerostin in the pathogenesis of chronic kidney disease-mineral bone
Asamiya, Y., Tsuchiya, K., & Nitta, K. (2016) · Cited by 1
Sebastian, A., & Loots, G. G. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-804182-6.00005-8 · Cited by 1
[Progress in the regulation of bone remodeling at the cellular level].
Hu, Y., Wang, L., Jiang, L., Xu, H., & Zhu, S. (2017) · PubMed Central · doi:10.7507/1001-5515.201606011 · Cited by 1
Conformational Dynamics of Sclerostin-LRP6 Complex Analyzed by HDX-MS
Jeong, Y., Kim, J., Choi, H., & Chung, K. Y. (2021) · Biomolecules & Therapeutics · doi:10.4062/biomolther.2020.234 · Cited by 1
“SOST is a secreted glycoprotein, and its loss-of-function mutation was first identified in sclerosteosis (Balemans et al ., 2001; Brunkow et al ., 2001).”
Zuo, X., Zhou, C., Zhu, X., Liu, D., Wang, Y., Bao, H., Zhang, K., & Zhang, Y. (2021) · Archives of Medical Science · doi:10.5114/aoms/125210 · Cited by 1
“The wingless-related integration site (Wnt)/ β -catenin signaling pathway is the key pathway of bone metabolism to regulate bone mass. De-fective Wnt signaling causes several monogenic skeletal disorders such as osteoporosis-pseudo-glioma syndrome, van Buchem disease, and scle-rosteosis [16–18].”
Perry, K. W. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-818036-5.00013-6 · Cited by 1
Lauterlein, J.-J., Gossiel, F., Weigl, M., Eastell, R., Hackl, M., Hermann, A. P., Bollerslev, J., & Frost, M. (2021) · JBMR Plus · doi:10.1002/jbm4.10534 · Cited by 1
Miedany, Y. M. E. (2022) · Springer eBooks · doi:10.1007/978-3-030-87950-1_20 · Cited by 2
Bone Health: Basic and Applied Bone Biology
Miedany, Y. M. E. (2022) · Springer eBooks · doi:10.1007/978-3-030-87950-1_1 · Cited by 1
Martínez‐Gil, N., Ovejero, D., García‐Giralt, N., Bruque, C. D., Mellibovsky, L., Nogués, X., Rabionet, R., Grinberg, D., & Balcells, S. (2022) · JBMR Plus · doi:10.1002/jbm4.10602 · Cited by 1
Mundy, G. R., Oyajobi, B. O., Gutierrez, G., Sterling, J. A. R., Padalecki, S. S., Elefteriou, F., & Zhao, M. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-375098-3.50019-6 · Cited by 1
From Calcium Channels to New Therapeutics
McDonough, S. I. (2022) · Springer eBooks · doi:10.1007/978-3-031-08881-0_27 · Cited by 1
Ismael, A. K., & Alabassi, H. M. (2024) · Ibn AL- Haitham Journal For Pure and Applied Science · doi:10.30526/37.1.3367 · Cited by 1
Emerging roles of osteocytes in the regulation of bone and skeletal muscle mass
Moin, M. R., Das, S., & Sanyal, S. (2024) · Journal of Molecular Endocrinology · doi:10.1530/jme-24-0033 · Cited by 1
Katchkovsky, S., Meiri, R., Lacham‐Hartman, S., Orenstein, Y., Levaot, N., & Papo, N. (2024) · FEBS Letters · doi:10.1002/1873-3468.15033 · Cited by 2
Spas-Defasque, E., Renaud, A., Cortet, B., Herbinet, P., Boutry, N., & Cotten, A. (2013) · Elsevier eBooks · doi:10.1016/b978-2-294-71924-0.00013-9 · Cited by 1
Pawlak-Buś, K. K., & Leszczyński, P. (2011) · Endokrynologia, Otyłość i Zaburzenia Przemiany Materii · Cited by 1
Bone Turnover Markers and Glucocorticoid Treatments
Devogelaer, J., Durnez, A., Gruson, D., & Manicourt, D. H. (2015) · Exposure and Health · doi:10.1007/978-94-007-7745-3_23-1 · Cited by 1
Wnt signaling and bone cell activity
Williams, B. O., & Johnson, M. L. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-814841-9.00008-7 · Cited by 1
Osteocyte Mechanobiology in Aging and Disease
Donahue, H. J., Friendman, M. J., & Genetos, D. C. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-817931-4.00001-7 · Cited by 1
"Sclerostin in Oral Tissues: Distribution, Biological Functions and Potential Therapeutic Role"
Han, X. (2020) · Open Access Journal of Biomedical Science · doi:10.38125/oajbs.000228 · Cited by 1
“Sclerostin is a 190 amino acid secreted glycoprotein with a molecular mass of 24kDa and is transcribed from the Sost gene located on chromosome 17q12-21 [1-3].”
BackgroundMelaku, L. S. (2023) · Biomedical Journal of Scientific & Technical Research · doi:10.26717/bjstr.2023.50.007982 · Cited by 1
Cellular Mechanisms of Mechanotransduction in Bone
Young, S. R. L., & Pavalko, F. M. (2010) · Springer eBooks · doi:10.1007/978-90-481-9881-8_12 · Cited by 1
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
