ArticleAmerican journal of human genetics2001
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 421 papers, 3 of them syntheses that pooled it.
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Who cites it
421 citing papers in PubMed, 3 syntheses or guidelines pooled it, 1,008 citations in OpenAlex.
- Romosozumab for the treatment of osteoporosis - a systematic review.Journal of endocrinological investigation · 2025Pooled it
- A systematic review and meta-analysis of efficacy and safety of Romosozumab in postmenopausal osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2022Pooled it
- Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics.Science translational medicine · 2020Pooled it
- Future directions of osteoanabolic therapies in osteoporosis: Integrating current anabolic agents and emerging senescence-targeted strategies.Best practice & research. Clinical rheumatology · 2026Review
- Article
- Characterising skull pathologies in the Sost-deficient mouse for preclinical evaluation of sclerosteosis treatments.Disease models & mechanisms · 2026Article
- The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.Nature reviews. Endocrinology · 2026Review
- Proxied therapeutic inhibition on sclerostin and atrial fibrillation risk.Communications medicine · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.Research square · 2026Article
- Functionally informed cis and trans proteome-wide association studies prioritize disease-critical genes.medRxiv : the preprint server for health sciences · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- Sclerostin in Vascular Calcification: Hypoxia-Driven Regulation and Therapeutic Modulation by Natural Products.Current atherosclerosis reports · 2026Review
- Sclerostin deficiency sensitizes white adipocytes to thermogenic signals that induce beiging in mice.Nature communications · 2026Article
- In silico identification of sclerostin inhibitors.Molecular diversity · 2026Article
- New findings in diabetic kidney disease: correlation and enhanced combined diagnostic value of sclerostin and 25(OH)VD.Frontiers in endocrinology · 2026Article
- The Role of Angiogenetic Factors in Preeclampsia.International journal of molecular sciences · 2025Review
- Early Diagnosis and Follow-Up of a Novel Homozygous Mutation inInternational journal of molecular sciences · 2025Review
- Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1.Molecular genetics & genomic medicine · 2025Article
- BMP signalling in colorectal cancer: losing the yin to WNTs yang.The Journal of pathology · 2025Review
- Osteogenesis imperfecta: pathogenesis, classification, and treatment.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Review
361 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth. The majority of affected individuals have been reported in the Afrikaner population of South Africa, where a high incidence of the disorder occurs as a result of a founder effect. Homozygosity mapping in Afrikaner families along with analysis of historical recombinants localized sclerosteosis to an interval of approximately 2 cM between the loci D17S1787 and D17S930 on chromosome 17q12-q21. Here we report two independent mutations in a novel gene, termed "SOST." Affected Afrikaners carry a nonsense mutation near the amino terminus of the encoded protein, whereas an unrelated affected person of Senegalese origin carries a splicing mutation within the single intron of the gene. The SOST gene encodes a protein that shares similarity with a class of cystine knot-containing factors including dan, cerberus, gremlin, prdc, and caronte. The specific and progressive effect on bone formation observed in individuals affected with sclerosteosis, along with the data presented in this study, together suggest that the SOST gene encodes an important new regulator of bone homeostasis.
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