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Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

The American Journal of Human Genetics · 2001 · Vol. 68(3) · pp. 577–589

Mary E. Brunkow✉(Celltechgen (United States))Jessica C. Gardner(University of Cape Town)Jeff Van Ness(Celltechgen (United States))Bryan Paeper(Celltechgen (United States))Brian R. Kovacevich(Celltechgen (United States))Sean Proll(Celltechgen (United States))John E. Skonier(Celltechgen (United States))Lei Zhao(Celltechgen (United States))Peter J. Sabo(Celltechgen (United States))Ying‐Hui Fu(Celltechgen (United States))Reid S. Alisch(Celltechgen (United States))Lucille Gillett(Celltechgen (United States))Trenton Colbert(Celltechgen (United States))Paolo Tacconi(University of Cagliari)David J. Galas(Celltechgen (United States))Herman A. HamersmaPeter Beighton(University of Cape Town)John Mulligan(Celltechgen (United States))

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Bone health and treatments dental development and anomalies Bone Metabolism and DiseasesGeneCystineGeneticsBiologyBiochemistry

MeSH terms

Amino Acid SequenceAnimalsBase SequenceBone DiseasesChromosome MappingChromosomes, Human, Pair 17ConsanguinityCystineFemaleGenetic MarkersHomozygoteHumansMaleMolecular Sequence DataNetherlands

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Sclerostin is a delayed secreted product of osteocytes that inhibits bone formation