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Title: Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models

Journal Article · · Metabolism, Clinical and Experimental

Sponsoring Organization:
USDOE
Grant/Contract Number:
ER (16-ERD-007); AC52-07NA27344
OSTI ID:
1437749
Journal Information:
Metabolism, Clinical and Experimental, Journal Name: Metabolism, Clinical and Experimental Vol. 80 Journal Issue: C; ISSN 0026-0495
Publisher:
ElsevierCopyright Statement
Country of Publication:
United States
Language:
English
Citation Metrics:
Cited by: 42 works
Citation information provided by
Web of Science

References (69)

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Osteocyte: the unrecognized side of bone tissue journal March 2010
Targeted Deletion of the Sclerostin Gene in Mice Results in Increased Bone Formation and Bone Strength journal February 2008
The Lrp4 R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans journal August 2017
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Dorsalizing signal Wnt-7a required for normal polarity of D–V and A–P axes of mouse limb journal March 1995
Wnt signaling in cardiovascular disease: opportunities and challenges journal January 2017
Loss of sclerostin promotes osteoarthritis in mice via β-catenin-dependent and -independent Wnt pathways journal January 2015
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function journal May 2010
Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers journal December 2005
Sost and its paralog Sostdc1 coordinate digit number in a Gli3-dependent manner journal November 2013
Sclerostin deficiency in humans journal March 2017
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein journal March 2001
The natural history of sclerosteosis: The natural history of sclerosteosis journal March 2003
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone: LRP4 AS A BONE ANCHOR OF SCLEROSTIN journal January 2016
Osteocytes as Dynamic Multifunctional Cells journal November 2007
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the gene journal June 2005
A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin journal December 2008
Novel SOST gene mutation in a sclerosteosis patient from Morocco: A case report journal March 2014
Building bone to reverse osteoporosis and repair fractures journal February 2008
Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function journal April 2011
SOST is a target gene for PTH in bone journal August 2005
Targeted deletion of Sost distal enhancer increases bone formation and bone mass journal August 2012
Molecular genetics of too much bone journal October 2002
Genetic evidence that SOST inhibits WNT signaling in the limb journal June 2010
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis journal January 2015
Novel SOST gene mutation in a sclerosteosis patient and her parents journal February 2013
Parathyroid hormone analogues in the treatment of osteoporosis journal July 2011
Role and mechanism of action of sclerostin in bone journal March 2017
Homozygous WNT3 Mutation Causes Tetra-Amelia in a Large Consanguineous Family journal March 2004
Parathyroid hormone (PTH)–induced bone gain is blunted in SOST overexpressing and deficient mice journal December 2009
Sclerostin Mediates Bone Response to Mechanical Unloading Through Antagonizing Wnt/β-Catenin Signaling journal October 2009
Transcriptional control of Sost in bone journal March 2017
An auditory profile of sclerosteosis journal March 2014
Mechanical Stimulation of Bone in Vivo Reduces Osteocyte Expression of Sost/Sclerostin journal December 2007
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease journal February 2002
The OARSI histopathology initiative – recommendations for histological assessments of osteoarthritis in the mouse journal October 2010
The complex world of WNT receptor signalling journal November 2012
Sclerostin Antibody Treatment Increases Bone Formation, Bone Mass, and Bone Strength in a Rat Model of Postmenopausal Osteoporosis* journal April 2009
The syndromic status of sclerosteosis and van Buchem disease journal February 1984
Sost downregulation and local Wnt signaling are required for the osteogenic response to mechanical loading journal January 2012
LRP5 and bone mass regulation: Where are we now? journal January 2012
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis journal February 2016
Control of Bone Mass and Remodeling by PTH Receptor Signaling in Osteocytes journal August 2008
Romosozumab or Alendronate for Fracture Prevention in Women with Osteoporosis journal October 2017
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Osteocyte control of bone formation via sclerostin, a novel BMP antagonist journal December 2003
An uncommon familial systemic disease of the skeleton: Hyperostosis corticalis generalisata familiaris journal August 1955
Regulatory signal transduction pathways for class IIa histone deacetylases journal August 2010
Sclerostin inhibition promotes TNF-dependent inflammatory joint destruction journal March 2016
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease journal June 2005
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger journal April 2015
Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers journal March 2013
Single-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibody journal June 2010
A 52-kb deletion in theSOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population journal May 2002
Normal Bone Anatomy and Physiology journal November 2008
Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21 journal February 1998
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
  • Balemans, Wendy; Van Den Ende, Jenneke; Freire Paes-Alves, Auristela
  • The American Journal of Human Genetics, Vol. 64, Issue 6 https://doi.org/10.1086/302416
journal June 1999
HDAC5 Controls MEF2C-Driven Sclerostin Expression in Osteocytes: HDAC5 REGULATES SCLEROSTIN LEVELS IN OSTEOCYTES journal February 2015
Sclerostin: Current Knowledge and Future Perspectives journal May 2010
Absence of sclerostin adversely affects B-cell survival journal June 2012
SIKs control osteocyte responses to parathyroid hormone journal October 2016
Sclerostin Deficiency Is Linked to Altered Bone Composition: SCLEROSTIN DEFICIENCY IS LINKED TO ALTERED BONE COMPOSITION journal September 2014
Control of the SOST Bone Enhancer by PTH Using MEF2 Transcription Factors journal August 2007
Romosozumab in Postmenopausal Women with Low Bone Mineral Density journal January 2014
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST) journal March 2001
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family journal September 2015
Disruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels journal November 2014
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families journal February 2011

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