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

Journal Article · · Metabolism, Clinical and Experimental

Not Available

Sponsoring Organization:
USDOE
Grant/Contract Number:
AC52-07NA27344
OSTI ID:
1437749
Journal Information:
Metabolism, Clinical and Experimental, Journal Name: Metabolism, Clinical and Experimental Journal Issue: C Vol. 80; ISSN 0026-0495
Publisher:
ElsevierCopyright Statement
Country of Publication:
United States
Language:
English

References (69)

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
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families journal February 2011
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function journal May 2010
Absence of sclerostin adversely affects B-cell survival journal June 2012
Single-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibody journal June 2010
Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers journal March 2013
Sclerostin Deficiency Is Linked to Altered Bone Composition: SCLEROSTIN DEFICIENCY IS LINKED TO ALTERED BONE COMPOSITION journal September 2014
HDAC5 Controls MEF2C-Driven Sclerostin Expression in Osteocytes: HDAC5 REGULATES SCLEROSTIN LEVELS IN OSTEOCYTES journal February 2015
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
The Lrp4 R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans journal August 2017
Patients with sclerosteosis and disease carriers: Human models of the effect of sclerostin on bone turnover journal November 2011
Osteocyte: the unrecognized side of bone tissue journal March 2010
Sclerostin: Current Knowledge and Future Perspectives journal May 2010
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger journal April 2015
Sclerostin and skeletal health journal February 2015
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis journal February 2016
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the gene journal June 2005
SOST is a target gene for PTH in bone journal August 2005
Sost downregulation and local Wnt signaling are required for the osteogenic response to mechanical loading journal January 2012
Novel SOST gene mutation in a sclerosteosis patient and her parents journal February 2013
Role and mechanism of action of sclerostin in bone journal March 2017
Transcriptional control of Sost in bone journal March 2017
Sclerostin deficiency in humans journal March 2017
Regulatory signal transduction pathways for class IIa histone deacetylases journal August 2010
Novel SOST gene mutation in a sclerosteosis patient from Morocco: A case report journal March 2014
The OARSI histopathology initiative – recommendations for histological assessments of osteoarthritis in the mouse journal October 2010
Genetic evidence that SOST inhibits WNT signaling in the limb journal June 2010
Sost and its paralog Sostdc1 coordinate digit number in a Gli3-dependent manner journal November 2013
An auditory profile of sclerosteosis journal March 2014
The natural history of sclerosteosis: The natural history of sclerosteosis journal March 2003
Dorsalizing signal Wnt-7a required for normal polarity of D–V and A–P axes of mouse limb journal March 1995
LRP5 and bone mass regulation: Where are we now? journal January 2012
SIKs control osteocyte responses to parathyroid hormone journal October 2016
Parathyroid hormone analogues in the treatment of osteoporosis journal July 2011
The complex world of WNT receptor signalling journal November 2012
Romosozumab in Postmenopausal Women with Low Bone Mineral Density journal January 2014
Romosozumab or Alendronate for Fracture Prevention in Women with Osteoporosis journal October 2017
Targeted deletion of Sost distal enhancer increases bone formation and bone mass journal August 2012
Disruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels journal November 2014
Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function journal April 2011
Mechanical Stimulation of Bone in Vivo Reduces Osteocyte Expression of Sost/Sclerostin journal December 2007
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
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein journal March 2001
Homozygous WNT3 Mutation Causes Tetra-Amelia in a Large Consanguineous Family journal March 2004
A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin journal December 2008
Osteocyte control of bone formation via sclerostin, a novel BMP antagonist journal December 2003
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST) journal March 2001
Molecular genetics of too much bone journal October 2002
Wnt signaling in cardiovascular disease: opportunities and challenges journal January 2017
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease journal June 2005
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family journal September 2015
The syndromic status of sclerosteosis and van Buchem disease journal February 1984
Sclerostin inhibition promotes TNF-dependent inflammatory joint destruction journal March 2016
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease journal February 2002
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis journal January 2015
Building bone to reverse osteoporosis and repair fractures journal February 2008
Loss of sclerostin promotes osteoarthritis in mice via β-catenin-dependent and -independent Wnt pathways journal January 2015
Bone Remodeling journal December 2006
Osteocytes as Dynamic Multifunctional Cells journal November 2007
Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers journal December 2005
Control of the SOST Bone Enhancer by PTH Using MEF2 Transcription Factors journal August 2007
Targeted Deletion of the Sclerostin Gene in Mice Results in Increased Bone Formation and Bone Strength journal February 2008
Sclerostin Antibody Treatment Increases Bone Formation, Bone Mass, and Bone Strength in a Rat Model of Postmenopausal Osteoporosis* journal April 2009
Sclerostin Mediates Bone Response to Mechanical Unloading Through Antagonizing Wnt/β-Catenin Signaling journal October 2009
Parathyroid hormone (PTH)–induced bone gain is blunted in SOST overexpressing and deficient mice journal December 2009
Control of Bone Mass and Remodeling by PTH Receptor Signaling in Osteocytes journal August 2008
Normal Bone Anatomy and Physiology journal November 2008
An uncommon familial systemic disease of the skeleton: Hyperostosis corticalis generalisata familiaris journal August 1955

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