DOE PAGES title logo U.S. Department of Energy
Office of Scientific and Technical Information

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

Authors:
;
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
1437749
Grant/Contract Number:  
ER (16-ERD-007); AC52-07NA27344
Resource Type:
Published Article
Journal Name:
Metabolism, Clinical and Experimental
Additional Journal Information:
Journal Name: Metabolism, Clinical and Experimental Journal Volume: 80 Journal Issue: C; Journal ID: ISSN 0026-0495
Publisher:
Elsevier
Country of Publication:
United States
Language:
English

Citation Formats

Sebastian, Aimy, and Loots, Gabriela G. Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models. United States: N. p., 2018. Web. doi:10.1016/j.metabol.2017.10.005.
Sebastian, Aimy, & Loots, Gabriela G. Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models. United States. https://doi.org/10.1016/j.metabol.2017.10.005
Sebastian, Aimy, and Loots, Gabriela G. Thu . "Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models". United States. https://doi.org/10.1016/j.metabol.2017.10.005.
@article{osti_1437749,
title = {Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models},
author = {Sebastian, Aimy and Loots, Gabriela G.},
abstractNote = {},
doi = {10.1016/j.metabol.2017.10.005},
journal = {Metabolism, Clinical and Experimental},
number = C,
volume = 80,
place = {United States},
year = {Thu Mar 01 00:00:00 EST 2018},
month = {Thu Mar 01 00:00:00 EST 2018}
}

Journal Article:
Free Publicly Available Full Text
Publisher's Version of Record
https://doi.org/10.1016/j.metabol.2017.10.005

Citation Metrics:
Cited by: 42 works
Citation information provided by
Web of Science

Save / Share:

Works referenced in this record:

Patients with sclerosteosis and disease carriers: Human models of the effect of sclerostin on bone turnover
journal, November 2011

  • van Lierop, Antoon H.; Hamdy, Neveen AT; Hamersma, Herman
  • Journal of Bone and Mineral Research, Vol. 26, Issue 12
  • DOI: 10.1002/jbmr.474

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

  • Li, Xiaodong; Ominsky, Michael S.; Niu, Qing-Tian
  • Journal of Bone and Mineral Research, Vol. 23, Issue 6
  • DOI: 10.1359/jbmr.080216

The Lrp4 R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans
journal, August 2017

  • Boudin, Eveline; Yorgan, Timur; Fijalkowski, Igor
  • Journal of Bone and Mineral Research, Vol. 32, Issue 8
  • DOI: 10.1002/jbmr.3160

Sclerostin and skeletal health
journal, February 2015

  • Sharifi, Maryam; Ereifej, Lisa; Lewiecki, E. Michael
  • Reviews in Endocrine and Metabolic Disorders, Vol. 16, Issue 2
  • DOI: 10.1007/s11154-015-9311-6

Dorsalizing signal Wnt-7a required for normal polarity of D–V and A–P axes of mouse limb
journal, March 1995

  • Parr, Brian A.; McMahon, Andrew P.
  • Nature, Vol. 374, Issue 6520
  • DOI: 10.1038/374350a0

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

  • Bouaziz, Wafa; Funck-Brentano, Thomas; Lin, Hilène
  • Arthritis Research & Therapy, Vol. 17, Issue 1
  • DOI: 10.1186/s13075-015-0540-6

First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function
journal, May 2010

  • Piters, Elke; Culha, Cavit; Moester, Martiene
  • Human Mutation, Vol. 31, Issue 7
  • DOI: 10.1002/humu.21274

Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers
journal, December 2005

  • Gardner, Jessica C.; van Bezooijen, Rutger L.; Mervis, Benjamin
  • The Journal of Clinical Endocrinology & Metabolism, Vol. 90, Issue 12
  • DOI: 10.1210/jc.2005-1235

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

  • Brunkow, Mary E.; Gardner, Jessica C.; Van Ness, Jeff
  • The American Journal of Human Genetics, Vol. 68, Issue 3
  • DOI: 10.1086/318811

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

  • Fijalkowski, Igor; Geets, Ellen; Steenackers, Ellen
  • Journal of Bone and Mineral Research, Vol. 31, Issue 4
  • DOI: 10.1002/jbmr.2782

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

  • Kim, Chong Ae; Honjo, Rachel; Bertola, Débora
  • Genetic Testing, Vol. 12, Issue 4
  • DOI: 10.1089/gte.2008.0036

Novel SOST gene mutation in a sclerosteosis patient from Morocco: A case report
journal, March 2014

  • Belkhribchia, Mohamed Reda; Collet, Corinne; Laplanche, Jean-Louis
  • European Journal of Medical Genetics, Vol. 57, Issue 4
  • DOI: 10.1016/j.ejmg.2014.02.007

Building bone to reverse osteoporosis and repair fractures
journal, February 2008

  • Khosla, Sundeep; Westendorf, Jennifer J.; Oursler, Merry Jo
  • Journal of Clinical Investigation, Vol. 118, Issue 2
  • DOI: 10.1172/JCI33612

Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function
journal, April 2011

  • Leupin, Olivier; Piters, Elke; Halleux, Christine
  • Journal of Biological Chemistry, Vol. 286, Issue 22
  • DOI: 10.1074/jbc.M110.190330

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

  • Collette, N. M.; Genetos, D. C.; Economides, A. N.
  • Proceedings of the National Academy of Sciences, Vol. 109, Issue 35
  • DOI: 10.1073/pnas.1207188109

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

  • Fayez, Alaaeldin; Aglan, Mona; Esmaiel, Nora
  • BioMed Research International, Vol. 2015
  • DOI: 10.1155/2015/517815

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

  • Kraenzlin, Marius E.; Meier, Christian
  • Nature Reviews Endocrinology, Vol. 7, Issue 11
  • DOI: 10.1038/nrendo.2011.108

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

  • Niemann, Stephan; Zhao, Chengfeng; Pascu, Filon
  • The American Journal of Human Genetics, Vol. 74, Issue 3
  • DOI: 10.1086/382196

Parathyroid hormone (PTH)–induced bone gain is blunted in SOST overexpressing and deficient mice
journal, December 2009

  • Kramer, Ina; Loots, Gabriela G.; Studer, Anne
  • Journal of Bone and Mineral Research, Vol. 25, Issue 2
  • DOI: 10.1359/jbmr.090730

Sclerostin Mediates Bone Response to Mechanical Unloading Through Antagonizing Wnt/β-Catenin Signaling
journal, October 2009

  • Lin, Chuwen; Jiang, Xuan; Dai, Zhongquan
  • Journal of Bone and Mineral Research, Vol. 24, Issue 10
  • DOI: 10.1359/jbmr.090411

Transcriptional control of Sost in bone
journal, March 2017


An auditory profile of sclerosteosis
journal, March 2014

  • Potgieter, J. M.; Swanepoel, D. W.; Heinze, B. M.
  • The Journal of Laryngology & Otology, Vol. 128, Issue 4
  • DOI: 10.1017/S0022215113002648

Mechanical Stimulation of Bone in Vivo Reduces Osteocyte Expression of Sost/Sclerostin
journal, December 2007

  • Robling, Alexander G.; Niziolek, Paul J.; Baldridge, Lee A.
  • Journal of Biological Chemistry, Vol. 283, Issue 9
  • DOI: 10.1074/jbc.M705092200

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

  • Niehrs, Christof
  • Nature Reviews Molecular Cell Biology, Vol. 13, Issue 12
  • DOI: 10.1038/nrm3470

Sclerostin Antibody Treatment Increases Bone Formation, Bone Mass, and Bone Strength in a Rat Model of Postmenopausal Osteoporosis*
journal, April 2009

  • Li, Xiaodong; Ominsky, Michael S.; Warmington, Kelly S.
  • Journal of Bone and Mineral Research, Vol. 24, Issue 4
  • DOI: 10.1359/jbmr.081206

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

  • Saag, Kenneth G.; Petersen, Jeffrey; Brandi, Maria Luisa
  • New England Journal of Medicine, Vol. 377, Issue 15
  • DOI: 10.1056/NEJMoa1708322

Bone Remodeling
journal, December 2006

  • Hadjidakis, D. J.; Androulakis, I. I.
  • Annals of the New York Academy of Sciences, Vol. 1092, Issue 1
  • DOI: 10.1196/annals.1365.035

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

  • van Lierop, Antoon H.; Hamdy, Neveen AT; van Egmond, Martje E.
  • Journal of Bone and Mineral Research, Vol. 28, Issue 4
  • DOI: 10.1002/jbmr.1794

Single-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibody
journal, June 2010

  • Padhi, Desmond; Jang, Graham; Stouch, Brian
  • Journal of Bone and Mineral Research, Vol. 26, Issue 1
  • DOI: 10.1002/jbmr.173

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

  • Staehling-Hampton, Karen; Proll, Sean; Paeper, Bryan W.
  • American Journal of Medical Genetics, Vol. 110, Issue 2
  • DOI: 10.1002/ajmg.10401

Normal Bone Anatomy and Physiology
journal, November 2008

  • Clarke, Bart
  • Clinical Journal of the American Society of Nephrology, Vol. 3, Issue Supplement 3
  • DOI: 10.2215/CJN.04151206

Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21
journal, February 1998

  • Van Hul, Wim; Balemans, Wendy; Van Hul, Els
  • The American Journal of Human Genetics, Vol. 62, Issue 2
  • DOI: 10.1086/301721

Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
journal, June 1999

  • Balemans, Wendy; Van Den Ende, Jenneke; Freire Paes-Alves, Auristela
  • The American Journal of Human Genetics, Vol. 64, Issue 6
  • DOI: 10.1086/302416

HDAC5 Controls MEF2C-Driven Sclerostin Expression in Osteocytes: HDAC5 REGULATES SCLEROSTIN LEVELS IN OSTEOCYTES
journal, February 2015

  • Wein, Marc N.; Spatz, Jordan; Nishimori, Shigeki
  • Journal of Bone and Mineral Research, Vol. 30, Issue 3
  • DOI: 10.1002/jbmr.2381

Sclerostin: Current Knowledge and Future Perspectives
journal, May 2010

  • Moester, M. J. C.; Papapoulos, S. E.; Löwik, C. W. G. M.
  • Calcified Tissue International, Vol. 87, Issue 2
  • DOI: 10.1007/s00223-010-9372-1

Absence of sclerostin adversely affects B-cell survival
journal, June 2012

  • Cain, Corey J.; Rueda, Randell; McLelland, Bryce
  • Journal of Bone and Mineral Research, Vol. 27, Issue 7
  • DOI: 10.1002/jbmr.1608

SIKs control osteocyte responses to parathyroid hormone
journal, October 2016

  • Wein, Marc N.; Liang, Yanke; Goransson, Olga
  • Nature Communications, Vol. 7, Issue 1
  • DOI: 10.1038/ncomms13176

Sclerostin Deficiency Is Linked to Altered Bone Composition: SCLEROSTIN DEFICIENCY IS LINKED TO ALTERED BONE COMPOSITION
journal, September 2014

  • Hassler, Norbert; Roschger, Andreas; Gamsjaeger, Sonja
  • Journal of Bone and Mineral Research, Vol. 29, Issue 10
  • DOI: 10.1002/jbmr.2259

Control of the SOST Bone Enhancer by PTH Using MEF2 Transcription Factors
journal, August 2007

  • Leupin, Olivier; Kramer, Ina; Collette, Nicole M.
  • Journal of Bone and Mineral Research, Vol. 22, Issue 12
  • DOI: 10.1359/jbmr.070804

Romosozumab in Postmenopausal Women with Low Bone Mineral Density
journal, January 2014

  • McClung, Michael R.; Grauer, Andreas; Boonen, Steven
  • New England Journal of Medicine, Vol. 370, Issue 5
  • DOI: 10.1056/NEJMoa1305224

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

  • He, Wen‐Tao; Chen, Chen; Pan, Chu
  • Clinical Genetics, Vol. 89, Issue 2
  • DOI: 10.1111/cge.12655

Disruption of Lrp4 function by genetic deletion or pharmacological blockade increases bone mass and serum sclerostin levels
journal, November 2014

  • Chang, Ming-Kang; Kramer, Ina; Huber, Thomas
  • Proceedings of the National Academy of Sciences, Vol. 111, Issue 48
  • DOI: 10.1073/pnas.1413828111

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families
journal, February 2011

  • Eyaid, Wafaa; Al-Qattan, Mohammad M.; Al Abdulkareem, Ibrahim
  • American Journal of Medical Genetics Part A, Vol. 155, Issue 3
  • DOI: 10.1002/ajmg.a.33717