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 = {2018},
month = {3}
}
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https://doi.org/10.1016/j.metabol.2017.10.005
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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
Osteocyte: the unrecognized side of bone tissue
journal, March 2010
- Rochefort, G. Y.; Pallu, S.; Benhamou, C. L.
- Osteoporosis International, Vol. 21, Issue 9
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
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
Sclerostin and skeletal health
journal, February 2015
- Sharifi, Maryam; Ereifej, Lisa; Lewiecki, E. Michael
- Reviews in Endocrine and Metabolic Disorders, Vol. 16, Issue 2
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
Wnt signaling in cardiovascular disease: opportunities and challenges
journal, January 2017
- Gay, Austin; Towler, Dwight A.
- Current Opinion in Lipidology, Vol. 28, Issue 5
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
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
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
Sost and its paralog Sostdc1 coordinate digit number in a Gli3-dependent manner
journal, November 2013
- Collette, Nicole M.; Yee, Cristal S.; Murugesh, Deepa
- Developmental Biology, Vol. 383, Issue 1
Sclerostin deficiency in humans
journal, March 2017
- van Lierop, Antoon H.; Appelman-Dijkstra, Natasha M.; Papapoulos, Socrates E.
- Bone, Vol. 96
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
The natural history of sclerosteosis: The natural history of sclerosteosis
journal, March 2003
- Hamersma, H.; Gardner, J.; Beighton, P.
- Clinical Genetics, Vol. 63, Issue 3
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
Osteocytes as Dynamic Multifunctional Cells
journal, November 2007
- Bonewald, L. F.
- Annals of the New York Academy of Sciences, Vol. 1116, Issue 1
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the gene
journal, June 2005
- Balemans, W.; Cleiren, E.; Siebers, U.
- Bone, Vol. 36, Issue 6
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
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
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
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
SOST is a target gene for PTH in bone
journal, August 2005
- Keller, Hansjoerg; Kneissel, Michaela
- Bone, Vol. 37, Issue 2
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
Molecular genetics of too much bone
journal, October 2002
- Janssens, K.
- Human Molecular Genetics, Vol. 11, Issue 20
Genetic evidence that SOST inhibits WNT signaling in the limb
journal, June 2010
- Collette, Nicole M.; Genetos, Damian C.; Murugesh, Deepa
- Developmental Biology, Vol. 342, Issue 2
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
Novel SOST gene mutation in a sclerosteosis patient and her parents
journal, February 2013
- Bhadada, Sanjay Kumar; Rastogi, Ashu; Steenackers, Ellen
- Bone, Vol. 52, Issue 2
Parathyroid hormone analogues in the treatment of osteoporosis
journal, July 2011
- Kraenzlin, Marius E.; Meier, Christian
- Nature Reviews Endocrinology, Vol. 7, Issue 11
Role and mechanism of action of sclerostin in bone
journal, March 2017
- Delgado-Calle, Jesus; Sato, Amy Y.; Bellido, Teresita
- Bone, Vol. 96
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
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
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
Transcriptional control of Sost in bone
journal, March 2017
- Sebastian, Aimy; Loots, Gabriela G.
- Bone, Vol. 96
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
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
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
journal, February 2002
- Balemans, W.
- Journal of Medical Genetics, Vol. 39, Issue 2
The OARSI histopathology initiative – recommendations for histological assessments of osteoarthritis in the mouse
journal, October 2010
- Glasson, S. S.; Chambers, M. G.; Van Den Berg, W. B.
- Osteoarthritis and Cartilage, Vol. 18
The complex world of WNT receptor signalling
journal, November 2012
- Niehrs, Christof
- Nature Reviews Molecular Cell Biology, Vol. 13, Issue 12
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
The syndromic status of sclerosteosis and van Buchem disease
journal, February 1984
- Beighton, P.; Barnard, A.; Hamersma, H.
- Clinical Genetics, Vol. 25, Issue 2
Sost downregulation and local Wnt signaling are required for the osteogenic response to mechanical loading
journal, January 2012
- Tu, Xiaolin; Rhee, Yumie; Condon, Keith W.
- Bone, Vol. 50, Issue 1
LRP5 and bone mass regulation: Where are we now?
journal, January 2012
- Johnson, Mark L.
- BoneKEy Reports, Vol. 1
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis
journal, February 2016
- Appelman-Dijkstra, Natasha M.; Papapoulos, Socrates E.
- Endocrine, Vol. 52, Issue 3
Control of Bone Mass and Remodeling by PTH Receptor Signaling in Osteocytes
journal, August 2008
- O'Brien, Charles A.; Plotkin, Lilian I.; Galli, Carlo
- PLoS ONE, Vol. 3, Issue 8
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
Bone Remodeling
journal, December 2006
- Hadjidakis, D. J.; Androulakis, I. I.
- Annals of the New York Academy of Sciences, Vol. 1092, Issue 1
Osteocyte control of bone formation via sclerostin, a novel BMP antagonist
journal, December 2003
- Winkler, D. G.
- The EMBO Journal, Vol. 22, Issue 23
An uncommon familial systemic disease of the skeleton: Hyperostosis corticalis generalisata familiaris
journal, August 1955
- van Buchem, F. S. P.; Hadders, H. N.; Ubbens, R.
- Acta Radiologica, Vol. 44, Issue 2
Regulatory signal transduction pathways for class IIa histone deacetylases
journal, August 2010
- Parra, Maribel; Verdin, Eric
- Current Opinion in Pharmacology, Vol. 10, Issue 4
Sclerostin inhibition promotes TNF-dependent inflammatory joint destruction
journal, March 2016
- Wehmeyer, Corinna; Frank, Svetlana; Beckmann, Denise
- Science Translational Medicine, Vol. 8, Issue 330
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease
journal, June 2005
- Loots, G. G.
- Genome Research, Vol. 15, Issue 7
Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger
journal, April 2015
- Yagi, Hiroko; Takagi, Masaki; Hasegawa, Yukihiro
- Pediatric Radiology, Vol. 45, Issue 8
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
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
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
Normal Bone Anatomy and Physiology
journal, November 2008
- Clarke, Bart
- Clinical Journal of the American Society of Nephrology, Vol. 3, Issue Supplement 3
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
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
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
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
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
SIKs control osteocyte responses to parathyroid hormone
journal, October 2016
- Wein, Marc N.; Liang, Yanke; Goransson, Olga
- Nature Communications, Vol. 7, Issue 1
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
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
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
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
journal, March 2001
- Balemans, W.
- Human Molecular Genetics, Vol. 10, Issue 5
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
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
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