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ArticlesPeer ReviewedFull Text
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
Author / Creator:Frishberg, Yaacov ; Topaz, Orit ; Bergman, Reuven ; Behar, Doron ; Fisher, Drora ; Gordon, Derek ; Richard, Gabriele ; Sprecher, Eli
Publisher:Berlin: Springer
Journal title:Journal of molecular medicine (Berlin, Germany), 2005-01, Vol.83 (1), p.33-38
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Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET
Author / Creator:Waterval, Jérôme J. ; Van Dongen, Thijs M. A. ; Stokroos, Robert J. ; Teule, Jaap G. J. ; Kemerink, Gerrit J. ; Brans, Boudewijn ; Nieman, Fred H. M. ; Manni, Johannes J.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of nuclear medicine and molecular imaging, 2011-05, Vol.38 (5), p.884-893
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ArticlesPeer ReviewedFull Text
Sclerostin: Current Knowledge and Future Perspectives
Author / Creator:Moester, M. J. C. ; Papapoulos, S. E. ; Löwik, C. W. G. M. ; van Bezooijen, R. L.
Publisher:New York: Springer-Verlag
Journal title:Calcified tissue international, 2010-08, Vol.87 (2), p.99-107
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ArticlesPeer ReviewedFull Text
Targeted deletion of Sost distal enhancer increases bone formation and bone mass
Author / Creator:Collette, Nicole M ; Genetos, Damian C ; Economides, Aris N ; Xie, LiQin ; Shahnazari, Mohammad ; Yao, Wei ; Lane, Nancy E ; Harland, Richard M ; Loots, Gabriela G
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-08, Vol.109 (35), p.14092-14097
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ArticlesPeer ReviewedFull Text
Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia
Author / Creator:Vijen, Sunny ; Hawes, Chris ; Runions, John ; Russell, R. Graham G. ; Wordsworth, B. Paul ; Carr, Andrew J. ; Pink, Ryan C. ; Zhang, Yun
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-05, Vol.10 (1), p.7408-7408, Article 7408
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ArticlesPeer ReviewedFull Text
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis
Author / Creator:Hendrickx, Gretl ; Borra, Vere M. ; Steenackers, Ellen ; Yorgan, Timur A. ; Hermans, Christophe ; Boudin, Eveline ; Waterval, Jérôme J. ; Jansen, Ineke D. C. ; Aydemir, Tolunay Beker ; Kamerling, Niels ; Behets, Geert J. ; Plumeyer, Christine ; D’Haese, Patrick C. ; Busse, Björn ; Everts, Vincent ; Lammens, Martin ; Mortier, Geert ; Cousins, Robert J. ; Schinke, Thorsten ; Stokroos, Robert J. ; Manni, Johannes J. ; Van Hul, Wim
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2018-04, Vol.14 (4), p.e1007321-e1007321
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ArticlesPeer ReviewedFull Text
Targeting sclerostin as potential treatment of osteoporosis
Author / Creator:Papapoulos, Socrates E
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2011-03, Vol.70 (Suppl 1), p.i119-i122
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ArticlesPeer ReviewedFull Text
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis
Author / Creator:Huybrechts, Yentl ; Boudin, Eveline ; Hendrickx, Gretl ; Steenackers, Ellen ; Hamdy, Neveen ; Mortier, Geert ; Martínez Díaz-Guerra, Guillermo ; Bracamonte, Milagros Sierra ; Appelman-Dijkstra, Natasha M. ; Van Hul, Wim
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-12, Vol.13 (1), p.80
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ArticlesPeer ReviewedFull Text
A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin
Author / Creator:Ekhzaimy, Aishah A. ; Alyusuf, Ebtihal Y. ; Alswailem, Meshael ; Alzahrani, Ali S.
Publisher:Switzerland: MDPI AG
Journal title:Medicina (Kaunas, Lithuania), 2022-01, Vol.58 (2), p.202
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ArticlesPeer ReviewedFull Text
Mesenchymal Stem Cell Differentiation in an Experimental Cartilage Defect: Restriction of Hypertrophy to Bone-Close Neocartilage
Author / Creator:Steck, Eric ; Fischer, Jennifer ; Lorenz, Helga ; Gotterbarm, Tobias ; Jung, Martin ; Richter, Wiltrud
Publisher:United States: Mary Ann Liebert, Inc. publishers
Journal title:Stem cells and development, 2009-09, Vol.18 (7), p.969-978
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ArticlesPeer ReviewedFull Text
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome
Author / Creator:Gok, Faysal ; Chefetz, Ilana ; Indelman, Margarita ; Kocaoglu, Murat ; Sprecher, Eli
Publisher:Basingstoke: Informa UK Ltd
Journal title:Acta orthopaedica, 2009-01, Vol.80 (1), p.131-134
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ArticlesPeer ReviewedFull Text
Expression of Cathepsins B, H, K, L, and S and Matrix Metalloproteinases 9 and 13 During Chondrocyte Hypertrophy and Endochondral Ossification in Mouse Fracture Callus
Author / Creator:Uusitalo, H ; Hiltunen, A ; Söderström, M ; Aro, H T ; Vuorio, E
Publisher:New York: Springer Nature B.V
Journal title:Calcified tissue international, 2000-11, Vol.67 (5), p.382
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ArticlesPeer ReviewedFull Text
Hyperostosis with hyperphosphatemia and tumoral calcinosis: a case report
Author / Creator:Otukesh, Hasan ; Hoseini, Rozita ; Chalian, Hamid ; Chalian, Majid ; Safarzadeh, Amir Ebrahim ; Shakiba, Marjan ; Poorian, Ali
Publisher:Germany: Springer
Journal title:Pediatric nephrology (Berlin, West), 2007-08, Vol.22 (8), p.1235-1237
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ArticlesPeer ReviewedFull Text
Phosphate's fate made easier
Author / Creator:LUFT, F. C
Publisher:Berlin: Springer
Journal title:Journal of molecular medicine (Berlin, Germany), 2005, Vol.83 (1), p.1-2
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ArticlesPeer ReviewedFull Text
Hypertrophy of growth plate chondrocytes in vivo is accompanied by modulations in the activity state and surface area of their cytoplasmic organelles
Author / Creator:Hunziker, E. B. ; Kapfinger, E. ; Saager, C.
Publisher:Germany: Springer Nature B.V
Journal title:Histochemistry and cell biology, 1999-08, Vol.112 (2), p.115-123
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Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

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Bone metabolic activity in hyperostosis cranialis interna measured with 18F-fluoride PET

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Sclerostin: Current Knowledge and Future Perspectives

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Targeted deletion of Sost distal enhancer increases bone formation and bone mass

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Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia

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Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

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Targeting sclerostin as potential treatment of osteoporosis

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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis

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A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin

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Mesenchymal Stem Cell Differentiation in an Experimental Cartilage Defect: Restriction of Hypertrophy to Bone-Close Neocartilage

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Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

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Expression of Cathepsins B, H, K, L, and S and Matrix Metalloproteinases 9 and 13 During Chondrocyte Hypertrophy and Endochondral Ossification in Mouse Fracture Callus

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Hyperostosis with hyperphosphatemia and tumoral calcinosis: a case report

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Phosphate's fate made easier

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Hypertrophy of growth plate chondrocytes in vivo is accompanied by modulations in the activity state and surface area of their cytoplasmic organelles

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