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Results: 1 to 20 of 138

1.

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).

Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W.

Hum Mol Genet. 2001 Mar 1;10(5):537-43.

PMID:
11181578
[PubMed - indexed for MEDLINE]
Free Article
2.

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.

Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W.

J Med Genet. 2002 Feb;39(2):91-7.

PMID:
11836356
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

Balemans W, Van Den Ende J, Freire Paes-Alves A, Dikkers FG, Willems PJ, Vanhoenacker F, de Almeida-Melo N, Alves CF, Stratakis CA, Hill SC, Van Hul W.

Am J Hum Genet. 1999 Jun;64(6):1661-9.

PMID:
10330353
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J.

Am J Hum Genet. 2001 Mar;68(3):577-89. Epub 2001 Feb 9.

PMID:
11179006
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene.

Balemans W, Cleiren E, Siebers U, Horst J, Van Hul W.

Bone. 2005 Jun;36(6):943-7.

PMID:
15869924
[PubMed - indexed for MEDLINE]
6.

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.

Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME.

Am J Med Genet. 2002 Jun 15;110(2):144-52.

PMID:
12116252
[PubMed - indexed for MEDLINE]
7.

A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.

Kim CA, Honjo R, Bertola D, Albano L, Oliveira L, Jales S, Siqueira J, Castilho A, Balemans W, Piters E, Jennes K, Van Hul W.

Genet Test. 2008 Dec;12(4):475-9. doi: 10.1089/gte.2008.0036.

PMID:
19072561
[PubMed - indexed for MEDLINE]
8.

Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.

Uitterlinden AG, Arp PP, Paeper BW, Charmley P, Proll S, Rivadeneira F, Fang Y, van Meurs JB, Britschgi TB, Latham JA, Schatzman RC, Pols HA, Brunkow ME.

Am J Hum Genet. 2004 Dec;75(6):1032-45. Epub 2004 Oct 26.

PMID:
15514891
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target?

Balemans W, Van Hul W.

J Musculoskelet Neuronal Interact. 2004 Jun;4(2):139-42. Review.

PMID:
15615113
[PubMed - indexed for MEDLINE]
Free Article
10.

SOST-Related Sclerosing Bone Dysplasias .

Beighton PH, Hamersma H, Brunkow ME.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2002 Jun 04 [updated 2013 Jan 10].

PMID:
20301406
[PubMed]
Books & Documents
11.

First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.

Piters E, Culha C, Moester M, Van Bezooijen R, Adriaensen D, Mueller T, Weidauer S, Jennes K, de Freitas F, Löwik C, Timmermans JP, Van Hul W, Papapoulos S.

Hum Mutat. 2010 Jul;31(7):E1526-43. doi: 10.1002/humu.21274.

PMID:
20583295
[PubMed - indexed for MEDLINE]
12.

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, Hildering P, Vanhoenacker F, Van Camp G, Willems PJ.

Am J Hum Genet. 1998 Feb;62(2):391-9.

PMID:
9463328
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Bone morphogenetic proteins and their antagonists: the sclerostin paradigm.

van Bezooijen RL, Papapoulos SE, Löwik CW.

J Endocrinol Invest. 2005;28(8 Suppl):15-7. Review.

PMID:
16323824
[PubMed - indexed for MEDLINE]
14.

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semënov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK.

Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9.

PMID:
21221996
[PubMed - indexed for MEDLINE]
15.

Novel SOST gene mutation in a sclerosteosis patient and her parents.

Bhadada SK, Rastogi A, Steenackers E, Boudin E, Arya A, Dhiman V, Bhansali A, Van Hul W.

Bone. 2013 Feb;52(2):707-10. doi: 10.1016/j.bone.2012.10.009. Epub 2012 Oct 16.

PMID:
23079137
[PubMed - indexed for MEDLINE]
16.

SOST/sclerostin, an osteocyte-derived negative regulator of bone formation.

van Bezooijen RL, ten Dijke P, Papapoulos SE, Löwik CW.

Cytokine Growth Factor Rev. 2005 Jun;16(3):319-27. Review.

PMID:
15869900
[PubMed - indexed for MEDLINE]
17.

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.

Loots GG, Kneissel M, Keller H, Baptist M, Chang J, Collette NM, Ovcharenko D, Plajzer-Frick I, Rubin EM.

Genome Res. 2005 Jul;15(7):928-35. Epub 2005 Jun 17.

PMID:
15965026
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST).

Sevetson B, Taylor S, Pan Y.

J Biol Chem. 2004 Apr 2;279(14):13849-58. Epub 2004 Jan 22.

PMID:
14739291
[PubMed - indexed for MEDLINE]
Free Article
19.

SOST is a target gene for PTH in bone.

Keller H, Kneissel M.

Bone. 2005 Aug;37(2):148-58.

PMID:
15946907
[PubMed - indexed for MEDLINE]
20.

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B.

Nat Genet. 2000 Oct;26(2):211-5.

PMID:
11017080
[PubMed - indexed for MEDLINE]

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