Ralston SH - Search Results

1

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein.

Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. Janssens K, et al. Among authors: ralston sh. J Biol Chem. 2003 Feb 28;278(9):7718-24. doi: 10.1074/jbc.M208857200. Epub 2002 Dec 18. J Biol Chem. 2003. PMID: 12493741 Free article.

2

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.

Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM. Hughes AE, et al. Among authors: ralston sh. Nat Genet. 2000 Jan;24(1):45-8. doi: 10.1038/71667. Nat Genet. 2000. PMID: 10615125

3

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.

Janssens K, Gershoni-Baruch R, Van Hul E, Brik R, Guañabens N, Migone N, Verbruggen LA, Ralston SH, Bonduelle M, Van Maldergem L, Vanhoenacker F, Van Hul W. Janssens K, et al. Among authors: ralston sh. J Med Genet. 2000 Apr;37(4):245-9. doi: 10.1136/jmg.37.4.245. J Med Genet. 2000. PMID: 10745041 Free PMC article.

4

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.

Janssens K, Gershoni-Baruch R, Guañabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W. Janssens K, et al. Nat Genet. 2000 Nov;26(3):273-5. doi: 10.1038/81563. Nat Genet. 2000. PMID: 11062463

5

Evaluation of the role of RANK and OPG genes in Paget's disease of bone.

Wuyts W, Van Wesenbeeck L, Morales-Piga A, Ralston S, Hocking L, Vanhoenacker F, Westhovens R, Verbruggen L, Anderson D, Hughes A, Van Hul W. Wuyts W, et al. Bone. 2001 Jan;28(1):104-7. doi: 10.1016/s8756-3282(00)00411-7. Bone. 2001. PMID: 11165949

6

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, Nicholson GC, Ward L, Bennett ST, Wuyts W, Van Hul W, Ralston SH. Hocking LJ, et al. Among authors: ralston sh. Hum Mol Genet. 2002 Oct 15;11(22):2735-9. doi: 10.1093/hmg/11.22.2735. Hum Mol Genet. 2002. PMID: 12374763

7

Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms.

Balemans W, Foernzler D, Parsons C, Ebeling M, Thompson A, Reid DM, Lindpaintner K, Ralston SH, Van Hul W. Balemans W, et al. Among authors: ralston sh. Bone. 2002 Oct;31(4):515-9. doi: 10.1016/s8756-3282(02)00844-x. Bone. 2002. PMID: 12398949

8

A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.

McGowan NW, MacPherson H, Janssens K, Van Hul W, Frith JC, Fraser WD, Ralston SH, Helfrich MH. McGowan NW, et al. Among authors: ralston sh. J Clin Endocrinol Metab. 2003 Jul;88(7):3321-6. doi: 10.1210/jc.2002-020564. J Clin Endocrinol Metab. 2003. PMID: 12843182

9

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Janssens K, et al. J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13. J Med Genet. 2006. PMID: 15894597 Free PMC article. Review.

10

Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.

Beyens G, Daroszewska A, de Freitas F, Fransen E, Vanhoenacker F, Verbruggen L, Zmierczak HG, Westhovens R, Van Offel J, Ralston SH, Devogelaer JP, Van Hul W. Beyens G, et al. Among authors: ralston sh. J Bone Miner Res. 2007 Jul;22(7):1062-71. doi: 10.1359/jbmr.070333. J Bone Miner Res. 2007. PMID: 17388729 Free article.

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