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Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH; Genetic Determinants of Paget's Disease (GDPD) Consortium. Albagha OM, et al. Among authors: papapoulos s. Nat Genet. 2011 May 29;43(7):685-9. doi: 10.1038/ng.845. Nat Genet. 2011. PMID: 21623375 Free article.
Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.
Chung PY, Beyens G, Riches PL, Van Wesenbeeck L, de Freitas F, Jennes K, Daroszewska A, Fransen E, Boonen S, Geusens P, Vanhoenacker F, Verbruggen L, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Karperien M, Papapoulos S, Ralston SH, Devogelaer JP, Van Hul W. Chung PY, et al. Among authors: papapoulos s. J Bone Miner Res. 2010 Dec;25(12):2592-605. doi: 10.1002/jbmr.162. Epub 2010 Jun 18. J Bone Miner Res. 2010. PMID: 20564239 Free article.
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
Chung PY, Beyens G, Boonen S, Papapoulos S, Geusens P, Karperien M, Vanhoenacker F, Verbruggen L, Fransen E, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Devogelaer JP, Van Hul W. Chung PY, et al. Among authors: papapoulos s. Hum Genet. 2010 Dec;128(6):615-26. doi: 10.1007/s00439-010-0888-2. Epub 2010 Sep 14. Hum Genet. 2010. PMID: 20839008
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
Chung PY, Beyens G, Guañabens N, Boonen S, Papapoulos S, Karperien M, Eekhoff M, Van Wesenbeeck L, Jennes K, Geusens P, Offeciers E, Van Offel J, Westhovens R, Zmierczak H, Devogelaer JP, Van Hul W. Chung PY, et al. Among authors: papapoulos s. Calcif Tissue Int. 2008 Jul;83(1):34-42. doi: 10.1007/s00223-008-9137-2. Epub 2008 Jun 10. Calcif Tissue Int. 2008. PMID: 18543015
343 results