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The A242T mutation in the low-density lipoprotein receptor-related protein 5 gene in one Chinese family with osteosclerosis.

Wang C, Zhang BH, Zhang H, He JW, Hu YQ, Li M, Yue H, Hu WW, Gu JM, Liu YJ, Fu WZ, Zhang ZL.

Intern Med. 2013;52(2):187-92. Epub 2013 Jan 15.


An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Kwee ML, Balemans W, Cleiren E, Gille JJ, Van Der Blij F, Sepers JM, Van Hul W.

J Bone Miner Res. 2005 Jul;20(7):1254-60. Epub 2005 Mar 7.


Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

Rickels MR, Zhang X, Mumm S, Whyte MP.

J Bone Miner Res. 2005 May;20(5):878-85. Epub 2004 Dec 20.


High bone density due to a mutation in LDL-receptor-related protein 5.

Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP.

N Engl J Med. 2002 May 16;346(20):1513-21.


Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling.

Balemans W, Devogelaer JP, Cleiren E, Piters E, Caussin E, Van Hul W.

J Bone Miner Res. 2007 May;22(5):708-16.


Levels of serotonin, sclerostin, bone turnover markers as well as bone density and microarchitecture in patients with high-bone-mass phenotype due to a mutation in Lrp5.

Frost M, Andersen T, Gossiel F, Hansen S, Bollerslev J, van Hul W, Eastell R, Kassem M, Brixen K.

J Bone Miner Res. 2011 Aug;26(8):1721-8. doi: 10.1002/jbmr.376.


Serum levels of sclerostin, Dickkopf-1, and secreted frizzled-related protein-4 are not changed in individuals with high bone mass causing mutations in LRP5.

Simpson CA, Foer D, Lee GS, Bihuniak J, Sun B, Sullivan R, Belsky J, Insogna KL.

Osteoporos Int. 2014 Oct;25(10):2383-8. doi: 10.1007/s00198-014-2767-5. Epub 2014 Jun 14.


Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity.

Hernandez-Cassis C, Vogel CK, Hernandez TP, Econs MJ, Iglesias M, Iglesias A, Levis S, Roos BA, Howard GA, Iglesias Gamarra A.

J Clin Endocrinol Metab. 2003 Jun;88(6):2650-5.


Polymorphism of LRP5 gene and emphysema severity are associated with osteoporosis in Japanese patients with or at risk for COPD.

Chubachi S, Nakamura H, Sasaki M, Haraguchi M, Miyazaki M, Takahashi S, Tanaka K, Funatsu Y, Asano K, Betsuyaku T; Keio COPD Comorbidity Research (K-CCR) Group.

Respirology. 2015 Feb;20(2):286-95. doi: 10.1111/resp.12429. Epub 2014 Nov 12.


Autosomal dominant osteosclerosis: report of a kindred.

Curran AE, Pfeffle RC, Miller E.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999 May;87(5):600-4.


Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M.

BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.


Autosomal dominant osteosclerosis type Stanescu: the third family.

Horovitz DD, Barbosa Neto JG, Boy R, Vargas FR, Llerena Júnior JC, de Almeida JC.

Am J Med Genet. 1995 Jul 17;57(4):605-9.


No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families.

Yu JB, Ke YH, He JW, Zhang H, Hu WW, Hu YQ, Li M, Liu YJ, Gu JM, Fu WZ, Gao G, Yue H, Xiao WJ, Zhang ZL.

Acta Pharmacol Sin. 2010 Nov;31(11):1464-9. doi: 10.1038/aps.2010.92. Epub 2010 Oct 18.


Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.

Yang H, Li S, Xiao X, Wang P, Guo X, Zhang Q.

Mol Vis. 2012;18:2438-46. Epub 2012 Oct 4.


The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.

Wang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, Li M, Liu YJ, Fu WZ, Yue H, Ke YH, Zhang ZL.

J Bone Miner Metab. 2012 May;30(3):338-48. doi: 10.1007/s00774-011-0319-z. Epub 2011 Sep 28.


High-bone-mass disease and LRP5.

Whyte MP, Reinus WH, Mumm S.

N Engl J Med. 2004 May 13;350(20):2096-9; author reply 2096-9. No abstract available. Erratum in: N Engl J Med. 2004 Sep 2;351(10):1038.


Genetic predictors of skeletal outcomes in healthy fertile women: the Bonturno study.

Massart F, Marini F, Bianchi G, Minisola S, Luisetto G, Pirazzoli A, Salvi S, Micheli D, Miccoli M, Baggiani A, Giusti F, Brandi ML.

Joint Bone Spine. 2013 Jul;80(4):414-9. doi: 10.1016/j.jbspin.2012.10.020. Epub 2012 Dec 11.


Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

Downey LM, Bottomley HM, Sheridan E, Ahmed M, Gilmour DF, Inglehearn CF, Reddy A, Agrawal A, Bradbury J, Toomes C.

Br J Ophthalmol. 2006 Sep;90(9):1163-7.

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