Warning: The NCBI web site requires JavaScript to function. more...
Generate a file for use with external citation management software.
WNT signaling in bone homeostasis and disease: from human mutations to treatments.
Baron R, Kneissel M.
Nat Med. 2013 Feb;19(2):179-92. doi: 10.1038/nm.3074. Epub 2013 Feb 6. Review.
Related citations
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.
Tüysüz B, Bursalı A, Alp Z, Suyugül N, Laine CM, Mäkitie O.
Horm Res Paediatr. 2012;77(2):115-20. doi: 10.1159/000336193. Epub 2012 Mar 23.
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).
Laine CM, Chung BD, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole WG, Netzer C, Mäkitie O.
Eur J Hum Genet. 2011 Aug;19(8):875-81. doi: 10.1038/ejhg.2011.42. Epub 2011 Mar 16.
Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.
Marques-Pinheiro A, Levasseur R, Cormier C, Bonneau J, Boileau C, Varret M, Abifadel M, Allanore Y.
Joint Bone Spine. 2010 Mar;77(2):151-3. doi: 10.1016/j.jbspin.2009.11.013. Epub 2010 Jan 21.
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T.
Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177.
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
Saarinen A, Saukkonen T, Kivelä T, Lahtinen U, Laine C, Somer M, Toiviainen-Salo S, Cole WG, Lehesjoki AE, Mäkitie O.
Clin Endocrinol (Oxf). 2010 Apr;72(4):481-8. doi: 10.1111/j.1365-2265.2009.03680.x. Epub 2009 Aug 5.
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C.
Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916.
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation.
Barros ER, Dias da Silva MR, Kunii IS, Lazaretti-Castro M.
J Pediatr Endocrinol Metab. 2008 Aug;21(8):811-8. Erratum in: J Pediatr Endocrinol Metab. 2008 Sep;21(9):911.
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.
Streeten EA, McBride D, Puffenberger E, Hoffman ME, Pollin TI, Donnelly P, Sack P, Morton H.
Bone. 2008 Sep;43(3):584-90. doi: 10.1016/j.bone.2008.04.020. Epub 2008 May 7.
The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations.
Balemans W, Piters E, Cleiren E, Ai M, Van Wesenbeeck L, Warman ML, Van Hul W.
Calcif Tissue Int. 2008 Jun;82(6):445-53. doi: 10.1007/s00223-008-9130-9.
The role of the Wnt signaling pathway in osteoblast commitment and differentiation.
Yavropoulou MP, Yovos JG.
Hormones (Athens). 2007 Oct-Dec;6(4):279-94. Review.
A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.
Barros ER, Dias da Silva MR, Kunii IS, Hauache OM, Lazaretti-Castro M.
Osteoporos Int. 2007 Jul;18(7):1017-8. Epub 2007 Apr 17. No abstract available.
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Balemans W, Van Hul W.
Endocrinology. 2007 Jun;148(6):2622-9. Epub 2007 Mar 29. Review.
Targeting the Wnt/beta-catenin pathway to regulate bone formation in the adult skeleton.
Baron R, Rawadi G.
Endocrinology. 2007 Jun;148(6):2635-43. Epub 2007 Mar 29. Review.
Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature.
Blair MP, Shapiro MJ.
Arch Ophthalmol. 2007 Mar;125(3):432-3; author reply 433. No abstract available.
Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene.
Drenser KA, Trese MT.
Arch Ophthalmol. 2007 Mar;125(3):431-2. No abstract available.
Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome.
Di Iorgi N, Maghnie M.
J Pediatr. 2006 Nov;149(5):734. No abstract available.
The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment.
Sawakami K, Robling AG, Ai M, Pitner ND, Liu D, Warden SJ, Li J, Maye P, Rowe DW, Duncan RL, Warman ML, Turner CH.
J Biol Chem. 2006 Aug 18;281(33):23698-711. Epub 2006 Jun 20.
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.
Cheung WM, Jin LY, Smith DK, Cheung PT, Kwan EY, Low L, Kung AW.
Bone. 2006 Sep;39(3):470-6. Epub 2006 May 6.
Filters: Manage Filters
Your browsing activity is empty.
Activity recording is turned off.
Turn recording back on