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Liu, D. LRP5 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4447 (accessed on 23 September 2026).
Liu D. LRP5 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4447. Accessed September 23, 2026.
Liu, Dean. "LRP5 Gene" Encyclopedia, https://encyclopedia.pub/entry/4447 (accessed September 23, 2026).
Liu, D. (2020, December 23). LRP5 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4447
Liu, Dean. "LRP5 Gene." Encyclopedia. Web. 23 December, 2020.
LRP5 Gene
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LDL receptor related protein 5

genes

References

  1. Ai M, Heeger S, Bartels CF, Schelling DK; Osteoporosis-PseudogliomaCollaborative Group. Clinical and molecular findings in osteoporosis-pseudogliomasyndrome. Am J Hum Genet. 2005 Nov;77(5):741-53.
  2. Balemans W, Van Hul W. The genetics of low-density lipoproteinreceptor-related protein 5 in bone: a story of extremes. Endocrinology. 2007Jun;148(6):2622-9.
  3. Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K,Lifton RP. High bone density due to a mutation in LDL-receptor-related protein 5.N Engl J Med. 2002 May 16;346(20):1513-21.
  4. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S,Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, BeightonP, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, JüppnerH, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E,Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E,Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van HulW, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML;Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LDL receptor-relatedprotein 5 (LRP5) affects bone accrual and eye development. Cell. 2001 Nov16;107(4):513-23.
  5. Hartikka H, Mäkitie O, Männikkö M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB. Heterozygous mutations in the LDL receptor-related protein 5 (LRP5)gene are associated with primary osteoporosis in children. J Bone Miner Res. 2005May;20(5):783-9.
  6. He X, Semenov M, Tamai K, Zeng X. LDL receptor-related proteins 5 and 6 inWnt/beta-catenin signaling: arrows point the way. Development. 2004Apr;131(8):1663-77. Review.
  7. 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. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.
  8. Levasseur R, Lacombe D, de Vernejoul MC. LRP5 mutations inosteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint BoneSpine. 2005 May;72(3):207-14. Review.
  9. Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP,Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K,Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, TzellasN, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A,Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML. Amutation in the LDL receptor-related protein 5 gene results in the autosomaldominant high-bone-mass trait. Am J Hum Genet. 2002 Jan;70(1):11-9.
  10. Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T,Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura KI. LRP5,low-density-lipoprotein-receptor-related protein 5, is a determinant for bonemineral density. J Hum Genet. 2004;49(2):80-86. doi: 10.1007/s10038-003-0111-6.
  11. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of thegenotype-phenotype correlation in familial exudative vitreoretinopathy withmutations in the LRP5 and/or FZD4 genes. Hum Mutat. 2005 Aug;26(2):104-12.
  12. Qin M, Kondo H, Tahira T, Hayashi K. Moderate reduction of Norrin signalingactivity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. Hum Genet. 2008 Jan;122(6):615-23.
  13. Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE,Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K,Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Mutations in LRP5 or FZD4underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Am J Hum Genet. 2004 Apr;74(4):721-30.
  14. van Meurs JB, Trikalinos TA, Ralston SH, Balcells S, Brandi ML, Brixen K, KielDP, Langdahl BL, Lips P, Ljunggren O, Lorenc R, Obermayer-Pietsch B, Ohlsson C,Pettersson U, Reid DM, Rousseau F, Scollen S, Van Hul W, Agueda L, Akesson K,Benevolenskaya LI, Ferrari SL, Hallmans G, Hofman A, Husted LB, Kruk M, KaptogeS, Karasik D, Karlsson MK, Lorentzon M, Masi L, McGuigan FE, Mellström D,Mosekilde L, Nogues X, Pols HA, Reeve J, Renner W, Rivadeneira F, van Schoor NM, Weber K, Ioannidis JP, Uitterlinden AG; GENOMOS Study. Large-scale analysis ofassociation between LRP5 and LRP6 variants and osteoporosis. JAMA. 2008 Mar19;299(11):1277-90. doi: 10.1001/jama.299.11.1277.
  15. Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Bénichou O, Scopelliti D, KeyL, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van HulW. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) genein different conditions with an increased bone density. Am J Hum Genet. 2003Mar;72(3):763-71.
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