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Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.

Berwick DC, Javaheri B, Wetzel A, Hopkinson M, Nixon-Abell J, Grannò S, Pitsillides AA, Harvey K.

Mol Neurodegener. 2017 Jan 19;12(1):9. doi: 10.1186/s13024-017-0153-4.


How rare bone diseases have informed our knowledge of complex diseases.

Johnson ML.

Bonekey Rep. 2016 Sep 21;5:839. doi: 10.1038/bonekey.2016.69. Review.


Critical Endothelial Regulation by LRP5 during Retinal Vascular Development.

Huang W, Li Q, Amiry-Moghaddam M, Hokama M, Sardi SH, Nagao M, Warman ML, Olsen BR.

PLoS One. 2016 Mar 31;11(3):e0152833. doi: 10.1371/journal.pone.0152833.


Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5.

Biha N, Ghaber SM, Hacen MM, Collet C.

Case Rep Genet. 2016;2016:9814928. doi: 10.1155/2016/9814928.


Value of rare low bone mass diseases for osteoporosis genetics.

Costantini A, Mäkitie O.

Bonekey Rep. 2016 Jan 6;5:773. doi: 10.1038/bonekey.2015.143. Review.


A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Maupin KA, Droscha CJ, Williams BO.

Bone Res. 2013 Mar 29;1(1):27-71. doi: 10.4248/BR201301004. Review.


Relevance of Wnt signaling for osteoanabolic therapy.

Yorgan TA, Schinke T.

Mol Cell Ther. 2014 Jul 14;2:22. doi: 10.1186/2052-8426-2-22. Review.


LRP receptor family member associated bone disease.

Lara-Castillo N, Johnson ML.

Rev Endocr Metab Disord. 2015 Jun;16(2):141-8. doi: 10.1007/s11154-015-9315-2. Review.


Modifying Role of GSTP1 Polymorphism on the Association between Tea Fluoride Exposure and the Brick-Tea Type Fluorosis.

Wu J, Wang W, Liu Y, Sun J, Ye Y, Li B, Liu X, Liu H, Sun Z, Li M, Cui J, Sun D, Yang Y, Gao Y.

PLoS One. 2015 Jun 5;10(6):e0128280. doi: 10.1371/journal.pone.0128280.


Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.

Wallace DJ, Chau FY, Santiago-Turla C, Hauser M, Challa P, Lee PP, Herndon LW, Allingham RR.

Mol Vis. 2014 Aug 29;20:1174-81.


The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

Stagi S, Cavalli L, Seminara S, de Martino M, Brandi ML.

Ital J Pediatr. 2014 Jun 7;40:55. doi: 10.1186/1824-7288-40-55. Review.


Wnt and the Wnt signaling pathway in bone development and disease.

Wang Y, Li YP, Paulson C, Shao JZ, Zhang X, Wu M, Chen W.

Front Biosci (Landmark Ed). 2014 Jan 1;19:379-407. Review.


Embryonic ablation of osteoblast Smad4 interrupts matrix synthesis in response to canonical Wnt signaling and causes an osteogenesis-imperfecta-like phenotype.

Salazar VS, Zarkadis N, Huang L, Norris J, Grimston SK, Mbalaviele G, Civitelli R.

J Cell Sci. 2013 Nov 1;126(Pt 21):4974-84. doi: 10.1242/jcs.131953.


LRP5 and bone mass regulation: Where are we now?

Johnson ML.

Bonekey Rep. 2012 Jan 10;1:1. doi: 10.1038/bonekey.2012.1.


Regulation of Wnt/β-catenin signaling within and from osteocytes.

Burgers TA, Williams BO.

Bone. 2013 Jun;54(2):244-9. doi: 10.1016/j.bone.2013.02.022. Review.


HIV-1 protein induced modulation of primary human osteoblast differentiation and function via a Wnt/β-catenin-dependent mechanism.

Butler JS, Dunning EC, Murray DW, Doran PP, O'Byrne JM.

J Orthop Res. 2013 Feb;31(2):218-26. doi: 10.1002/jor.22196.


Lrp5 is not required for the proliferative response of osteoblasts to strain but regulates proliferation and apoptosis in a cell autonomous manner.

Javaheri B, Sunters A, Zaman G, Suswillo RF, Saxon LK, Lanyon LE, Price JS.

PLoS One. 2012;7(5):e35726. doi: 10.1371/journal.pone.0035726.


Update on Wnt signaling in bone cell biology and bone disease.

Monroe DG, McGee-Lawrence ME, Oursler MJ, Westendorf JJ.

Gene. 2012 Jan 15;492(1):1-18. doi: 10.1016/j.gene.2011.10.044. Review.


The effect of antiresorptives on bone quality.

Recker RR, Armas L.

Clin Orthop Relat Res. 2011 Aug;469(8):2207-14. doi: 10.1007/s11999-011-1909-8. Review.


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.

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