Associated Papers
Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta.
Montagna G et al.
Bone, 2026
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta.
Montagna G et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic variants in the LRP5 gene associated with gain and loss of bone mineral density.
Gorges DM et al.
In Silico Pharmacology, 2025
Sclerostin inhibition in rare bone diseases: Molecular understanding and therapeutic perspectives.
Xiaohui T et al.
Journal of Orthopaedic Translation, 2024
LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature.
De Mattia G et al.
Archives of Osteoporosis, 2023
Inhibiting WNT secretion reduces high bone mass caused by Sost loss-of-function or gain-of-function mutations in Lrp5.
Diegel CR et al.
Bone Research, 2023
Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.
Zhao D et al.
Molecular Genetics and Genomics : Mgg, 2023
LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.
Whyte MP et al.
Jbmr Plus, 2023
Osteoblast-Specific Wnt Secretion Is Required for Skeletal Homeostasis and Loading-Induced Bone Formation in Adult Mice.
Lawson LY et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Gain-of-Function Lrp5 Mutation Improves Bone Mass and Strength and Delays Hyperglycemia in a Mouse Model of Insulin-Deficient Diabetes.
Leanza G et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The Genetic Architecture of High Bone Mass.
Gregson CL et al.
Frontiers in Endocrinology, 2020
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.
Whyte MP et al.
Bone, 2019
Induction of Lrp5 HBM-causing mutations in Cathepsin-K expressing cells alters bone metabolism.
Kang KS et al.
Bone, 2019
Low-Density Lipoprotein Receptor-Related Proteins in Skeletal Development and Disease.
Yang T et al.
Physiological Reviews, 2017
Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta.
Jacobsen CM et al.
Bone, 2016
Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta.
Masci M et al.
Bone, 2016
Normal hematopoiesis and lack of β-catenin activation in osteoblasts of patients and mice harboring Lrp5 gain-of-function mutations.
Galán-Díez M et al.
Biochimica Et Biophysica Acta, 2016
High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo.
Niziolek PJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
The Anti-Osteoanabolic Function of Sclerostin Is Blunted in Mice Carrying a High Bone Mass Mutation of Lrp5.
Yorgan TA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
LRP receptor family member associated bone disease.
Lara-Castillo N et al.
Reviews in Endocrine & Metabolic Disorders, 2015
Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia.
Niziolek PJ et al.
Plos One, 2015
Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians.
Arciero E et al.
Plos One, 2015
Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta.
Jacobsen CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.
Sarrión P et al.
Plos One, 2014
An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations.
Ayturk UM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013
A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.
Maupin KA et al.
Bone Research, 2013
The A242T mutation in the low-density lipoprotein receptor-related protein 5 gene in one Chinese family with osteosclerosis.
Wang C et al.
Internal Medicine (tokyo, Japan), 2013
Mechanotransduction in bone tissue: The A214V and G171V mutations in Lrp5 enhance load-induced osteogenesis in a surface-selective manner.
Niziolek PJ et al.
Bone, 2012
High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypes.
Niziolek PJ et al.
Bone, 2011
[Regulation of bone metabolism by pathogenic mutations and polymorphism in the LRP5-Wnt signaling genes].
Urano T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2007
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Balemans W et al.
Endocrinology, 2007
Structure-based mutation analysis shows the importance of LRP5 beta-propeller 1 in modulating Dkk1-mediated inhibition of Wnt signaling.
Bhat BM et al.
Gene, 2007
Influence of an LRP5 cytoplasmic SNP on Wnt signaling and osteoblastic differentiation.
Guo J et al.
Bone, 2007
Genetic regulation of bone mass and susceptibility to osteoporosis.
Ralston SH et al.
Genes & Development, 2006
An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.
Kwee ML et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.
Hartikka H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.
Rickels MR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass.
Ferrari SL et al.
Current Opinion in Lipidology, 2005
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.
Jiao X et al.
American Journal of Human Genetics, 2004
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
Toomes C et al.
American Journal of Human Genetics, 2004
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).
Toomes C et al.
Molecular Vision, 2004
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
Van Wesenbeeck L et al.
American Journal of Human Genetics, 2003