Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Genetic variants in the LRP5 gene associated with gain and loss of bone mineral density.
Gorges DM et al.
In Silico Pharmacology, 2025
Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.
Ren N et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2024
Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.
Zhao D et al.
Molecular Genetics and Genomics : Mgg, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
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
Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.
Martínez-Gil N et al.
Scientific Reports, 2018
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Elevated circulating Sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations.
Gregson CL et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Measurement of plasma, serum, and platelet serotonin in individuals with high bone mass and mutations in LRP5.
Lee GS 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
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 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 high bone mass phenotype is characterised by a combined cortical and trabecular bone phenotype: findings from a pQCT case-control study.
Gregson CL et al.
Bone, 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
Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report.
Kant P et al.
Case Reports in Dentistry, 2013
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 et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice.
Ochotny N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease.
Mason JJ et al.
Journal of Osteoporosis, 2010
Patients with high-bone-mass phenotype owing to Lrp5-T253I mutation have low plasma levels of serotonin.
Frost M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010
The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations.
Balemans W et al.
Calcified Tissue International, 2008
Patients with high bone mass phenotype exhibit enhanced osteoblast differentiation and inhibition of adipogenesis of human mesenchymal stem cells.
Qiu W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.
Waguespack SG et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.
Semenov MV et al.
The Journal of Biological Chemistry, 2006
Genetic regulation of bone mass and susceptibility to osteoporosis.
Ralston SH et al.
Genes & Development, 2006
Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo.
Henriksen K et al.
The American Journal of Pathology, 2005
A clinical and molecular overview of the human osteopetroses.
Balemans W et al.
Calcified Tissue International, 2005
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
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
Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton.
Koay MA et al.
Trends in Molecular Medicine, 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
The role of the Wnt signaling pathway in osteoblast commitment and differentiation.
Yavropoulou MP et al.
Hormones (athens, Greece), 0