Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Neuro-ophthalmic complications of endosteal hyperostosis, Worth type: the importance of ophthalmic monitoring.
Higham A et al.
Ophthalmic Genetics, 2025
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
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
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
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
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
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
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
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
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
LDL receptor-related proteins 5 and 6 in Wnt/beta-catenin signaling: arrows point the way.
He X et al.
Development (cambridge, England), 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