Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
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
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Bollerslev J et al.
European Journal of Endocrinology, 2013
Association of low-density lipoprotein receptor-related protein 5 (LRP5) promoter SNP with peak bone mineral density in Chinese women.
Cheung CL et al.
Human Heredity, 2008
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Balemans W et al.
Endocrinology, 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
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