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
Idiopathic juvenile osteoporosis-a polygenic disorder?
Wade E et al.
Jbmr Plus, 2024
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION.
Chen C et al.
Retina (philadelphia, Pa.), 2022
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
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
Influence of LRP5 (rs556442) polymorphism on insulin resistance in healthy Iranian children and adolescents
Montazeri-Nafafabady N et al.
Turkish Journal of Medical Sciences, 2019
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.
Korvala J et al.
Bmc Medical Genetics, 2012
Structural basis of Wnt signaling inhibition by Dickkopf binding to LRP5/6.
Ahn VE et al.
Developmental Cell, 2011
Functional analysis of disease-associated polymorphism LRP5.Q89R.
Mao W et al.
Molecular Vision, 2011
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
Saarinen A et al.
Clinical Endocrinology, 2010
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
Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.
Downey LM et al.
The British Journal of Ophthalmology, 2006
Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.
Crabbe P et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
Ai M et al.
American Journal of Human Genetics, 2005
Association of polymorphisms in low-density lipoprotein receptor-related protein 5 gene with bone mineral density in postmenopausal Chinese women.
Zhang ZL et al.
Acta Pharmacologica Sinica, 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
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
Association of vitamin D receptor and estrogen receptor-alpha gene polymorphism with peak bone mass and bone size in Chinese women.
Qin YJ et al.
Acta Pharmacologica Sinica, 2004
High bone mass in mice expressing a mutant LRP5 gene.
Babij P et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Gong Y et al.
Cell, 2001