Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
The Relationship Between LRP-5 and LRP-6 Gene Mutations and Postmenopausal Type 2 Diabetes and Obesity.
Li J et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 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
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
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
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.
Cicerone AP et al.
Genes, 2022
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2021
Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP).
Stürznickel J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Associations of LRP5 and MTHFR Gene Variants with Osteoarthritis Prevalence in Elderly Women: A Japanese Cohort Survey Randomly Sampled from a Basic Resident Registry.
Nakano M et al.
Therapeutics and Clinical Risk Management, 2021
Analysis of Etiologic Factors in Pediatric Rhegmatogenous Retinal Detachment With Genetic Testing.
Chen C et al.
American Journal of Ophthalmology, 2020
The Genetic Architecture of High Bone Mass.
Gregson CL et al.
Frontiers in Endocrinology, 2020
Variations of Wnt/β-catenin pathway-related genes in susceptibility to knee osteoarthritis: A three-centre case-control study.
Huang Y et al.
Journal of Cellular and Molecular Medicine, 2019
Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity.
Zhang T et al.
Journal of Cellular Biochemistry, 2019
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.
Lin Y et al.
International Journal of Molecular Medicine, 2018
Lack of Lrp5 Signaling in Osteoblasts Sensitizes Male Mice to Diet-Induced Disturbances in Glucose Metabolism.
Kim SP et al.
Endocrinology, 2017
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
Bardai G 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, 2017
Low density lipoprotein receptor-related protein 5 gene polymorphisms and osteoporosis in Thai menopausal women.
Kitjaroentham A et al.
Journal of Negative Results in Biomedicine, 2016
Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.
Gregson CL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
LRP receptor family member associated bone disease.
Lara-Castillo N et al.
Reviews in Endocrine & Metabolic Disorders, 2015
Genetics of osteoporosis.
Urano T et al.
Biochemical and Biophysical Research Communications, 2014
Polymorphism of the low-density lipoprotein receptor-related protein 5 gene and fracture risk.
Wang C et al.
International Journal of Clinical and Experimental Medicine, 2014
Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.
Fahiminiya S et al.
Bone, 2013
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.
Kondo H et al.
Molecular Vision, 2013
Genetic analysis of the relationship between bone mineral density and low-density lipoprotein receptor-related protein 5 gene polymorphisms.
Yi J et al.
Plos One, 2013
Primary osteoporosis without features of OI in children and adolescents: clinical and genetic characteristics.
Laine CM et al.
American Journal of Medical Genetics. Part A, 2012
Association between Wnt signaling pathway gene polymorphisms and bone response to hormone therapy in postmenopausal Korean women.
Kim H et al.
Menopause (new York, N.y.), 2011
Functional analysis of disease-associated polymorphism LRP5.Q89R.
Mao W et al.
Molecular Vision, 2011
No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families.
Yu JB et al.
Acta Pharmacologica Sinica, 2010
Wnt pathway and IL-17: novel regulators of joint remodeling in rheumatic diseases. Looking beyond the RANK-RANKL-OPG axis.
Daoussis D et al.
Seminars in Arthritis and Rheumatism, 2010
Association of HTRA1 promoter polymorphism with spinal disc degeneration in Japanese women.
Urano T et al.
Journal of Bone and Mineral Metabolism, 2010
Low-density lipoprotein receptor-related protein 5 (LRP5) expression in human osteoarthritic chondrocytes.
Papathanasiou I et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2010
LRP5 in premature adrenarche and in metabolic characteristics of prepubertal children.
Lappalainen S et al.
Clinical Endocrinology, 2009
No association between hip geometry and four common polymorphisms associated with fracture: the Danish osteoporosis prevention study.
Nissen N et al.
Calcified Tissue International, 2009
WNT Signaling in osteoarthritis and osteoporosis: what is the biological significance for the clinician?
Lodewyckx L et al.
Current Rheumatology Reports, 2009
A1330V variant of the low-density lipoprotein receptor-related protein 5 (LRP5) gene decreases Wnt signaling and affects the total body bone mineral density in Japanese women.
Urano T et al.
Endocrine Journal, 2009
Wnt-beta-catenin signaling in the pathogenesis of osteoarthritis.
Corr M
Nature Clinical Practice. Rheumatology, 2008
Association of a single nucleotide polymorphism in the insulin-like growth factor-1 receptor gene with spinal disc degeneration in postmenopausal Japanese women.
Urano T et al.
Spine, 2008
Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis.
van Meurs JB et al.
Jama, 2008
Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
Qin M et al.
Human Genetics, 2008
Combination of the C1429T polymorphism in the G-protein beta-3 subunit gene and the A1330V polymorphism in the low-density lipoprotein receptor-related protein 5 gene is a risk factor for hypercholesterolaemia.
Suwazono Y et al.
Clinical and Experimental Medicine, 2007
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Balemans W et al.
Endocrinology, 2007
The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.
Saarinen A et al.
Bone, 2007
Association of a single-nucleotide variation (A1330V) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) with bone mineral density in adult Japanese women.
Ezura Y et al.
Bone, 2007