Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.V667M
Back to variants list

LRP5

NM_002335.4:p.V667M

Associated Papers

LRP5 promotes adipose progenitor cell fitness and adipocyte insulin sensitivity.

Loh NY et al.

Communications Medicine, 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

Lrp5 p.Val667Met Variant Compromises Bone Mineral Density and Matrix Properties in Osteoporosis.

Fabre S et al.

Jbmr Plus, 2023

Single nucleotide polymorphisms (rs3736228 and rs4988321) in low-density lipoprotein receptor-related protein-5 gene with predisposition to rheumatoid arthritis.

Zehra S et al.

Gene, 2023

Transcriptome-wide association study and eQTL colocalization identify potentially causal genes responsible for human bone mineral density GWAS associations.

Al-Barghouthi BM et al.

Elife, 2022

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.

Oheim R et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.

Rouleau C et al.

Bone Reports, 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

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.

Cohen A et al.

Bone, 2022

More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A.

Caetano da Silva C et al.

Molecular Genetics & Genomic Medicine, 2021

Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).

Carrera W et al.

Ophthalmic Genetics, 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

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S10_LRP5_variant

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

Association between rankl [RS9594759] and IL10 [RS1800896] Genes polymorphism and deciduous tooth eruption terms in Ukrainians born macrosomic.

Garmash OV et al.

Wiadomosci Lekarskie (warsaw, Poland : 1960), 2020

Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders.

Trajanoska K et al.

Frontiers in Endocrinology, 2020

The importance of the Wnt/β-catenin pathway and LRP5 protein in bone metabolism of postmenopausal women.

Kamiński A et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2019

LRP5, Bone Density, and Mechanical Stress: A Case Report and Literature Review.

Norwitz NG et al.

Frontiers in Endocrinology, 2019

LRP5 gene polymorphisms and radiographic joint damage in rheumatoid arthritis patients.

Bernardes M 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, 2018

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes.

Collet C et al.

Jbmr Plus, 2018

Polymorphism in LRP5 (rs556442) is associated with higher TG levels in Iranian children.

Montazeri-Najafabady N et al.

Annals of Human Biology, 2017

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout

Severe osteoporosis with multiple spontaneous vertebral fractures in a young male carrying triple polymorphisms in the vitamin D receptor, collagen type 1, and low-density lipoprotein receptor-related peptide 5 genes.

Yavropoulou MP et al.

Hormones (athens, Greece), 2016

Association of LRP5 Ala1330Val polymorphism with fracture risk: a meta-analysis.

Peng J et al.

Genetics and Molecular Research : Gmr, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Empowered genome community: leveraging a bioinformatics platform as a citizen-scientist collaboration tool.

Wendelsdorf K et al.

Applied & Translational Genomics, 2015

LRP receptor family member associated bone disease.

Lara-Castillo N et al.

Reviews in Endocrine & Metabolic Disorders, 2015

Polymorphism of LRP5 gene and emphysema severity are associated with osteoporosis in Japanese patients with or at risk for COPD.

Chubachi S et al.

Respirology (carlton, Vic.), 2015

Recent genetic discoveries in osteoporosis, sarcopenia and obesity.

Urano T et al.

Endocrine Journal, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Q-01A.domain

Genetics of osteoporosis.

Urano T et al.

Biochemical and Biophysical Research Communications, 2014

Association of LRP5 genotypes with osteoporosis in Tunisian post-menopausal women.

Sassi R et al.

Bmc Musculoskeletal Disorders, 2014

Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

Sarrión P et al.

Plos One, 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 predictors of skeletal outcomes in healthy fertile women: the Bonturno study.

Massart F et al.

Joint Bone Spine, 2013

Association of LRP5 haplotypes with osteoporosis in Mexican women.

Falcón-Ramírez E et al.

Molecular Biology Reports, 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 study of polymorphisms in the SOST gene region and parameters of bone strength and body composition in both young and elderly men: data from the Odense Androgen Study.

Piters E et al.

Calcified Tissue International, 2012

Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment.

Tüysüz B et al.

Hormone Research in Paediatrics, 2012

Structural basis of Wnt signaling inhibition by Dickkopf binding to LRP5/6.

Ahn VE et al.

Developmental Cell, 2011

Association of the A1330V and V667M polymorphisms of LRP5 with bone mineral density in Greek peri- and postmenopausal women.

Markatseli AE et al.

Maturitas, 2011

Analysis of candidate genes for macular telangiectasia type 2.

Parmalee NL et al.

Molecular Vision, 2010

High-density polymorphisms analysis of 23 candidate genes for association with bone mineral density.

Giroux S et al.

Bone, 2010

Genetics of osteoporosis.

Ralston SH et al.

Endocrine Reviews, 2010

Pharmacogenetics of osteoporosis.

Marini F et al.

F1000 Biology Reports, 2010

1–50 of 88 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."