Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.A1330V
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LRP5

NM_002335.4:p.A1330V

Associated Papers

LRP5: A Multifaceted Co-Receptor in Development, Disease, and Therapeutic Target.

Alrefaei AF

Cells, 2025

The genetic puzzle of rheumatoid arthritis: Causes, progression, and treatment.

Masoumi M et al.

Biochemistry and Biophysics Reports, 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

Fine-Scale Haplotype Mapping Reveals an Association of the FTO Gene with Osteoporosis and Fracture Risk in Postmenopausal Women.

Greere D et al.

Genes, 2024

Unique Splicing of Lrp5 in the Brain: A New Player in Neurodevelopment and Brain Maturation.

Luquero A et al.

International Journal of Molecular Sciences, 2024

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

Integrating Common Risk Factors with Polygenic Scores Improves the Prediction of Type 2 Diabetes.

Timasheva Y et al.

International Journal of Molecular Sciences, 2023

36674502 (PubMed )
Supplement: ijms-24-00984-s001.zip › ijms-2028364-supplementary › Supplementary_tables_S1_S3_S4_S5.pdf

A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.

Hofstaetter JG et al.

Calcified Tissue International, 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

Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.

He P et al.

Molecular and Cellular Biochemistry, 2022

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.

Yamada M et al.

American Journal of Medical Genetics. Part A, 2021

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

Carrera W et al.

Ophthalmic Genetics, 2021

The association between vitamin D receptor FokI gene polymorphism and osteoporosis in postmenopausal women: a meta-analysis.

Wang S et al.

Climacteric : the Journal of the International Menopause Society, 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

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

The involvement of the canonical Wnt-signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta-analysis.

Grünblatt E et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019

KDR (VEGFR2) Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis.

Paradowska-Gorycka A et al.

Biomolecules, 2019

Macular Hole Complicating Familial Exudative Vitreoretinopathy Due to LRP5 Mutation in an Adolescent.

Munier FL et al.

Ophthalmic Surgery, Lasers & Imaging Retina, 2019

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

Norwitz NG et al.

Frontiers in Endocrinology, 2019

Bone metabolism genes variation and response to bisphosphonate treatment in women with postmenopausal osteoporosis.

Marozik P et al.

Plos One, 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

The low-density lipoprotein receptor-related protein 5 (LRP5) 4037C>T polymorphism: candidate for susceptibility to type 1 diabetes mellitus.

Souza KSC et al.

Archives of Endocrinology and Metabolism, 2018

Harnessing low-density lipoprotein receptor protein 6 (LRP6) genetic variation and Wnt signaling for innovative diagnostics in complex diseases.

Wang ZM et al.

The Pharmacogenomics Journal, 2018

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

Collet C et al.

Jbmr Plus, 2018

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.

Jonsson F et al.

Molecular Vision, 2018

Lack of Lrp5 Signaling in Osteoblasts Sensitizes Male Mice to Diet-Induced Disturbances in Glucose Metabolism.

Kim SP et al.

Endocrinology, 2017

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

Montazeri-Najafabady N et al.

Annals of Human Biology, 2017

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.

Rao FQ et al.

Investigative Ophthalmology & Visual Science, 2017

Functional relevance for associations between osteoporosis and genetic variants.

Liu K et al.

Plos One, 2017

Two novel susceptibility loci for non-small cell lung cancer map to low-density lipoprotein receptor-related protein 5.

Wang Y et al.

Oncology Letters, 2016

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

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

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

Peng J et al.

Genetics and Molecular Research : Gmr, 2016

OPG, RANKL, and RANK gene polymorphisms and the bone mineral density response to alendronate therapy in postmenopausal Chinese women with osteoporosis or osteopenia.

Zheng H et al.

Pharmacogenetics and Genomics, 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

Associations of apolipoprotein E and low-density lipoprotein receptor-related protein 5 polymorphisms with dyslipidemia and generalized aggressive periodontitis in a Chinese population.

Gao H et al.

Journal of Periodontal Research, 2015

LRP receptor family member associated bone disease.

Lara-Castillo N et al.

Reviews in Endocrine & Metabolic Disorders, 2015

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.

Alonso N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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

SOST polymorphisms and response to alendronate treatment in postmenopausal Chinese women with osteoporosis.

Zhou PR et al.

Pharmacogenomics, 2015

Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians.

Arciero E et al.

Plos One, 2015

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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."