Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.R611C
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LRP6

NM_002336.3:p.R611C

Associated Papers

Wnt16 Promotes Vascular Smooth Muscle Contractile Phenotype and Function via Taz (Wwtr1) Activation in Male LDLR-/- Mice.

Behrmann A et al.

Endocrinology, 2023

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Ghaleb Y et al.

Metabolites, 2022

TCF7L2 transcriptionally regulates Fgf15 to maintain bile acid and lipid homeostasis through gut-liver crosstalk.

Bhat N et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis.

Awan S et al.

Circulation Research, 2022

RNF43/ZNRF3 loss predisposes to hepatocellular-carcinoma by impairing liver regeneration and altering the liver lipid metabolic ground-state.

Belenguer G et al.

Nature Communications, 2022

WNT3A rs752107(C > T) Polymorphism Is Associated With an Increased Risk of Essential Hypertension and Related Cardiovascular Diseases.

Ren H et al.

Frontiers in Cardiovascular Medicine, 2021

Regulation of the Low-Density Lipoprotein Receptor-Related Protein LRP6 and Its Association With Disease: Wnt/β-Catenin Signaling and Beyond.

Jeong W et al.

Frontiers in Cell and Developmental Biology, 2021

Lrp6 Genotype affects Individual Susceptibility to Nonalcoholic Fatty Liver Disease and Silibinin Therapeutic Response via Wnt/β-catenin-Cyp2e1 Signaling.

Chen LJ et al.

International Journal of Biological Sciences, 2021

The rs2302685 polymorphism in the LRP6 gene is associated with bone mineral density and body composition in Iranian children.

Montazeri-Najafabady N et al.

The Journal of Gene Medicine, 2020

Lipoprotein receptor signalling in atherosclerosis.

Mineo C

Cardiovascular Research, 2020

The interplay of canonical and noncanonical Wnt signaling in metabolic syndrome.

Abou Ziki MD et al.

Nutrition Research (new York, N.y.), 2019

The association of LRP6 rs2302685 (V1062I) polymorphism with the risk of hyperlipidemia in Iranian children and adolescents.

Montazeri-Najafabady N et al.

Annals of Human Genetics, 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

Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.

Guo J et al.

International Journal of Molecular Sciences, 2016

Metabolic syndrome: genetic insights into disease pathogenesis.

Abou Ziki MD et al.

Current Opinion in Lipidology, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

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

Impaired LRP6-TCF7L2 Activity Enhances Smooth Muscle Cell Plasticity and Causes Coronary Artery Disease.

Srivastava R et al.

Cell Reports, 2015

Nonalcoholic fatty liver disease induced by noncanonical Wnt and its rescue by Wnt3a.

Wang S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2015

Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6) Is a Novel Nutritional Therapeutic Target for Hyperlipidemia, Non-Alcoholic Fatty Liver Disease, and Atherosclerosis.

Go GW

Nutrients, 2015

Wnt signaling, de novo lipogenesis, adipogenesis and ectopic fat.

Song K et al.

Oncotarget, 2014

The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction.

Xu S et al.

Lipids in Health and Disease, 2014

The combined hyperlipidemia caused by impaired Wnt-LRP6 signaling is reversed by Wnt3a rescue.

Go GW et al.

Cell Metabolism, 2014

LRP6 in mesenchymal stem cells is required for bone formation during bone growth and bone remodeling.

Li C et al.

Bone Research, 2014

Rare nonconservative LRP6 mutations are associated with metabolic syndrome.

Singh R et al.

Human Mutation, 2013

A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Maupin KA et al.

Bone Research, 2013

LRP6 enhances glucose metabolism by promoting TCF7L2-dependent insulin receptor expression and IGF receptor stabilization in humans.

Singh R et al.

Cell Metabolism, 2013

LRP5 and LRP6 in development and disease.

Joiner DM et al.

Trends in Endocrinology and Metabolism: Tem, 2013

Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.

Go GW et al.

The Yale Journal of Biology and Medicine, 2012

LRP6 protein regulates low density lipoprotein (LDL) receptor-mediated LDL uptake.

Ye ZJ et al.

The Journal of Biological Chemistry, 2012

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

Ahn VE et al.

Developmental Cell, 2011

Modulation of canonical Wnt signaling by the extracellular matrix component biglycan.

Berendsen AD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Crystal structures of the extracellular domain of LRP6 and its complex with DKK1.

Cheng Z et al.

Nature Structural & Molecular Biology, 2011

Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation.

Keramati AR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Carotid artery atherosclerosis in hypertensive patients with a functional LDL receptor-related protein 6 gene variant.

Sarzani R et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011

Mutation in EGFP domain of LDL receptor-related protein 6 impairs cellular LDL clearance.

Liu W et al.

Circulation Research, 2008

Association study of the effect of WFS1 polymorphisms on risk of type 2 diabetes in Japanese population.

Mita M et al.

The Kobe Journal of Medical Sciences, 2008

Lack of association of LRP5 and LRP6 polymorphisms with type 2 diabetes mellitus in the Japanese population.

Zenibayashi M et al.

Endocrine Journal, 2008

Msx2 exerts bone anabolism via canonical Wnt signaling.

Cheng SL et al.

The Journal of Biological Chemistry, 2008

Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease.

De Ferrari GV et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

LRP6 mutation in a family with early coronary disease and metabolic risk factors.

Mani A et al.

Science (new York, N.y.), 2007

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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."