Varaico: Literature-Extracted Genetic Variants

Gene:LRP4
Variant:p.R1170Q
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LRP4

NM_002334.4:p.R1170Q

Associated Papers

An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.

Hendrickx G et al.

Calcified Tissue International, 2024

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.

Huybrechts Y et al.

Genes, 2021

Lrp4 Mediates Bone Homeostasis and Mechanotransduction through Interaction with Sclerostin In Vivo.

Bullock WA et al.

Iscience, 2019

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Whyte MP et al.

Bone, 2018

Human Genetics of Sclerosing Bone Disorders.

De Ridder R et al.

Current Osteoporosis Reports, 2018

Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models.

Sebastian A et al.

Metabolism: Clinical and Experimental, 2018

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

Medina-Gomez C et al.

American Journal of Human Genetics, 2018

The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.

Boudin E et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

Fijalkowski I et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016

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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."