Varaico: Literature-Extracted Genetic Variants

Gene:LRP5
Variant:p.N198S
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LRP5

NM_002335.4:p.N198S

Associated Papers

LRP5 promotes adipose progenitor cell fitness and adipocyte insulin sensitivity.

Loh NY et al.

Communications Medicine, 2025

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

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.

Whyte MP et al.

Jbmr Plus, 2023

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

The Genetic Architecture of High Bone Mass.

Gregson CL et al.

Frontiers in Endocrinology, 2020

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.

Whyte MP et al.

Bone, 2019

High bone mass due to novel LRP5 and AMER1 mutations.

Costantini A et al.

European Journal of Medical Genetics, 2017

Impact of gain-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) on glucose and lipid homeostasis.

Foer D 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

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

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

Loh NY et al.

Cell Metabolism, 2015

25651180 (PubMed )
Supplement: mmc1.pdf

Serum levels of sclerostin, Dickkopf-1, and secreted frizzled-related protein-4 are not changed in individuals with high bone mass causing mutations in LRP5.

Simpson CA 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, 2014

Measurement of plasma, serum, and platelet serotonin in individuals with high bone mass and mutations in LRP5.

Lee GS et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014

Autosomal dominant osteopetrosis revisited: lessons from recent studies.

Bollerslev J et al.

European Journal of Endocrinology, 2013

The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.

Balemans W et al.

Endocrinology, 2007

LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.

Semenov MV et al.

The Journal of Biological Chemistry, 2006

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Kwee ML et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

Rickels MR et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005

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