Varaico: Literature-Extracted Genetic Variants

Gene:LGR4
Variant:p.R126*
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LGR4

NM_018490.5:p.R126*

Associated Papers

The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia.

Gervas P et al.

Molecular Biology Reports, 2024

LGR4: A New Receptor Member in Endocrine and Metabolic Diseases.

Zhang N et al.

Endocrine Reviews, 2023

Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.

Lucas C et al.

The Journal of Clinical Investigation, 2023

36538378 (PubMed )
Supplement: jci-133-164915-s007.pdf

Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models.

Kague E et al.

Genes, 2022

The genetic overlap between osteoporosis and craniosynostosis.

Kague E et al.

Frontiers in Endocrinology, 2022

LGR4 Gene Polymorphisms Are Associated With Bone and Obesity Phenotypes in Chinese Female Nuclear Families.

Shi SQ et al.

Frontiers in Endocrinology, 2021

Association between LGR4 polymorphisms and peak bone mineral density and body composition.

Yu WJ et al.

Journal of Bone and Mineral Metabolism, 2020

Targeted next generation sequencing of nine osteoporosis-related genes in the Wnt signaling pathway among Chinese postmenopausal women.

Li C et al.

Endocrine, 2020

WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.

Huybrechts Y et al.

Frontiers in Endocrinology, 2020

Advanced Genetic Approaches in Discovery and Characterization of Genes Involved With Osteoporosis in Mouse and Human.

Yuan J et al.

Frontiers in Genetics, 2019

The role of GPCRs in bone diseases and dysfunctions.

Luo J et al.

Bone Research, 2019

MtDNA meta-analysis reveals both phenotype specificity and allele heterogeneity: a model for differential association.

Marom S et al.

Scientific Reports, 2017

Association of a gain-of-function variant in LGR4 with central obesity.

Zou Y et al.

Obesity (silver Spring, Md.), 2017

The genetics of bone mass and susceptibility to bone diseases.

Karasik D et al.

Nature Reviews. Rheumatology, 2016

Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments.

Rivadeneira F et al.

Trends in Endocrinology and Metabolism: Tem, 2016

Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche.

Tan LJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Targeted deletion of the murine Lgr4 gene decreases lens epithelial cell resistance to oxidative stress and induces age-related cataract formation.

Zhu J et al.

Plos One, 2015

Unveiling the mysteries of the genetics of osteoporosis.

Alonso N et al.

Journal of Endocrinological Investigation, 2014

LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.

Yi T et al.

The Journal of Biological Chemistry, 2014

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.

Styrkarsdottir U et al.

Nature, 2013

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