Associated Papers
LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.
Intarak N et al.
International Dental Journal, 2026
Genotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.
Yuan Y et al.
Frontiers in Genetics, 2025
40534843 (PubMed )
Supplement: Table2.xlsx › Sheet2
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies.
Kantaputra P et al.
Archives of Oral Biology, 2022
Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.
Lee Y et al.
Journal of Personalized Medicine, 2022
Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.
Shi M et al.
Stroke and Vascular Neurology, 2022
34880113 (PubMed )
Supplement: svn-2021-001157supp001.pdf
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.
Yang Y et al.
Npj Genomic Medicine, 2022
Cardiomyocyte-Restricted Low Density Lipoprotein Receptor-Related Protein 6 (LRP6) Deletion Leads to Lethal Dilated Cardiomyopathy Partly Through Drp1 Signaling.
Chen Z et al.
Theranostics, 2018
Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.
Guo J et al.
International Journal of Molecular Sciences, 2016
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