Article
A1330V variant of the low-density lipoprotein receptor-related protein 5 (LRP5) gene decreases Wnt signaling and affects the total body bone mineral density in Japanese women.
Endocrine journal - 1 Jan 2009
Urano Tomohiko, Shiraki Masataka, Usui Takahiko, Sasaki Noriko, Ouchi Yasuyoshi, Inoue Satoshi
Abstract excerpt
Wnt signaling is an important regulator of bone homeostasis. The Wnt co-receptor, namely, low-density lipoprotein receptor-related protein 5 (LRP5), initiates Wnt signal transduction. Recently, we and several other groups have shown that there is a single nucleotide polymorphism (SNP) located in the exon 18 of the LRP5 gene that leads to an amino acid change (3989C > T, A1330V), and is associated with lumbar...
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