𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

✍ Scribed by Minoru Okubo; Asako Horinishi; Dong-Ho Kim; Tokuo T. Yamamoto; Toshio Murase

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
20 KB
Volume
19
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

We identified seven novel polymorphisms in the human low density lipoprotein receptor related protein 5 (LRP5) gene. Two of them are predicted to replace amino acid in LRP5 protein (c.314A>G: Q89R and c.4037T>C: V1330A), whereas three are silent mutations in the coding region (c.2268T>C: N740N, c.3405A>G: V1119V, and c.4137C>T: D1363D) and two are polymorphisms in introns (IVS10+6T>C and IVS17-30G>A). Since LRP5 recognizes apolipoprotein E and is genetically linked with type 1 diabetes, these novel polymorphisms will be useful in genetic studies of hyperlipoproteinemia and diabetes. To our knowledge, this is the first report in the literature of sequence variants in the human LRP5 gene.

📜 SIMILAR VOLUMES

Low-density lipoprotein receptor-related
Low-density lipoprotein receptor-related protein 5 (LRP5) expression in human osteoarthritic chondrocytes
✍ Ioanna Papathanasiou; Konstantinos N. Malizos; Aspasia Tsezou 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 230 KB

## Abstract The aim of this study was to investigate the activation of the Wnt/β‐catenin pathway in osteoarthritis and the role of low‐density lipoprotein receptor‐related protein 5 (LRP5) in human osteoarthritic chondrocytes. The influence of 1,25(OH)~2~D~3~ on the expression of the __LRP5__ gene

Epidermal growth factor differentially r
Epidermal growth factor differentially regulates low density lipoprotein receptor–related protein gene expression in neoplastic and fetal human astrocytes
✍ Isa M. Hussaini; Morry D. Brown; Larry R. Karns; Joan Carpenter; Gerald T. Redpa 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB 👁 2 views

Low density lipoprotein receptor-related protein (LRP) is a multifunctional endocytotic receptor that may modify the biological activity of reactive astrocytes in neuroplasticity and neurodegeneration and of malignant astrocytes in brain invasion. In this study, the regulation of LRP by epidermal gr

A novel point mutation in a splice accep
A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping
✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB 👁 2 views

Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in