Detail LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors   Oleh:  Mani, Arya ; Radhakrishnan, Jayaram ; Wang, He ; Mani, Alaleh ; Nelson-Williams, Carol ; Carew, Khary S ; Mane, Shrikant ; Najmabadi, Hossein ; Wu, Dan ; Lifton, Richard P. Jenis: Article from Bulletin/Magazine Dalam koleksi: SCIENCE (keterangan: ada di Proquest) vol. 315 no. 5816 (Mar. 2007), page 1278. Topik: Genetics Ketersediaan Perpustakaan FK Nomor Panggil: S01.K.2007.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada     Lihat Detail Induk Isi artikel Coronary artery disease (CAD) is the leading cause of death worldwide and is commonly caused by a constellation of risk factors called the metabolic syndrome. We characterized a family with autosomal dominant early CAD, features of the metabolic syndrome (hyperlipidemia, hypertension, and diabetes), and osteoporosis. These traits showed genetic linkage to a short segment of chromosome 12p, in which we identified a missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway. The mutation, which substitutes cysteine for arginine at a highly conserved residue of an epidermal growth factor-like domain, impairs Wnt signaling in vitro. These results link a single gene defect in Wnt signaling to CAD and multiple cardiovascular risk factors. Opini Anda Klik untuk menuliskan opini Anda tentang koleksi ini! Kembali

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