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PubMed (OMIM) for id: 1644991

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Page 1
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. Toomes C, et al. Am J Hum Genet. 2004 Apr;74(4):721-30. doi: 10.1086/383202. Epub 2004 Mar 11. Am J Hum Genet. 2004. PMID: 15024691 Free PMC article.
Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.
Twells RC, Mein CA, Phillips MS, Hess JF, Veijola R, Gilbey M, Bright M, Metzker M, Lie BA, Kingsnorth A, Gregory E, Nakagawa Y, Snook H, Wang WY, Masters J, Johnson G, Eaves I, Howson JM, Clayton D, Cordell HJ, Nutland S, Rance H, Carr P, Todd JA. Twells RC, et al. Genome Res. 2003 May;13(5):845-55. doi: 10.1101/gr.563703. Genome Res. 2003. PMID: 12727905 Free PMC article.
Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion.
Fujino T, Asaba H, Kang MJ, Ikeda Y, Sone H, Takada S, Kim DH, Ioka RX, Ono M, Tomoyori H, Okubo M, Murase T, Kamataki A, Yamamoto J, Magoori K, Takahashi S, Miyamoto Y, Oishi H, Nose M, Okazaki M, Usui S, Imaizumi K, Yanagisawa M, Sakai J, Yamamoto TT. Fujino T, et al. Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):229-34. doi: 10.1073/pnas.0133792100. Epub 2002 Dec 30. Proc Natl Acad Sci U S A. 2003. PMID: 12509515 Free PMC article.
Severe hypercholesterolemia, impaired fat tolerance, and advanced atherosclerosis in mice lacking both low density lipoprotein receptor-related protein 5 and apolipoprotein E.
Magoori K, Kang MJ, Ito MR, Kakuuchi H, Ioka RX, Kamataki A, Kim DH, Asaba H, Iwasaki S, Takei YA, Sasaki M, Usui S, Okazaki M, Takahashi S, Ono M, Nose M, Sakai J, Fujino T, Yamamoto TT. Magoori K, et al. J Biol Chem. 2003 Mar 28;278(13):11331-6. doi: 10.1074/jbc.M211987200. Epub 2002 Dec 31. J Biol Chem. 2003. PMID: 12509421 Free article.
21 results