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An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.
Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, Suzuki M, Nagasaki M, Ohtsuki M, Ono M, Furukawa H, Nagashima M, Yoshino S, Mabuchi A, Sekine A, Saito S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K. Tokuhiro S, et al. Among authors: mabuchi a. Nat Genet. 2003 Dec;35(4):341-8. doi: 10.1038/ng1267. Epub 2003 Nov 9. Nat Genet. 2003. PMID: 14608356
Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences.
Kochi Y, Yamada R, Kobayashi K, Takahashi A, Suzuki A, Sekine A, Mabuchi A, Akiyama F, Tsunoda T, Nakamura Y, Yamamoto K. Kochi Y, et al. Among authors: mabuchi a. Arthritis Rheum. 2004 Jan;50(1):63-71. doi: 10.1002/art.11366. Arthritis Rheum. 2004. PMID: 14730600 Free article.
Common variation in GPC5 is associated with acquired nephrotic syndrome.
Okamoto K, Tokunaga K, Doi K, Fujita T, Suzuki H, Katoh T, Watanabe T, Nishida N, Mabuchi A, Takahashi A, Kubo M, Maeda S, Nakamura Y, Noiri E. Okamoto K, et al. Among authors: mabuchi a. Nat Genet. 2011 May;43(5):459-63. doi: 10.1038/ng.792. Epub 2011 Mar 27. Nat Genet. 2011. PMID: 21441931
122 results