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Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. Oka Y, et al. Among authors: tokunaga k. Sci Adv. 2020 Dec 18;6(51):eabd7197. doi: 10.1126/sciadv.abd7197. Print 2020 Dec. Sci Adv. 2020. PMID: 33355142 Free PMC article.
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan. Jia X, et al. Among authors: tokunaga k. J Am Soc Nephrol. 2018 Aug;29(8):2189-2199. doi: 10.1681/ASN.2017080859. Epub 2018 Jul 16. J Am Soc Nephrol. 2018. PMID: 30012571 Free PMC article.
NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.
Hitomi Y, Nakatani K, Kojima K, Nishida N, Kawai Y, Kawashima M, Aiba Y, Nagasaki M, Nakamura M, Tokunaga K. Hitomi Y, et al. Among authors: tokunaga k. Cell Mol Gastroenterol Hepatol. 2019;7(3):515-532. doi: 10.1016/j.jcmgh.2018.11.006. Epub 2018 Dec 4. Cell Mol Gastroenterol Hepatol. 2019. PMID: 30528300 Free PMC article.
Correction to: High-resolution melt analysis enables simple genotyping of complicated polymorphisms of codon 18 rendering the NUDT15 diplotype.
Kakuta Y, Izumiyama Y, Okamoto D, Nakano T, Ichikawa R, Naito T, Moroi R, Kuroha M, Kanazawa Y, Kimura T, Shiga H, Kudo H, Minegishi N, Kawai Y, Tokunaga K, Nagasaki M, Kinouchi Y, Suzuki Y, Masamune A; MENDEL study group. Kakuta Y, et al. Among authors: tokunaga k. J Gastroenterol. 2020 Jan;55(1):132. doi: 10.1007/s00535-019-01646-x. J Gastroenterol. 2020. PMID: 31768800
Genetic Analysis of Ulcerative Colitis in Japanese Individuals Using Population-specific SNP Array.
Okamoto D, Kawai Y, Kakuta Y, Naito T, Torisu T, Hirano A, Umeno J, Fuyuno Y, Li D, Nakano T, Izumiyama Y, Ichikawa R, Hiramoto K, Moroi R, Kuroha M, Kanazawa Y, Shiga H, Tokunaga K, Nakamura M, Esaki M, Matsumoto T, McGovern DPB, Nagasaki M, Kinouchi Y, Masamune A. Okamoto D, et al. Among authors: tokunaga k. Inflamm Bowel Dis. 2020 Jul 17;26(8):1177-1187. doi: 10.1093/ibd/izaa033. Inflamm Bowel Dis. 2020. PMID: 32072174
1,739 results