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Evaluation of mutation effects on UGT1A1 activity toward 17beta-estradiol using liquid chromatography-tandem mass spectrometry.
Wada K, Takeuchi A, Saiki K, Sutomo R, Van Rostenberghe H, Yusoff NM, Laosombat V, Sadewa AH, Talib NA, Yusoff S, Lee MJ, Ayaki H, Nakamura H, Matsuo M, Nishio H. Wada K, et al. Among authors: takeuchi a. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Jun 21;838(1):9-14. doi: 10.1016/j.jchromb.2006.01.030. Epub 2006 Feb 28. J Chromatogr B Analyt Technol Biomed Life Sci. 2006. PMID: 16504606
A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population.
Yusoff S, Takeuchi A, Ashi C, Tsukada M, Ma'amor NH, Zilfalil BA, Yusoff NM, Nakamura T, Hirai M, Harahap IS, Gunadi, Lee MJ, Nishimura N, Takaoka Y, Morikawa S, Morioka I, Yokoyama N, Matsuo M, Nishio H, van Rostenberghe H. Yusoff S, et al. Among authors: takeuchi a. Pediatr Res. 2010 Apr;67(4):401-6. doi: 10.1203/PDR.0b013e3181d22f78. Pediatr Res. 2010. PMID: 20057336
Spinal muscular atrophy: from gene discovery to clinical trials.
Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, Kubo Y, Takeuchi A, Saito T, Takeshima Y, Tohyama Y, Tay SK, Low PS, Saito K, Nishio H. Nurputra DK, et al. Among authors: takeuchi a. Ann Hum Genet. 2013 Sep;77(5):435-63. doi: 10.1111/ahg.12031. Epub 2013 Jul 23. Ann Hum Genet. 2013. PMID: 23879295 Review.
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, Nishimura N, Kurashige T, Ohshita T, Nakajima H, Yamada H, Nishida Y, Toda S, Takanashi J, Takeuchi A, Tohyama Y, Kubo Y, Saito K, Takeshima Y, Matsuo M, Nishio H. Yamamoto T, et al. Among authors: takeuchi a. Brain Dev. 2014 Nov;36(10):914-20. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17. Brain Dev. 2014. PMID: 24359787
1,798 results