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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Feichtinger RG, et al. Among authors: yagi m. Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942965 Free PMC article.
Mutation of His 834 in human anion exchanger 1 affects substrate binding.
Takazaki S, Abe Y, Yamaguchi T, Yagi M, Ueda T, Kang D, Hamasaki N. Takazaki S, et al. Among authors: yagi m. Biochim Biophys Acta. 2010 May;1798(5):903-8. doi: 10.1016/j.bbamem.2010.01.019. Epub 2010 Feb 2. Biochim Biophys Acta. 2010. PMID: 20132789 Free article.
Mitochondrial p32/C1QBP is highly expressed in prostate cancer and is associated with shorter prostate-specific antigen relapse time after radical prostatectomy.
Amamoto R, Yagi M, Song Y, Oda Y, Tsuneyoshi M, Naito S, Yokomizo A, Kuroiwa K, Tokunaga S, Kato S, Hiura H, Samori T, Kang D, Uchiumi T. Amamoto R, et al. Among authors: yagi m. Cancer Sci. 2011 Mar;102(3):639-47. doi: 10.1111/j.1349-7006.2010.01828.x. Epub 2011 Jan 23. Cancer Sci. 2011. PMID: 21205079 Free article.
1,428 results