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Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Aoki Y, et al. Among authors: nagashima t. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. Am J Hum Genet. 2013. PMID: 23791108 Free PMC article.
RNA sequencing-based identification of aberrant imprinting in cloned mice.
Okae H, Matoba S, Nagashima T, Mizutani E, Inoue K, Ogonuki N, Chiba H, Funayama R, Tanaka S, Yaegashi N, Nakayama K, Sasaki H, Ogura A, Arima T. Okae H, et al. Among authors: nagashima t. Hum Mol Genet. 2014 Feb 15;23(4):992-1001. doi: 10.1093/hmg/ddt495. Epub 2013 Oct 8. Hum Mol Genet. 2014. PMID: 24105465
Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia.
Fujiwara T, Fukuhara N, Funayama R, Nariai N, Kamata M, Nagashima T, Kojima K, Onishi Y, Sasahara Y, Ishizawa K, Nagasaki M, Nakayama K, Harigae H. Fujiwara T, et al. Among authors: nagashima t. Ann Hematol. 2014 Sep;93(9):1515-22. doi: 10.1007/s00277-014-2090-4. Epub 2014 Apr 30. Ann Hematol. 2014. PMID: 24782121 Free PMC article.
1,166 results