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SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: okano h. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967
Characterization of the RNA-binding protein Musashi1 in zebrafish.
Shibata S, Umei M, Kawahara H, Yano M, Makino S, Okano H. Shibata S, et al. Among authors: okano h. Brain Res. 2012 Jun 26;1462:162-73. doi: 10.1016/j.brainres.2012.01.068. Epub 2012 Feb 3. Brain Res. 2012. PMID: 22429745 Free article.
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.
Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A, Kabashima K, Otsuka A, Ishiko A, Tanese K, Miyakawa S, Sakabe J, Kuwahara M, Amagai M, Okano H, Suematsu M, Kudoh J. Sasaki T, et al. Among authors: okano h. J Dermatol Sci. 2012 Oct;68(1):36-44. doi: 10.1016/j.jdermsci.2012.07.008. Epub 2012 Jul 27. J Dermatol Sci. 2012. PMID: 22906430
A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis.
Sasaki T, Shiohama A, Kubo A, Kawasaki H, Ishida-Yamamoto A, Yamada T, Hachiya T, Shimizu A, Okano H, Kudoh J, Amagai M. Sasaki T, et al. Among authors: okano h. J Allergy Clin Immunol. 2013 Nov;132(5):1111-1120.e4. doi: 10.1016/j.jaci.2013.08.027. Epub 2013 Sep 20. J Allergy Clin Immunol. 2013. PMID: 24060273
Global gene expression analysis following spinal cord injury in non-human primates.
Nishimura S, Sasaki T, Shimizu A, Yoshida K, Iwai H, Koya I, Kobayashi Y, Itakura G, Shibata S, Ebise H, Horiuchi K, Kudoh J, Toyama Y, Anderson AJ, Okano H, Nakamura M. Nishimura S, et al. Among authors: okano h. Exp Neurol. 2014 Nov;261:171-9. doi: 10.1016/j.expneurol.2014.05.021. Epub 2014 May 27. Exp Neurol. 2014. PMID: 24873731
1,671 results