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Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, Mishima H, Kinoshita A, Mizushima T, Hamada S, Hamada K, Kawamoto N, Kadowaki S, Honda Y, Izawa K, Nishikomori R, Tsumura M, Yamashita Y, Tamura S, Orimo T, Ozasa T, Kato T, Sasaki I, Fukuda-Ohta Y, Wakaki-Nishiyama N, Inaba Y, Kunimoto K, Okada S, Taketani T, Nakanishi K, Murata S, Yoshiura KI, Kaisho T. Kanazawa N, et al. Nat Commun. 2021 Nov 24;12(1):6819. doi: 10.1038/s41467-021-27085-y. Nat Commun. 2021. PMID: 34819510 Free PMC article.
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K. Arima K, et al. Among authors: kanazawa n. Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14914-9. doi: 10.1073/pnas.1106015108. Epub 2011 Aug 18. Proc Natl Acad Sci U S A. 2011. PMID: 21852578 Free PMC article.
[Nakajo-Nishimura syndrome].
Kanazawa N, Arima K, Ida H, Yoshiura K, Furukawa F. Kanazawa N, et al. Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):388-400. doi: 10.2177/jsci.34.388. Nihon Rinsho Meneki Gakkai Kaishi. 2011. PMID: 22041427 Free article. Review. Japanese.
Is CANDLE the best nomenclature?
Kanazawa N, Kunimoto K, Ishii N, Inamo Y, Furukawa F. Kanazawa N, et al. Br J Dermatol. 2014 Sep;171(3):659-60. doi: 10.1111/bjd.12962. Epub 2014 Aug 5. Br J Dermatol. 2014. PMID: 24628124 No abstract available.
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O, Ogi T, Furukawa F, Inoue M, Yoshiura K, Kanazawa N. Tamura S, et al. Among authors: kanazawa n. Clin Immunol. 2015 Oct;160(2):255-60. doi: 10.1016/j.clim.2015.07.004. Epub 2015 Jul 11. Clin Immunol. 2015. PMID: 26172957
A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.
Tamura S, Tamura T, Gima H, Nishikawa A, Okamoto Y, Kanazawa N, Relvas L, Cunha E, Frances McMullin M, Bento C. Tamura S, et al. Among authors: kanazawa n. Intern Med. 2015;54(18):2389-93. doi: 10.2169/internalmedicine.54.4520. Epub 2015 Sep 15. Intern Med. 2015. PMID: 26370867 Free article.
374 results