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Page 1
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Kubo A, et al. Among authors: heike t. Am J Hum Genet. 2013 Nov 7;93(5):945-56. doi: 10.1016/j.ajhg.2013.09.015. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207119 Free PMC article.
Aicardi-Goutières syndrome is caused by IFIH1 mutations.
Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R, Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, Fujita T, Heike T. Oda H, et al. Among authors: heike t. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014.06.007. Am J Hum Genet. 2014. PMID: 24995871 Free PMC article.
Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
Kumaki S, Ishii N, Minegishi M, Ohashi Y, Hakozaki I, Nonoyama S, Imai K, Morio T, Tsuge I, Sakiyama Y, Miyanoshita A, Miura J, Mayumi M, Heike T, Katamura K, Takada H, Izumi I, Kamizono J, Hibi S, Sasaki H, Kimura M, Kikuta A, Date Y, Sako M, Tanaka H, Sano K, Sugamura K, Tsuchiya S. Kumaki S, et al. Among authors: heike t. Hum Genet. 2000 Oct;107(4):406-8. doi: 10.1007/s004390000381. Hum Genet. 2000. PMID: 11129345
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
Oda H, Sato T, Kunishima S, Nakagawa K, Izawa K, Hiejima E, Kawai T, Yasumi T, Doi H, Katamura K, Numabe H, Okamoto S, Nakase H, Hijikata A, Ohara O, Suzuki H, Morisaki H, Morisaki T, Nunoi H, Hattori S, Nishikomori R, Heike T. Oda H, et al. Among authors: heike t. Eur J Hum Genet. 2016 Mar;24(3):408-14. doi: 10.1038/ejhg.2015.119. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059841 Free PMC article.
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.
Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, Imagawa T, Iehara T, Takada H, Matsubayashi T, Tanaka H, Kawashima H, Kawakami K, Kagami S, Okafuji I, Yoshioka T, Adachi S, Heike T, Miyachi Y, Nakahata T. Saito M, et al. Among authors: heike t. Blood. 2008 Feb 15;111(4):2132-41. doi: 10.1182/blood-2007-06-094201. Epub 2007 Dec 6. Blood. 2008. PMID: 18063752 Free article.
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.
Tsumura M, Okada S, Sakai H, Yasunaga S, Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, Heike T, Nakahata T, Nishikomori R, Al-Muhsen S, Boisson-Dupuis S, Casanova JL, Alzahrani M, Shehri MA, Elghazali G, Takihara Y, Kobayashi M. Tsumura M, et al. Among authors: heike t. Hum Mutat. 2012 Sep;33(9):1377-87. doi: 10.1002/humu.22113. Epub 2012 Jun 7. Hum Mutat. 2012. PMID: 22573496 Free PMC article.
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y. Kanazawa N, et al. Among authors: heike t. Blood. 2005 Feb 1;105(3):1195-7. doi: 10.1182/blood-2004-07-2972. Epub 2004 Sep 30. Blood. 2005. PMID: 15459013 Free article.
281 results