Sakai N - Search Results

1

Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.

Miyoshi Y, Sakai N, Hamada Y, Tachibana M, Hasegawa Y, Kiyohara Y, Yamada H, Murakami M, Kondou H, Kimura-Ohba S, Mine J, Sato T, Kamio N, Ueda H, Suzuki Y, Shiomi M, Ohta H, Shimozawa N, Ozono K. Miyoshi Y, et al. Among authors: sakai n. Endocr J. 2010;57(11):965-72. doi: 10.1507/endocrj.k10e-204. Epub 2010 Sep 16. Endocr J. 2010. PMID: 20859061 Free article.

2

Involvement of phosphoinositide 3-kinase signaling pathway in chondrocytic differentiation of ATDC5 cells: application of a gene-trap mutagenesis.

Ihara-Watanabe M, Uchihashi T, Miyauchi Y, Sakai N, Yamagata M, Ozono K, Michigami T. Ihara-Watanabe M, et al. Among authors: sakai n. J Cell Biochem. 2004 Oct 1;93(2):418-26. doi: 10.1002/jcb.20185. J Cell Biochem. 2004. PMID: 15368367

3

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

Takahashi K, Kogaki S, Kurotobi S, Nasuno S, Ohta M, Okabe H, Wada K, Sakai N, Taniike M, Ozono K. Takahashi K, et al. Among authors: sakai n. Eur J Pediatr. 2005 Aug;164(8):497-500. doi: 10.1007/s00431-005-1679-y. Epub 2005 May 12. Eur J Pediatr. 2005. PMID: 15889278

4

Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.

Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K. Kawai M, et al. Among authors: sakai n. Brain Dev. 2006 Jan;28(1):60-2. doi: 10.1016/j.braindev.2005.03.011. Epub 2005 Sep 15. Brain Dev. 2006. PMID: 16168595

5

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.

Xu C, Sakai N, Taniike M, Inui K, Ozono K. Xu C, et al. Among authors: sakai n. J Hum Genet. 2006;51(6):548-554. doi: 10.1007/s10038-006-0396-3. Epub 2006 Apr 11. J Hum Genet. 2006. PMID: 16607461

6

Sleep disordered breathing in childhood-onset acid maltase deficiency.

Nabatame S, Taniike M, Sakai N, Kato-Nishimura K, Mohri I, Kagitani-Shimono K, Okinaga T, Tachibana N, Ozono K. Nabatame S, et al. Among authors: sakai n. Brain Dev. 2009 Mar;31(3):234-9. doi: 10.1016/j.braindev.2008.03.007. Epub 2008 May 21. Brain Dev. 2009. PMID: 18495398

7

Lrp6 hypomorphic mutation affects bone mass through bone resorption in mice and impairs interaction with Mesd.

Kubota T, Michigami T, Sakaguchi N, Kokubu C, Suzuki A, Namba N, Sakai N, Nakajima S, Imai K, Ozono K. Kubota T, et al. Among authors: sakai n. J Bone Miner Res. 2008 Oct;23(10):1661-71. doi: 10.1359/jbmr.080512. J Bone Miner Res. 2008. PMID: 18505367 Free article.

8

Umbilical cord-blood transplantations from unrelated donors in patients with inherited metabolic diseases: Single-institute experience.

Tokimasa S, Ohta H, Takizawa S, Kusuki S, Hashii Y, Sakai N, Taniike M, Ozono K, Hara J. Tokimasa S, et al. Among authors: sakai n. Pediatr Transplant. 2008 Sep;12(6):672-6. doi: 10.1111/j.1399-3046.2007.00876.x. Pediatr Transplant. 2008. PMID: 18798361

9

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Otomo T, et al. Among authors: sakai n. J Hum Genet. 2009 Mar;54(3):145-51. doi: 10.1038/jhg.2009.3. Epub 2009 Feb 6. J Hum Genet. 2009. PMID: 19197337

10

Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation.

Araya K, Sakai N, Mohri I, Kagitani-Shimono K, Okinaga T, Hashii Y, Ohta H, Nakamichi I, Aozasa K, Taniike M, Ozono K. Araya K, et al. Among authors: sakai n. Mol Genet Metab. 2009 Nov;98(3):255-63. doi: 10.1016/j.ymgme.2009.05.006. Epub 2009 May 24. Mol Genet Metab. 2009. PMID: 19556155

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