Inui K - Search Results

1

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: inui k. 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

2

A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.

Akagi M, Inui K, Tsukamoto H, Sakai N, Muramatsu T, Yamada M, Matsuzaki K, Goto Y, Nonaka I, Okada S. Akagi M, et al. Among authors: inui k. Neuromuscul Disord. 2002 Jan;12(1):53-5. doi: 10.1016/s0960-8966(01)00242-5. Neuromuscul Disord. 2002. PMID: 11731285

3

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: inui k. 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

4

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: inui k. 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

5

Analysis of recombinant human saposin A expressed by Pichia pastoris.

Yamada M, Inui K, Hamada D, Nakahira K, Yanagihara K, Sakai N, Nishigaki T, Ozono K, Yanagihara I. Yamada M, et al. Among authors: inui k. Biochem Biophys Res Commun. 2004 May 28;318(2):588-93. doi: 10.1016/j.bbrc.2004.04.069. Biochem Biophys Res Commun. 2004. PMID: 15120640

6

Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.

Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, Tokuhara D, Nishimura Y, Yorifuji T, Igarashi N, Ohura T, Shimizu T, Inui K, Sakai N, Abukawa D, Miyakawa T, Matsumori M, Ban K, Kaneko H, Yamano T. Tamamori A, et al. Among authors: inui k. Pediatr Res. 2004 Oct;56(4):608-14. doi: 10.1203/01.PDR.0000139713.64264.BC. Epub 2004 Aug 4. Pediatr Res. 2004. PMID: 15295082

7

In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Okano Y, Hase Y, Kawajiri M, Nishi Y, Inui K, Sakai N, Tanaka Y, Takatori K, Kajiwara M, Yamano T. Okano Y, et al. Among authors: inui k. Pediatr Res. 2004 Nov;56(5):714-9. doi: 10.1203/01.PDR.0000141520.06524.51. Epub 2004 Aug 19. Pediatr Res. 2004. PMID: 15319459 Clinical Trial.

8

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Vega H, et al. Among authors: inui k. Nat Genet. 2005 May;37(5):468-70. doi: 10.1038/ng1548. Epub 2005 Apr 10. Nat Genet. 2005. PMID: 15821733

9

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW. Gordillo M, et al. Among authors: inui k. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14. Hum Mol Genet. 2008. PMID: 18411254

10

Novel Membrane Designed Polyether Sulfone Filter Reduces Filtration Membrane Obstruction Rate in Drop-Type With Adjustable Concentrator Cell-Free and Concentrated Ascites Reinfusion Therapy (DC-CART).

Inui K, Yamada Y, Aomura D, Sonoda K, Harada M, Hashimoto K, Kamijo Y. Inui K, et al. Artif Organs. 2024 Dec 23. doi: 10.1111/aor.14932. Online ahead of print. Artif Organs. 2024. PMID: 39714023

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