Komaki S - Search Results

1

Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2).

Hoshide R, Ikeda Y, Karashima S, Matsuura T, Komaki S, Kishino T, Niikawa N, Endo F, Matsuda I. Hoshide R, et al. Among authors: komaki s. Genomics. 1996 Dec 1;38(2):174-8. doi: 10.1006/geno.1996.0613. Genomics. 1996. PMID: 8954799

2

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.

Matsuura T, Hoshide R, Komaki S, Kiwaki K, Endo F, Nakamura S, Jitosho T, Matsuda I. Matsuura T, et al. Among authors: komaki s. J Inherit Metab Dis. 1995;18(3):273-82. doi: 10.1007/BF00710415. J Inherit Metab Dis. 1995. PMID: 7474892

3

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.

Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K, et al. Matsuura T, et al. Among authors: komaki s. Hum Mutat. 1994;3(4):402-6. doi: 10.1002/humu.1380030415. Hum Mutat. 1994. PMID: 8081398 No abstract available.

4

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.

Matsuura T, Hoshide R, Setoyama C, Komaki S, Kiwaki K, Endo F, Nishikawa S, Matsuda I. Matsuura T, et al. Among authors: komaki s. Hum Genet. 1994 Feb;93(2):129-34. doi: 10.1007/BF00210596. Hum Genet. 1994. PMID: 8112735

5

Correction of ornithine transcarbamylase deficiency in adult spf(ash) mice and in OTC-deficient human hepatocytes with recombinant adenoviruses bearing the CAG promoter.

Kiwaki K, Kanegae Y, Saito I, Komaki S, Nakamura K, Miyazaki JI, Endo F, Matsuda I. Kiwaki K, et al. Among authors: komaki s. Hum Gene Ther. 1996 May 1;7(7):821-30. doi: 10.1089/hum.1996.7.7-821. Hum Gene Ther. 1996. PMID: 8860834

6

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

Matsuda I, Matsuura T, Nishiyori A, Komaki S, Hoshide R, Matsumoto T, Funakoshi M, Kiwaki K, Endo F, Hata A, Shimadzu M, Yoshino M. Matsuda I, et al. Among authors: komaki s. J Med Genet. 1996 Aug;33(8):645-8. doi: 10.1136/jmg.33.8.645. J Med Genet. 1996. PMID: 8863155 Free PMC article.

7

Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

Komaki S, Matsuura T, Oyanagi K, Hoshide R, Kiwaki K, Endo F, Shimadzu M, Matsuda I. Komaki S, et al. Am J Med Genet. 1997 Mar 17;69(2):177-81. doi: 10.1002/(sici)1096-8628(19970317)69:2<177::aid-ajmg12>3.0.co;2-i. Am J Med Genet. 1997. PMID: 9056557

8

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

Hoshide R, Matsuura T, Komaki S, Koike E, Ueno I, Matsuda I. Hoshide R, et al. Among authors: komaki s. J Inherit Metab Dis. 1993;16(5):857-62. doi: 10.1007/BF00714278. J Inherit Metab Dis. 1993. PMID: 8295401 No abstract available.

9

[Gene therapy for ornithine transcarbamylase deficiency].

Matsuda I, Kiwaki K, Komaki S, Hoshide R, Matsuura T, Endo F. Matsuda I, et al. Among authors: komaki s. Tanpakushitsu Kakusan Koso. 1995 Dec;40(17):2759-64. Tanpakushitsu Kakusan Koso. 1995. PMID: 8584733 Review. Japanese. No abstract available.

10

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.

Shimadzu M, Matsumoto H, Matsuura T, Kobayashi K, Komaki S, Kiwaki K, Hoshide R, Endo F, Saheki T, Matsuda I. Shimadzu M, et al. Among authors: komaki s. Hum Mutat. 1998;Suppl 1:S5-7. doi: 10.1002/humu.1380110103. Hum Mutat. 1998. PMID: 9452024 No abstract available.

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