Matsuura T - 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: matsuura t. Genomics. 1996 Dec 1;38(2):174-8. doi: 10.1006/geno.1996.0613. Genomics. 1996. PMID: 8954799

2

Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization.

Hoshide R, Soejima H, Ohta T, Niikawa N, Haraguchi Y, Matsuura T, Endo F, Matsuda I. Hoshide R, et al. Among authors: matsuura t. Genomics. 1995 Jul 1;28(1):124-5. doi: 10.1006/geno.1995.1119. Genomics. 1995. PMID: 7590739 No abstract available.

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. 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. Hum Genet. 1994 Feb;93(2):129-34. doi: 10.1007/BF00210596. Hum Genet. 1994. PMID: 8112735

5

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I. Hoshide R, et al. Among authors: matsuura t. J Clin Invest. 1993 May;91(5):1884-7. doi: 10.1172/JCI116405. J Clin Invest. 1993. PMID: 8486760 Free PMC article.

6

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

Matsuura T, Hoshide R, Fukushima M, Sakiyama T, Owada M, Matsuda I. Matsuura T, et al. J Inherit Metab Dis. 1993;16(1):31-8. doi: 10.1007/BF00711312. J Inherit Metab Dis. 1993. PMID: 8487501

7

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.

Hoshide R, Matsuura T, Sagara Y, Kubo T, Shimadzu M, Endo F, Matsuda I. Hoshide R, et al. Among authors: matsuura t. Am J Med Genet. 1996 Aug 23;64(3):459-64. doi: 10.1002/(SICI)1096-8628(19960823)64:3<459::AID-AJMG3>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8862622

8

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: matsuura t. 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.

9

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. Among authors: matsuura t. 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

10

[Ornithine transcarbamylase deficiency (OTCD)].

Matsuura T, Matsuda I. Matsuura T, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):170-4. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590019 Review. Japanese. No abstract available.

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