19 Result(s)

Article

Germline IKAROS mutation associated with primary immunodeficiency that progressed to T-cell acute lymphoblastic leukemia

N Yoshida, H Sakaguchi, H Muramatsu, Y Okuno, C Song, S Dovat, A Shimada… in Leukemia (2017)

Article

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis

Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identif...

K. Sukegawa-Hayasaka, Z. Kato, H. Nakamura… in Journal of Inherited Metabolic Disease (2006)

Article

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.

L. Mrázová, T. Fukao, K. Hálovd, E. Gregová… in Journal of Inherited Metabolic Disease (2005)

Article

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

Summary: SCOT deficiency presents with persistent excess of ketones leading to ketoacidosis. Here we report patient GS15, homozygous for a novel R217X mutation, who had the first apparent ketoacidotic crisis a...

N. Longo, T. Fukao, R. Singh, M. Pasquali… in Journal of Inherited Metabolic Disease (2004)

Article

Construction of a comparative RFLP map of Echinochloa crus-galli toward QTL analysis of flooding tolerance

To analyze quantitative trait loci (QTLs) affecting flooding tolerance and other physiological and morphological traits in Echinochloa crus-galli, a restriction fragment length polymorphism (RFLP) map was constru...

T. Fukao, A. H. Paterson, M. A. Hussey, Y. Yamasue… in Theoretical and Applied Genetics (2004)

Article

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism affecting isoleucine and ketone bodies in the catabolic process. Mutation analysis and expression analysis of mutant cDNA...

T. Fukao, G.-X. Zhang, N. Sakura, T. Kubo… in Journal of Inherited Metabolic Disease (2003)

Article

Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency

Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization, characterized by intermittent ketoacidotic crises and persistent ketosis. The diagnosis was suspected in ...

G. T. Berry, T. Fukao, G. A. Mitchell, A. Mazur… in Journal of Inherited Metabolic Disease (2001)

Article

Hyperfine interactions of ¹⁹O in TiO₂ and quadrupole moments of ^13,19O

The electric quadrupole interaction of ¹⁹O(I^π=(5/2)⁺, T_1/2=27.0 s) in TiO₂ single crystal was studied in detail by means of the β-NQR to determine the electric quadrupole moments Q of short-lived β-emitting nucle...

K. Sato, T. Miyake, A. Morishita, K. Matsuta, T. Minamisono… in Hyperfine Interactions (1999)

Article

Perinatal mumps associated with bronchiolitis and respiratory distress

T. Fukao, A. Hirano, K. Nakamura, Y. Yamazaki, A. Yamada… in European Journal of Pediatrics (1998)

Article

Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy

A. C. Sewell, J. Herwig, I. Wiegratz, W. Lehnert… in Journal of Inherited Metabolic Disease (1998)

Article

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty-five ...

K. Isogai, K. Sukegawa, S. Tomatsu, T. Fukao… in Journal of Inherited Metabolic Disease (1998)

Article

Hyperfine interaction of¹³O and²³Mg implanted in Pt

The spin relaxation timeT ₁ for short-lived beta emitters¹³O and²³Mg implanted in Pt have been measured for the first time;T ₁T¹³O) = 2.90 ±0.65 Ks andT ₁ T(²³Mg) = 1665 ±140 Ks. The Knight shift for¹³O in Pt was...

K. Matsuta, M. Fukuda, M. Tanigaki, T. Minamisono, Y. Nojiri… in Hyperfine Interactions (1996)

Article

Magnetic moments of proton drip-line nuclei¹³O and⁹C

The magnetic moments of the proton drip-line nuclei¹³O(I ^π = 3/2⁻,T _1/2 = 8.6 ms) and 9C(I ^π = 3/2⁻,T _1/2 = 126 ms) have been determined for the first time through the combined techniques of polarized radioactive...

K. Matsuta, T. Minamisono, M. Tanigaki, M. Fukuda, Y. Nojiri… in Hyperfine Interactions (1996)

Article

Assignment of the mouse ataxia-telangiectasia gene (Atm) to mouse Chromosome 9

Y. -R. **a, C. L. Welch, C. H. Warden, E. Lange, T. Fukao, A. J. Lusis… in Mammalian Genome (1996)

Article

A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency

H. Sakazaki, K. Hirayama, S. Murakami… in Journal of Inherited Metabolic Disease (1995)

Article

Molecular basis of 3-ketothiolase deficiency: Detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase

T. Fukao, S. Yamaguchi, A. Wakazono, H. Okamoto… in Journal of Inherited Metabolic Disease (1992)

Article

Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency

T. Fukao, S. Yamaguchi, H. Nagasawa, M. Kano… in Journal of Inherited Metabolic Disease (1990)

Article

Kreuzfraktionierung von Styrol-Acrylnitril-Copolymerem

S. Teramachi, T. Fukao in Colloid and Polymer Science (1977)