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Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages
TLDR
The present findings suggest that the Ainu retain a certain degree of their own genetic uniqueness, while having higher genetic affinities with other regional populations in Japan and the Nivkhi among Asian populations. Expand
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
TLDR
It is concluded that GSTM1 positive/null and RFC1 G80A polymorphisms could be predictors for hepatotoxicity, and the MTHFR C677T polymorphism is associated with elimination of methotrexate. Expand
Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind).
TLDR
The findings provide some evidence that G6PD Viangchan and Mahidol are common Southeast Asian variants and support the theory of genetic drifts throughout Southeast Asia. Expand
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
TLDR
Using a combination of complementary DNA (cDNA) and chromosome analysis in addition to conventional genomic DNA-based method, mutation detection was successfully accomplished in all cases, and the largest mutation database of Japanese dystrophinopathy was established. Expand
Effects of polymorphisms of MDR1, MRP1, and MRP2 genes on their mRNA expression levels in duodenal enterocytes of healthy Japanese subjects.
TLDR
Polymorphisms in the ATP-binding cassette (ABC) transporter genes, MDR1, MRP1 and MRP2, were associated with their respective mRNA expression levels in duodenal enterocytes of 13 healthy Japanese volunteers to support the lower serum concentrations of digoxin after single oral administration in the subjects with the mutant T-allele at position 3435. Expand
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
TLDR
It is predicted that an optimal multiexon skipping leading to the del45‐55 artificial dystrophin could transform the DMD phenotype into the asymptomatic or mild BMD phenotype, and this multiple‐exon skipping could theoretically rescue up to 63% of DMD patients with a deletion. Expand
Molecular Identification and Characterization of Novel Membrane-bound Metalloprotease, the Soluble Secreted Form of Which Hydrolyzes a Variety of Vasoactive Peptides*
TLDR
In vitroenzymological analysis of the recombinant soluble form of SEP demonstrated that it hydrolyzes a variety of vasoactive peptides, including endothelin-1, atrial natriuretic peptide, and angiotensin I, and suggests that it may be involved in the metabolism of biologically active peptides intracellulary as well as extracellularly. Expand
Effect of the mutation (C3435T) at exon 26 of the MDR1 gene on expression level of MDR1 messenger ribonucleic acid in duodenal enterocytes of healthy Japanese subjects
TLDR
A lower plasma concentration of the substrates for CYP3A4 in subjects harboring the C3435T mutation of the MDR1 gene was suggested, reasonably explaining the lower digoxin serum concentration after administration of a single oral dose to subjects Harboring a mutant T allele. Expand
Circadian clock genes directly regulate expression of the Na(+)/H(+) exchanger NHE3 in the kidney.
TLDR
Evidence is presented that renal tubular NHE3, the Na(+)/H(+) exchanger critical for systemic electrolyte and acid-base homeostasis, is a clock-controlled gene regulated directly by CLOCK:BMAL1 heterodimers in kidneys. Expand
Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome
TLDR
It is suggested that rituximab may be an effective treatment for recurrence of nephrotic syndrome after transplantation and that activated B cells may play a pivotal role in the recurrence in nephrosis after renal transplantation. Expand
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