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Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis
TLDR
The results imply that the PADI4 haplotype associated with susceptibility to rheumatoid arthritis increases production of citrullinated peptides acting as autoantigens, resulting in heightened risk of developing the disease.
Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction
TLDR
Results indicate that variants in the LTA are risk factors for myocardial infraction and implicate LTA in the pathogenesis of the disorder.
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.
TLDR
The results suggest that the genetic variations in the TNFSF15 gene contribute to the susceptibility to IBD in the Japanese and European populations.
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis
TLDR
Findings provide another functional link between extracellular matrix proteins, TGF-β activity and disease, suggesting new therapeutic strategies for osteoarthritis.
Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-α secretion in vitro
TLDR
It is shown that LTA protein binds to galectin-2, a member of the galactose-binding lectin family, which suggests a link between the LTA cascade and the pathogenesis of MI.
Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction
Nature Genet. 32, 650–654 (2002). Published online 11 November 2002; doi:10.1038/ng1047 A typographical error in the third sentence of the abstract resulted in the P value for the association being
Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease
TLDR
The reported genetic variants that were indicated to be causative in the Caucasian population were completely absent in or were not associated with Japanese CD patients, implying significant differences in genetic background with CD susceptibility among different ethnic groups.
Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase
TLDR
High-resolution maps of single-nucleotide polymorphisms detected in genes encoding three organic-anion transporters, three organic anion-transporting polypeptides, and three nicotinamide adenine dinucleotide, reduced:ubiquinone oxidoreductase flavoproteins will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.
A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population
TLDR
A common SNP in the proteasome subunit α type 6 gene (PSMA6) conferring risk of myocardial infarction in the Japanese population is found and implicate this PSMA6 SNP as a previously unknown genetic risk factor for myocardials.
Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population
TLDR
DNA from 48 Japanese individuals is screened for single-nucleotide polymorphisms in six methyltransferase genes to contribute to a more precise understanding of possible correlations between genotypes and disease-susceptibility phenotypes or risk for side effects from drugs.
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