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A second generation human haplotype map of over 3.1 million SNPs
TLDR
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated. Expand
SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells
TLDR
It is suggested that SMYD3 has histone methyltransferase activity and plays an important role in transcriptional regulation as a member of an RNA polymerase complex and activation ofSMYD3 may be a key factor in human carcinogenesis. Expand
HJURP Is a Cell-Cycle-Dependent Maintenance and Deposition Factor of CENP-A at Centromeres
TLDR
HJURP centromeric localization is cell cycle regulated, and its transient appearance at the centromere coincides precisely with the proposed time window for new CENP-A deposition and maintenance at centromeres. Expand
A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage
TLDR
The results indicate that p53R2 encodes a ribonucleotide reductase that is directly involved in the p53 checkpoint for repair of damaged DNA. Expand
p53AIP1, a Potential Mediator of p53-Dependent Apoptosis, and Its Regulation by Ser-46-Phosphorylated p53
TLDR
The results suggest that p53AIP1 is likely to play an important role in mediating p53-dependent apoptosis, and phosphorylation of Ser-46 regulates the transcriptional activation of this apoptosis-inducing gene. Expand
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
TLDR
The data implicate KCNQ1 as a diabetes susceptibility gene in groups of different ancestries as well as in two independent Japanese populations, and the risk allele of this polymorphism was associated with impairment of insulin secretion according to the homeostasis model assessment of β-cell function or the corrected insulin response. Expand
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
TLDR
New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout. Expand
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. Expand
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
TLDR
Clinical and genetic information of 5 Japanese patients with Bardet-Biedl syndrome is summarized and it is found that rare liver fibrosis was detected in two patients, while only two patients had renal dysfunction, thought to be a universal symptom. Expand
AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1
TLDR
Adenovirus mediated gene transfer of wild-type AXIN1 induced apoptosis in hepatocellular and colorectal cancer cells that had accumulated β-catenin as a consequence of either APC, CTNNB1 orAXIN1 mutation, suggesting that axin may be an effective therapeutic molecule for suppressing growth of hepato cellular andcolorectAL cancers. Expand
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