Published in J Hum Genet on January 01, 2002
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Drug-induced cholestasis. Hepatology (2011) 1.39
Bile acid transporters in health and disease. Xenobiotica (2008) 1.24
Modulation of human placental P-glycoprotein expression and activity by MDR1 gene polymorphisms. Biochem Pharmacol (2009) 1.02
Ethnicity-related polymorphisms and haplotypes in the human ABCB1 gene. Pharmacogenomics (2007) 0.93
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing. Mol Med Rep (2014) 0.89
Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations. Mol Aspects Med (2013) 0.85
Pharmacogenomic strategy for individualizing antidepressant therapy. Dialogues Clin Neurosci (2008) 0.81
Abcb10 role in heme biosynthesis in vivo: Abcb10 knockout in mice causes anemia with protoporphyrin IX and iron accumulation. Mol Cell Biol (2014) 0.80
Role of multidrug transporters in neurotherapeutics. Ann Indian Acad Neurol (2009) 0.80
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
International network of cancer genome projects. Nature (2010) 20.35
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet (2008) 9.39
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet (2008) 8.63
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet (2009) 8.11
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet (2003) 7.98
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet (2003) 7.04
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet (2002) 6.46
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet (2005) 5.35
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat Genet (2009) 5.29
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet (2012) 4.84
SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. Nat Cell Biol (2004) 4.72
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet (2003) 4.61
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet (2007) 4.31
HJURP is a cell-cycle-dependent maintenance and deposition factor of CENP-A at centromeres. Cell (2009) 3.94
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma. N Engl J Med (2011) 3.80
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Recognition of hemi-methylated DNA by the SRA protein UHRF1 by a base-flipping mechanism. Nature (2008) 3.62
Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes (2007) 3.24
Significant effect of polymorphisms in CYP2D6 and ABCC2 on clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients. J Clin Oncol (2010) 3.21
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet (2012) 3.19
Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. Nat Genet (2011) 3.19
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet (2005) 3.15
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am J Hum Genet (2008) 3.12
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Gastroenterology (2009) 3.04
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors. J Clin Oncol (2010) 3.02
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet (2005) 3.00
Amino acid substitution in hepatitis C virus core region and genetic variation near the interleukin 28B gene predict viral response to telaprevir with peginterferon and ribavirin. Hepatology (2010) 3.00
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. Nat Genet (2010) 2.92
Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer. Nat Genet (2008) 2.89
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. Nat Genet (2010) 2.81
Glypican-3, overexpressed specifically in human hepatocellular carcinoma, is a novel tumor marker. Biochem Biophys Res Commun (2003) 2.78
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet (2007) 2.77
DKK1, a negative regulator of Wnt signaling, is a target of the beta-catenin/TCF pathway. Oncogene (2004) 2.73
Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet (2012) 2.70
Overexpression of LSD1 contributes to human carcinogenesis through chromatin regulation in various cancers. Int J Cancer (2011) 2.42
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction. J Hum Genet (2006) 2.41
JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res (2002) 2.35
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. Nat Genet (2010) 2.34
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet (2012) 2.31
ICBP90, an E2F-1 target, recruits HDAC1 and binds to methyl-CpG through its SRA domain. Oncogene (2004) 2.30
A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet (2006) 2.29
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. Nat Genet (2009) 2.26
Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses. J Hum Genet (2004) 2.20
Genetic variations in the gene encoding ELMO1 are associated with susceptibility to diabetic nephropathy. Diabetes (2005) 2.12
Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism. J Hum Genet (2002) 2.11
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. Nat Genet (2011) 2.10
Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers. Nat Genet (2011) 2.09
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nat Genet (2010) 2.08
A variable number of tandem repeats polymorphism in an E2F-1 binding element in the 5' flanking region of SMYD3 is a risk factor for human cancers. Nat Genet (2005) 2.08
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet (2012) 2.05
Ganglioside GM3 participates in the pathological conditions of insulin resistance. J Biol Chem (2001) 2.04
Variations in the FTO gene are associated with severe obesity in the Japanese. J Hum Genet (2008) 2.03
Association of a novel long non-coding RNA in 8q24 with prostate cancer susceptibility. Cancer Sci (2010) 2.03
A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population. Hum Mol Genet (2011) 1.96
Impact of CYP2D6*10 on recurrence-free survival in breast cancer patients receiving adjuvant tamoxifen therapy. Cancer Sci (2008) 1.95
Expression profiles of non-small cell lung cancers on cDNA microarrays: identification of genes for prediction of lymph-node metastasis and sensitivity to anti-cancer drugs. Oncogene (2003) 1.91
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese. Hum Mol Genet (2011) 1.91
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. Nat Genet (2012) 1.90
Enhanced SMYD3 expression is essential for the growth of breast cancer cells. Cancer Sci (2006) 1.90
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations. Nat Genet (2010) 1.90
Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease. J Hum Genet (2002) 1.88
Identification of promiscuous KIF20A long peptides bearing both CD4+ and CD8+ T-cell epitopes: KIF20A-specific CD4+ T-cell immunity in patients with malignant tumor. Clin Cancer Res (2013) 1.87
Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86
When good drugs go bad. Nature (2007) 1.85
HCV substitutions and IL28B polymorphisms on outcome of peg-interferon plus ribavirin combination therapy. Gut (2010) 1.85
Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet (2010) 1.83
HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease. Gastroenterology (2011) 1.83
An integrated database of chemosensitivity to 55 anticancer drugs and gene expression profiles of 39 human cancer cell lines. Cancer Res (2002) 1.82
Dysregulation of PRMT1 and PRMT6, Type I arginine methyltransferases, is involved in various types of human cancers. Int J Cancer (2011) 1.81
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. Hum Genet (2010) 1.75
Identification of membrane-type matrix metalloproteinase-1 as a target of the beta-catenin/Tcf4 complex in human colorectal cancers. Oncogene (2002) 1.75
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). PLoS Genet (2011) 1.75
A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population. Nat Genet (2006) 1.73