Published in Br J Clin Pharmacol on September 01, 2006
A urate gene-by-diuretic interaction and gout risk in participants with hypertension: results from the ARIC study. Ann Rheum Dis (2012) 1.06
Effect of hypouricaemic and hyperuricaemic drugs on the renal urate efflux transporter, multidrug resistance protein 4. Br J Pharmacol (2008) 0.94
Influence of ABCC2 and ABCC4 polymorphisms on tenofovir plasma concentrations in Thai HIV-infected patients. Antimicrob Agents Chemother (2015) 0.87
Functional characterization of nonsynonymous single nucleotide polymorphisms in the human organic anion transporter 4 (hOAT4). Br J Pharmacol (2009) 0.87
Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. Eur J Clin Pharmacol (2008) 0.86
Pharmacogenetics in chronic heart failure: new developments and current challenges. Curr Heart Fail Rep (2012) 0.84
Genetic variants of human organic anion transporter 4 demonstrate altered transport of endogenous substrates. Am J Physiol Renal Physiol (2010) 0.81
Pharmacogenomics of Methotrexate Membrane Transport Pathway: Can Clinical Response to Methotrexate in Rheumatoid Arthritis Be Predicted? Int J Mol Sci (2015) 0.80
Reduced renal clearance of cefotaxime in asians with a low-frequency polymorphism of OAT3 (SLC22A8). J Pharm Sci (2013) 0.78
Additive composite ABCG2, SLC2A9 and SLC22A12 scores of high-risk alleles with alcohol use modulate gout risk. J Hum Genet (2016) 0.77
A pharmacogenetic investigation of intravenous furosemide in decompensated heart failure: a meta-analysis of three clinical trials. Pharmacogenomics J (2016) 0.75
Renal Drug Transporters and Drug Interactions. Clin Pharmacokinet (2017) 0.75
Position-related renal perfusion disturbances as a possible underestimated mechanism in patients with resistant hypertension: a case vignette. Int Urol Nephrol (2017) 0.75
Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) 125.23
A new statistical method for haplotype reconstruction from population data. Am J Hum Genet (2001) 59.30
A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet (2003) 26.59
THE INTERACTION OF SELECTION AND LINKAGE. II. OPTIMUM MODELS. Genetics (1964) 10.77
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
The ABCs of solute carriers: physiological, pathological and therapeutic implications of human membrane transport proteinsIntroduction. Pflugers Arch (2003) 3.76
A single-nucleotide polymorphism tagging set for human drug metabolism and transport. Nat Genet (2004) 2.44
Molecular and cellular physiology of renal organic cation and anion transport. Physiol Rev (2004) 2.18
The SLC22 drug transporter family. Pflugers Arch (2003) 1.95
Impact of drug transporter studies on drug discovery and development. Pharmacol Rev (2003) 1.83
Polymorphisms of OATP-C (SLC21A6) and OAT3 (SLC22A8) genes: consequences for pravastatin pharmacokinetics. Clin Pharmacol Ther (2003) 1.74
Transport of organic anions across the basolateral membrane of proximal tubule cells. Rev Physiol Biochem Pharmacol (2003) 1.69
Interactions of human organic anion transporters with diuretics. J Pharmacol Exp Ther (2003) 1.25
Drug uptake systems in liver and kidney. Curr Drug Metab (2003) 1.14
Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6). J Pharmacol Exp Ther (2005) 1.13
The multispecific organic anion transporter family: properties and pharmacological significance. Trends Pharmacol Sci (2004) 1.01
Functional analysis of polymorphisms in the organic anion transporter, SLC22A6 (OAT1). Pharmacogenet Genomics (2005) 0.98
Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins. J Hum Genet (2001) 0.87
Improved solid-phase extraction and HPLC measurement of torasemide and its important metabolites. J Chromatogr B Analyt Technol Biomed Life Sci (2005) 0.86
Molecular physiology of renal p-aminohippurate secretion. News Physiol Sci (2001) 0.84
Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition. BMC Genet (2005) 0.84
CYP2C9 polymorphisms and the interindividual variability in pharmacokinetics and pharmacodynamics of the loop diuretic drug torsemide. Clin Pharmacol Ther (2004) 0.81
Uptake of chemically reactive, DNA-damaging sulfuric acid esters into renal cells by human organic anion transporters. J Am Soc Nephrol (2006) 0.80
Pharmacogenomics of diuretic drugs: data on rare monogenic disorders and on polymorphisms and requirements for further research. Pharmacogenomics (2003) 0.79
Tubular effects of the diuretic torasemide. Cardiology (1994) 0.78
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer. Sci Transl Med (2010) 6.39
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol (2012) 3.29
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl Cancer Inst (2010) 3.18
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet (2005) 2.83
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet (2007) 2.75
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet (2005) 2.70
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet (2007) 2.46
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol. Hum Mol Genet (2004) 2.45
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation (2003) 2.12
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nat Med (2009) 2.08
Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis. Electrophoresis (2002) 2.07
Patients' and physicians' perspectives on pharmacogenetic testing. Pharmacogenomics (2006) 2.07
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet (2004) 2.03
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians. Am J Hum Genet (2008) 2.02
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci (2010) 2.00
Demographic history of Oceania inferred from genome-wide data. Curr Biol (2010) 1.93
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet (2008) 1.93
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation (2005) 1.87
Impact of CYP2C9 and CYP2C19 polymorphisms on tolbutamide kinetics and the insulin and glucose response in healthy volunteers. Pharmacogenetics (2002) 1.85
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Clinical consequences of cytochrome P450 2C9 polymorphisms. Clin Pharmacol Ther (2005) 1.83
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain (2010) 1.76
Patient-tailored antiemetic treatment with 5-hydroxytryptamine type 3 receptor antagonists according to cytochrome P-450 2D6 genotypes. J Clin Oncol (2002) 1.75
Pooled analysis and meta-analysis of glutathione S-transferase M1 and bladder cancer: a HuGE review. Am J Epidemiol (2002) 1.73
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab (2009) 1.68
Genomewide linkage analysis identifies novel genetic Loci for lung function in mice. Am J Respir Crit Care Med (2005) 1.67
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
Benchmarking of mutation diagnostics in clinical lung cancer specimens. PLoS One (2011) 1.65
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
A longitudinal analysis of reproductive skew in male rhesus macaques. Proc Biol Sci (2004) 1.64
Bupropion and 4-OH-bupropion pharmacokinetics in relation to genetic polymorphisms in CYP2B6. Pharmacogenetics (2003) 1.63
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet (2013) 1.61
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest (2011) 1.60
Human renal organic anion transporter 4 operates as an asymmetric urate transporter. J Am Soc Nephrol (2007) 1.60
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59
Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam. Epilepsia (2012) 1.58
Cytochrome P450 2C9 phenotyping using low-dose tolbutamide. Eur J Clin Pharmacol (2004) 1.58
Modulation of steady-state kinetics of digoxin by haplotypes of the P-glycoprotein MDR1 gene. Clin Pharmacol Ther (2002) 1.58
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation (2007) 1.57
Systematic association mapping identifies NELL1 as a novel IBD disease gene. PLoS One (2007) 1.57
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet (2009) 1.57
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55
Organic anion transporters of the SLC22 family: biopharmaceutical, physiological, and pathological roles. Pharm Res (2007) 1.55
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet (2010) 1.50
Mutated KRAS results in overexpression of DUSP4, a MAP-kinase phosphatase, and SMYD3, a histone methyltransferase, in rectal carcinomas. Genes Chromosomes Cancer (2010) 1.50
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet (2009) 1.50
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48
Glyoxylate is a substrate of the sulfate-oxalate exchanger, sat-1, and increases its expression in HepG2 cells. J Hepatol (2010) 1.47
Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis. Gastroenterology (2006) 1.46
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet (2012) 1.46
Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification. Electrophoresis (2005) 1.45
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat (2010) 1.43
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet (2013) 1.43
Rat renal cortical OAT1 and OAT3 exhibit gender differences determined by both androgen stimulation and estrogen inhibition. Am J Physiol Renal Physiol (2004) 1.43
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet (2012) 1.43
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Hum Mutat (2005) 1.42
Impact of CYP2C9 amino acid polymorphisms on glyburide kinetics and on the insulin and glucose response in healthy volunteers. Clin Pharmacol Ther (2002) 1.42