Identification of a functionally impaired allele of human novel oxidoreductase 1 (NDOR1), NDOR1*1.

abstract：:Heterotrimeric guanine-binding proteins (G proteins) transmit signals from the cell surface to intracellular signal cascades. The β3-subunit encoded by the gene GNB3 is widely expressed and, therefore, involved in various physiological and pathophysiological processes. A C825T polymorphism located in exon 10 of GNB3 w...

journal_title：Pharmacogenetics and genomics

authors： Klenke S,Kussmann M,Siffert W

更新日期：2011-09-01 00:00:00

abstract：:Small heterodimer partner 1 (SHP1, NR0B2) is a member of the superfamily of nuclear receptors (NRs). Even if this orphan receptor, unlike other NRs, lacks the DNA-binding domain, it is capable of regulating transcription by repressing the activity of other NRs by direct protein-protein interaction. Accordingly, SHP1 i...

journal_title：Pharmacogenetics and genomics

authors： Prestin K,Olbert M,Hussner J,Völzke H,Meyer Zu Schwabedissen HE

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVE:The immunosuppressive drug tacrolimus requires strict therapeutic monitoring due to its narrow therapeutic index and great inter-individual variability. Cytochrome P450 3A4 (Cyp3A4) and Cyp3A5 are the most important contributors to tacrolimus metabolism while the P-glycoprotein pump (MDR-1) modulates its bioa...

journal_title：Pharmacogenetics and genomics

authors： Roy JN,Barama A,Poirier C,Vinet B,Roger M

更新日期：2006-09-01 00:00:00

abstract：OBJECTIVES:Flavin-containing monooxygenase 3 (FMO3) is involved in the metabolism of foreign chemicals, including therapeutic drugs, and thus mediates interactions between humans and their chemical environment. Loss-of-function mutations in the gene cause the inherited disorder trimethylaminuria, or fish-odour syndrome...

journal_title：Pharmacogenetics and genomics

authors： Allerston CK,Shimizu M,Fujieda M,Shephard EA,Yamazaki H,Phillips IR

更新日期：2007-10-01 00:00:00

abstract：:We have identified the ATP-binding cassette (ABC) transporter ABCC4 as an active constituent of mediator-storing granules in human platelets. In addition to multidrug resistance protein 4, other ABC-type transport proteins may contribute to platelet secretory function as well as determine intended or adverse effects o...

journal_title：Pharmacogenetics and genomics

authors： Niessen J,Jedlitschky G,Grube M,Kawakami H,Kamiie J,Ohtsuki S,Schwertz H,Bien S,Starke K,Ritter C,Strobel U,Greinacher A,Terasaki T,Kroemer HK

更新日期：2010-06-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to assess whether the CYP2C9*2 and/or *3 variants might modify the risk for NSAID-related upper gastrointestinal bleeding (UGIB) in NSAID users. PATIENTS AND METHODS:We conducted a multicenter, case-control study in which cases were patients aged more than 18 years with a diagnosis ...

journal_title：Pharmacogenetics and genomics

authors： Figueiras A,Estany-Gestal A,Aguirre C,Ruiz B,Vidal X,Carvajal A,Salado I,Salgado-Barreira A,Rodella L,Moretti U,Ibáñez L,EMPHOGEN group.

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:Despite the enormous success of imatinib in chronic myeloid leukemia (CML), therapy resistance has emerged in a significant proportion of patients, partly because of the overexpression of ABC efflux transporters. METHODS:Using an array comprising 667 miRNAs, we investigated whether the expression of microRN...

journal_title：Pharmacogenetics and genomics

authors： Turrini E,Haenisch S,Laechelt S,Diewock T,Bruhn O,Cascorbi I

更新日期：2012-03-01 00:00:00

abstract：OBJECTIVES:Numerous functional polymorphisms in the CYP2C19 gene have been identified; some alleles (e.g. CYP2C19*2 and CYP2C19*3) are associated with poor metabolism of CYP2C19 substrate drugs. Studies have found that the proportion of poor metabolizers, explained by CYP2C19*2 and CYP2C19*3, varies from less than 50% ...

journal_title：Pharmacogenetics and genomics

authors： Nakamoto K,Kidd JR,Jenison RD,Klaassen CD,Wan YJ,Kidd KK,Zhong XB

更新日期：2007-02-01 00:00:00

abstract：BACKGROUND/AIM:MicroRNAs (miRNAs) are small noncoding RNAs that have been implicated in mechanisms underlying various types of cancers including hepatocellular carcinoma (HCC). Reports have indicated that single nucleotide polymorphisms in miRNA-196A2 and miRNA-146A genes may contribute to the risk of progression of he...

journal_title：Pharmacogenetics and genomics

authors： Riazalhosseini B,Mohamed Z,Apalasamy YD,Eng HS,Mohamed R

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND/AIM:Cytochrome P450 oxidoreductase (POR) is required for drug metabolism by all microsomal cytochrome P450 (CYP) enzymes. The aim of this study was to investigate whether single-nucleotide polymorphisms in the POR gene were correlated with interindividual variations in CYP2B6 activity, as measured by bupropi...

journal_title：Pharmacogenetics and genomics

authors： Lv J,Hu L,Zhuo W,Zhang C,Zhou H,Fan L

更新日期：2016-02-01 00:00:00

abstract：OBJECTIVES:The development of targeted drugs would greatly benefit from the simultaneous identification of biomarkers to determine the aspects of bioactivity, drug safety and efficacy, particularly when affecting receptor-signaling pathways. However, the establishment of appropriate systems to monitor drug-induced even...

journal_title：Pharmacogenetics and genomics

authors： Classen S,Muth C,Debey-Pascher S,Eggle D,Beyer M,Mallmann MR,Rudlowski C,Zander T,Pölcher M,Kuhn W,Lahn M,Schultze JL,Staratschek-Jox A

更新日期：2010-03-01 00:00:00

abstract：:Two recent screens for copy-number variations in the entire human genome found 12.4 gene copy number variations per person, including 2.5% of individuals with gains between 7q21.1 and 7q22.1, the chromosomal location of CYP3A4. CYP3A4 is involved in the metabolism of approximately 50% of all drugs, including many canc...

journal_title：Pharmacogenetics and genomics

authors： Lamba JK,Chen X,Lan LB,Kim JW,Wei Wang X,Relling MV,Kazuto Y,Watkins PB,Strom S,Sun D,Schuetz JD,Schuetz EG

更新日期：2006-06-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to evaluate the effect of polymorphisms affecting the clopidogrel metabolism (CYP3A4 IVS10+12G/A and CYP2C19*2) and the P2Y12 receptor (P2Y12 T744C) on modulating platelet function in acute coronary syndrome patients on dual antiplatelet treatment. BACKGROUND:Residual platelet reac...

journal_title：Pharmacogenetics and genomics

authors： Giusti B,Gori AM,Marcucci R,Saracini C,Sestini I,Paniccia R,Valente S,Antoniucci D,Abbate R,Gensini GF

更新日期：2007-12-01 00:00:00

abstract：INTRODUCTION:Cytochrome P450 1A2 (CYP 1A2) is responsible for more than 90% of caffeine clearance. A polymorphic variant of CYP1A2 (-163C>A) (rs762551) is associated with high CYP1A2 inducibility. Both caffeine and its main metabolite, paraxanthine, may be neuroprotective. The association between caffeine intake and ri...

journal_title：Pharmacogenetics and genomics

authors： Tan EK,Chua E,Fook-Chong SM,Teo YY,Yuen Y,Tan L,Zhao Y

更新日期：2007-11-01 00:00:00

abstract：:Rapid development in the annotation of human genetic variation has increased the numbers of single nucleotide polymorphisms (SNPs) in candidate genes by several orders of magnitude. The selection of both useful target SNPs for disease-gene association studies and SNPs associated with the treatment response is therefor...

journal_title：Pharmacogenetics and genomics

authors： Edvardsen H,Irene Grenaker Alnaes G,Tsalenko A,Mulcahy T,Yuryev A,Lindersson M,Lien S,Omholt S,Syvänen AC,Børresen-Dale AL,Kristensen VN

更新日期：2006-03-01 00:00:00

abstract：:A possible association between the combination of genetic variations in hepatocyte nuclear factor 4α (HNF4α) and constitutive androstane receptor (CAR) and the stable doses of warfarin was examined in patients from the Ewha-Severance Treatment (EAST) Group of Warfarin. Around 42.5% of the overall interindividual varia...

journal_title：Pharmacogenetics and genomics

authors： Moon JY,Lee KE,Chang BC,Jeong E,Jeong H,Gwak HS

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND/AIMS:Several single-nucleotide polymorphisms (SNPs) in the catechol-O-methyltransferase (COMT) gene have been associated with the risk of developing Parkinson's disease (PD). We conducted a systematic review and a meta-analysis including all the studies published on PD risk related with COMT SNPs (mainly rs4...

journal_title：Pharmacogenetics and genomics

authors： Jiménez-Jiménez FJ,Alonso-Navarro H,García-Martín E,Agúndez JA

更新日期：2014-07-01 00:00:00

abstract：OBJECTIVES:We tested the effect of kidney-specific multidrug resistance-related protein (MRP2, ABCC2) deficiency on renal organic solute disposition as well as on renal protein and gene expression. Furthermore, we investigated whether a particular kidney donor ABCC2 genotype is associated with delayed graft function in...

journal_title：Pharmacogenetics and genomics

authors： Grisk O,Steinbach AC,Ciecholewski S,Schlüter T,Klöting I,Schmidt H,Dazert E,Schaeffeler E,Steil L,Gauer S,Jedlitschky G,Schwab M,Geisslinger G,Hauser IA,Völker U,Kroemer HK,Rettig R

更新日期：2009-04-01 00:00:00

abstract：OBJECTIVES:Nine different functional UGT1A enzymes are generated from a single UGT1A gene by alternative splicing, with each enzyme having a unique exon 1. SN-38, the active metabolite of the anticancer agent irinotecan, is metabolized by both UGT1A1 and UGT1A9. We aim to characterize the UGT1A9-UGT1A1 haplotypes in As...

journal_title：Pharmacogenetics and genomics

authors： Innocenti F,Liu W,Chen P,Desai AA,Das S,Ratain MJ

更新日期：2005-05-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that the two nonsynonymous single nucleotide polymorphisms at the CB2 cannabinoid receptor gene may have functional consequences on human CB2. METHODS:Q63R, H316Y, and Q63R/H316 mutations were made in recombinant human CB2 by the method of site-directed mutagenesis. After these mutant ...

journal_title：Pharmacogenetics and genomics

authors： Carrasquer A,Nebane NM,Williams WM,Song ZH

更新日期：2010-03-01 00:00:00

abstract：OBJECTIVE:To determine whether polymorphisms in the sulfonamide detoxification genes, CYB5A (encoding cytochrome b(5)), CYB5R3 (encoding cytochrome b(5) reductase), or NAT2 (encoding N-acetyltransferase 2) were over-represented in patients with delayed sulfonamide drug hypersensitivity, compared with control patients w...

journal_title：Pharmacogenetics and genomics

authors： Sacco JC,Abouraya M,Motsinger-Reif A,Yale SH,McCarty CA,Trepanier LA

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:Vitamin K is an essential cofactor for the synthesis of several blood coagulation factors. It has been suggested that the apolipoprotein E (ApoE) genotype has profound effects on vitamin K status. Therefore, we investigated whether this common genetic polymorphism influenced dose requirements and effects of c...

journal_title：Pharmacogenetics and genomics

authors： Visser LE,Trienekens PH,De Smet PA,Vulto AG,Hofman A,van Duijn CM,Stricker BH

更新日期：2005-02-01 00:00:00

abstract：OBJECTIVE:Irreversible hearing loss is a frequent side effect of the chemotherapeutic agent cisplatin and shows considerable interpatient variability. The variant rs1872328 in the ACYP2 gene was recently identified as a risk factor for the development of cisplatin-induced ototoxicity in children with brain tumors. We a...

journal_title：Pharmacogenetics and genomics

authors： Vos HI,Guchelaar HJ,Gelderblom H,de Bont ES,Kremer LC,Naber AM,Hakobjan MH,van der Graaf WT,Coenen MJ,te Loo DM

更新日期：2016-05-01 00:00:00

abstract：:Vitamin D has potent anti-tumour properties. Calcitriol [1,25(OH)2D3], the hormonal derivative of vitamin D3, is an antiproliferative and prodifferentiation factor for several cell types, including human squamous cells of the head and neck. Several polymorphisms of the vitamin D receptor (VDR) gene have been described...

journal_title：Pharmacogenetics and genomics

authors： Liu Z,Calderon JI,Zhang Z,Sturgis EM,Spitz MR,Wei Q

更新日期：2005-03-01 00:00:00

abstract：OBJECTIVE:The prototypical atypical antipsychotic agent, clozapine, is more efficacious for refractory schizophrenia than the 'typical' antipsychotics, but the mechanism underlying this enhanced efficacy is still under investigation. Since 2002, at least 22 association studies have shown that the DTNBP1 can be associat...

journal_title：Pharmacogenetics and genomics

authors： Zuo L,Luo X,Krystal JH,Cramer J,Charney DS,Gelernter J

更新日期：2009-06-01 00:00:00

abstract：BACKGROUND:HIV infection has been associated with dyslipidemia, insulin resistance, and changes in body composition, including loss of subcutaneous fat and skeletal muscle, with relative sparing of upper trunk and visceral fat. Because of its resemblance to Cushing's syndrome, caused by glucocorticoid excess, we hypoth...

journal_title：Pharmacogenetics and genomics

authors： Manenschijn L,Scherzer R,Koper JW,Danoff A,van Rossum EF,Grunfeld C

更新日期：2014-03-01 00:00:00

abstract：:Clozapine is the drug of choice for treatment-resistant schizophrenia. However, its use is associated with variable clinical responses and serious adverse effects. Polymorphisms in genes encoding proteins involved in synaptic neurotransmission may account for such variability. Here, we studied independent and epistati...

journal_title：Pharmacogenetics and genomics

authors： Rajagopal VM,Rajkumar AP,Jacob KS,Jacob M

更新日期：2018-01-01 00:00:00

abstract：INTRODUCTION:Elevated plasma homocysteine (Hcy) concentration is an independent risk factor for cardiovascular disease, and its involvement in endothelial cell dysfunction is well established. However, the role of Hcy and folate in the pathogenesis of Parkinson's disease (PD) remains controversial. OBJECTIVES:The stud...

journal_title：Pharmacogenetics and genomics

authors： Białecka M,Kurzawski M,Roszmann A,Robowski P,Sitek EJ,Honczarenko K,Gorzkowska A,Budrewicz S,Mak M,Jarosz M,Gołąb-Janowska M,Koziorowska-Gawron E,Droździk M,Sławek J

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:To assess the impact of CYP2C9 variation on phenytoin patient response and clinician prescribing practice where genotype was unknown during treatment. METHODS:A retrospective analysis of Resource on Genetic Epidemiology Research on Adult Health and Aging cohort participants who filled a phenytoin prescriptio...

journal_title：Pharmacogenetics and genomics

authors： Fohner AE,Ranatunga DK,Thai KK,Lawson BL,Risch N,Oni-Orisan A,Jelalian AT,Rettie AE,Liu VX,Schaefer CA

更新日期：2019-10-01 00:00:00

abstract：:In humans, UDP-glucuronosyltransferase 1A9 is known to glucuronidate numerous lipophilic substances of pharmacological and toxicological importance. Although it has been established that individuals vary in their capacity to express this detoxification enzyme, little is known about the mechanisms that dictate the regu...

journal_title：Pharmacogenetics and genomics

authors： Gardner-Stephen DA,Mackenzie PI

更新日期：2007-01-01 00:00:00