Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

abstract：:Endocrine disrupters, such as persistent organohalogen pollutants (POPs) may cause hypospadias, which is a common congenital anomaly in males, affecting 0.2-0.7%. We hypothesized that hypospadias incidence would be high among Greenlanders, who are one of the most POP exposed populations on earth through consumption of...

journal_title：Pharmacogenetics and genomics

authors： Giwercman YL,Kleist KE,Giwercman A,Giwercman C,Toft G,Bonde JP,Pedersen HS

更新日期：2006-05-01 00:00:00

abstract：OBJECTIVE:Corticotropin-releasing hormone receptor (CRHR)-2 participates in smooth muscle relaxation response and may influence acute airway bronchodilator response to short-acting beta2-agonist treatment of asthma. We aim to assess associations between genetic variants of CRHR2 and acute bronchodilator response in ast...

journal_title：Pharmacogenetics and genomics

authors： Poon AH,Tantisira KG,Litonjua AA,Lazarus R,Xu J,Lasky-Su J,Lima JJ,Irvin CG,Hanrahan JP,Lange C,Weiss ST

更新日期：2008-05-01 00:00:00

abstract：BACKGROUND:Previous studies have shown that polymorphisms in the β2-adrenergic receptor gene (ADRB2) may influence bronchodilator response (BDR) to both β2-agonists and anticholinergics, possibly by intracellular cross-talk, but in opposite ways, in the Japanese population. We hypothesized that the preferential respons...

journal_title：Pharmacogenetics and genomics

authors： Konno S,Makita H,Hasegawa M,Nasuhara Y,Nagai K,Betsuyaku T,Hizawa N,Nishimura M

更新日期：2011-11-01 00:00:00

abstract：:We recently showed an association between the FCGR3A V/F polymorphism and the biological response [assessed on the basis of a C-reactive protein (CRP) concentration decrease] to infliximab in Crohn's disease. The CRP and FCGR3A genes are located on the same 1q23 locus. The present study aimed: (i) to exclude a linkage...

journal_title：Pharmacogenetics and genomics

authors： Willot S,Vermeire S,Ohresser M,Rutgeerts P,Paintaud G,Belaiche J,De Vos M,Van Gossum A,Franchimont D,Colombel JF,Watier H,Louis E

更新日期：2006-01-01 00:00:00

abstract：OBJECTIVES:Human novel oxidoreductase 1 (NDOR1) is a diflavin reductase closely related to cytochrome P450 reductase (POR) and nitric oxide synthase (NOS), which are involved in the metabolism of antitumour agents. A variant cDNA sequence of NDOR1, NDOR1 p.518-519ins9 or NDOR1_v1, has been deposited in GenBank (accessi...

journal_title：Pharmacogenetics and genomics

authors： Finn RD,Wilkie M,Smith G,Paine MJ

更新日期：2005-06-01 00:00:00

abstract：:The serotonin (5-HT) 1A receptor has been found to be dysregulated in prefrontal cortex and other brain regions in schizophrenia, and 5-HT1A receptor levels in the amygdala have been related to negative schizophrenia symptoms. We have assessed the impact of the functional C-1019G variant of the 5-HT1A receptor on the ...

journal_title：Pharmacogenetics and genomics

authors： Mössner R,Schuhmacher A,Kühn KU,Cvetanovska G,Rujescu D,Zill P,Quednow BB,Rietschel M,Wölwer W,Gaebel W,Wagner M,Maier W

更新日期：2009-01-01 00:00:00

abstract：:Genome-wide studies have identified single nucleotide polymorphisms associated with smoking behaviour and nicotine dependence. Less is known about genetic determinants of smoking cessation, but rs4680 in COMT has recently been shown to explain a substantial proportion of the variation in cessation in the general popul...

journal_title：Pharmacogenetics and genomics

authors： Breitling LP,Dahmen N,Illig T,Rujescu D,Nitz B,Raum E,Winterer G,Rothenbacher D,Brenner H

更新日期：2009-08-01 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:Among serotonin (5-HT) receptors, the 5-HT3 receptor is the only ligand-gated ion channel. 5-HT3 antagonists such as ondansetron and tropisetron may improve auditory gating and neurocognitive deficits in schizophrenic patients. Moreover, many antipsychotic drugs are antagonists at 5-HT3 receptors. However, t...

journal_title：Pharmacogenetics and genomics

authors： Schuhmacher A,Mössner R,Quednow BB,Kühn KU,Wagner M,Cvetanovska G,Rujescu D,Zill P,Möller HJ,Rietschel M,Franke P,Wölwer W,Gaebel W,Maier W

更新日期：2009-11-01 00:00:00

abstract：BACKGROUND/OBJECTIVES:The zeta-1 family isoform of GST biotransforms the investigational drug dichloroacetate (DCA) and certain other halogenated carboxylic acids. Haplotype variability in GSTZ1 influences the kinetics and, possibly, the toxicity of DCA. DCA metabolism correlates with expression of the GSTZ1 protein, s...

journal_title：Pharmacogenetics and genomics

authors： Langaee TY,Zhong G,Li W,Hamadeh I,Solayman MH,McDonough CW,Stacpoole PW,James MO

更新日期：2015-05-01 00:00:00

abstract：OBJECTIVES:Multiple sclerosis (MS) is a neurodegenerative chronic inflammatory. Mutations in the vitamin D receptor (VDR) gene can substantially affect serum vitamin D levels or alter its functionality, and can consequently increase susceptibility to developing MS. The objective of this study was to evaluate the associ...

journal_title：Pharmacogenetics and genomics

authors： Cancela Díez B,Pérez-Ramírez C,Maldonado-Montoro MDM,Carrasco-Campos MI,Sánchez Martín A,Pineda Lancheros LE,Martínez-Martínez F,Calleja-Hernández MÁ,Ramírez-Tortosa MC,Jiménez-Morales A

更新日期：2021-02-01 00:00:00

abstract：OBJECTIVE:Individual differences in drug efficacy and toxicity remain an important clinical concern. We investigated copy number variation (CNV) frequencies for pharmacogenes using The Cancer Genome Atlas dataset. MATERIALS AND METHODS:One hundred and fifty-two pharmacogenes were selected from liver hepatocellular car...

journal_title：Pharmacogenetics and genomics

authors： Kim IW,Han N,Kim MG,Kim T,Oh JM

更新日期：2015-01-01 00:00:00

abstract：OBJECTIVES:The effect of rifapentine plus isoniazid on efavirenz pharmacokinetics was characterized in AIDS Clinical Trials Group protocol A5279 (NCT01404312). The present analyses characterize pharmacogenetic interactions between these drugs, and with nevirapine. METHODS:A subset of HIV-positive individuals receiving...

journal_title：Pharmacogenetics and genomics

authors： Haas DW,Podany AT,Bao Y,Swindells S,Chaisson RE,Mwelase N,Supparatpinyo K,Mohapi L,Gupta A,Benson CA,Baker P,Fletcher CV

更新日期：2021-01-01 00:00:00

abstract：OBJECTIVES:Body weight regulation is under complex control involving the central nervous system and peripheral pathways. The beta-adrenoceptor Galphas protein system plays an important role in heart rate regulation and lipid mobilization suggesting a key role for the stimulatory G protein Galphas in body weight regulat...

journal_title：Pharmacogenetics and genomics

authors： Frey UH,Hauner H,Jöckel KH,Manthey I,Brockmeyer N,Siffert W

更新日期：2008-02-01 00:00:00

abstract：BACKGROUND:Gene expression is regulated by trans-acting transcription factors and microRNAs (miRNAs) through interactions with their respective cis-regulatory elements. The effects that drugs induce result from complex interactions in pathways downstream from their primary targets. These interactions, from gene regulat...

journal_title：Pharmacogenetics and genomics

authors： Arora A

更新日期：2015-03-01 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：OBJECTIVE:A genome-wide association study has identified several gene polymorphisms associated with loss of renal function. The effect of these variants on renal function in kidney transplant recipients receiving immunosuppressive treatment is unknown. MATERIALS AND METHODS:A cohort of 189 kidney transplant recipients...

journal_title：Pharmacogenetics and genomics

authors： Yan L,Li Y,Tang JT,An YF,Luo LM,Dai B,Shi YY,Wang LL

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND AND OBJECTIVES:Quetiapine is an atypical antipsychotic drug used to treat schizophrenia and acute episodes of mania. Quetiapine is metabolized by CYP3A enzymes including CYP3A5 and is a substrate of P-glycoprotein, an efflux drug transporter encoded by the ABCB1 gene. We assessed the effects of ABCB1 [c.1236...

journal_title：Pharmacogenetics and genomics

authors： Kim KA,Joo HJ,Lee HM,Park JY

更新日期：2014-01-01 00:00:00

abstract：:The existence of genetic polymorphisms in metabolizing enzymes can be regarded as one of the principal causes of interindividual variation in response to drugs and adverse reactions. In the case of enzyme CYP2C9, the presence of genetic coding variants could be considered a risk factor for suffering from gastrointesti...

journal_title：Pharmacogenetics and genomics

authors： Estany-Gestal A,Salgado-Barreira A,Sánchez-Diz P,Figueiras A

更新日期：2011-07-01 00:00:00

abstract：OBJECTIVE:Lung cancer, particularly the non-small-cell lung cancer (NSCLC) subtype, is the leading cause of cancer-related death worldwide. Several functional polymorphisms in inflammatory cytokine genes, such as IL1B, IL6, IL12A, IL13 and IL16, have been associated with the risk of NSCLC. The aim of this study was to ...

journal_title：Pharmacogenetics and genomics

authors： Pérez-Ramírez C,Alnatsha A,Cañadas-Garre M,Villar E,Valdivia-Bautista J,Faus-Dáder MJ,Calleja-Hernández MÁ

更新日期：2017-12-01 00:00:00

abstract：:P-glycoprotein, the product of the ABCB1 gene, is a proposed mechanism of pharmacoresistance in epilepsy. Previous attempts to correlate the ABCB1 C3435T SNP, or a three-SNP haplotype containing C3435T with epilepsy pharmacoresistance have produced discordant findings. We analysed these single nucleotide polymorphisms...

journal_title：Pharmacogenetics and genomics

authors： Leschziner GD,Andrew T,Leach JP,Chadwick D,Coffey AJ,Balding DJ,Bentley DR,Pirmohamed M,Johnson MR

更新日期：2007-03-01 00:00:00

abstract：AIM/OBJECTIVES/BACKGROUND:Hypertension is a risk factor for cardiovascular and kidney disease and is most prevalent in African-American adults. The renin-angiotensin-aldosterone system is integral in blood pressure regulation; angiotensin-converting enzyme inhibitors such as ramipril are first-line treatment options. A...

journal_title：Pharmacogenetics and genomics

authors： Anthony EG,Richard E,Lipkowitz MS,Bhatnagar V

更新日期：2015-09-01 00:00:00

abstract：OBJECTIVES:We aimed to assess a functional polymorphism in FCGR2A H131R, for association with the treatment response to Fc-containing inhibitors of tumor necrosis factor (TNF). METHODS:A total of 429 biologic-naive patients with rheumatoid arthritis collected in two sets (299 and 130) were treated during standard care...

journal_title：Pharmacogenetics and genomics

authors： Montes A,Perez-Pampin E,Narváez J,Cañete JD,Navarro-Sarabia F,Moreira V,Fernández-Nebro A,Del Carmen Ordóñez M,de la Serna AR,Magallares B,Vasilopoulos Y,Sarafidou T,Caliz R,Ferrer MA,Joven B,Carreira P,Gómez-Reino JJ,G

更新日期：2014-05-01 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：OBJECTIVES:To assess the influence of individual methylenetetrahydrofolate reductase (MTHFR) C677T and methionine synthase A2756G polymorphisms on the change of serum folate concentration in response to different dosages and durations of folic acid (FA) supplementation in hypertensive Chinese adults. METHODS:A total o...

journal_title：Pharmacogenetics and genomics

authors： Qin X,Li J,Cui Y,Liu Z,Zhao Z,Ge J,Guan D,Hu J,Wang Y,Zhang F,Xu X,Wang X,Xu X,Huo Y

更新日期：2012-06-01 00:00:00

abstract：RATIONALE:Selecting an effective treatment for patients with major depressive disorder is a perpetual problem for psychiatrists. It is of particular interest to explore the interaction between genetic predisposition and environmental factors. OBJECTIVES:Mouse inbred strains vary in baseline performance in depression-r...

journal_title：Pharmacogenetics and genomics

authors： Binder E,Malki K,Paya-Cano JL,Fernandes C,Aitchison KJ,Mathé AA,Sluyter F,Schalkwyk LC

更新日期：2011-12-01 00:00:00

abstract：BACKGROUND:5-Hydroxytryptamine 3 (5-HT3) receptors mediate the fast excitatory neurotransmission of serotonin. In this study, we have characterized the effects of four naturally occurring, nonsynonymous variants of the human 5-HT3B subunit on expression and signalling properties of heteromeric 5-HT3AB receptors. METHO...

journal_title：Pharmacogenetics and genomics

authors： Krzywkowski K,Davies PA,Irving AJ,Bräuner-Osborne H,Jensen AA

更新日期：2008-12-01 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：OBJECTIVES:A total of 2402 patients with arsenic-related skin lesions, such as hyperkeratosis, hyperpigmentation or hypopigmentation, or even skin cancer in a few villages in Southwest Guizhou Autonomous Prefecture, China represent a unique case of endemic arsenism related with indoor combustion of high arsenic coal. T...

journal_title：Pharmacogenetics and genomics

authors： Lin GF,Du H,Chen JG,Lu HC,Guo WC,Meng H,Zhang TB,Zhang XJ,Lu DR,Golka K,Shen JH

更新日期：2006-12-01 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