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List of works by Elke Schaeffeler

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

scientific article

A multiplex MALDI-TOF MS approach facilitates genotyping of DNA from formalin-fixed paraffin-embedded tumour specimens

scientific article published on October 1, 2010

A prospective, open-label trial of 6-thioguanine in patients with ulcerative or indeterminate colitis

scientific article published on October 2005

A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease

scientific article

ABCB1 genotype of the donor but not of the recipient is a major risk factor for cyclosporine-related nephrotoxicity after renal transplantation

scientific article published on 16 March 2005

Aberrant splicing caused by single nucleotide polymorphism c.516G>T [Q172H], a marker of CYP2B6*6, is responsible for decreased expression and activity of CYP2B6 in liver

scientific article published on 2 January 2008

Activating mutation of the renal epithelial chloride channel ClC-Kb, predisposing to hypertension

scientific article

Antimalarial artemisinin drugs induce cytochrome P450 and MDR1 expression by activation of xenosensors pregnane X receptor and constitutive androstane receptor.

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Association of SGK 1 Gene polymorphisms with type 2 diabetes

scientific article published on 16 January 2008

Association of a functional variant in the Wnt co-receptor LRP6 with early onset ileal Crohn's disease

scientific article

Azathioprine versus mesalazine for prevention of postoperative clinical recurrence in patients with Crohn's disease with endoscopic recurrence: efficacy and safety results of a randomised, double-blind, double-dummy, multicentre trial

scientific article published in June 2010

CYP2C19 and nongenetic factors predict poor responsiveness to clopidogrel loading dose after coronary stent implantation

scientific article

CYP2C19 polymorphism is a major predictor of treatment failure in white patients by use of lansoprazole-based quadruple therapy for eradication of Helicobacter pylori

scientific article published in September 2004

CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-time PCR.

scientific article published in December 2003

CYP3A5 genotype is associated with diagnosis of hypertension in elderly patients: data from the DEBATE Study

scientific article

Cellular uptake of imatinib into leukemic cells is independent of human organic cation transporter 1 (OCT1).

scientific article published on 18 December 2013

Comprehensive Metabolomic and Lipidomic Profiling of Human Kidney Tissue: A Platform Comparison

scientific article published on 19 December 2016

Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants

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DNA methylation is associated with downregulation of the organic cation transporter OCT1 (SLC22A1) in human hepatocellular carcinoma

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DNA methylation of the SLC16A3 promoter regulates expression of the human lactate transporter MCT4 in renal cancer with consequences for clinical outcome

scientific article published on 23 July 2013

Determination of 6-thioguanosine diphosphate and triphosphate and nucleoside diphosphate kinase activity in erythrocytes: novel targets for thiopurine therapy?

scientific article published in April 2010

Differential expression of drug uptake and efflux transporters in Japanese patients with hepatocellular carcinoma

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Effect of CYP2B6, ABCB1, and CYP3A5 polymorphisms on efavirenz pharmacokinetics and treatment response: an AIDS Clinical Trials Group study

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Enzymatically Modified Low-Density Lipoprotein Is Present in All Stages of Aortic Valve Sclerosis: Implications for Pathogenesis of the Disease

scientific article published on 16 October 2015

Esomeprazole-induced healing of gastroesophageal reflux disease is unrelated to the genotype of CYP2C19: evidence from clinical and pharmacokinetic data

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Evaluation of clinical risk factors to predict high on-treatment platelet reactivity and outcome in patients with stable coronary artery disease (PREDICT-STABLE).

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Expression and localization of the multidrug resistance protein 5 (MRP5/ABCC5), a cellular export pump for cyclic nucleotides, in human heart

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Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liver

scientific article published in October 2009

Expression polymorphism of the blood-brain barrier component P-glycoprotein (MDR1) in relation to Parkinson's disease

scientific article published in October 2002

Functional genomics suggest neurogenesis in the adult human olfactory bulb

scientific article published on 09 August 2013

GPla Polymorphisms Are Associated with Outcomes in Patients at High Cardiovascular Risk

scientific article published on 21 August 2017

Genetic polymorphism of cytochrome P450 2D6 determines oestrogen receptor activity of the major infertility drug clomiphene via its active metabolites

scientific article published on 22 November 2011

Genetic variants of Wnt transcription factor TCF-4 (TCF7L2) putative promoter region are associated with small intestinal Crohn's disease

scientific article

Genetics is a major determinant of expression of the human hepatic uptake transporter OATP1B1, but not of OATP1B3 and OATP2B1

scientific article published on January 11, 2013

High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1)

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Highly multiplexed genotyping of thiopurine s-methyltransferase variants using MALD-TOF mass spectrometry: reliable genotyping in different ethnic groups

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Identification of cardiomyopathy associated circulating miRNA biomarkers in patients with muscular dystrophy using a complementary cardiovascular magnetic resonance and plasma profiling approach

scientific article published on 6 May 2016

Impact of CYP2D6 genotype on adverse effects during treatment with metoprolol: a prospective clinical study

scientific article

Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature

scientific article published on July 2015

Impact of Membrane Drug Transporters on Resistance to Small-Molecule Tyrosine Kinase Inhibitors

scientific article published on 19 September 2016

Impact of p38 MAP Kinase Inhibitors on LPS-Induced Release of TNF-α in Whole Blood and Primary Cells from Different Species

scientific article published on 24 July 2015

Impact of vitamin D receptor VDR rs2228570 polymorphism in oldest old.

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Improved Prediction of Endoxifen Metabolism by CYP2D6 Genotype in Breast Cancer Patients Treated with Tamoxifen

scientific article published on 24 August 2017

Lipid-lowering response to statins is affected by CYP3A5 polymorphism

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MALDI-TOF mass spectrometry for multiplex genotyping of CYP2B6 single-nucleotide polymorphisms

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MDR1 gene polymorphisms and disposition of the P-glycoprotein substrate fexofenadine

scientific article published on May 2002

Mammalian MATE (SLC47A) transport proteins: impact on efflux of endogenous substrates and xenobiotics

scientific article published on 17 September 2011

Maternal eNOS deficiency determines a fatty liver phenotype of the offspring in a sex dependent manner

scientific article published on 13 May 2016

Mechanisms and assessment of statin-related muscular adverse effects

scientific article

Metformin and cancer: from the old medicine cabinet to pharmacological pitfalls and prospects

scientific article published on 29 December 2012

Methylomes of renal cell lines and tumors or metastases differ significantly with impact on pharmacogenes

scientific article published on 20 July 2016

Multidrug and toxin extrusion proteins as transporters of antimicrobial drugs

scientific article published on 13 September 2012

Multidrug resistance-related protein 2 genotype of the donor affects kidney graft function

scientific article published in April 2009

Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression

scientific article

NOD2/CARD15 gene variants are linked to failure of antibiotic treatment in perianal fistulating Crohn's disease

scientific article published on 26 March 2008

Neural correlates of error monitoring modulated by atomoxetine in healthy volunteers

scientific article published on 17 December 2010

Nomenclature for alleles of the thiopurine methyltransferase gene

scientific article published on April 2013

PDK1 Determines Collagen-Dependent Platelet Ca2+ Signaling and Is Critical to Development of Ischemic Stroke In Vivo

scientific article published on 23 June 2016

PXR Variants and Artemisinin Use in Vietnamese Subjects: Frequency Distribution and Impact on the Interindividual Variability of CYP3A Induction by Artemisinin

scientific article published on January 17, 2012

Pharmacogenetics: Implications for Modern Type 2 Diabetes Therapy

scientific article published on September 2015

Pharmacogenomics of human liver cytochrome P450 oxidoreductase: multifactorial analysis and impact on microsomal drug oxidation

scientific article

Pharmacogenomics: a key component of personalized therapy

scientific article published on November 29, 2012

Pharmacokinetic modelling of morphine, morphine-3-glucuronide and morphine-6-glucuronide in plasma and cerebrospinal fluid of neurosurgical patients after short-term infusion of morphine

scientific article published on December 2002

Polymorphisms of the nuclear receptor pregnane X receptor and organic anion transporter polypeptides 1A2, 1B1, 1B3, and 2B1 are not associated with breast cancer risk

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Proton pump inhibitors inhibit metformin uptake by organic cation transporters (OCTs)

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Reduced Paneth cell alpha-defensins in ileal Crohn's disease

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Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group

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SDF1 Polymorphisms Influence Outcome in Patients with Symptomatic Cardiovascular Disease

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Selective p38α MAP kinase/MAPK14 inhibition in enzymatically modified LDL-stimulated human monocytes: implications for atherosclerosis

scientific article published on 8 November 2016

Solute carrier transporter and drug-related nephrotoxicity: the impact of proximal tubule cell models for preclinical research

scientific article published on 08 January 2014

Structure and function of multidrug and toxin extrusion proteins (MATEs) and their relevance to drug therapy and personalized medicine

scientific article published on 10 May 2016

Systemic regulation of bilirubin homeostasis: Potential benefits of hyperbilirubinemia

scientific article published on 23 October 2017

Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia

scientific article published in March 2005

Thiopurine methyltransferase genetics is not a major risk factor for secondary malignant neoplasms after treatment of childhood acute lymphoblastic leukemia on Berlin-Frankfurt-Münster protocols.

scientific article

Thiopurine treatment in inflammatory bowel disease: clinical pharmacology and implication of pharmacogenetically guided dosing

scientific article published on January 2007

Translational learning from clinical studies predicts drug pharmacokinetics across patient populations

scientific article published on 28 March 2017

Validation of a high-performance liquid chromatography method for thiopurine S-methyltransferase activity in whole blood using 6-mercaptopurine as substrate

scientific article published in December 2017

Variable expression of P-glycoprotein in the human placenta and its association with mutations of the multidrug resistance 1 gene (MDR1, ABCB1).

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