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254 results on '"Nofziger, Charity"'

1. PharmVar GeneFocus: CYP4F2.

Author

Zubiaur, Pablo, Rodríguez‐Antona, Cristina, Boone, Erin C., Daly, Ann K., Tsermpini, Evangelia Eirini, Khasawneh, Lubna Q., Sangkuhl, Katrin, Duconge, Jorge, Botton, Mariana R., Savieo, Jessica, Nofziger, Charity, Whirl‐Carrillo, Michelle, Klein, Teri E., and Gaedigk, Andrea

Subjects
GENETIC variation, VITAMIN K, HAPLOTYPES, DRUG metabolism, VITAMIN E
Abstract

The Pharmacogene Variation Consortium (PharmVar) serves as a global repository providing star (*) allele nomenclature for the polymorphic human CYP4F2 gene. CYP4F2 genetic variation impacts the metabolism of vitamin K, which is associated with warfarin dose requirements, and the metabolism of drugs, such as imatinib or fingolimod, and certain endogenous compounds including vitamin E and eicosanoids. This GeneFocus provides a comprehensive overview and summary of CYP4F2 genetic variation including the characterization of 14 novel star alleles, CYP4F2*4 through *17. A description of how haplotype information cataloged by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC) is also provided. [ABSTRACT FROM AUTHOR]

Published
2024
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2. PharmVar GeneFocus: CYP2A6.

Author

Langlois, Alec W.R., Chenoweth, Meghan J., Twesigomwe, David, Scantamburlo, Giada, Whirl‐Carrillo, Michelle, Sangkuhl, Katrin, Klein, Teri E., Nofziger, Charity, Tyndale, Rachel F., and Gaedigk, Andrea

Subjects
GENETIC variation, PHENOTYPES, HUMAN genes, NICOTINE, GENOTYPES
Abstract

The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the human CYP2A gene locus containing the highly polymorphic CYP2A6 gene. CYP2A6 plays a role in the metabolism of nicotine and various drugs. Thus, genetic variation can substantially contribute to the function of this enzyme and associated efficacy and safety. This GeneFocus provides an overview of the clinical significance of CYP2A6, including its genetic variation and function. We also highlight and discuss caveats in the identification and characterization of allelic variation of this complex pharmacogene, a prerequisite for accurate genotype determination and prediction of phenotype status. [ABSTRACT FROM AUTHOR]

Published
2024
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8. PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting

Author

Turner, Amy J., primary, Nofziger, Charity, additional, Ramey, Bronwyn E., additional, Ly, Reynold C., additional, Bousman, Chad A., additional, Agúndez, José A. G., additional, Sangkuhl, Katrin, additional, Whirl‐Carrillo, Michelle, additional, Vanoni, Simone, additional, Dunnenberger, Henry M., additional, Ruaño, Gualberto, additional, Kennedy, Martin A., additional, Phillips, Michael S., additional, Hachad, Houda, additional, Klein, Teri E., additional, Moyer, Ann M., additional, and Gaedigk, Andrea, additional

Published
2023
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11. The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, santorini, Greece, 23–26 May 2022

Author

Visvikis-Siest, Sophie, primary, Stathopoulou, Maria G., additional, Sunder-Plassmann, Raute, additional, Alizadeh, Behrooz Z., additional, Barouki, Robert, additional, Chatzaki, Ekaterina, additional, Dagher, Georges, additional, Dedoussis, George, additional, Deloukas, Panagiotis, additional, Haliassos, Alexander, additional, Hiegel, Brigitte Boisson, additional, Manolopoulos, Vangelis, additional, Masson, Christine, additional, Paré, Guillaume, additional, Paulmichl, Markus, additional, Petrelis, Alexandros M., additional, Sipeky, Csilla, additional, Süsleyici, Belgin, additional, Weryha, Georges, additional, Chenchik, Alex, additional, Diehl, Paul, additional, Everts, Robin E., additional, Haushofer, Alexander, additional, Lamont, John, additional, Mercado, Ruth, additional, Meyer, Heiko, additional, Munoz-Galeano, Herna, additional, Murray, Helena, additional, Nhat, Ferrier, additional, Nofziger, Charity, additional, Schnitzel, Wolfgang, additional, and Kanoni, Stavroula, additional

Published
2023
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14. SARS-CoV-2 variants of concern surveillance including Omicron using RT-PCR–based genotyping offers comparable performance to whole genome sequencing

Author

Vanoni, Simone, primary, Matulevicius, Arnoldas, additional, Avdiu, Besard, additional, Scantamburlo, Giada, additional, Ulekleiv, Camilla, additional, Brzoska, Pius M., additional, Furtado, Manohar R., additional, Feenstra, Jelena D. M., additional, Rico, Alain, additional, Gandhi, Manoj, additional, Giacobazzi, Elisabetta, additional, Masi, Elisa, additional, Paulmichl, Markus, additional, and Nofziger, Charity, additional

Published
2022
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18. Case report: metoclopramide induced acute dystonic reaction in adolescent CYP2D6 poor metabolizers.

Author

Fink, Franz-Martin, Bognar, Marta, Hengl, Petra, Paulmichl, Markus, and Nofziger, Charity

Subjects
METOCLOPRAMIDE, CYTOCHROME P-450 CYP2D6, GASTROPARESIS, CYTOCHROME P-450, TEENAGE boys, YOUNG adults
Abstract

Metoclopramide is indicated for the management of gastroesophageal reflux, gastric stasis, nausea, and vomiting. Metoclopramide-induced acute dystonic reactions (MIADRs), along with repetitive involuntary protrusion of the tongue, are wellknown phenomena in children and young adults that may appear after the first dose. The drug is primarily metabolized via oxidation by the cytochrome P450 enzyme CYP2D6 and to a lesser extent by CYP3A4 and CYP1A2. A recommendation to decrease metoclopramide dosing in patients with severely limited to no CYP2D6 activity (i.e., poor metabolizers, PMs) is included in the drug label. It is important to note, however, that a requirement or recommendation for preemptive testing for CYP2D6 metabolizer status is not included in the drug label. We present two cases of acute dystonia in two non-consanguineous male adolescents: one followingmetoclopramide and cimetidine administration in a 14-year-old to treat gastroesophageal reflux, and another following metoclopramide and pantoprazole administration in a 17-year-old with acute gastroenteritis. A retrospective pharmacogenetic analysis revealed both patients as CYP2D6 PMs. [ABSTRACT FROM AUTHOR]

Published
2023
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23. The Expression of CNS-Specific PPARGC1A Transcripts Is Regulated by Hypoxia and a Variable GT Repeat Polymorphism

Author

Soyal, Selma M., Bonova, Petra, Kwik, Markus, Zara, Greta, Auer, Simon, Scharler, Cornelia, Strunk, Dirk, Nofziger, Charity, Paulmichl, Markus, and Patsch, Wolfgang

Subjects
Central Nervous System, Male, Polymorphism, Genetic, Base Sequence, PGC-1α, Microsatellite, CNS-specific isoforms, ESRRA, Ciclopirox, Hypoxia-Inducible Factor 1, alpha Subunit, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, Article, Brain Ischemia, Cell Line, Gene Expression Regulation, Organ Specificity, PPARGC1A, Animals, Humans, FOXA2, RNA, Messenger, Rats, Wistar, Hypoxia, Promoter Regions, Genetic, Repetitive Sequences, Nucleic Acid
Abstract

PPARGC1A encodes a transcriptional co-activator also termed peroxisome proliferator-activated receptor (PPAR) gamma coactivator 1-alpha (PGC-1α) which orchestrates multiple transcriptional programs. We have recently identified CNS-specific transcripts that are initiated far upstream of the reference gene (RG) promoter. The regulation of these isoforms may be relevant, as experimental and genetic studies implicated the PPARGC1A locus in neurodegenerative diseases. We therefore studied cis- and trans-regulatory elements activating the CNS promoter in comparison to the RG promoter in human neuronal cell lines. A naturally occurring variable guanidine thymidine (GT) repeat polymorphism within a microsatellite region in the proximal CNS promoter increases promoter activity in neuronal cell lines. Both the RG and the CNS promoters are activated by ESRRA, and the PGC-1α isoforms co-activate ESRRA on their own promoters suggesting an autoregulatory feedback loop. The proximal CNS, but not the RG, promoter is induced by FOXA2 and co-activated by PGC-1α resulting in robust activation. Furthermore, the CNS, but not the RG, promoter is targeted by the canonical hypoxia response involving HIF1A. Importantly, the transactivation by HIF1A is modulated by the size of the GT polymorphism. Increased expression of CNS-specific transcripts in response to hypoxia was observed in an established rat model, while RG transcripts encoding the full-length reference protein were not increased. These results suggest a role of the CNS region of the PPARGC1A locus in ischemia and warrant further studies in humans as the activity of the CNS promoter as well as its induction by hypoxia is subject to inter-individual variability due to the GT polymorphism. Electronic supplementary material The online version of this article (10.1007/s12035-019-01731-5) contains supplementary material, which is available to authorized users.

Published
2019

25. PPAR[gamma] agonists inhibit vasopressin-mediated anion transport in the MDCK-C7 cell line

Author

Nofziger, Charity, Brown, Kathleen K., Smith, Chari D., Harrington, Wallace, Murray, David, Bisi, John, Ashton, Thalia T., Maurio, Frank P., Kalsi, Kameljit, West, T. Aaron, Baines, Deborah, and Blazer-Yost, Bonnie L.

Subjects
Cardiovascular receptors -- Physiological aspects, Membrane proteins -- Properties, Thiazolidinediones -- Physiological aspects, Vasopressin -- Properties, Biological sciences
Abstract

PPAR[gamma]agonists are synthetic ligands for the peroxisome proliferator-activated receptor-[gamma] (PPAR[gamma]). These agents have insulin-sensitizing properties but can cause fluid retention, thereby limiting their usefulness in patients at risk for cardiovascular disease. The side effect etiology is unknown, but the nature of presentation suggests modulation of renal salt and water homeostasis. In a well-characterized cell culture model of the principal cell type [Madin-Darby canine kidney (MDCK)-C7], PPARy agonists inhibit vasopressin-stimulated [Cl.sup.-] secretion with agonist dose-response relationships that mirror receptor transactivation profiles. Analyses of the components of the vasopressin-stimulated intracellular signaling pathway indicated no PPAR[gamma] agonist-induced changes in basolateral membrane conductances, intracellular cAMP, protein kinase A, or total cellular adenine nucleotides. The PPAR[gamma] agonist-induced decrease in anion secretion is the result of decreased mRNA of the final effector in the pathway, the apically located cystic fibrosis transmembrane regulator (CFTR). These data showing that CFTR is a target for PPAR-[gamma] agonists may provide new insights into the physiology of PPAR[gamma] agonist-induced fluid retention. CFTR; edema; glitazones; thiazolidinediones; ENaC

Published
2009

29. Selective Activation of CNS and Reference PPARGC1A Promoters Is Associated with Distinct Gene Programs Relevant for Neurodegenerative Diseases

Author

Kwik, Markus, primary, Hainzl, Stefan, additional, Oppelt, Jan, additional, Tichy, Boris, additional, Koller, Ulrich, additional, Bernardinelli, Emanuele, additional, Steiner, Markus, additional, Zara, Greta, additional, Nofziger, Charity, additional, Weis, Serge, additional, Paulmichl, Markus, additional, Dossena, Silvia, additional, Patsch, Wolfgang, additional, and Soyal, Selma M., additional

Published
2021
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31. PharmVar GeneFocus: CYP2D6

Author

Nofziger, Charity, primary, Turner, Amy J., additional, Sangkuhl, Katrin, additional, Whirl‐Carrillo, Michelle, additional, Agúndez, José A.G., additional, Black, John L., additional, Dunnenberger, Henry M., additional, Ruano, Gualberto, additional, Kennedy, Martin A., additional, Phillips, Michael S., additional, Hachad, Houda, additional, Klein, Teri E., additional, and Gaedigk, Andrea, additional

Published
2019
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32. 4th ESPT Conference: pharmacogenomics and personalized medicine – research progress and clinical implementation

Author

Sipeky, Csilla, primary, Llerena, Adrián, additional, Manolopoulos, Vangelis G, additional, Pearson, Ewan, additional, Mlakar, Vid, additional, Gozzo, Lucia, additional, Simmaco, Maurizio, additional, Marchetti, Paolo, additional, Re, Marzia Del, additional, Stankovic, Sanja, additional, Meyer, Urs, additional, Cascorbi, Ingolf, additional, Ingelman-Sundberg, Magnus, additional, Suarez-Kurtz, Guilherme, additional, Marc, Janja, additional, Katsila, Theodora, additional, Paulmichl, Markus, additional, Nofziger, Charity, additional, Ansari, Marc, additional, Drago, Filippo, additional, and van Schaik, Ron HN, additional

Published
2019
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34. The 9th Santorini Conference: Systems Medicine, Personalised Health and Therapy. “The Odyssey from Hope to Practice”, Santorini, Greece, 30 September–3 October 2018

Author

Visvikis-Siest, Sophie, primary, Gorenjak, Vesna, additional, Stathopoulou, Maria, additional, Petrelis, Alexandros, additional, Weryha, Georges, additional, Masson, Christine, additional, Hiegel, Brigitte, additional, Kumar, Satish, additional, Barouki, Robert, additional, Boerwinkle, Eric, additional, Dagher, Georges, additional, Deloukas, Panagiotis, additional, Innocenti, Federico, additional, Lamont, John, additional, Marschler, Michael, additional, Meyer, Heiko, additional, Meyer, Urs, additional, Nofziger, Charity, additional, Paulmichl, Markus, additional, Vacher, Cora, additional, and Webster, Lynn, additional

Published
2018
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38. MOESM1 of Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants

Author

Moraes, Vanessa, Bernardinelli, Emanuele, Zocal, Nathalia, Jhonathan Fernandez, Nofziger, Charity, Castilho, Arthur, Sartorato, Edi, Paulmichl, Markus, and Dossena, Silvia

Subjects
otorhinolaryngologic diseases, sense organs
Abstract

Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants

Published
2016
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41. PharmVar GeneFocus: CYP2D6.

Author

Nofziger, Charity, Turner, Amy J., Sangkuhl, Katrin, Whirl‐Carrillo, Michelle, Agúndez, José A.G., Black, John L., Dunnenberger, Henry M., Ruano, Gualberto, Kennedy, Martin A., Phillips, Michael S., Hachad, Houda, Klein, Teri E., and Gaedigk, Andrea

Subjects
DRUG efficacy, PHARMACOGENOMICS, HUMAN genes, DRUG metabolism, CONSORTIA
Abstract

The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the metabolism of numerous drugs and, thus, can impact drug efficacy and safety. This GeneFocus provides a comprehensive overview and summary of CYP2D6 genetic variation and describes how the information provided by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC). [ABSTRACT FROM AUTHOR]

Published
2020
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43. Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D6*3 Genotyping Assays

Author

Scantamburlo, Giada, primary, Tziolia, Konstantina, additional, Zopf, Michaela, additional, Bernardinelli, Emanuele, additional, Soyal, Selma M., additional, Civello, Davide Antonio, additional, Vanoni, Simone, additional, Dossena, Silvia, additional, Patsch, Wolfgang, additional, Patrinos, George P., additional, Paulmichl, Markus, additional, and Nofziger, Charity, additional

Published
2017
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47. Associations of Haplotypes Upstream ofIRS1with Insulin Resistance, Type 2 Diabetes, Dyslipidemia, Preclinical Atherosclerosis, and Skeletal MuscleLOC646736mRNA Levels

Author

Soyal, Selma M., primary, Felder, Thomas, additional, Auer, Simon, additional, Oberkofler, Hannes, additional, Iglseder, Bernhard, additional, Paulweber, Bernhard, additional, Dossena, Silvia, additional, Nofziger, Charity, additional, Paulmichl, Markus, additional, Esterbauer, Harald, additional, Krempler, Franz, additional, and Patsch, Wolfgang, additional

Published
2015
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