Výsledky vyhledávání - "Polymorphism, Genetic"

Digital droplet PCR versus quantitative PCR for lipoprotein (a) kringle IV type 2 repeat polymorphism genetic characterization Autor Barbieri, Giulia, Cassioli, Giulia, Kura, Ada, Orsi, Rebecca, Magi, Alberto, Berteotti, Martina, Scaturro, Giusi Maria, Lotti, Elena, Gori, Anna Maria, Marcucci, Rossella, Giusti, Betti, Sticchi, Elena

“…) in the evaluation of KIV2 repeat polymorphism. Methods We analysed 100 subjects tested for cardiovascular risk in which Lp…”
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Role of Brain-Derived Neurotrophic Factor in Beneficial Effects of Repetitive Transcranial Magnetic Stimulation for Upper Limb Hemiparesis after Stroke Autor Niimi, Masachika, Hashimoto, Kenji, Kakuda, Wataru, Miyano, Satoshi, Momosaki, Ryo, Ishima, Tamaki, Abo, Masahiro

“…Repetitive transcranial magnetic stimulation (rTMS) can improve upper limb hemiparesis after stroke but the mechanism underlying its efficacy remains elusive…”
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Co-evolution of NK receptors and HLA ligands in humans is driven by reproduction Autor Moffett, Ashley, Colucci, Francesco

“… This access by placental cells to the maternal supply line determines the growth and birth weight of the baby and is subject to stabilizing selection…”
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Bitter, Sweet, Salty, Sour and Umami Taste Perception Decreases with Age: Sex-Specific Analysis, Modulation by Genetic Variants and Taste-Preference Associations in 18 to 80 Year-Old Subjects Autor Barragán, Rocio, Coltell, Oscar, Portolés, Olga, Asensio, Eva M., Sorlí, José V., Ortega-Azorín, Carolina, González, José I., Sáiz, Carmen, Fernández-Carrión, Rebeca, Ordovas, Jose M., Corella, Dolores

“… = 1020 Caucasian European participants). Taste perception was determined by challenging subjects with solutions of the five basic tastes using standard prototypical tastants…”
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A Physiological-Based Pharmacokinetic Model Embedded with a Target-Mediated Drug Disposition Mechanism Can Characterize Single-Dose Warfarin Pharmacokinetic Profiles in Subjects with Various CYP2C9 Genotypes under Different Cotreatments Autor Cheng, Shen, Flora, Darcy R, Rettie, Allan E, Brundage, Richard C, Tracy, Timothy S

“…Warfarin, a commonly prescribed oral anticoagulant medication, is highly effective in treating deep vein thrombosis and pulmonary embolism. However, the…”
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Potential Sources of Inter-Subject Variability in Monoclonal Antibody Pharmacokinetics Autor Gill, Katherine L., Machavaram, Krishna K., Rose, Rachel H., Chetty, Manoranjenni

“…Understanding inter-subject variability in drug pharmacokinetics and pharmacodynamics is important to ensure that all patients attain suitable drug exposure to achieve efficacy and avoid toxicity…”
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MIF and D-DT are potential disease severity modifiers in male MS subjects Autor Benedek, Gil, Meza-Romero, Roberto, Jordan, Kelley, Zhang, Ying, Nguyen, Ha, Kent, Gail, Li, Jia, Siu, Edwin, Frazer, Jenny, Piecychna, Marta, Du, Xin, Sreih, Antoine, Leng, Lin, Wiedrick, Jack, Caillier, Stacy J, Offner, Halina, Oksenberg, Jorge R, Yadav, Vijayshree, Bourdette, Dennis, Bucala, Richard, Vandenbark, Arthur A

“…) and female MS subjects, with increased levels of CD74 in females vs. males with high MS disease severity…”
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Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects Autor Hulot, Jean-Sébastien, Bura, Alessandra, Villard, Eric, Azizi, Michel, Remones, Véronique, Goyenvalle, Catherine, Aiach, Martine, Lechat, Philippe, Gaussem, Pascale

“… Twenty of the subjects were wild-type CYP2C19 (*1/*1) homozygotes, while the other 8 subjects were heterozygous for the loss-of-function polymorphism CYP2C19*2 (*1/*2…”
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Polymorphisms in glutathione-related genes modify mercury concentrations and antioxidant status in subjects environmentally exposed to methylmercury Autor Barcelos, Gustavo Rafael Mazzaron, Grotto, Denise, de Marco, Kátia Cristina, Valentini, Juliana, Lengert, André van Helvoort, Oliveira, Andréia Ávila Soares de, Garcia, Solange Cristina, Braga, Gilberto Úbida Leite, Schläwicke Engström, Karin, Cólus, Ilce Mara de Syllos, Broberg, Karin, Barbosa, Fernando

“…) and glutathione-peroxidase (GPx) activity and GSH concentrations. Study subjects were from an Amazonian population in Brazil chronically exposed to MeHg from fish…”
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Microbial strain-level population structure and genetic diversity from metagenomes Autor Truong, Duy Tin, Tett, Adrian, Pasolli, Edoardo, Huttenhower, Curtis, Segata, Nicola

“…Among the human health conditions linked to microbial communities, phenotypes are often associated with only a subset of strains within causal microbial…”
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ABCC4 polymorphism indirectly reduces systemic exposure to a capecitabine metabolite 5′‐deoxy‐5‐fluorouridine in Japanese subjects Autor Matsumoto, Natsumi, Oishi, Ayano, Yoshino, Shotaro, Masuo, Yusuke, Kubota, Yutaro, Ishida, Hiroo, Shimada, Ken, Kato, Yukio, Fujita, Ken‐ichi

“…Aims Capecitabine converts to 5‐fluorouracil (5‐FU) in 3 steps. We previous demonstrated a significant association between area under the plasma…”
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Effects of ABCG2 421C > A genetic polymorphism on the pharmacokinetics of rivaroxaban in healthy Chinese subjects Autor Guo, Lingfang, Sun, Xue, Bo, Qiu, Bai, Wanjun, Du, Yabin, Song, Haojing

“…) of rivaroxaban in Chinese healthy subjects.Forty-two healthy subjects in China were recruited and given a single dose of 2.5…”
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Mutation bias reflects natural selection in Arabidopsis thaliana Autor Monroe, J. Grey, Srikant, Thanvi, Carbonell-Bejerano, Pablo, Becker, Claude, Lensink, Mariele, Exposito-Alonso, Moises, Klein, Marie, Hildebrandt, Julia, Neumann, Manuela, Kliebenstein, Daniel, Weng, Mao-Lun, Imbert, Eric, Ågren, Jon, Rutter, Matthew T., Fenster, Charles B., Weigel, Detlef

“…Since the first half of the twentieth century, evolutionary theory has been dominated by the idea that mutations occur randomly with respect to their…”
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PNPLA3 gene polymorphism accounts for fatty liver in community subjects without metabolic syndrome Autor Shen, J., Wong, G. L.‐H., Chan, H. L.‐Y., Chan, H.‐Y., Yeung, D. K.‐W., Chan, R. S.‐M., Chim, A. M.‐L., Chan, A. W.‐H., Choi, P. C.‐L., Woo, J., Chu, W. C.‐W., Wong, V. W.‐S.

“… Methods Liver fat and fibrosis were assessed by proton‐magnetic resonance spectroscopy and transient elastography in 920 subjects from a population screening project (251 had NAFLD…”
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Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans Autor Calvo, Sarah E, Pagliarini, David J, Mootha, Vamsi K

“…Upstream ORFs (uORFs) are mRNA elements defined by a start codon in the 5' UTR that is out-of-frame with the main coding sequence. Although uORFs are present…”
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Prediction of CYP2D6 phenotype from genotype across world populations Autor Gaedigk, Andrea, Sangkuhl, Katrin, Whirl-Carrillo, Michelle, Klein, Teri, Leeder, J. Steven

“… (>60,000 subjects, 173 reports) in order to estimate genotype-predicted phenotype status across major world populations based on activity score (AS) assignments…”
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Pronounced between‐subject and circadian variability in thymidylate synthase and dihydropyrimidine dehydrogenase enzyme activity in human volunteers Autor Jacobs, Bart A. W., Deenen, Maarten J., Pluim, Dick, Hasselt, J. G. Coen, Krähenbühl, Martin D., Geel, Robin M. J. M., Vries, Niels, Rosing, Hilde, Meulendijks, Didier, Burylo, Artur M., Cats, Annemieke, Beijnen, Jos H., Huitema, Alwin D. R., Schellens, Jan H. M.

“… between‐subject variability (BSV) and circadian rhythmicity in DPD and TS activity in human volunteers…”
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Visualization of hepatic uptake transporter function in healthy subjects by using gadoxetic acid-enhanced MR imaging Autor Nassif, Ali, Jia, Jia, Keiser, Markus, Oswald, Stefan, Modess, Christiane, Nagel, Stefan, Weitschies, Werner, Hosten, Norbert, Siegmund, Werner, Kühn, Jens-Peter

“…) 1B1 and OATP1B3 influence cellular uptake of gadoxetic acid in vitro and if functionally relevant polymorphisms are confounders for liver enhancement by gadoxetic acid in healthy subjects…”
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The Role of Bacteria in the Pathogenesis and Progression of Idiopathic Pulmonary Fibrosis Autor Molyneaux, Phillip L., Cox, Michael J., Willis-Owen, Saffron A. G., Mallia, Patrick, Russell, Kirsty E., Russell, Anne-Marie, Murphy, Elissa, Johnston, Sebastian L., Schwartz, David A., Wells, Athol U., Cookson, William O. C., Maher, Toby M., Moffatt, Miriam F.

“… together with healthy smokers, nonsmokers, and subjects with moderate chronic obstructive pulmonary disease as control subjects…”
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Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization Autor Hicks, J Kevin, Swen, Jesse J, Gaedigk, Andrea

“…The cytochrome P450 2D6 (CYP2D6) enzyme contributes to the metabolism and/or bioactivation of approximately 25% of clinically used drugs. The CYP2D6 gene locus…”
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