Results 61 to 70 of about 4,615,445 (390)

Substrate Specificity of CYP2D6 Genetic Variants

Pharmacogenomics, 2021
Genetic variation in the gene encoding CYP2D6 is used to guide drug prescribing in clinical practice. However, genetic variants in CYP2D6 show substrate-specific effects that are currently not accounted for. With a systematic literature, we retrieved 22 original studies describing in vitro experiments focusing on CYP2D6 alleles (CYP2D6*1, *2, *10 and ...
Lee, M. van der, Guchelaar, H.J., Swen, J.J.   +2 more
openaire   +3 more sources

Genome-wide association study identifies common and low-frequency variants at the AMHgene locus that strongly predict serum AMH levels in males [PDF]

, 2016
Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females.
Day, Felix R., Lawlor, Debbie A., McMahon, George, Nelson, Scott M., Perry, John R.B., Ring, Susan M.   +5 more
core   +1 more source

Genetic Variants And Atherosclerosis

, 2009
{"references": ["Maton, Anthea, Roshan L,et al. Human Biology and Health. Englewood\nCliffs, New Jersey, USA: Prentice Hall. (1993); ISBN 0-13-981176-1.\nOCLC 32308337", "Ridker PM. Inflammation, atherosclerosis, and cardiovascular risk: an\nepidemiologic view. Blood Coagul Fibrinolysis.
M. Seifi, A. Ghasemi, M. Khosravi, M. Salimi, S. Jahandideh, J. Sherizadeh, F. S. Hashemizadeh, R. Khodaei   +7 more
openaire   +2 more sources

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. [PDF]

PLoS Genetics, 2013
Whole-exome or gene targeted resequencing in hundreds to thousands of individuals has shown that the majority of genetic variants are at low frequency in human populations.
Ferran Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean-Christophe Grenier, Elias Gbeha, Fadi F Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L Michaud, Guy A Rouleau, Elie Haddad, Françoise Le Deist, Philip Awadalla   +20 more
doaj   +1 more source

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders [PDF]

, 2016
Personality is influenced by genetic and environmental factors1 and associated with mental health. However, the underlying genetic determinants are largely unknown.
A Okbay, A Ramasamy, AE Poropat, Anders M Dale, Andrew Schork, B Bulik-Sullivan, B Devlin, B Franke, B Howie, BK Bulik-Sullivan, BM Henn, C Giambartolomei, CA Rietveld, Carol Franz, CG DeYoung, Chi-Hua Chen, Chun-Chieh Fan, CJ Soto, CJ Willer, D Falush, D Trabzuni, Daniel J Smith, David A Hinds, DF Gudbjartsson, DJ Smith, Dominic Holland, DP Hibar, DR Nyholt, E Green, G Bjornsdottir, Gyda Bjornsdottir, HC So, HN Kim, Hreinn Stefansson, J Van Os, J Yang, JA Gray, JH Barnett, JK Pickrell, JM Hettema, Joyce Y Tung, JR Gulcher, K Åberg, Kari Stefansson, Karolina Kauppi, KS Kendler, L Mezquita, Linda K McEvoy, LR Goldberg, MA Distel, MH de Moor, MH de Moor, Michael O'Donovan, Min-Tzu Lo, Nilotpal Sanyal, Olav B Smeland, Ole A Andreassen, P Bůžková, R Plomin, R Tabarés-Seisdedos, RA Power, RA Power, RJ Pruim, S Jakobwitz, S Purcell, S Ripke, SBG Eysenck, SL Karalunas, SM van den Berg, SM van den Berg, SR Browning, T Insel, T Vukasović, TA Greenwood, Thorgeir E Thorgeirsson, TJ Trull, V Boraska, Valentina Escott-Price, WK Thompson, Y Hu, Y Ono, Y Wang, Yunpeng Wang   +82 more
core   +3 more sources

FinnGen provides genetic insights from a well-phenotyped isolated population

Nature, 2023
Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common
M. Kurki, J. Karjalainen, P. Palta, Timo P. Sipilä, K. Kristiansson, K. Donner, M. Reeve, H. Laivuori, M. Aavikko, M. Kaunisto, A. Loukola, E. Lahtela, Hannele Mattsson, P. Laiho, Pietro della Briotta Parolo, Arto A Lehisto, M. Kanai, N. Mars, Joel T. Rämö, T. Kiiskinen, H. Heyne, K. Veerapen, S. Rüeger, S. Lemmelä, Wei Zhou, S. Ruotsalainen, K. Pärn, T. Hiekkalinna, Sami Koskelainen, T. Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, H. Siirtola, Kadri Reis, A. Elnahas, B. Sun, Christopher N. Foley, K. Aalto-Setälä, Kaur Alasoo, Mikko Arvas, K. Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, O. Carpén, Chia-Yen Chen, O. A. Dada, Zhihao Ding, M. Ehm, K. Eklund, M. Färkkilä, H. Finucane, A. Ganna, A. Ghazal, R. Graham, Eric M. Green, A. Hakanen, M. Hautalahti, Å. Hedman, M. Hiltunen, R. Hinttala, I. Hovatta, Xinli Hu, A. Huertas-Vazquez, L. Huilaja, J. Hunkapiller, H. Jacob, J. Jensen, H. Joensuu, Sally John, Valtteri Julkunen, M. Jung, J. Junttila, K. Kaarniranta, M. Kähönen, Risto Kajanne, Lila Kallio, R. Kälviäinen, J. Kaprio, N. Kerimov, J. Kettunen, Elina Kilpeläinen, T. Kilpi, Katherine W. Klinger, V. Kosma, T. Kuopio, Venla Kurra, T. Laisk, J. Laukkanen, Nathan Lawless, Aoxing Liu, S. Longerich, R. Mägi, J. Mäkelä, Antti A. Mäkitie, A. Malarstig, A. Mannermaa, Joseph C Maranville, A. Matakidou, T. Meretoja, S. Mozaffari, Mari E. K. Niemi, Mari E. K. Niemi, T. Niiranen, Christopher J O 'donnell, M. Obeidat, G. Okafo, H. Ollila, A. Palomäki, T. Palotie, J. Partanen, D. Paul, Margit K. Pelkonen, Rion K. Pendergrass, S. Petrovski, A. Pitkäranta, A. Platt, D. Pulford, E. Punkka, P. Pussinen, Neha S. Raghavan, F. Rahimov, D. Rajpal, N. Renaud, B. Riley-Gillis, R. Rodosthenous, Elmo Saarentaus, A. Salminen, Eveliina Salminen, V. Salomaa, J. Schleutker, R. Serpi, Huei-yi Shen, R. Siegel, K. Silander, S. Siltanen, S. Soini, H. Soininen, J. Sul, I. Tachmazidou, K. Tasanen, P. Tienari, S. Toppila-Salmi, T. Tukiainen, T. Tuomi, J. Turunen, J. Ulirsch, Felix C. Vaura, P. Virolainen, J. Waring, D. Waterworth, Robert Yang, M. Nelis, A. Reigo, A. Metspalu, L. Milani, T. Esko, Caroline Fox, A. Havulinna, M. Perola, S. Ripatti, A. Jalanko, Tarja Laitinen, T. Mäkelä, R. Plenge, M. McCarthy, H. Runz, M. Daly, A. Palotie   +167 more
semanticscholar   +1 more source

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has identified numerous disease‐causing variants, but few studies have evaluated genetic testing outcomes in this population in the context of patient and familial ...
Daniel Quiat, Leora Witkowski, Hana Zouk, Kevin P. Daly, Amy E. Roberts   +4 more
doaj   +1 more source

ForestQC: Quality control on genetic variants from next-generation sequencing data using random forest. [PDF]

, 2019
Next-generation sequencing technology (NGS) enables the discovery of nearly all genetic variants present in a genome. A subset of these variants, however, may have poor sequencing quality due to limitations in NGS or variant callers.
Coppola, Giovanni, Freimer, Nelson B, Hwang, Sungoo, Jew, Brandon, Li, Jiajin, Sul, Jae Hoon, Zhan, Lingyu   +6 more
core   +1 more source

Ethnic differences in adiposity and diabetes risk – insights from genetic studies [PDF]

, 2020
Type 2 diabetes is more common in non-Europeans and starts at a younger age and at lower BMI cut-offs. This review discusses the insights from genetic studies about pathophysiological mechanisms which determine risk of disease with a focus on the role of
Bell, J.D., Bell, J.D., Thomas, E.L., Thomas, E.L., Whitcher, B., Whitcher, B., Yaghootkar, H., Yaghootkar, H.   +7 more
core   +2 more sources

Novel Genetic Variants of CDC25A Significantly Increase Risk of Spermatogenesis Arrest in Men from Bengali Population, India: A Cross-Sectional Study

Journal of Human Reproductive Sciences
Background: Idiopathic azoospermia is one of the most common reasons for male infertility, but little is known about its genetic origins. The CDC25A gene, a meiotic core regulator, encodes a phosphatase that triggers the G1/S transition of meiosis.
Samudra Pal, Pranab Paladhi, Saurav Dutta, Ratna Chattopadhyay, Sujay Ghosh   +4 more
doaj   +1 more source