Results 101 to 110 of about 4,615,445 (390)

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

Bioinform., 2015
UNLABELLED Annotating genetic variants, especially non-coding variants, for the purpose of identifying pathogenic variants remains a challenge. Combined annotation-dependent depletion (CADD) is an algorithm designed to annotate both coding and non-coding
Daniel Quang, Yifei Chen, Xiaohui Xie
semanticscholar   +1 more source

Association of genetic variants with dyslipidemia

Molecular Medicine Reports, 2015
Although genetic variants, which regulate lipid metabolism, have been extensively investigated in Caucasian populations, the genes, which confer susceptibility to dyslipidemia in Japanese individuals, remain to be elucidated. The aim of the present study was to examine a possible association among hypertriglyceridemia, hypo‑high density lipoprotein ...
Kimihiko Kato, Tetsuo Fujimaki, Shintaro Abe, Sachiro Watanabe, Shinya Minatoguchi, Mitsutoshi Oguri, Masazumi Arai, Yoshiji Yamada, Hideki Horibe, Reiko Matsuoka, Toshiyuki Noda, Fumitaka Tokoro   +11 more
openaire   +4 more sources

Characterizing genetic variants for clinical action [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
Genome‐wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients.
Eric D. Green, Jonathan S. Berg, Ned Calonge, Howard L. McLeod, Bruce Blumberg, Bruce Blumberg, William A. Knaus, Gurvaneet Randhawa, Rex L. Chisholm, Matthew E. Hurles, David H. Ledbetter, Donna Maglott, Erynn S. Gordon, Naomi Aronson, Robert C. Green, Robert C. Green, Elaine Lyon, Corina Din-Lovinescu, Paul Flicek, Marc S. Williams, Leslie G. Biesecker, Kensaku Kawamoto, Nazneen Rahman, Erin M. Ramos, Howard P. Levy, Lisa D. Brooks, Michael Dunn, Peter Good, Helen M. Colhoun, Stephen T. Sherry, Catherine Wicklund, Teri A. Manolio, Audrey Duncanson, Christopher J. O'Donnell, Gail P. Jarvik, Tim Hubbard, Robert S. Epstein   +36 more
openaire   +4 more sources

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia

Molecular Genetics & Genomic Medicine
Background This study aimed to investigate the association between genetic variants of ERAP1 (OMIM: 606832) and psoriasis vulgaris (PsV) susceptibility in Inner Mongolia Han nationality.
Xin Li, Jia Bao, Liya Ai, Fan‐Rui Yang, Bo Yu, Yan‐Ping Huang, Na Li, Wen‐Yuan Ding, Zhi‐Qiang Sun, Xin‐Xiang Lv, Jian‐Wen Han   +10 more
doaj   +1 more source

Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy

Circulation, 2019
Supplemental Digital Content is available in the text.
P. García-Pavía, Yuri Kim, M. A. Restrepo-Córdoba, I. Lunde, H. Wakimoto, A. Smith, Christopher N Toepfer, K. Getz, J. Gorham, Parth N. Patel, Kaoru Ito, J. A. Willcox, Z. Arany, Jian Li, A. Owens, R. Govind, B. Nuñez, Erica Mazaika, A. Bayés‐Genís, R. Walsh, B. Finkelman, J. Lupón, N. Whiffin, I. Serrano, W. Midwinter, Alicja E Wilk, A. Bardají, N. Ingold, R. Buchan, U. Tayal, D. Pascual-Figal, A. de Marvao, Mian Ahmad, J. M. García-Pinilla, A. Pantazis, F. Domínguez, A. John Baksi, D. O’Regan, S. Rosen, S. Prasad, E. Lara-Pezzi, M. Provencio, A. Lyon, L. Alonso-Pulpón, S. Cook, S. DePalma, P. Barton, R. Aplenc, J. Seidman, B. Ky, J. Ware, C. Seidman   +51 more
semanticscholar   +1 more source

Protonophore activity of short‐chain fatty acids induces their intracellular accumulation and acidification

FEBS Letters, EarlyView.
The protonated form of butyrate, as well as other short‐chain fatty acids (SCFAs), is membrane permeable. In acidic extracellular environments, this can lead to intracellular accumulation of SCFAs and cytosolic acidification. This phenomenon will be particularly relevant in acidic environments such as the large intestine or tumor microenvironments ...
Muwei Jiang, Frans Bianchi, Geert van den Bogaart   +2 more
wiley   +1 more source

Integrating rare genetic variants into pharmacogenetic drug response predictions

Human Genomics, 2018
Variability in genes implicated in drug pharmacokinetics or drug response can modulate treatment efficacy or predispose to adverse drug reactions. Besides common genetic polymorphisms, recent sequencing projects revealed a plethora of rare genetic ...
M. Ingelman-Sundberg, S. Mkrtchian, Yitian Zhou, V. Lauschke   +3 more
semanticscholar   +1 more source

Genetic variants linked to education predict longevity [PDF]

Proceedings of the National Academy of Sciences, 2016
Significance Individuals with more education tend to live longer. Genetic variants have been discovered that predict educational attainment. We tested whether a “polygenic score” based on these genetic variants could make predictions about people’s lifespan.
Klaus Berger, Edith Hofer, Ginevra Biino, Tune H. Pers, Tune H. Pers, Behrooz Z. Alizadeh, Olli T. Raitakari, David A. Bennett, Paolo Gasparini, Paolo Gasparini, Markus Perola, Markus Perola, George McMahon, Reka Nagy, Chris Power, William G. Iacono, R. J. Scott, Peter Vollenweider, G. Thorleifsson, N.A. Furlotte, Kadri Kaasik, Liisa Keltigangas-Jarvinen, A Payton, Joyce Y. Tung, Marjo-Riitta Järvelin, Ute Bültmann, Jessica D. Faul, Z. Kutalik, Z. Kutalik, Z. Kutalik, Neil Pendleton, Neil Pendleton, J. E. De Neve, Henry Völzke, Pascal Timshel, Pascal Timshel, Pascal Timshel, Alan F. Wright, Elina Hyppönen, Elina Hyppönen, Michael B. Miller, Jaakko Kaprio, Jaakko Kaprio, W. E. R. Ollier, Peter K. Joshi, Magnus Johannesson, Natalia Pervjakova, Natalia Pervjakova, Ilja Demuth, Richa Gupta, Sharon L.R. Kardia, Mark Alan Fontana, Danielle Posthuma, S. J. van der Lee, R. de Vlaming, Ivana Kolcic, Wolfgang Hoffmann, Lavinia Paternoster, Karl-Oskar Lindgren, Amy Hofman, Christopher Oldmeadow, Saskia P. Hagenaars, Nicola Pirastu, Antonietta Robino, Joseph K. Pickrell, Jaime Derringer, Jari Lahti, P. J. van der Most, Douglas F. Levinson, Kristi Läll, Georg Homuth, Aldo Rustichini, David Schlessinger, S. E. Baumeister, S. E. Baumeister, Campbell A, P. van der Harst, Albert V. Smith, Abdel Abdellaoui, Michael A. Province, Tomi Mäki-Opas, Cristina Venturini, Cristina Venturini, Massimo Mangino, Massimo Mangino, Gonneke Willemsen, Sarah E. Harris, B. V. Halldórsson, B. V. Halldórsson, Penelope A. Lind, Reedik Mägi, Bo Jacobsson, Terho Lehtimäki, Jennifer E. Huffman, WD Hill, Zhihong Zhu, Peter M. Visscher, Jonas Bacelis, Elizabeth G. Holliday, Barbera Franke, Kevin Thom, Nicholas G. Martin, Konstantin Strauch, Wei Zhao, Peter Eibich, Peter Eibich, Antti Latvala, F. J.A. Van Rooij, Krista Fischer, K. H. Jöckel, Ronny Myhre, Johannes H. Brandsma, Stavroula Kanoni, Michelle N. Meyer, Jouke-Jan Hottenga, Christine Meisinger, Veikko Salomaa, Katharina E. Schraut, Giorgia Girotto, Jan A. Staessen, Jan A. Staessen, Tia Sorensen, Tia Sorensen, Tia Sorensen, Ioanna-Panagiota Kalafati, Yong Qian, L. Eisele, Patrick Turley, Patrick J. F. Groenen, Leanne M. Hall, Leanne M. Hall, Jonathan P. Beauchamp, George Davey Smith, Sven Oskarsson, Lili Milani, N. Eklund, Sarah E. Medland, Gerardus A. Meddens, Valur Emilsson, Mark Adams, George Dedoussis, Robert Karlsson, Johannes Waage, Johannes Waage, Y. Milaneschi, Jianxin Shi, Najaf Amin, David Cesarini, S.F.W. Meddens, A.R. Thurik, A.R. Thurik, A.R. Thurik, Carmen Amador, Paul Lichtenstein, Patricia A. Boyle, Brenda W.J.H. Penninx, Francesco P. Cappuccio, Nancy L. Pedersen, Steven F. Lehrer, Steven F. Lehrer, Tõnu Esko, David A. Hinds, Gyda Bjornsdottir, Lynne J. Hocking, Andres Metspalu, B. St Pourcain, Clemens Baumbach, Dale R. Nyholt, Aysu Okbay, Jennifer A. Smith, Philipp Koellinger, Philipp Koellinger, Philipp Koellinger, Jun Ding, Pamela A. F. Madden, Börge Schmidt, Robert F. Krueger, Andrew Bakshi, Christopher P. Nelson, Christopher P. Nelson, Astanand Jugessur, Thomas Meitinger, Tian Liu, Raymond A. Poot, Momoko Horikoshi, Momoko Horikoshi, Wouter J. Peyrot, S. Ulivi, Ilaria Gandin, Tessel E. Galesloot, Kari Stefansson, Kari Stefansson, Blair H. Smith, James F. Wilson, E. Mihailov, Hannah Campbell, Lydia Quaye, Martin Kroh, Daniel J. Benjamin, Daniel J. Benjamin, Dragana Vuckovic, Patrik K. E. Magnusson, Catharine R. Gale, Antonio Terracciano, Diego Vozzi, Ian J. Deary, Lambertus A. Kiemeney, Pedro Marques-Vidal, Ozren Polasek, Klaus Bønnelykke, Erika Salvi, Riccardo E. Marioni, Lude Franke, Niek Verweij, C. de Leeuw, Mary F. Feitosa, Igor Rudan, C M van Duijn, A. Palotie, Mika Kähönen, Maria Pina Concas, Vilmundur Gudnason   +221 more
openaire   +13 more sources

A stepwise emergence of evolution in the RNA world

FEBS Letters, EarlyView.
How did biological evolution emerge from chemical reactions? This perspective proposes a gradual scenario of self‐organization among RNA molecules, where catalytic feedback on random mixtures plays the central role. Short oligomers cross‐ligate, and self‐assembly enables heritable variations. An event of template‐externalization marks the transition to
Philippe Nghe
wiley   +1 more source