Zobrazeno 1 - 10
of 20 297 030
pro vyhledávání: '"the D"'
RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function
Autor:
Julia M. Hartman, Kobe Ikegami, Marina Provenzano, Kameron Bates, Amanda Butler, Aileen S. Jones, Kiera N. Berggren, Jeanne Dekdebrun, Marnee J. McKay, Jennifer N. Baldwin, Kayla M. D. Cornett, Joshua Burns, Michael Kiefer, Nicholas E. Johnson, Melissa A. Hale, the DMCRN Consortium
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 12, Pp 3175-3191 (2024)
Abstract Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myoto
Externí odkaz:
https://doaj.org/article/39ea475afc2640619fc2a601ba893d7c
Autor:
Kwangsik Nho, Shannon L. Risacher, Liana G. Apostolova, Paula J. Bice, Jared R. Brosch, Rachael Deardorff, Kelley Faber, Martin R. Farlow, Tatiana Foroud, Sujuan Gao, Thea Rosewood, Jun Pyo Kim, Kelly Nudelman, Meichen Yu, Paul Aisen, Reisa Sperling, Basavaraj Hooli, Sergey Shcherbinin, Diana Svaldi, Clifford R. Jack, William J. Jagust, Susan Landau, Aparna Vasanthakumar, Jeffrey F. Waring, Vincent Doré, Simon M. Laws, Colin L. Masters, Tenielle Porter, Christopher C. Rowe, Victor L. Villemagne, Logan Dumitrescu, Timothy J. Hohman, Julia B. Libby, Elizabeth Mormino, Rachel F. Buckley, Keith Johnson, Hyun-Sik Yang, Ronald C. Petersen, Vijay K. Ramanan, Nilüfer Ertekin-Taner, Prashanthi Vemuri, Ann D. Cohen, Kang-Hsien Fan, M. Ilyas Kamboh, Oscar L. Lopez, David A. Bennett, Muhammad Ali, Tammie Benzinger, Carlos Cruchaga, Diana Hobbs, Philip L. De Jager, Masashi Fujita, Vaishnavi Jadhav, Bruce T. Lamb, Andy P. Tsai, Isabel Castanho, Jonathan Mill, Michael W. Weiner, for the Alzheimer’s Disease Neuroimaging Initiative (ADNI), the Department of Defense Alzheimer’s Disease Neuroimaging Initiative (DoD-ADNI), the Anti-Amyloid Treatment in Asymptomatic Alzheimer’s Study (A4 Study) and Longitudinal Evaluation of Amyloid Risk and Neurodegeneration (LEARN), the Australian Imaging, Biomarker & Lifestyle Study (AIBL), Andrew J. Saykin
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Determining the genetic architecture of Alzheimer’s disease pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we perform a genome-wide association study of cortical tau quantified by positron
Externí odkaz:
https://doaj.org/article/534dba93d5bf4620975ce9a0f564baf7
Autor:
Marc Parsons, Lu Qiu, Brooke Levis, Suiqiong Fan, Ying Sun, Lara S. N. Amiri, Daphna Harel, Sarah Markham, Simone N. Vigod, Roy C. Ziegelstein, Yin Wu, Jill T. Boruff, Pim Cuijpers, Simon Gilbody, Scott B. Patten, Andrea Benedetti, Brett D. Thombs, the DEPRESsion Screening Data (DEPRESSD) GDS Group
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Depression questionnaire cutoffs are calibrated for screening accuracy and not to assess prevalence, but the Geriatric Depression Scale (GDS-15) is often used to estimate diagnostic prevalence among older adults, most commonly with scores of
Externí odkaz:
https://doaj.org/article/1dc833b786b14809b9653ee6d04cbb7c
Autor:
The Daya Bay collaboration, F. P. An, W. D. Bai, A. B. Balantekin, M. Bishai, S. Blyth, G. F. Cao, J. Cao, J. F. Chang, Y. Chang, H. S. Chen, H. Y. Chen, S. M. Chen, Y. Chen, Y. X. Chen, Z. Y. Chen, J. Cheng, Y.-C. Cheng, Z. K. Cheng, J. J. Cherwinka, M. C. Chu, J. P. Cummings, O. Dalager, F. S. Deng, X. Y. Ding, Y. Y. Ding, M. V. Diwan, T. Dohnal, D. Dolzhikov, J. Dove, K. V. Dugas, H. Y. Duyang, D. A. Dwyer, J. P. Gallo, M. Gonchar, G. H. Gong, H. Gong, W. Q. Gu, J. Y. Guo, L. Guo, X. H. Guo, Y. H. Guo, Z. Guo, R. W. Hackenburg, Y. Han, S. Hans, M. He, K. M. Heeger, Y. K. Heng, Y. K. Hor, Y. B. Hsiung, B. Z. Hu, J. R. Hu, T. Hu, Z. J. Hu, H. X. Huang, J. H. Huang, X. T. Huang, Y. B. Huang, P. Huber, D. E. Jaffe, K. L. Jen, X. L. Ji, X. P. Ji, R. A. Johnson, D. Jones, L. Kang, S. H. Kettell, S. Kohn, M. Kramer, T. J. Langford, J. Lee, J. H. C. Lee, R. T. Lei, R. Leitner, J. K. C. Leung, F. Li, H. L. Li, J. J. Li, Q. J. Li, R. H. Li, S. Li, S. C. Li, W. D. Li, X. N. Li, X. Q. Li, Y. F. Li, Z. B. Li, H. Liang, C. J. Lin, G. L. Lin, S. Lin, J. J. Ling, J. M. Link, L. Littenberg, B. R. Littlejohn, J. C. Liu, J. L. Liu, J. X. Liu, C. Lu, H. Q. Lu, K. B. Luk, B. Z. Ma, X. B. Ma, X. Y. Ma, Y. Q. Ma, R. C. Mandujano, C. Marshall, K. T. McDonald, R. D. McKeown, Y. Meng, J. Napolitano, D. Naumov, E. Naumova, T. M. T. Nguyen, J. P. Ochoa-Ricoux, A. Olshevskiy, J. Park, S. Patton, J. C. Peng, C. S. J. Pun, F. Z. Qi, M. Qi, X. Qian, N. Raper, J. Ren, C. Morales Reveco, R. Rosero, B. Roskovec, X. C. Ruan, B. Russell, H. Steiner, J. L. Sun, T. Tmej, W.-H. Tse, C. E. Tull, Y. C. Tung, B. Viren, V. Vorobel, C. H. Wang, J. Wang, M. Wang, N. Y. Wang, R. G. Wang, W. Wang, X. Wang, Y. F. Wang, Z. Wang, Z. M. Wang, H. Y. Wei, L. H. Wei, W. Wei, L. J. Wen, K. Whisnant, C. G. White, H. L. H. Wong, E. Worcester, D. R. Wu, Q. Wu, W. J. Wu, D. M. Xia, Z. Q. Xie, Z. Z. Xing, H. K. Xu, J. L. Xu, T. Xu, T. Xue, C. G. Yang, L. Yang, Y. Z. Yang, H. F. Yao, M. Ye, M. Yeh, B. L. Young, H. Z. Yu, Z. Y. Yu, B. B. Yue, V. Zavadskyi, S. Zeng, Y. Zeng, L. Zhan, C. Zhang, F. Y. Zhang, H. H. Zhang, J. L. Zhang, J. W. Zhang, Q. M. Zhang, S. Q. Zhang, X. T. Zhang, Y. M. Zhang, Y. X. Zhang, Y. Y. Zhang, Z. J. Zhang, Z. P. Zhang, Z. Y. Zhang, J. Zhao, R. Z. Zhao, L. Zhou, H. L. Zhuang, J. H. Zou
Publikováno v:
Journal of High Energy Physics, Vol 2024, Iss 5, Pp 1-36 (2024)
Abstract The full data set of the Daya Bay reactor neutrino experiment is used to probe the effect of the charged current non-standard interactions (CC-NSI) on neutrino oscillation experiments. Two different approaches are applied and constraints on
Externí odkaz:
https://doaj.org/article/700236ed60e54506a655d8f0edc7750f
Autor:
Thijs A. Lilien, Dominic W. Fenn, Paul Brinkman, Laura A. Hagens, Marry R. Smit, Nanon F. L. Heijnen, Job B. M. van Woensel, Lieuwe D. J. Bos, Reinout A. Bem, the DARTS study group
Publikováno v:
Intensive Care Medicine Experimental, Vol 12, Iss 1, Pp 1-11 (2024)
Abstract Background Exhaled volatile organic compounds (VOCs), particularly hydrocarbons from oxidative stress-induced lipid peroxidation, are associated with hyperoxia exposure. However, important heterogeneity amongst identified VOCs and concerns a
Externí odkaz:
https://doaj.org/article/018d4863b1d84f2099021cd074a8e7c3
Autor:
Zelalem F. Negeri, Brooke Levis, John P. A. Ioannidis, Brett D. Thombs, Andrea Benedetti, the DEPRESsion Screening Data (DEPRESSD) EPDS Group
Publikováno v:
BMC Medical Research Methodology, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Selective reporting of results from only well-performing cut-offs leads to biased estimates of accuracy in primary studies of questionnaire-based screening tools and in meta-analyses that synthesize results. Individual participant
Externí odkaz:
https://doaj.org/article/0f3a2dcead574fb4a85d1bcf61474e64
Autor:
Yordi J. van de Vegte, Ruben N. Eppinga, M. Yldau van der Ende, Yanick P. Hagemeijer, Yuvaraj Mahendran, Elias Salfati, Albert V. Smith, Vanessa Y. Tan, Dan E. Arking, Ioanna Ntalla, Emil V. Appel, Claudia Schurmann, Jennifer A. Brody, Rico Rueedi, Ozren Polasek, Gardar Sveinbjornsson, Cecile Lecoeur, Claes Ladenvall, Jing Hua Zhao, Aaron Isaacs, Lihua Wang, Jian’an Luan, Shih-Jen Hwang, Nina Mononen, Kirsi Auro, Anne U. Jackson, Lawrence F. Bielak, Linyao Zeng, Nabi Shah, Maria Nethander, Archie Campbell, Tuomo Rankinen, Sonali Pechlivanis, Lu Qi, Wei Zhao, Federica Rizzi, Toshiko Tanaka, Antonietta Robino, Massimiliano Cocca, Leslie Lange, Martina Müller-Nurasyid, Carolina Roselli, Weihua Zhang, Marcus E. Kleber, Xiuqing Guo, Henry J. Lin, Francesca Pavani, Tessel E. Galesloot, Raymond Noordam, Yuri Milaneschi, Katharina E. Schraut, Marcel den Hoed, Frauke Degenhardt, Stella Trompet, Marten E. van den Berg, Giorgio Pistis, Yih-Chung Tham, Stefan Weiss, Xueling S. Sim, Hengtong L. Li, Peter J. van der Most, Ilja M. Nolte, Leo-Pekka Lyytikäinen, M. Abdullah Said, Daniel R. Witte, Carlos Iribarren, Lenore Launer, Susan M. Ring, Paul S. de Vries, Peter Sever, Allan Linneberg, Erwin P. Bottinger, Sandosh Padmanabhan, Bruce M. Psaty, Nona Sotoodehnia, Ivana Kolcic, The DCCT/EDIC Research Group, David O. Arnar, Daniel F. Gudbjartsson, Hilma Holm, Beverley Balkau, Claudia T. Silva, Christopher H. Newton-Cheh, Kjell Nikus, Perttu Salo, Karen L. Mohlke, Patricia A. Peyser, Heribert Schunkert, Mattias Lorentzon, Jari Lahti, Dabeeru C. Rao, Marilyn C. Cornelis, Jessica D. Faul, Jennifer A. Smith, Katarzyna Stolarz-Skrzypek, Stefania Bandinelli, Maria Pina Concas, Gianfranco Sinagra, Thomas Meitinger, Melanie Waldenberger, Moritz F. Sinner, Konstantin Strauch, Graciela E. Delgado, Kent D. Taylor, Jie Yao, Luisa Foco, Olle Melander, Jacqueline de Graaf, Renée de Mutsert, Eco J. C. de Geus, Åsa Johansson, Peter K. Joshi, Lars Lind, Andre Franke, Peter W. Macfarlane, Kirill V. Tarasov, Nicholas Tan, Stephan B. Felix, E-Shyong Tai, Debra Q. Quek, Harold Snieder, Johan Ormel, Martin Ingelsson, Cecilia Lindgren, Andrew P. Morris, Olli T. Raitakari, Torben Hansen, Themistocles Assimes, Vilmundur Gudnason, Nicholas J. Timpson, Alanna C. Morrison, Patricia B. Munroe, David P. Strachan, Niels Grarup, Ruth J. F. Loos, Susan R. Heckbert, Peter Vollenweider, Caroline Hayward, Kari Stefansson, Philippe Froguel, Leif Groop, Nicholas J. Wareham, Cornelia M. van Duijn, Mary F. Feitosa, Christopher J. O’Donnell, Mika Kähönen, Markus Perola, Michael Boehnke, Sharon L. R. Kardia, Jeanette Erdmann, Colin N. A. Palmer, Claes Ohlsson, David J. Porteous, Johan G. Eriksson, Claude Bouchard, Susanne Moebus, Peter Kraft, David R. Weir, Daniele Cusi, Luigi Ferrucci, Sheila Ulivi, Giorgia Girotto, Adolfo Correa, Stefan Kääb, Annette Peters, John C. Chambers, Jaspal S. Kooner, Winfried März, Jerome I. Rotter, Andrew A. Hicks, J. Gustav Smith, Lambertus A. L. M. Kiemeney, Dennis O. Mook-Kanamori, Brenda W. J. H. Penninx, Ulf Gyllensten, James F. Wilson, Stephen Burgess, Johan Sundström, Wolfgang Lieb, J. Wouter Jukema, Mark Eijgelsheim, Edward L. M. Lakatta, Ching-Yu Cheng, Marcus Dörr, Tien-Yin Wong, Charumathi Sabanayagam, Albertine J. Oldehinkel, Harriette Riese, Terho Lehtimäki, Niek Verweij, Pim van der Harst
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Abstract Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain
Externí odkaz:
https://doaj.org/article/3c84ab4f05154b7e8a3a7baac64d83e1
Autor:
Andrew A. Brown, Juan J. Fernandez-Tajes, Mun-gwan Hong, Caroline A. Brorsson, Robert W. Koivula, David Davtian, Théo Dupuis, Ambra Sartori, Theodora-Dafni Michalettou, Ian M. Forgie, Jonathan Adam, Kristine H. Allin, Robert Caiazzo, Henna Cederberg, Federico De Masi, Petra J. M. Elders, Giuseppe N. Giordano, Mark Haid, Torben Hansen, Tue H. Hansen, Andrew T. Hattersley, Alison J. Heggie, Cédric Howald, Angus G. Jones, Tarja Kokkola, Markku Laakso, Anubha Mahajan, Andrea Mari, Timothy J. McDonald, Donna McEvoy, Miranda Mourby, Petra B. Musholt, Birgitte Nilsson, Francois Pattou, Deborah Penet, Violeta Raverdy, Martin Ridderstråle, Luciana Romano, Femke Rutters, Sapna Sharma, Harriet Teare, Leen ‘t Hart, Konstantinos D. Tsirigos, Jagadish Vangipurapu, Henrik Vestergaard, Søren Brunak, Paul W. Franks, Gary Frost, Harald Grallert, Bernd Jablonka, Mark I. McCarthy, Imre Pavo, Oluf Pedersen, Hartmut Ruetten, Mark Walker, The DIRECT Consortium, Jerzy Adamski, Jochen M. Schwenk, Ewan R. Pearson, Emmanouil T. Dermitzakis, Ana Viñuela
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract We evaluate the shared genetic regulation of mRNA molecules, proteins and metabolites derived from whole blood from 3029 human donors. We find abundant allelic heterogeneity, where multiple variants regulate a particular molecular phenotype,
Externí odkaz:
https://doaj.org/article/03b888dddec54ecd93647492ab5dd5aa
Autor:
Anne K. Monroe, Paige E. Kulie, Morgan E. Byrne, Brittany C. Wilbourn, Shannon K. Barth, Jenna B. Resnik, David M. Huebner, Michael A. Horberg, Amanda D. Castel, Alan E. Greenberg, the DC Cohort Executive Committee
Publikováno v:
AIDS Research and Therapy, Vol 20, Iss 1, Pp 1-10 (2023)
Abstract Background COVID-19 has not only taken a staggering toll in terms of cases and lives lost, but also in its psychosocial effects. We assessed the psychosocial impacts of the COVID-19 pandemic in a large cohort of people with HIV (PWH) in Wash
Externí odkaz:
https://doaj.org/article/4d79d006652144038b95193277125a03
Autor:
Kiersten K. Forsyth, Brianah M. McCoy, Sarah M. Schmid, Daniel E. L. Promislow, Noah Snyder-Mackler, the DAP Consortium, Joshua M. Akey, Brooke Benton, Elhanan Borenstein, Marta G. Castelhano, Amanda E. Coleman, Kate E. Creevy, Kyle Crowder, Matthew D. Dunbar, Virginia R. Fajt, Annette L. Fitzpatrick, Unity Jeffery, Erica C Jonlin, Matt Kaeberlein, Elinor K. Karlsson, Kathleen F. Kerr, Jonathan M. Levine, Jing Ma, Robyn L McClelland, Audrey Ruple, Stephen M. Schwartz, Sandi Shrager, M. Katherine Tolbert, Silvan R. Urfer, Benjamin S. Wilfond
Publikováno v:
Frontiers in Veterinary Science, Vol 10 (2023)
IntroductionLarge scale data on the prevalence of diverse medical conditions among dog breeds in the United States are sparse. This cross-sectional study sought to estimate the lifetime prevalence of medical conditions among US dogs and to determine
Externí odkaz:
https://doaj.org/article/364df0fc30b3463485ed60d13efb7929