Results 41 to 50 of about 11,305,394 (400)

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs   +7 more
doaj   +1 more source

The zebrafish reference genome sequence and its relationship to the human genome

Nature, 2013
Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of ...
K. Howe, M. Clark, C. Torroja, J. Torrance, Camille Berthelot, Matthieu Muffato, John E. Collins, S. Humphray, K. McLaren, L. Matthews, Stuart Mclaren, I. Sealy, M. Cáccamo, C. Churcher, C. Scott, J. Barrett, Romke Koch, Gerd-Jörg Rauch, S. White, W. Chow, Britt Kilian, Leonor T. Quintais, J. A. Guerra-Assunção, Yi Zhou, Yong Gu, J. Yen, J. Vogel, T. Eyre, S. Redmond, R. Banerjee, J. Chi, B. Fu, E. Langley, Sean F. Maguire, G. Laird, D. Lloyd, E. Kenyon, S. Donaldson, H. Sehra, J. Almeida-King, J. Loveland, S. Trevanion, Matt Jones, M. Quail, D. Willey, A. Hunt, J. Burton, S. Sims, K. McLay, Bob Plumb, Joy L. Davis, C. Clee, K. Oliver, R. Clark, C. Riddle, David Elliott, Glen Threadgold, G. Harden, D. Ware, Sharmin Begum, B. Mortimore, G. Kerry, P. Heath, B. Phillimore, A. Tracey, N. Corby, M. Dunn, Christopher N. Johnson, J. Wood, S. Clark, S. Pelan, G. Griffiths, Michelle Smith, R. Glithero, Philip Howden, Nicholas F. Barker, C. Lloyd, Christopher Stevens, J. Harley, K. Holt, G. Panagiotidis, J. Lovell, H. Beasley, C. Henderson, D. Gordon, Katherine Auger, Deborah Wright, Joanna Collins, C. Raisen, L. Dyer, Kenric Leung, Lauren Robertson, K. Ambridge, D. Leongamornlert, Sarah McGuire, Ruth Gilderthorp, C. Griffiths, Deepa Manthravadi, S. Nichol, G. Barker, S. Whitehead, M. Kay, Jacqueline Brown, Clare Murnane, Emma V. Gray, M. Humphries, N. Sycamore, Darren Barker, D. Saunders, J. Wallis, A. Babbage, S. Hammond, M. Mashreghi-mohammadi, Lucy Barr, Sancha Martin, P. Wray, A. Ellington, N. Matthews, M. Ellwood, Rebecca Woodmansey, G. Clark, James D. Cooper, A. Tromans, D. Grafham, C. Skuce, R. Pandian, R. Andrews, Elliot Harrison, A. Kimberley, J. Garnett, Nigel Fosker, R. Hall, P. Garner, Daniel Kelly, C. Bird, S. Palmer, Ines Gehring, A. Berger, Christopher M. Dooley, Zübeyde Ersan-Ürün, C. Eser, Horst Geiger, Maria Geisler, Lena Karotki, A. Kirn, Judith Konantz, M. Konantz, M. Oberländer, Silke Rudolph-Geiger, Mathias Teucke, C. Lanz, G. Raddatz, K. Osoegawa, B. Zhu, A. Rapp, S. Widaa, C. Langford, Fengtang Yang, S. Schuster, N. Carter, J. Harrow, Z. Ning, Javier Herrero, S. Searle, Anton J. Enright, R. Geisler, R. Plasterk, Charles Lee, M. Westerfield, P. Jong, L. Zon, J. Postlethwait, C. Nüsslein-Volhard, T. Hubbard, H. R. Crollius, J. Rogers, D. Stemple   +176 more
semanticscholar   +1 more source

Latent regulatory potential of human-specific repetitive elements [PDF]

, 2013
At least half of the human genome is derived from repetitive elements, which are often lineage specific and silenced by a variety of genetic and epigenetic mechanisms. Using a transchromosomic mouse strain that transmits an almost complete single copy of
Barbosa-Morais, Nuno L., Blencowe, Benjamin J., Flicek, Paul, Kirschner, Kristina, Kutter, Claudia, Lukk, Margus, Menon, Suraj, Odom, Duncan T., Pan, Qun, Schmidt, Dominic, Schwalie, Petra C., Stark, Rory, Thybert, David, Ward, Michelle C., Watt, Stephen, Wilson, Michael D.   +15 more
core   +1 more source

Plasmodium malariae and P. ovale genomes provide insights into malaria parasite evolution [PDF]

, 2017
Elucidation of the evolutionary history and interrelatedness of Plasmodium species that infect humans has been hampered by a lack of genetic information for three human-infective species: P. malariae and two P. ovale species (P. o. curtisi and P.
Amenga-Etego, Lucas, Anstey, Nicholas M, Apinjoh, Tobias O, Auburn, Sarah, Barnwell, John W, Berriman, Matthew, Böhme, Ulrike, Cotton, James A, Djimdé, Abdoulaye A, Kwiatkowski, Dominic P, Maiga-Ascofare, Oumou, Manske, Magnus, McCarthy, James S, Newbold, Chris I, Ollomo, Benjamin, Otto, Thomas D, Price, Ric N, Prugnolle, Franck, Reid, Adam J, Renaud, François, Rutledge, Gavin G, Sanders, Mandy   +21 more
core   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Nature Biotechnology, 2019
The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang, R. Hall, G. Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, A. Töpfer, Michael Alonge, M. Mahmoud, Yufeng Qian, C. Chin, A. Phillippy, M. Schatz, G. Myers, M. DePristo, Jue Ruan, T. Marschall, F. Sedlazeck, J. Zook, Heng Li, S. Koren, Andrew Carroll, D. Rank, M. Hunkapiller   +27 more
semanticscholar   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients

The Egyptian Heart Journal, 2022
Background Childhood dilated cardiomyopathy (CDCM) is the most common cardiomyopathy in children and it is risk factor to heart failure and sudden death.
Alaaeldin G. Fayez, Nora N. Esmaiel, Sohair M. Salem, Engy A. Ashaat, Sonia A. El-Saiedi, Mona O. El Ruby   +5 more
doaj   +1 more source

Origins of the Human Genome Project [PDF]

, 1994
Dr. Cook-Deegan recounts some of the scientific and political history leading to controversy about the proper mix of private and public roles in pursuing genome research and bringing its fruits to bear, e.g., in preventing and curing ...
Cook-Deegan, Robert Mullan
core   +1 more source

Cyclin D1-mediated microRNA expression signature predicts breast cancer outcome [PDF]

, 2018
Background: Genetic classification of breast cancer based on the coding mRNA suggests the evolution of distinct subtypes. Whether the non-coding genome is altered concordantly with the coding genome and the mechanism by which the cell cycle directly ...
Addya, Sankar, Casimiro, Mathew C., Deng, Shengqiong, DiSante, Gabriele, Dong, Lin, Ertel, Adam, Gormley, Michael, Ju, Xiaoming, Li, Qinchuan, Pestell, Richard G., Pestell, Timothy G., Qiao, Jing, Tozeren, Ayden, Wang, Guangxue, Wang, Min, Yu, Zuoren, Zhao, Qian   +16 more
core   +2 more sources