Results 71 to 80 of about 10,781,581 (397)

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

Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry

Nature, 2008
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence of reference sequences for the human and ...
D. Bentley, S. Balasubramanian, H. Swerdlow, G. P. Smith, J. Milton, Clive Brown, K. Hall, D. Evers, Colin L. Barnes, Helen Bignell, J. M. Boutell, J. Bryant, Richard J. Carter, R. K. Cheetham, A. Cox, D. Ellis, Michael R. Flatbush, N. Gormley, S. Humphray, Leslie J. Irving, Mirian Karbelashvili, Scott M. Kirk, Heng Li, Xiaohai Liu, K. Maisinger, L. Murray, B. Obradovic, T. Ost, Michael L. Parkinson, Mark Pratt, I. Rasolonjatovo, M. Reed, R. Rigatti, C. Rodighiero, M. Ross, A. Sabot, S. Sankar, A. Scally, G. Schroth, Mark E. B. Smith, Vincent P. Smith, Anastassia Spiridou, Peta E. Torrance, Svilen Tzonev, Eric H. Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D. Alam, C. Anastasi, Ify C. Aniebo, D. M. Bailey, Iain Bancarz, Saibal Banerjee, Selena Barbour, P. Baybayan, Vincent Benoit, Kevin Benson, Claire Bevis, Phillip J. Black, Asha Boodhun, J. S. Brennan, J. Bridgham, Rob C. Brown, A. Brown, Dale H. Buermann, Abass A. Bundu, James C. Burrows, N. Carter, Nestor Castillo, M. C. E. Catenazzi, Simon Chang, R. Cooley, Natasha R. Crake, Olubunmi O. Dada, Konstantinos D. Diakoumakos, Belen Dominguez-Fernandez, D. Earnshaw, Ugonna C. Egbujor, Dave Elmore, S. Etchin, Mark Ewan, M. Fedurco, Louise J. Fraser, K. F. Fajardo, W. S. Furey, Dave George, Kimberley J. Gietzen, Colin P. Goddard, G. Golda, Philip A. Granieri, David E. Green, D. Gustafson, Nancy F. Hansen, K. Harnish, C. Haudenschild, Narinder I. Heyer, Matthew M. Hims, Johnny T. Ho, Adrian Horgan, Katya Hoschler, Steve Hurwitz, D. V. Ivanov, Maria Q. Johnson, Terena James, T. A. Jones, Gyoung-Dong Kang, Tzvetana H. Kerelska, A. Kersey, I. Khrebtukova, A. Kindwall, Z. Kingsbury, P. Kokko-Gonzales, Anil Kumar, M. Laurent, C. Lawley, Sarah E. Lee, X. Lee, A. Liao, Jennifer A. Loch, Mitch Lok, Shujun J Luo, Radhika M. Mammen, J. W. Martin, P. McCauley, P. McNitt, Parul Mehta, Keith Moon, Joe W. Mullens, T. Newington, Z. Ning, B. Ng, Sonia M. Novo, Michael J. O'neill, M. Osborne, A. Osnowski, Omead Ostadan, L. Paraschos, L. Pickering, Andrew C. Pike, A. Pike, D. Chris Pinkard, Daniel P. Pliskin, Joe Podhasky, Victor J. Quijano, C. Raczy, Vicki H. Rae, S. Rawlings, Ana Chiva Rodriguez, Phyllida Roe, J. Rogers, M. C. Rogert Bacigalupo, Nikolai Romanov, A. Romieu, Rithy K. Roth, Natalie J. Rourke, Silke T. Ruediger, E. Rusman, Raquel M. Sanches-Kuiper, M. Schenker, J. Seoane, Richard Shaw, Mitch Shiver, S. Short, N. Sizto, Johannes P. Sluis, M. A. Smith, J. S. Sohna, Eric Spence, K. Stevens, Neil W. Sutton, L. Szajkowski, C. Tregidgo, G. Turcatti, S. Vandevondele, Yuli Verhovsky, Selene M. Virk, S. Wakelin, Gregory Walcott, Jingwen Wang, G. Worsley, Juying Yan, L. Yau, Mike Zuerlein, J. Rogers, J. Mullikin, M. Hurles, N. J. McCooke, John S. West, F. Oaks, Peter L. Lundberg, D. Klenerman, R. Durbin, Anthony J. Smith   +193 more
semanticscholar   +1 more source

Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases

FEBS Letters, EarlyView.
The Kelch protein superfamily includes 63 members, with the KLHDC subfamily having 10 proteins. While their functions are not fully understood, recent advances in KLHDC2's structure and role in protein degradation have highlighted its potential for drug development, especially in PROTAC therapies.
Courtney Pilcher, Paula Armina V. Buco, Jia Q. Truong, Paul A. Ramsland, Monique F. Smeets, Carl R. Walkley, Jessica K. Holien   +6 more
wiley   +1 more source

Inferring selective constraint from population genomic data suggests recent regulatory turnover in the human brain [PDF]

, 2013
The comparative genomics revolution of the past decade has enabled the discovery of functional elements in the human genome via sequence comparison. While that is so, an important class of elements, those specific to humans, is entirely missed by searching for sequence conservation across species.
arxiv   +1 more source

1: To Know Ourselves [PDF]

, 1996
AT THE END OF THE ROAD in Little Cottonwood Canyon, near Salt Lake City, Alta is a place of near-mythic renown among skiers. In time it may well assume similar status among molecular geneticists.
The Human Genome Project, The U.S. Department of Energy   +1 more
core   +1 more source

Measuring microsatellite conservation in mammalian evolution with a phylogenetic birth-death model. [PDF]

, 2012
Microsatellites make up ∼3% of the human genome, and there is increasing evidence that some microsatellites can have important functions and can be conserved by selection.
Buschiazzo, Emmanuel, Gemmell, Neil, Lennon, Dustin, Minin, Vladimir N, Sawaya, Sterling M   +4 more
core   +1 more source

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

Science, 2014
Improving Whole-Genome Screens Improved methods are needed for the knockout of individual genes in genome-scale functional screens. Wang et al. (p. 80, published online 12 December) and Shalem et al. (p.
Ophir Shalem, Neville E. Sanjana, E. Hartenian, Xi Shi, David A. Scott, T. Mikkelsen, D. Heckl, B. Ebert, D. Root, John G Doench, Feng Zhang   +10 more
semanticscholar   +1 more source

The multiple roles of the NlpC_P60 peptidase family in mycobacteria – an underexplored target for antimicrobial drug discovery

FEBS Letters, EarlyView.
The NlpC_P60 superfamily of peptidases is recognised by its key role in bacterial cell wall homeostasis. Recently, studies have also described the involvement of NlpC_P60‐like enzymes in bacterial competitive mechanisms and pathogenesis across several lineages.
Catharina dos Santos Silva, Marcio Vinicius Bertacine Dias   +1 more
wiley   +1 more source

Dynamic disequilibrium-based pathogenicity model in mutated pyrin’s B30.2 domain—Casp1/p20 complex

Journal of Genetic Engineering and Biotechnology, 2022
Background The B30.2 variants lead to most relevant severity forms of familial Mediterranean fever (FMF) manifestations. The B30.2 domain plays a key role in protein-protein interaction (PPI) of pyrin with other apoptosis proteins and in regulation the ...
Alaaeldin G. Fayez, Ghada Nour Eldeen, Waheba A. Zarouk, Khaled Hamed, Abeer Ramadan, Bardees M. Foda, Maha M. Kobesiy, Mai E. Zekrie, Randa S. Lotfy, Mona F. Sokkar, Hala T. El-Bassyouni   +10 more
doaj   +1 more source

The drifting human genome [PDF]

Proceedings of the National Academy of Sciences, 2007
Around the time of the completion of the draft human genome sequence, biologists heatedly debated the number of genes contained in the human genome. In 2003, GeneSweep, an informal gene-count betting pool that began at the 2000 Cold Spring Harbor Laboratory Genome Meeting, announced Lee Rowen of the Institute of Systems Biology in Seattle to be the ...
openaire   +4 more sources