Results 71 to 80 of about 2,011,170 (298)

The impact of rare and low-frequency genetic variants in common disease

Genome Biology, 2017
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for.
Lorenzo Bomba, Klaudia Walter, Nicole Soranzo   +2 more
doaj   +1 more source

A high-resolution map of human evolutionary constraint using 29 mammals. [PDF]

, 2011
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes.
Alföldi, Jessica, Baldwin, Jen, Baylor College of Medicine Human Genome Sequencing Center Sequencing Team, Beal, Kathryn, Birney, Ewan, Bloom, Toby, Broad Institute Sequencing Platform and Whole Genome Assembly Team, Chang, Jean, Chin, Chee Whye, Clamp, Michele, Clawson, Hiram, Cree, Andrew, Cuff, James, Delehaunty, Kim, Di Palma, Federica, Dihn, Huyen H, Dooling, David, Ernst, Jason, Fitzgerald, Stephen, Flicek, Paul, Fowler, Gerald, Fronik, Catrina, Fulton, Bob, Fulton, Lucinda, Garber, Manuel, Genome Institute at Washington University, Gibbs, Richard A, Gnerre, Sante, Goldman, Nick, Graves, Tina, Green, Eric D, Guttman, Mitchell, Haussler, David, Heiman, Dave, Herrero, Javier, Holloway, Alisha K, Hubisz, Melissa J, Jaffe, David B, Jhangiani, Shalili, Jordan, Gregory, Joshi, Vandita, Jungreis, Irwin, Kellis, Manolis, Kent, W James, Kheradpour, Pouya, Kostka, Dennis, Kovar, Christie L, Lander, Eric S, Lara, Marcia, Lee, Sandra, Lewis, Lora R, Lin, Michael F, Lindblad-Toh, Kerstin, Lowe, Craig B, Mardis, Elaine R, Margulies, Elliott H, Martins, Andre L, Massingham, Tim, Mauceli, Evan, Minx, Patrick, Moltke, Ida, Muzny, Donna M, Nazareth, Lynne V, Nicol, Robert, Nusbaum, Chad, Okwuonu, Geoffrey, Parker, Brian J, Pedersen, Jakob S, Pollard, Katherine S, Raney, Brian J, Rasmussen, Matthew D, Robinson, Jim, Santibanez, Jireh, Siepel, Adam, Sodergren, Erica, Stark, Alexander, Vilella, Albert J, Ward, Lucas D, Warren, Wesley C, Washietl, Stefan, Weinstock, George M, Wen, Jiayu, Wilkinson, Jane, Wilson, Richard K, Worley, Kim C, Xie, Xiaohui, Young, Sarah, Zody, Michael C, Zuk, Or   +88 more
core   +1 more source

Use of whole-genus genome sequence data to develop a multilocus sequence typing tool that accurately identifies Yersinia isolates to the species and subspecies levels [PDF]

, 2015
The genus Yersinia is a large and diverse bacterial genus consisting of human-pathogenic species, a fish-pathogenic species, and a large number of environmental species.
Carniel, Elisabeth, Chattaway, Marie A., Connor, Thomas Richard, Hall, Miquette, Jenkins, Claire, Ledeboer, N. A., McNally, Alan, Rajakaruna, Lakshani, Rajendram, Dunstan, Reuter, Sandra, Savin, Cyril, Strauch, Eckhard, Thomson, Nicholas R., Van Damme, Inge   +13 more
core   +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

Draft Genome Sequence of the Serratia rubidaea CIP 103234T Reference Strain, a Human-Opportunistic Pathogen. [PDF]

, 2015
We provide here the first genome sequence of a Serratia rubidaea isolate, a human-opportunistic pathogen.
Bonnin, RA, Dortet, L, Girlich, D, Imanci, D, Naas, T   +4 more
core   +1 more source

Vacuolar transport and function of Saccharomyces cerevisiae sterol ester hydrolase Tgl1

FEBS Letters, EarlyView.
Tgl1, one of yeast sterol ester hydrolases, had been found on the lipid droplets where sterol esters are mainly stored. This study revealed that Tgl1 is transported into the vacuole depending on the ESCRT‐I–III complex, and that it exhibits intra‐vacuolar sterol ester hydrolase activity.
Takumi Nakatsuji, Kosuke Shiraishi, Chuqian Wang, Hiroya Yurimoto, Yasuyoshi Sakai, Masahide Oku   +5 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 role of fibroblast growth factors in cell and cancer metabolism

FEBS Letters, EarlyView.
Fibroblast growth factor (FGF) signaling regulates crucial signaling cascades that promote cell proliferation, survival, and metabolism. Therefore, FGFs and their receptors are often dysregulated in human diseases, including cancer, to sustain proliferation and rewire metabolism.
Jessica Price, Chiara Francavilla
wiley   +1 more source

Unconventional machine learning of genome-wide human cancer data

, 2020
Recent advances in high-throughput genomic technologies coupled with exponential increases in computer processing and memory have allowed us to interrogate the complex aberrant molecular underpinnings of human disease from a genome-wide perspective ...
Bajaj, Sweta R., Chittenden, Thomas W., Cilfone, Nicholas, Gamel, Omar E., Gujja, Sharvari, Gulcher, Jeffrey R., Li, Richard Y., Lidar, Daniel A.   +7 more
core   +1 more source

Pathways and Mechanisms that Prevent Genome Instability in Saccharomyces cerevisiae. [PDF]

, 2017
Genome rearrangements result in mutations that underlie many human diseases, and ongoing genome instability likely contributes to the development of many cancers.
Kolodner, Richard D, Putnam, Christopher D   +1 more
core   +1 more source