Results 61 to 70 of about 2,058,071 (297)

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

PARP inhibition and pharmacological ascorbate demonstrate synergy in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Pharmacologic ascorbate (vitamin C) increases ROS, disrupts cellular metabolism, and induces DNA damage in CRPC cells. These effects sensitize tumors to PARP inhibition, producing synergistic growth suppression with olaparib in vitro and significantly delayed tumor progression in vivo. Pyruvate rescue confirms ROS‐dependent activity.
Nicolas Gordon, Peter T. Gallagher, Orly I. Richter, Neermala Poudel Neupane, Amy C. Mandigo, Jennifer J. McCann, Emanuela Dylgjeri, Irina Vasilevskaya, Christopher McNair, Channing J. Paller, Wm. Kevin Kelly, Karen E. Knudsen, Matthew J. Schiewer, Ayesha A. Shafi   +13 more
wiley   +1 more source

Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

Genome Biology, 2020
Recent long-read assemblies often exceed the quality and completeness of available reference genomes, making validation challenging. Here we present Merqury, a novel tool for reference-free assembly evaluation based on efficient k-mer set operations.
Arang Rhie, Brian P. Walenz, Sergey Koren, Adam M. Phillippy   +3 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

Plecstatin inhibits hepatocellular carcinoma tumorigenesis and invasion through cytolinker plectin

Molecular Oncology, EarlyView.
The ruthenium‐based metallodrug plecstatin exerts its anticancer effect in hepatocellular carcinoma (HCC) primarily through selective targeting of plectin. By disrupting plectin‐mediated cytoskeletal organization, plecstatin inhibits anchorage‐dependent growth, cell polarization, and tumor cell dissemination.
Zuzana Outla, Jan Kosla, Magdalena Prechova, Lukas Frick, Patricia Bortel, Yasmin Borutzki, Andrea Bileck, Christopher Gerner, Samuel M. Meier‐Menches, Selma Osmanagic‐Myers, Martin Gregor   +10 more
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

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source

Human Adipose-Derived Mesenchymal Stromal Cells Injected Systemically into GRMD Dogs without Immunosuppression are Able to Reach the Host Muscle and Express Human Dystrophin

Cell Transplantation, 2012
Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is the most common and severe form of muscular dystrophies, affecting 1 in 3,500 male births. Mutations in the DMD gene lead to the absence of muscle dystrophin and a progressive degeneration
N. M. Vieira, M. Valadares, E. Zucconi, M. Secco, C. R. Bueno Junior, V. Brandalise, A. Assoni, J. Gomes, V. Landini, T. Andrade, H. V. A. Caetano, M. Vainzof, M. Zatz   +12 more
doaj   +1 more source

Statistical analysis of simple repeats in the human genome

, 2005
The human genome contains repetitive DNA at different level of sequence length, number and dispersion. Highly repetitive DNA is particularly rich in homo-- and di--nucleotide repeats, while middle repetitive DNA is rich of families of interspersed ...
Batzer, Bhattacharyya, Bois, Brukner, Chingfer, Coté, Deepali, Deininger, Deininger, Dermitazakis, Dieringer, Englander, Eyre-Walker, Force, Fransz, Fryxell, Glusman, Han, Herzel, Holste, Iyer, Johanning, Kazazian, Lai, Li, Lillo, Lio, Lynch, Lynch, Lynch, Mantegna, Nelson, Roy-Engel, Scott, Umar, Wagner, Wagner, Wassermann, Weiner   +38 more
core   +1 more source