Results 91 to 100 of about 1,251,540 (276)

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source

Replicability analysis for genome-wide association studies

, 2014
The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine separately the results
Heller, Ruth, Yekutieli, Daniel
core   +1 more source

Guidelines for Genome-Wide Association Studies

PLoS Genetics, 2012
Genome-wide association studies (GWAS) have revolutionized human genetics. They have led to the identification of thousands of loci that affect both normal variation and susceptibility to disease, and have clarified our understanding of the genetic architecture of complex traits.
Gregory S Barsh, Gregory P Copenhaver, Greg Gibson, Scott M Williams   +3 more
openaire   +4 more sources

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

Genome-wide profiling of human cap-independent translation-enhancing elements. [PDF]

, 2013
We report an in vitro selection strategy to identify RNA sequences that mediate cap-independent initiation of translation. This method entails mRNA display of trillions of genomic fragments, selection for initiation of translation and high-throughput ...
Briones, Natalia, Chaput, John C, Jacobs, Bertram L, Kukurba, Kim, Kumar, Sudhir, Larsen, Andrew C, Liu, Li, Snyder, Michael, Stephens, Bret, Waern, Karl, Wellensiek, Brian P   +10 more
core  

Aggressive prostate cancer is associated with pericyte dysfunction

Molecular Oncology, EarlyView.
Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero, Ane Martinez‐Larrinaga, Joaquim Grego‐Bessa, Saioa Garcia‐Longarte, Hielke van Splunder, Ianire Astobiza, Amaia Ercilla, Laura Bozal‐Basterra, Isabel Mendizabal, Pilar Villacampa, Arkaitz Carracedo, Mariona Graupera   +11 more
wiley   +1 more source

Using Ontology Fingerprints to evaluate genome-wide association study results [PDF]

, 2009
We describe an approach to characterize genes or phenotypes via ontology fingerprints which are composed of Gene Ontology (GO) terms overrepresented among those PubMed abstracts linked to the genes or phenotypes. We then quantify the biological relevance
Lam C. Tsoi, Michael Boehnke, Richard L. Klein, W. Jim Zheng   +3 more
core   +1 more source

Genome wide conditional mouse knockout resources

Drug Discovery Today: Disease Models, 2016
The International Knockout Mouse Consortium (IKMC) developed high throughput gene trapping and gene targeting pipelines that produced mostly conditional mutations of more than 18,500 genes in C57BL/6N mouse embryonic stem (ES) cells which have been archived and are freely available to the research community as a frozen resource. From this unprecedented
Kaloff C, Anastassiadis K, Ayadi A, Baldock R, Beig J, Birling MC, Bradley A, Brown SDM, Burger A, Bushell W, Chiani F, Collins FS, Doe B, Eppig JT, Finnell RH, Fletcher C, Flicek P, Fray M, Friedel RH, Gambadoro A, Gates H, Hansen J, Herault Y, Hicks GG, Horlein A, Hrabe de Angelis M, Iyer V, de Jong PJ, Koscielny G, Kuhn R, Liu P, Lloyd KCK, Lopez RG, Marschall S, Martinez S, McKerlie C, Meehan T, von Melchner H, Moore M, Murray SA, Nagy A, Nutter LMJ, Pavlovic G, Pombero A, Prosser H, RamirezSolis R, Ringwald M, Rosen B, Rosenthal N, Rossant J, Ruiz Noppinger P, Ryder E, Skarnes WC, Schick J, Schnutgen F, Schofield P, Seisenberger C, Selloum M, Smedley D, Simpson EM, Stewart AF, Teboul L, Tocchini Valentini GP, Valenzuela D, West AP, Wurst W   +65 more
openaire   +7 more sources

Genome-Wide Epigenetic Modifications in Cancer [PDF]

, 2010
Epigenetic alterations in cancer include changes in DNA methylation and associated histone modifications that influence the chromatin states and impact gene expression patterns. Due to recent technological advantages, the scientific community is now obtaining a better picture of the genome-wide epigenetic changes that occur in a cancer genome.
Park, Yoon Jung, Claus, Rainer, Weichenhan, Dieter, Plass, Christoph   +3 more
openaire   +2 more sources

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source