Browsing Harvard Medical School by Title

Now showing items 7303-7322 of 18428

    • Genomic landscape of pediatric adrenocortical tumors 

      Pinto, Emilia M.; Chen, Xiang; Easton, John; Finkelstein, David; Liu, Zhifa; Pounds, Stanley; Rodriguez-Galindo, Carlos; Lund, Troy C.; Mardis, Elaine R.; Wilson, Richard K.; Boggs, Kristy; Yergeau, Donald; Cheng, Jinjun; Mulder, Heather L.; Manne, Jayanthi; Jenkins, Jesse; Mastellaro, Maria J.; Figueiredo, Bonald C.; Dyer, Michael A.; Pappo, Alberto; Zhang, Jinghui; Downing, James R.; Ribeiro, Raul C.; Zambetti, Gerard P. (2015)
      Pediatric adrenocortical carcinoma is a rare malignancy with poor prognosis. Here we analyze 37 adrenocortical tumors (ACTs) by whole genome, whole exome and/or transcriptome sequencing. Most cases (91%) show loss of ...

    • The Genomic Landscape of Prostate Cancer 

      Baca, Sylvan Charles; Garraway, Levi Alexander (Frontiers Research Foundation, 2012)
      Prostate cancer is a common malignancy in men, with a markedly variable clinical course. Somatic alterations in DNA drive the growth of prostate cancers and may underlie the behavior of aggressive versus indolent tumors. ...

    • Genomic mapping of RNA polymerase II reveals sites of co-transcriptional regulation in human cells 

      Brodsky, Alexander S; Meyer, Clifford; Swinburne, Ian A; Hall, Giles; Keenan, Benjamin J; Liu, Xiaole Shirley; Fox, Edward Alvin; Silver, Pamela A. (BioMed Central, 2005)
      Background: Transcription by RNA polymerase II is regulated at many steps including initiation, promoter release, elongation and termination. Accumulation of RNA polymerase II at particular locations across genes can be ...

    • Genomic Organization and Single-Nucleotide Polymorphism Map of Desmuslin, a Novel Intermediate Filament Protein on Chromosome 15q26.3 

      Mizuno, Yuji; Puca, Annibale A; O'Brien, Kristine F; Beggs, Alan Hendrie; Kunkel, Louis Martens (BioMed Central, 2001)
      Background: Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...

    • Genomic prediction of coronary heart disease 

      Abraham, Gad; Havulinna, Aki S.; Bhalala, Oneil G.; Byars, Sean G.; De Livera, Alysha M.; Yetukuri, Laxman; Tikkanen, Emmi; Perola, Markus; Schunkert, Heribert; Sijbrands, Eric J.; Palotie, Aarno; Samani, Nilesh J.; Salomaa, Veikko; Ripatti, Samuli; Inouye, Michael (Oxford University Press, 2016)
      Aims Genetics plays an important role in coronary heart disease (CHD) but the clinical utility of genomic risk scores (GRSs) relative to clinical risk scores, such as the Framingham Risk Score (FRS), is unclear. Our aim ...

    • Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency 

      Das, Anirban; Sudhaman, Sumedha; Morgenstern, Daniel; Coblentz, Ailish; Chung, Jiil; Stone, Simone C.; Alsafwani, Noor; Liu, Zhihui Amy; Karsaneh, Ola Abu Al; Soleimani, Shirin; Ladany, Hagay; Chen, David; Zatzman, Matthew; Cabric, Vanja; Nobre, Liana; Bianchi, Vanessa; Edwards, Melissa; Sambira Nahum, Lauren C,; Ercan, Ayse B.; Nabbi, Arash; Constantini, Shlomi; Dvir, Rina; Yalon-Oren, Michal; Campino, Gadi Abebe; Caspi, Shani; Larouche, Valerie; Reddy, Alyssa; Osborn, Michael; Mason, Gary; Lindhorst, Scott; Bronsema, Annika; Magimairajan, Vanan; Opocher, Enrico; De Mola, Rebecca Loret; Sabel, Magnus; Frojd, Charlotta; Sumerauer, David; Samuel, David; Cole, Kristina; Chiaravalli, Stefano; Massimino, Maura; Tomboc, Patrick; Ziegler, David S.; George, Ben; Van Damme, An; Hijiya, Nobuko; Gass, David; McGee, Rose B.; Mordechai, Oz; Bowers, Daniel C.; Laetsch, Theodore W.; Lossos, Alexander; Blumenthal, Deborah T.; Sarosiek, Tomasz; Yen, Lee Yi; Knipstein, Jeffrey; Bendel, Anne; Hoffman, Lindsey M.; Luna-Fineman, Sandra; Zimmermann, Stefanie; Scheers, Isabelle; Nichols, Kim E.; Zapotocky, Michal; Hansford, Jordan R.; Maris, John M.; Dirks, Peter; Taylor, Michael D.; Kulkarni, Abhaya V.; Shroff, Manohar; Tsang, Derek S.; Villani, Anita; Xu, Wei; Aronson, Melyssa; Durno, Carol; Shlien, Adam; Malkin, David; Getz, Gad; Maruvka, Yosef E.; Ohashi, Pamela S.; Hawkins, Cynthia; Pugh, Trevor J.; Bouffet, Eric; Tabori, Uri (Springer Science and Business Media LLC, 2022-01)
      Cancers arising from germline DNA mismatch-repair or polymerase-proofreading deficiencies (MMRD and PPD) in children harbour the highest mutational and microsatellite insertion/deletion (MS-indel) burden in humans. MMRD/PPD ...

    • Genomic Presence of Recombinant Porcine Endogenous Retrovirus in Transmitting Miniature Swine 

      Martin, Stanley I; Wilkinson, Robert; Fishman, Jay Alan (Springer Nature, 2006)
      The replication of porcine endogenous retrovirus (PERV) in human cell lines suggests a potential infectious risk in xenotransplantation. PERV isolated from human cells following cocultivation with porcine peripheral blood ...

    • Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas 

      Engler, David A; Roy, Jennifer; Shen, Yiping; Nunes, Fabio Pereira; Stemmer-Rachamimov, Anat; James, Marianne F.; Mohapatra, Gayatry; Plotkin, Scott Randall; Betensky, Rebecca Aubrey; Ramesh, Vijaya; Gusella, James Francis (BioMed Central, 2009)
      Background: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with ...

    • Genomic Screening in Family-Based Association Testing 

      Murphy, Amy; McQueen, Matthew B; Su, Jessica Ann Lasky; Kraft, Peter; Lazarus, Ross; Laird, Nan M.; Lange, Christoph; Van Steen, Kristel (BioMed Central, 2005)
      Due to the recent gains in the availability of single-nucleotide polymorphism data, genome-wide association testing has become feasible. It is hoped that this additional data may confirm the presence of disease susceptibility ...

    • Genomic Screening with RNAi: Results and Challenges 

      Mohr, Stephanie; Bakal, Chris; Perrimon, Norbert (Annual Reviews, 2010)
      RNA interference (RNAi) is an effective tool for genome-scale, high-throughput analysis of gene function. In the past five years, a number of genome-scale RNAi high-throughput screens (HTSs) have been done in both Drosophila ...

    • Genomic Sequencing 

      Church, George; Gilbert, Walter (National Academy of Sciences, 1984-04-01)
      Unique DNA sequences can be determined directly from mouse genomic DNA. A denaturing gel separates by size mixtures of unlabeled DNA fragments from complete restriction and partial chemical cleavages of the entire genome. ...

    • Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations 

      Brastianos, Priscilla K.; Horowitz, Peleg M.; Santagata, Sandro; Jones, Robert T.; McKenna, Aaron; Getz, Gad; Ligon, Keith L.; Palescandolo, Emanuele; Van Hummelen, Paul; Ducar, Matthew D.; Raza, Alina; Sunkavalli, Ashwini; MacConaill, Laura E.; Stemmer-Rachamimov, Anat O.; Louis, David N.; Hahn, William C.; Dunn, Ian F.; Beroukhim, Rameen (2013)
      Meningiomas are the most common primary nervous system tumor. The tumor suppressor NF2 is disrupted in approximately half of meningiomas1 but the complete spectrum of genetic changes remains undefined. We performed ...

    • Genomic Signatures Characterize Leukocyte Infiltration in Myositis Muscles 

      Zhu, Wei; Streicher, Katie; Shen, Nan; Higgs, Brandon W; Morehouse, Chris; Greenlees, Lydia; Amato, Anthony A.; Ranade, Koustubh; Richman, Laura; Fiorentino, David; Jallal, Bahija; Greenberg, Steven A.; Yao, Yihong (BioMed Central, 2012)
      Background: Leukocyte infiltration plays an important role in the pathogenesis and progression of myositis, and is highly associated with disease severity. Currently, there is a lack of: efficacious therapies for myositis; ...

    • A Genomic Storm in Critically Injured Humans 

      Mindrinos, Michael N.; Seok, Junhee; Cuschieri, Joseph; Cuenca, Alex G.; Hayden, Douglas L.; Hennessy, Laura; Moore, Ernest E.; Minei, Joseph P.; Bankey, Paul E.; Sperry, Jason; Nathens, Avery B.; Billiar, Timothy R.; Brownstein, Bernard H.; Mason, Philip H.; Baker, Henry V.; Finnerty, Celeste C.; Jeschke, Marc G.; López, M. Cecilia; Klein, Matthew B.; Gamelli, Richard L.; Gibran, Nicole S.; Arnoldo, Brett; Xu, Weihong; Zhang, Yuping; Calvano, Steven E.; McDonald-Smith, Grace P.; Storey, John D.; Moldawer, Lyle L.; Herndon, David N.; Lowry, Stephen F.; Maier, Ronald V.; Davis, Ronald W.; Xiao, Wenzhong; Gao, Hong; Johnson, Jeffrey L.; West, Michael A.; Schoenfeld, David Alan; Cobb, Joseph Perren; Warren, H. Shaw; Tompkins, Ronald Gary (The Rockefeller University Press, 2011)
      Human survival from injury requires an appropriate inflammatory and immune response. We describe the circulating leukocyte transcriptome after severe trauma and burn injury, as well as in healthy subjects receiving low-dose ...

    • Genomic Studies with Escherichia coli MelR Protein: Applications of Chromatin Immunoprecipitation and Microarrays 

      Grainger, DC; Overton, TW; Reppas, N; Wade, JT; Tamai, E; Hobman, JL; Constantinidou, C; Struhl, Kevin; Church, George; Busby, SJW (American Society for Microbiology, 2004)
      Escherichia coli MelR protein is a transcription activator that is essential for melibiose-dependent expression of the melAB genes. We have used chromatin immunoprecipitation to study the binding of MelR and RNA polymerase ...

    • The genomic substrate for adaptive radiation in African cichlid fish 

      Brawand, David; Wagner, Catherine E.; Li, Yang I.; Malinsky, Milan; Keller, Irene; Fan, Shaohua; Simakov, Oleg; Ng, Alvin Y.; Lim, Zhi Wei; Bezault, Etienne; Turner-Maier, Jason; Johnson, Jeremy; Alcazar, Rosa; Noh, Hyun Ji; Russell, Pamela; Aken, Bronwen; Alföldi, Jessica; Amemiya, Chris; Azzouzi, Naoual; Baroiller, Jean-François; Barloy-Hubler, Frederique; Berlin, Aaron; Bloomquist, Ryan; Carleton, Karen L.; Conte, Matthew A.; D'Cotta, Helena; Eshel, Orly; Gaffney, Leslie; Galibert, Francis; Gante, Hugo F.; Gnerre, Sante; Greuter, Lucie; Guyon, Richard; Haddad, Natalie S.; Haerty, Wilfried; Harris, Rayna M.; Hofmann, Hans A.; Hourlier, Thibaut; Hulata, Gideon; Jaffe, David B.; Lara, Marcia; Lee, Alison P.; MacCallum, Iain; Mwaiko, Salome; Nikaido, Masato; Nishihara, Hidenori; Ozouf-Costaz, Catherine; Penman, David J.; Przybylski, Dariusz; Rakotomanga, Michaelle; Renn, Suzy C. P.; Ribeiro, Filipe J.; Ron, Micha; Salzburger, Walter; Sanchez-Pulido, Luis; Santos, M. Emilia; Searle, Steve; Sharpe, Ted; Swofford, Ross; Tan, Frederick J.; Williams, Louise; Young, Sarah; Yin, Shuangye; Okada, Norihiro; Kocher, Thomas D.; Miska, Eric A.; Lander, Eric S.; Venkatesh, Byrappa; Fernald, Russell D.; Meyer, Axel; Ponting, Chris P.; Streelman, J. Todd; Lindblad-Toh, Kerstin; Seehausen, Ole; Di Palma, Federica (2014)
      Cichlid fishes are famous for large, diverse and replicated adaptive radiations in the Great Lakes of East Africa. To understand the molecular mechanisms underlying cichlid phenotypic diversity, we sequenced the genomes ...

    • Genomic testing to determine drug response: measuring preferences of the public and patients using Discrete Choice Experiment (DCE) 

      Najafzadeh, Mehdi; Johnston, Karissa M; Peacock, Stuart J; Connors, Joseph M; Marra, Marco A; Lynd, Larry D; Marra, Carlo A (BioMed Central, 2013)
      Background: The extent to which a genomic test will be used in practice is affected by factors such as ability of the test to correctly predict response to treatment (i.e. sensitivity and specificity of the test), invasiveness ...

    • Genomic transition of enterococci from gut commensals to leading causes of multidrug-resistant hospital infection in the antibiotic era 

      Gilmore, Michael S.; Lebreton, Francois Herve; van Schaik, Willem (Elsevier BV, 2013)
      The enterococci evolved over eons as highly adapted members of gastrointestinal consortia of a wide variety of hosts, but for reasons that are not entirely clear, emerged in the 1970s as leading causes of multidrug resistant ...

    • Genomic variation landscape of the human gut microbiome 

      Schloissnig, Siegfried; Arumugam, Manimozhiyan; Sunagawa, Shinichi; Mitreva, Makedonka; Tap, Julien; Zhu, Ana; Waller, Alison; Mende, Daniel R.; Kultima, Jens Roat; Martin, John; Kota, Karthik; Sunyaev, Shamil R.; Weinstock, George M.; Bork, Peer (2012)
      While large-scale efforts have rapidly advanced the understanding and practical impact of human genomic variation, the latter is largely unexplored in the human microbiome. We therefore developed a framework for metagenomic ...

    • Genomically Informed Surveillance for Carbapenem-Resistant Enterobacteriaceae in a Health Care System 

      Pecora, Nicole D.; Li, Ning; Allard, Marc; Li, Cong; Albano, Esperanza; Delaney, Mary; Dubois, Andrea; Onderdonk, Andrew B.; Bry, Lynn (American Society of Microbiology, 2015)
      ABSTRACT Carbapenem-resistant Enterobacteriaceae (CRE) are an urgent public health concern. Rapid identification of the resistance genes, their mobilization capacity, and strains carrying them is essential to direct hospital ...