Browsing HMS Scholarly Articles by Title

Now showing items 747-766 of 17922

    • Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants 

      Fu, Wenqing; O'Connor, Timothy D.; Jun, Goo; Kang, Hyun Min; Abecasis, Goncalo; Leal, Suzanne M.; Gabriel, Stacey; Altshuler, David; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; GO, Broad; GO, Seattle; Akey, Joshua M. (2012)
      Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history1,2 and will help facilitate the development of new approaches for disease gene ...

    • Analysis of a Mouse Skin Model of Tuberous Sclerosis Complex 

      Guo, Yanan; Dreier, John R.; Cao, Juxiang; Du, Heng; Granter, Scott R.; Kwiatkowski, David J. (Public Library of Science, 2016)
      Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, ...

    • Analysis of AKT and ERK1/2 protein kinases in extracellular vesicles isolated from blood of patients with cancer 

      van der Mijn, Johannes C.; Sol, Nik; Mellema, Wouter; Jimenez, Connie R.; Piersma, Sander R.; Dekker, Henk; Schutte, Lisette M.; Smit, Egbert F.; Broxterman, Henk J.; Skog, Johan; Tannous, Bakhos A.; Wurdinger, Thomas; Verheul, Henk M. W. (Co-Action Publishing, 2014)
      Background: Extracellular vesicles (EVs) are small nanometre-sized vesicles that are circulating in blood. They are released by multiple cells, including tumour cells. We hypothesized that circulating EVs contain protein ...

    • Analysis of Apoptosis Methods Recently Used in Cancer Research and Cell Death & Disease Publications 

      Bucur, Octavian; Stancu, A. L.; Khosravi-Far, Roya; Almasan, A. (Nature Publishing Group, 2012)

    • Analysis of cancer genomes reveals basic features of human aging and its role in cancer development 

      Podolskiy, Dmitriy I.; Lobanov, Alexei V.; Kryukov, Gregory V.; Gladyshev, Vadim N. (Nature Publishing Group, 2016)
      Somatic mutations have long been implicated in aging and disease, but their impact on fitness and function is difficult to assess. Here by analysing human cancer genomes we identify mutational patterns associated with ...

    • Analysis of Chimpanzee History Based on Genome Sequence Alignments 

      Caswell, Jennifer L.; Mallick, Swapan; Richter, Daniel J.; Neubauer, Julie; Schirmer, Christine; Gnerre, Sante; Reich, David Emil (Public Library of Science, 2008)
      Population geneticists often study small numbers of carefully chosen loci, but it has become possible to obtain orders of magnitude for more data from overlaps of genome sequences. Here, we generate tens of millions of ...

    • Analysis of Criteria for MRI Diagnosis of TMJ Disc Displacement and Arthralgia 

      Shaefer, Jeffry Rowland; Riley, Cara Joy; Caruso, Paul Albert; Keith, David Alexander (Hindawi Publishing Corporation, 2012)
      Aims. To improve diagnostic criteria for TMJ disc displacement (DD). Methods:. The standard protocol for MRI diagnosis of DD, using a 12 o'clock reference position, was compared to an alternative protocol. The alternative ...

    • Analysis of Embryoid Bodies Derived from Human Induced Pluripotent Stem Cells as a Means to Assess Pluripotency 

      Sheridan, Steven D.; Surampudi, Vasudha; Rao, Rajesh Raghavendran (Hindawi Publishing Corporation, 2012)
      Human induced pluripotent stem cells (hiPSCs) have core properties of unlimited self-renewal and differentiation potential and have emerged as exciting cell sources for applications in regenerative medicine, drug discovery, ...

    • Analysis of Errors Reported By Surgeons at Three Teaching Hospitals 

      Gawande, Atul; Zinner, Michael J.; Studdert, David M.; Brennan, Troyen A. (2003)

    • Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia 

      Rees, E; Kirov, G; Walters, J T; Richards, A L; Howrigan, D; Kavanagh, D H; Pocklington, A J; Fromer, M; Ruderfer, D M; Georgieva, L; Carrera, N; Gormley, P; Palta, P; Williams, H; Dwyer, S; Johnson, J S; Roussos, P; Barker, D D; Banks, E; Milanova, V; Rose, S A; Chambert, K; Mahajan, M; Scolnick, E M; Moran, J L; Tsuang, M T; Glatt, S J; Chen, W J; Hwu, H-G; Faraone, Stephen V; Roe, Cheri A; Chandler, Sharon D; Liu, Chih-Min; Liu, Chen-Chung; Yeh, Ling-Ling; Ouyang, Wen-Chen; Chan, Hung-Yu; Chen, Chun-Ying; Neale, B M; Palotie, A; Sklar, P; Purcell, S M; McCarroll, S A; Holmans, P; Owen, M J; O'Donovan, M C (Nature Publishing Group, 2015)
      Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing ...

    • Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci 

      Ellinghaus, David; Jostins, Luke; Spain, Sarah L; Cortes, Adrian; Bethune, Jörn; Han, Buhm; Park, Yu Rang; Raychaudhuri, Soumya; Pouget, Jennie G; Hübenthal, Matthias; Folseraas, Trine; Wang, Yunpeng; Esko, Tonu; Metspalu, Andres; Westra, Harm-Jan; Franke, Lude; Pers, Tune H; Weersma, Rinse K; Collij, Valerie; D'Amato, Mauro; Halfvarson, Jonas; Jensen, Anders Boeck; Lieb, Wolfgang; Degenhardt, Franziska; Forstner, Andreas J; Hofmann, Andrea; Schreiber, Stefan; Mrowietz, Ulrich; Juran, Brian D; Lazaridis, Konstantinos N; Brunak, Søren; Dale, Anders M; Trembath, Richard C; Weidinger, Stephan; Weichenthal, Michael; Ellinghaus, Eva; Elder, James T; Barker, Jonathan NWN; Andreassen, Ole A; McGovern, Dermot P; Karlsen, Tom H; Barrett, Jeffrey C; Parkes, Miles; Brown, Matthew A; Franke, Andre (2016)
      We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these ...

    • Analysis of Gene Expression in a Developmental Context Emphasizes Distinct Biological Leitmotifs in Human Cancers 

      Naxerova, Kamila; Bult, Carol J; Peaston, Anne; Fancher, Karen; Knowles, Barbara B; Kasif, Simon; Kohane, Isaac Samuel (BioMed Central, 2008)
      A systematic analysis of the relationship between the neoplastic and developmental transcriptome provides an outline of global trends in cancer gene expression.

    • Analysis of genetic systems using experimental evolution and whole-genome sequencing 

      Hegreness, Matthew; Kishony, Roy (BioMed Central, 2007)
      The application of whole-genome sequencing to the study of microbial evolution promises to reveal the complex functional networks of mutations that underlie adaptation. A recent study of parallel evolution in populations ...

    • Analysis of growth factor signaling in genetically diverse breast cancer lines 

      Niepel, Mario; Hafner, Marc; Pace, Emily A; Chung, Mirra; Chai, Diana H; Zhou, Lili; Muhlich, Jeremy L; Schoeberl, Birgit; Sorger, Peter K (BioMed Central, 2014)
      Background: Soluble growth factors present in the microenvironment play a major role in tumor development, invasion, metastasis, and responsiveness to targeted therapies. While the biochemistry of growth factor-dependent ...

    • Analysis of HIV Diversity in HIV-Infected Black Men Who Have Sex with Men (HPTN 061) 

      Chen, Iris; Chau, Gordon; Wang, Jing; Clarke, William; Marzinke, Mark A.; Cummings, Vanessa; Breaud, Autumn; Laeyendecker, Oliver; Fields, Sheldon D.; Griffith, Sam; Scott, Hyman M.; Shoptaw, Steven; del Rio, Carlos; Magnus, Manya; Mannheimer, Sharon; Tieu, Hong-Van; Wheeler, Darrell P.; Mayer, Kenneth H.; Koblin, Beryl A.; Eshleman, Susan H. (Public Library of Science, 2016)
      Background: HIV populations often diversify in response to selective pressures, such as the immune response and antiretroviral drug use. We analyzed HIV diversity in Black men who have sex with men who were enrolled in the ...

    • Analysis of hospital traffic and search engine data in Wuhan China indicates early disease activity in the Fall of 2019 

      Nsoesie, Elaine Okanyene; Rader, Benjamin; Barnoon, Yiyao L.; Goodwin, Lauren; Brownstein, John
      The global COVID-19 pandemic was originally linked to a zoonotic spillover event in Wuhan’s Huanan Seafood Market in November or December of 2019. However, recent evidence suggests that the virus may have already been ...

    • Analysis of Human Sarcospan as a Candidate Gene for CFEOM1 

      O'Brien, Kristine F; Engle, Elizabeth Carson; Kunkel, Louis Martens (BioMed Central, 2001)
      Background: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrophin ...

    • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis 

      Beecham, Ashley H; Patsopoulos, Nikolaos A; Xifara, Dionysia K; Davis, Mary F; Kemppinen, Anu; Cotsapas, Chris; Shahi, Tejas S; Spencer, Chris; Booth, David; Goris, An; Oturai, Annette; Saarela, Janna; Fontaine, Bertrand; Hemmer, Bernhard; Martin, Claes; Zipp, Frauke; D’alfonso, Sandra; Martinelli-Boneschi, Filippo; Taylor, Bruce; Harbo, Hanne F; Kockum, Ingrid; Hillert, Jan; Olsson, Tomas; Ban, Maria; Oksenberg, Jorge R; Hintzen, Rogier; Barcellos, Lisa F; Agliardi, Cristina; Alfredsson, Lars; Alizadeh, Mehdi; Anderson, Carl; Andrews, Robert; Søndergaard, Helle Bach; Baker, Amie; Band, Gavin; Baranzini, Sergio E; Barizzone, Nadia; Barrett, Jeffrey; Bellenguez, Céline; Bergamaschi, Laura; Bernardinelli, Luisa; Berthele, Achim; Biberacher, Viola; Binder, Thomas M C; Blackburn, Hannah; Bomfim, Izaura L; Brambilla, Paola; Broadley, Simon; Brochet, Bruno; Brundin, Lou; Buck, Dorothea; Butzkueven, Helmut; Caillier, Stacy J; Camu, William; Carpentier, Wassila; Cavalla, Paola; Celius, Elisabeth G; Coman, Irène; Comi, Giancarlo; Corrado, Lucia; Cosemans, Leentje; Cournu-Rebeix, Isabelle; Cree, Bruce A C; Cusi, Daniele; Damotte, Vincent; Defer, Gilles; Delgado, Silvia R; Deloukas, Panos; di Sapio, Alessia; Dilthey, Alexander T; Donnelly, Peter; Dubois, Bénédicte; Duddy, Martin; Edkins, Sarah; Elovaara, Irina; Esposito, Federica; Evangelou, Nikos; Fiddes, Barnaby; Field, Judith; Franke, Andre; Freeman, Colin; Frohlich, Irene Y; Galimberti, Daniela; Gieger, Christian; Gourraud, Pierre-Antoine; Graetz, Christiane; Graham, Andrew; Grummel, Verena; Guaschino, Clara; Hadjixenofontos, Athena; Hakonarson, Hakon; Halfpenny, Christopher; Hall, Gillian; Hall, Per; Hamsten, Anders; Harley, James; Harrower, Timothy; Hawkins, Clive; Hellenthal, Garrett; Hillier, Charles; Hobart, Jeremy; Hoshi, Muni; Hunt, Sarah E; Jagodic, Maja; Jelčić, Ilijas; Jochim, Angela; Kendall, Brian; Kermode, Allan; Kilpatrick, Trevor; Koivisto, Keijo; Konidari, Ioanna; Korn, Thomas; Kronsbein, Helena; Langford, Cordelia; Larsson, Malin; Lathrop, Mark; Lebrun-Frenay, Christine; Lechner-Scott, Jeannette; Lee, Michelle H; Leone, Maurizio A; Leppä, Virpi; Liberatore, Giuseppe; Lie, Benedicte A; Lill, Christina M; Lindén, Magdalena; Link, Jenny; Luessi, Felix; Lycke, Jan; Macciardi, Fabio; Männistö, Satu; Manrique, Clara P; Martin, Roland; Martinelli, Vittorio; Mason, Deborah; Mazibrada, Gordon; McCabe, Cristin; Mero, Inger-Lise; Mescheriakova, Julia; Moutsianas, Loukas; Myhr, Kjell-Morten; Nagels, Guy; Nicholas, Richard; Nilsson, Petra; Piehl, Fredrik; Pirinen, Matti; Price, Siân E; Quach, Hong; Reunanen, Mauri; Robberecht, Wim; Robertson, Neil P; Rodegher, Mariaemma; Rog, David; Salvetti, Marco; Schnetz-Boutaud, Nathalie C; Sellebjerg, Finn; Selter, Rebecca C; Schaefer, Catherine; Shaunak, Sandip; Shen, Ling; Shields, Simon; Siffrin, Volker; Slee, Mark; Sorensen, Per Soelberg; Sorosina, Melissa; Sospedra, Mireia; Spurkland, Anne; Strange, Amy; Sundqvist, Emilie; Thijs, Vincent; Thorpe, John; Ticca, Anna; Tienari, Pentti; van Duijn, Cornelia; Visser, Elizabeth M; Vucic, Steve; Westerlind, Helga; Wiley, James S; Wilkins, Alastair; Wilson, James F; Winkelmann, Juliane; Zajicek, John; Zindler, Eva; Haines, Jonathan L; Pericak-Vance, Margaret A; Ivinson, Adrian J; Stewart, Graeme; Hafler, David; Hauser, Stephen L; Compston, Alastair; McVean, Gil; De Jager, Philip; Sawcer, Stephen; McCauley, Jacob L (2013)
      Using the ImmunoChip custom genotyping array, we analysed 14,498 multiple sclerosis subjects and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (p-value < 1.0 × ...

    • Analysis of individual remodeled nucleosomes reveals decreased histone–DNA contacts created by hSWI/SNF 

      Bouazoune, Karim; Miranda, Tina B.; Jones, Peter A.; Kingston, Robert Edward (Oxford University Press, 2009)
      Chromatin remodeling enzymes use the energy of ATP hydrolysis to alter histone–DNA contacts and regulate DNA-based processes in eukaryotes. Whether different subfamilies of remodeling complexes generate distinct products ...

    • Analysis of Ingredients of Supplements in the National Institutes of Health Supplement Database Marketed as Containing a Novel Alternative to Anabolic Steroids 

      Cohen, Pieter; Sharfstein, Joshua; Kamugisha, Angélique; Vanhee, Céline (American Medical Association (AMA), 2020-04-15)