Now showing items 1-15 of 15

    • At the Heart of the Genome: Rare Genetic Variation, Cardiovascular Disease, and Therapy 

      Bick, Alexander George (2014-06-06)
      Studies of large families with inherited single gene disorders identified a role of rare genetic variation as a cause of disease and enabled gene-based diagnosis. The increasing availability of population-scale genomic ...
    • A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington’s Disease CAG Knock-In Mice 

      Hölter, Sabine M.; Stromberg, Mary; Kovalenko, Marina; Garrett, Lillian; Glasl, Lisa; Lopez, Edith; Guide, Jolene; Götz, Alexander; Hans, Wolfgang; Becker, Lore; Rathkolb, Birgit; Rozman, Jan; Schrewed, Anja; Klingenspor, Martin; Klopstock, Thomas; Schulz, Holger; Wolf, Eckhard; Wursta, Wolfgang; Gillis, Tammy; Wakimoto, Hiroko; Seidman, Jonathan; MacDonald, Marcy E.; Cotman, Susan; Gailus-Durner, Valérie; Fuchs, Helmut; de Angelis, Martin Hrabě; Lee, Jong-Min; Wheeler, Vanessa C. (Public Library of Science, 2013)
      Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the HTT gene encoding huntingtin. The disease has an insidious course, typically ...
    • Comprehensive molecular characterization of gastric adenocarcinoma 

      Bass, Adam J.; Thorsson, Vesteinn; Shmulevich, Ilya; Reynolds, Sheila M.; Miller, Michael; Bernard, Brady; Hinoue, Toshinori; Laird, Peter W.; Curtis, Christina; Shen, Hui; Weisenberger, Daniel J.; Schultz, Nikolaus; Shen, Ronglai; Weinhold, Nils; Kelsen, David P.; Bowlby, Reanne; Chu, Andy; Kasaian, Katayoon; Mungall, Andrew J.; Robertson, A. Gordon; Sipahimalani, Payal; Cherniack, Andrew; Getz, Gad; Liu, Yingchun; Noble, Michael S.; Pedamallu, Chandra; Sougnez, Carrie; Taylor-Weiner, Amaro; Akbani, Rehan; Lee, Ju-Seog; Liu, Wenbin; Mills, Gordon B.; Yang, Da; Zhang, Wei; Pantazi, Angeliki; Parfenov, Michael; Gulley, Margaret; Piazuelo, M. Blanca; Schneider, Barbara G.; Kim, Jihun; Boussioutas, Alex; Sheth, Margi; Demchok, John A.; Rabkin, Charles S.; Willis, Joseph E.; Ng, Sam; Garman, Katherine; Beer, David G.; Pennathur, Arjun; Raphael, Benjamin J.; Wu, Hsin-Ta; Odze, Robert; Kim, Hark K.; Bowen, Jay; Leraas, Kristen M.; Lichtenberg, Tara M.; Weaver, Stephanie; McLellan, Michael; Wiznerowicz, Maciej; Sakai, Ryo; Lawrence, Michael S.; Cibulskis, Kristian; Lichtenstein, Lee; Fisher, Sheila; Gabriel, Stacey B.; Lander, Eric S.; Ding, Li; Niu, Beifang; Ally, Adrian; Balasundaram, Miruna; Birol, Inanc; Brooks, Denise; Butterfield, Yaron S. N.; Carlsen, Rebecca; Chu, Justin; Chuah, Eric; Chun, Hye-Jung E.; Clarke, Amanda; Dhalla, Noreen; Guin, Ranabir; Holt, Robert A.; Jones, Steven J.M.; Lee, Darlene; Li, Haiyan A.; Lim, Emilia; Ma, Yussanne; Marra, Marco A.; Mayo, Michael; Moore, Richard A.; Mungall, Karen L.; Nip, Ka Ming; Schein, Jacqueline E.; Tam, Angela; Thiessen, Nina; Beroukhim, Rameen; Carter, Scott L.; Cherniack, Andrew D.; Cho, Juok; DiCara, Daniel; Frazer, Scott; Gehlenborg, Nils; Heiman, David I.; Jung, Joonil; Kim, Jaegil; Lin, Pei; Meyerson, Matthew; Ojesina, Akinyemi I.; Pedamallu, Chandra Sekhar; Saksena, Gordon; Schumacher, Steven E.; Stojanov, Petar; Tabak, Barbara; Voet, Doug; Rosenberg, Mara; Zack, Travis I.; Zhang, Hailei; Zou, Lihua; Protopopov, Alexei; Santoso, Netty; Lee, Semin; Zhang, Jianhua; Mahadeshwar, Harshad S.; Tang, Jiabin; Ren, Xiaojia; Seth, Sahil; Yang, Lixing; Xu, Andrew W.; Song, Xingzhi; Xi, Ruibin; Bristow, Christopher A.; Hadjipanayis, Angela; Seidman, Jonathan; Chin, Lynda; Park, Peter J.; Kucherlapati, Raju; Ling, Shiyun; Rao, Arvind; Weinstein, John N.; Kim, Sang-Bae; Lu, Yiling; Mills, Gordon; Bootwalla, Moiz S.; Lai, Phillip H.; Triche, Timothy; Van Den Berg, David J.; Baylin, Stephen B.; Herman, James G.; Murray, Bradley A.; Askoy, B. Arman; Ciriello, Giovanni; Dresdner, Gideon; Gao, Jianjiong; Gross, Benjamin; Jacobsen, Anders; Lee, William; Ramirez, Ricardo; Sander, Chris; Senbabaoglu, Yasin; Sinha, Rileen; Sumer, S. Onur; Sun, Yichao; Thorsson, Vésteinn; Iype, Lisa; Kramer, Roger W.; Kreisberg, Richard; Rovira, Hector; Tasman, Natalie; Ng, Santa Cruz Sam; Haussler, David; Stuart, Josh M.; Verhaak, Roeland G.W.; Leiserson, Mark D. M.; Taylor, Barry S.; Black, Aaron D.; Carney, Julie Ann; Gastier-Foster, Julie M.; Helsel, Carmen; McAllister, Cynthia; Ramirez, Nilsa C.; Tabler, Teresa R.; Wise, Lisa; Zmuda, Erik; Penny, Robert; Crain, Daniel; Gardner, Johanna; Lau, Kevin; Curely, Erin; Mallery, David; Morris, Scott; Paulauskis, Joseph; Shelton, Troy; Shelton, Candace; Sherman, Mark; Benz, Christopher; Lee, Jae-Hyuk; Fedosenko, Konstantin; Manikhas, Georgy; Potapova, Olga; Voronina, Olga; Belyaev, Smitry; Dolzhansky, Oleg; Rathmell, W. Kimryn; Brzezinski, Jakub; Ibbs, Matthew; Korski, Konstanty; Kycler, Witold; ŁaŸniak, Radoslaw; Leporowska, Ewa; Mackiewicz, Andrzej; Murawa, Dawid; Murawa, Pawel; Spychała, Arkadiusz; Suchorska, Wiktoria M.; Tatka, Honorata; Teresiak, Marek; Abdel-Misih, Raafat; Bennett, Joseph; Brown, Jennifer; Iacocca, Mary; Rabeno, Brenda; Kwon, Sun-Young; Kemkes, Ariane; Curley, Erin; Alexopoulou, Iakovina; Engel, Jay; Bartlett, John; Albert, Monique; Park, Do-Youn; Dhir, Rajiv; Luketich, James; Landreneau, Rodney; Janjigian, Yelena Y.; Cho, Eunjung; Ladanyi, Marc; Tang, Laura; McCall, Shannon J.; Park, Young S.; Cheong, Jae-Ho; Ajani, Jaffer; Camargo, M. Constanza; Alonso, Shelley; Ayala, Brenda; Jensen, Mark A.; Pihl, Todd; Raman, Rohini; Walton, Jessica; Wan, Yunhu; Eley, Greg; Mills Shaw, Kenna R.; Tarnuzzer, Roy; Wang, Zhining; Yang, Liming; Zenklusen, Jean Claude; Davidsen, Tanja; Hutter, Carolyn M.; Sofia, Heidi J.; Burton, Robert; Chudamani, Sudha; Liu, Jia (2014)
      Gastric cancer is a leading cause of cancer deaths, but analysis of its molecular and clinical characteristics has been complicated by histological and aetiological heterogeneity. Here we describe a comprehensive molecular ...
    • Developments in Human Pluripotent Stem Cell Genome Engineering and in Situ Sequencing Technologies 

      Yang, Joyce Lichi (2015-05-19)
      Technology is a key driving force in the advancement of scientific discoveries. While DNA sequencing uncovered the blueprint of life encoded in the human genome, functional roles of sequence variants remain largely unknown. ...
    • Dissecting Spatio-Temporal Protein Networks Driving Human Heart Development and Related Disorders 

      Lage, Kasper; Møllgård, Kjeld; Greenway, Steven; Workman, Christopher T; Bendsen, Eske; Hansen, Niclas T; Rigina, Olga; Roque, Francisco S; Wiese, Cornelia; Christoffels, Vincent M; Tommerup, Niels; Brunak, Søren; Larsen, Lars A; Wakimoto, Hiroko; Gorham, Josh McClean; Roberts, Amy Elizabeth; Smoot, Leslie; Pu, William T.; Donahoe, Patricia; Seidman, Christine Edry; Seidman, Jonathan G. (Nature Publishing Group, 2010)
      Aberrant organ development is associated with a wide spectrum of disorders, from schizophrenia to congenital heart disease, but systems-level insight into the underlying processes is very limited. Using heart morphogenesis ...
    • Hypertrophic cardiomyopathy: Translating cellular cross talk into therapeutics 

      Teekakirikul, Polakit; Padera, Robert Francis; Seidman, Jonathan G.; Seidman, Christine Edry (The Rockefeller University Press, 2012)
      Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with serious adverse outcomes, including heart failure, arrhythmias, and sudden cardiac death. The discovery that mutations in sarcomere protein genes ...
    • The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle 

      Saddic, Louis A.; Sigurdsson, Martin I.; Chang, Tzuu-Wang; Mazaika, Erica; Heydarpour, Mahyar; Shernan, Stanton K.; Seidman, Christine Edry; Seidman, Jonathan G.; Aranki, Sary Fouad; Body, Simon Christopher; Muehlschlegel, Jochen Daniel (Ovid Technologies (Wolters Kluwer Health), 2017)
      Background—The discovery of functional classes of long noncoding RNAs (lncRNAs) has expanded our understanding of the variety of RNA species that exist in cells. In the heart, lncRNAs have been implicated in the regulation ...
    • Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, But Not Ollier Disease or Maffucci Syndrome 

      Campos-Xavier, Belinda; Superti-Furga, Andrea; Ikegawa, Shiro; Cormier-Daire, Valerie; Pansuriya, Twinkal C.; Savarirayan, Ravi; Andreucci, Elena; Vikkula, Miikka; Garavelli, Livia; Pottinger, Caroline; Ogino, Toshihiko; Sakai, Akinori; Regazzoni, Bianca M.; Wuyts, Wim; Sangiorgi, Luca; Pedrini, Elena; Bowen, Margot E.; Kurek, Kyle Christopher; Boyden, Eric David; Holm, Ingrid Adele; Bonafé, Luisa; Bovée, Judith V.; de Sousa, Sérgio b.; Zhu, Meijun; Kozakewich, Harry Peter Wolodymir; Kasser, James R.; Seidman, Jonathan G.; Warman, Matthew L. (Public Library of Science, 2011)
      Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis ...
    • Methods for comprehensive transcriptome analysis using next-generation sequencing and application in hypertrophic cardiomyopathy 

      Christodoulou, Danos C. (2013-10-08)
      Characterization of the RNA transcriptome by next-generation sequencing can produce an unprecedented yield of information that provides novel biologic insights. I describe four approaches for sequencing different aspects ...
    • De novo mutations in histone modifying genes in congenital heart disease 

      Zaidi, Samir; Choi, Murim; Wakimoto, Hiroko; Ma, Lijiang; Jiang, Jianming; Overton, John D.; Romano-Adesman, Angela; Bjornson, Robert D.; Breitbart, Roger E.; Brown, Kerry K.; Carriero, Nicholas J.; Cheung, Yee Him; Deanfield, John; DePalma, Steve; Fakhro, Khalid A.; Glessner, Joseph; Hakonarson, Hakon; Italia, Michael; Kaltman, Jonathan R.; Kaski, Juan; Kim, Richard; Kline, Jennie K.; Lee, Teresa; Leipzig, Jeremy; Lopez, Alexander; Mane, Shrikant M.; Mitchell, Laura E.; Newburger, Jane W.; Parfenov, Michael; Pe'er, Itsik; Porter, George; Roberts, Amy; Sachidanandam, Ravi; Sanders, Stephan J.; Seiden, Howard S.; State, Mathew W.; Subramanian, Sailakshmi; Tikhonova, Irina R.; Wang, Wei; Warburton, Dorothy; White, Peter S.; Williams, Ismee A.; Zhao, Hongyu; Seidman, Jonathan G.; Brueckner, Martina; Chung, Wendy K.; Gelb, Bruce D.; Goldmuntz, Elizabeth; Seidman, Christine E.; Lifton, Richard P. (2013)
      Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome ...
    • Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain 

      García-Giustiniani, Diego; Arad, Michael; Ortíz-Genga, Martín; Barriales-Villa, Roberto; Fernández, Xusto; Rodríguez-García, Isabel; Mazzanti, Andrea; Veira, Elena; Maneiro, Emilia; Rebolo, Paula; Lesende, Iván; Cazón, Laura; Freimark, Dov; Gimeno-Blanes, Juan Ramón; Seidman, Christine; Seidman, Jonathan; McKenna, William; Monserrat, Lorenzo (BMJ Publishing Group, 2015)
      Objectives: The prognostic value of genetic studies in cardiomyopathies is still controversial. Our objective was to evaluate the outcome of patients with cardiomyopathy with mutations in the converter domain of β myosin ...
    • The Role of Cardiac Troponin T Quantity and Function in Cardiac Development and Dilated Cardiomyopathy 

      Ahmad, Ferhaan; Banerjee, Sanjay K.; Lage, Michele L.; Huang, Xueyin N.; Saba, Samir; Rager, Jennifer; Janczewski, Andrzej M.; Tobita, Kimimasa; Tinney, Joseph P.; Moskowitz, Ivan P.; Keller, Bradley B.; Mathier, Michael A.; Shroff, Sanjeev G.; Smith, Stephen H.; Conner, David Atwater; Perez-Atayde, Antonio Rafael; Seidman, Christine Edry; Seidman, Jonathan G. (Public Library of Science, 2008)
      Background: Hypertrophic (HCM) and dilated (DCM) cardiomyopathies result from sarcomeric protein mutations, including cardiac troponin T (cTnT, TNNT2). We determined whether TNNT2 mutations cause cardiomyopathies by altering ...
    • Stable Gene Targeting in Human Cells Using Single-Strand Oligonucleotides with Modified Bases 

      Rios, Xavier; Briggs, Adrian; Christodoulou, Danos C.; Gorham, Josh McClean; Seidman, Jonathan G.; Church, George McDonald (Public Library of Science, 2012)
      Recent advances allow multiplexed genome engineering in E. coli, employing easily designed oligonucleotides to edit multiple loci simultaneously. A similar technology in human cells would greatly expedite functional genomics, ...
    • Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells 

      Yang, Luhan; Grishin, Dennis; Wang, Gang; Aach, John; Zhang, Cheng-Zhong; Chari, Raj; Homsy, Jason; Cai, Xuyu; Zhao, Yue; Fan, Jian-Bing; Seidman, Christine; Seidman, Jonathan; Pu, William; Church, George (Nature Pub. Group, 2014)
      CRISPR/Cas9 has demonstrated a high-efficiency in site-specific gene targeting. However, potential off-target effects of the Cas9 nuclease represent a major safety concern for any therapeutic application. Here, we knock ...
    • Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy 

      Hinson, John Travis; Chopra, Anant; Nafissi, N.; Polacheck, William; Benson, Craig Carlyle; Swist, S.; Gorham, Joshua McClean; Yang, Luhan; Schafer, S.; Sheng, Calvin Chen; Haghighi, Alireza; Homsy, Jason George; Hubner, N.; Church, George McDonald; Cook, S. A.; Linke, Wolfgang; Chen, Christopher; Seidman, Jonathan G.; Seidman, Christine Edry (American Association for the Advancement of Science (AAAS), 2015)
      Human mutations that truncate the massive sarcomere protein titin [TTN-truncating variants (TTNtvs)] are the most common genetic cause for dilated cardiomyopathy (DCM), a major cause of heart failure and premature death. ...