Now showing items 1-17 of 17

    • 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 ...
    • 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 ...
    • Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy 

      Rajkumar, Revathi; Sembrat, John C; McDonough, Barbara Anne; Seidman, Christine Edry; Ahmad, Ferhaan (BioMed Central, 2012)
      Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are ...
    • 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 RNA expression and allele-specific expression associated with congenital heart disease 

      McKean, David M.; Homsy, Jason; Wakimoto, Hiroko; Patel, Neil; Gorham, Joshua; DePalma, Steven R.; Ware, James S.; Zaidi, Samir; Ma, Wenji; Patel, Nihir; Lifton, Richard P.; Chung, Wendy K.; Kim, Richard; Shen, Yufeng; Brueckner, Martina; Goldmuntz, Elizabeth; Sharp, Andrew J.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, J. G. (Nature Publishing Group, 2016)
      Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, ...
    • The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine 

      Vassy, Jason L; Lautenbach, Denise M; McLaughlin, Heather M; Kong, Sek Won; Christensen, Kurt D; Krier, Joel; Kohane, Isaac S; Feuerman, Lindsay Z; Blumenthal-Barby, Jennifer; Roberts, J Scott; Lehmann, Lisa Soleymani; Ho, Carolyn Y; Ubel, Peter A; MacRae, Calum A; Seidman, Christine E; Murray, Michael F; McGuire, Amy L; Rehm, Heidi L; Green, Robert C (BioMed Central, 2014)
      Background: Whole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. ...
    • 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 ...
    • Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies 

      Fish, Maryam; Shaboodien, Gasnat; Kraus, Sarah; Sliwa, Karen; Seidman, Christine E.; Burke, Michael A.; Crotti, Lia; Schwartz, Peter J.; Mayosi, Bongani M. (Nature Publishing Group, 2016)
      Cardiomyopathy is an important cause of heart failure in Sub-Saharan Africa, accounting for up to 30% of adult heart failure hospitalisations. This high prevalence poses a challenge in societies without access to resources ...
    • NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity 

      Abou Hassan, Ossama K.; Fahed, Akl C.; Batrawi, Manal; Arabi, Mariam; Refaat, Marwan M.; DePalma, Steven R.; Seidman, J. G.; Seidman, Christine E.; Bitar, Fadi F.; Nemer, Georges M. (Nature Publishing Group, 2015)
      NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from molecular and animal studies, genotype-phenotype correlations in humans are limited by the lack of large ...
    • 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 ...
    • A systematic approach to the reporting of medically relevant findings from whole genome sequencing 

      McLaughlin, Heather M; Ceyhan-Birsoy, Ozge; Christensen, Kurt D; Kohane, Isaac S; Krier, Joel; Lane, William J; Lautenbach, Denise; Lebo, Matthew S; Machini, Kalotina; MacRae, Calum A; Azzariti, Danielle R; Murray, Michael F; Seidman, Christine E; Vassy, Jason L; Green, Robert C; Rehm, Heidi L (BioMed Central, 2014)
      Background: The MedSeq Project is a randomized clinical trial developing approaches to assess the impact of integrating genome sequencing into clinical medicine. To facilitate the return of results of potential medical ...
    • 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. ...
    • Transcriptional Profiling of Cultured, Embryonic Epicardial Cells Identifies Novel Genes and Signaling Pathways Regulated by TGFβR3 In Vitro 

      DeLaughter, Daniel M.; Clark, Cynthia R.; Christodoulou, Danos C.; Seidman, Christine E.; Baldwin, H. Scott; Seidman, J. G.; Barnett, Joey V. (Public Library of Science, 2016)
      The epicardium plays an important role in coronary vessel formation and Tgfbr3-/- mice exhibit failed coronary vessel development associated with decreased epicardial cell invasion. Immortalized Tgfbr3-/- epicardial cells ...