Now showing items 21-35 of 35

    • ‘Location, Location, Location’: a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate 

      Fier, Heide; Won, Sungho; Prokopenko, Dmitry; AlChawa, Taofik; Ludwig, Kerstin U.; Fimmers, Rolf; Silverman, Edwin K.; Pagano, Marcello; Mangold, Elisabeth; Lange, Christoph (Oxford University Press, 2012)
      Motivation: For the analysis of rare variants in sequence data, numerous approaches have been suggested. Fixed and flexible threshold approaches collapse the rare variant information of a genomic region into a test statistic ...
    • Mitochondrial iron chelation ameliorates cigarette-smoke induced bronchitis and emphysema in mice 

      Cloonan, Suzanne M.; Glass, Kimberly; Laucho-Contreras, Maria E.; Bhashyam, Abhiram R.; Cervo, Morgan; Pabón, Maria A.; Konrad, Csaba; Polverino, Francesca; Siempos, Ilias I.; Perez, Elizabeth; Mizumura, Kenji; Ghosh, Manik C.; Parameswaran, Harikrishnan; Williams, Niamh C.; Rooney, Kristen T.; Chen, Zhi-Hua; Goldklang, Monica P.; Yuan, Guo-Cheng; Moore, Stephen C.; Demeo, Dawn L.; Rouault, Tracey A.; D’Armiento, Jeanine M.; Schon, Eric A.; Manfredi, Giovanni; Quackenbush, John; Mahmood, Ashfaq; Silverman, Edwin K.; Owen, Caroline A.; Choi, Augustine M.K. (2015)
      Chronic obstructive pulmonary disease (COPD) is linked to both cigarette smoking and genetic determinants. We have previously identified iron-responsive element binding protein 2 (IRP2) as an important COPD susceptibility ...
    • Modifying Effects of the HFE Polymorphisms on the Association Between Lead Burden and Cognitive Decline 

      Wang, Florence T.; Hu, Howard; Schwartz, Joel David; Weuve, Jennifer Lynn; Spiro, Avron S.; Sparrow, David; Nie, Huiling; Silverman, Edwin Kepner; Weiss, Scott Tillman; Wright, Robert O. (National Institute of Environmental Health Sciences, 2007)
      Background: As iron and lead promote oxidative damage, and hemochromatosis (HFE) gene polymorphisms increase body iron burden, HFE variant alleles may modify the lead burden and cognitive decline relationship. Objective: ...
    • Naturally Occurring Mutations in the Human 5-Lipoxygenase Gene Promoter That Modify Transcription Factor Binding and Reporter Gene Transcription 

      In, Kwang Ho; Asano, Koichiro; Beier, David R.; Grobholz, James; Finn, Patricia W.; Silverman, Edwin; Silverman, Eric S.; Collins, T; Fischer, Andrew R.; Keith, Tim P.; Serino, Kristina; Kim, S W; De Sanctis, George T.; Yandava, Chandri; Pillari, Anthony; Rubin, Paul; Kemp, James; Israel, Elliot; Busse, William W.; Ledford, Dennis; Murray, John J.; Segal, Allen; Tinkleman, David; Drazen, Jeffrey (American Society for Clinical Investigation, 1997-03-01)
      Five lipoxygenase (5-LO) is the first committed enzyme in the metabolic pathway leading to the synthesis of the leukotrienes. We examined genomic DNA isolated from 25 normal subjects and 31 patients with asthma (6 of whom ...
    • Nitric oxide synthase polymorphisms, gene expression and lung function in chronic obstructive pulmonary disease 

      Aminuddin, Farzian; Hackett, Tillie-Louise; Stefanowicz, Dorota; Saferali, Aabida; Paré, Peter D; Gulsvik, Amund; Bakke, Per; Cho, Michael H; Litonjua, Augusto; Lomas, David A; Anderson, Wayne H; Beaty, Terri H; Silverman, Edwin K; Sandford, Andrew J (BioMed Central, 2013)
      Background: Due to the pleiotropic effects of nitric oxide (NO) within the lungs, it is likely that NO is a significant factor in the pathogenesis of chronic obstructive pulmonary disease (COPD). The aim of this study was ...
    • On the Analysis of Genome-Wide Association Studies in Family-Based Designs: A Universal, Robust Analysis Approach and an Application to Four Genome-Wide Association Studies 

      Won, Sungho; Wilk, Jemma B; Mathias, Rasika A.; O'Donnell, Christopher Joseph; Silverman, Edwin Kepner; Barnes, Kathleen; O'Connor, George T.; Weiss, Scott Tillman; Lange, Christoph (Public Library of Science, 2009)
      For genome-wide association studies in family-based designs, we propose a new, universally applicable approach. The new test statistic exploits all available information about the association, while, by virtue of its design, ...
    • Opportunities and Challenges in the Genetics of COPD 2010: An International COPD Genetics Conference Report 

      Agusti, Alvar; Anderson, Wayne; Bakke, Per S; Barnes, Kathleen C; Barr, R Graham; Bleecker, Eugene R; Boezen, H Marike; Burkart, Kristin M; Cookson, William OC; Croxton, Thomas; Daley, Denise; Gan, Weiniu; Garcia-Aymerich, Judith; Hall, Ian P; Hansel, Nadia N; Kalsheker, Noor; Kiley, James P; Lambrechts, Diether; Lee, Sang-Do; Lomas, David A; London, Stephanie J; Nishimura, Masaharu; Postma, Dirkje S; Puhan, Milo A; Tesfaigzi, Yohannes; Tobin, Martin D; Vogelmeier, Claus; Wouters, Emiel; Ziegler-Heitbrock, Loems; MacNee, William; Crapo, James D; Vestbo, Jørgen; Silverman, Edwin Kepner; Cho, Michael Hyosang; Celli, Bartolome R; Demeo, Dawn Lisa; Hersh, Craig Palmer; Wilk, Jemma B; Nørdestgaard, Borge G.; Young, Robert P.; O'Donnell, Christopher J.; Kim, Woo Jin; Litonjua, Augusto Ampil (Informa Healthcare, 2011)
    • Paired inspiratory-expiratory chest CT scans to assess for small airways disease in COPD 

      Hersh, Craig Palmer; Washko, George Richard; Estépar, Raúl San José; Lutz, Sharon; Friedman, Paul J; Han, MeiLan K; Hokanson, John E; Judy, Philip Frank; Lynch, David A; Make, Barry J; Marchetti, Nathaniel; Newell, John D; Sciurba, Frank C; Crapo, James D; Silverman, Edwin Kepner (BioMed Central, 2013)
      Background: Gas trapping quantified on chest CT scans has been proposed as a surrogate for small airway disease in COPD. We sought to determine if measurements using paired inspiratory and expiratory CT scans may be better ...
    • Patterns of Growth and Decline in Lung Function in Persistent Childhood Asthma 

      McGeachie, Michael John; Yates, Katherine; Zhou, Xiaobo; Guo, Feng; Sternberg, Alice L.; Van Natta, Mark L.; Wise, Robert A.; Szefler, Stanley J.; Sharma, Sunita; Kho, Alvin Thong-Juak; Cho, Michael Hyosang; Croteau-Chonka, Damien C; Castaldi, Peter Jose; Jain, Gaurav; Sanyal, Amartya; Zhan, Ye; Lajoie, Bryan R.; Dekker, Job; Stamatoyannopoulos, John; Covar, Ronina A.; Zeiger, Robert S.; Adkinson, N. Franklin; Williams, Paul; Kelly, H. William; Grasemann, Hartmut; Vonk, Judith M.; Koppelman, Gerard H.; Postma, Dirkje S.; Raby, Benjamin Alexander; Houston, Isaac Benjamin; Lu, Quan; Fuhlbrigge, Anne Louise; Tantisira, Kelan; Silverman, Edwin Kepner; Tonascia, James; Weiss, Scott Tillman; Strunk, Robert C. (New England Journal of Medicine (NEJM/MMS), 2016)
      BACKGROUND: Tracking longitudinal measurements of growth and decline in lung function in patients with persistent childhood asthma may reveal links between asthma and subsequent chronic airflow obstruction. METHODS: We ...
    • Persistent Systemic Inflammation is Associated with Poor Clinical Outcomes in COPD: A Novel Phenotype 

      Agustí, Alvar; Edwards, Lisa D.; Rennard, Stephen I.; MacNee, William; Tal-Singer, Ruth; Miller, Bruce E.; Vestbo, Jørgen; Lomas, David A.; Calverley, Peter M. A.; Wouters, Emiel; Crim, Courtney; Yates, Julie C.; Coxson, Harvey O.; Bakke, Per; Mayer, Ruth J.; Silverman, Edwin Kepner; Celli, Bartolome R. (Public Library of Science, 2012)
      Background: Because chronic obstructive pulmonary disease (COPD) is a heterogeneous condition, the identification of specific clinical phenotypes is key to developing more effective therapies. To explore if the persistence ...
    • Sexually-dimorphic targeting of functionally-related genes in COPD 

      Glass, Kimberly; Quackenbush, John; Silverman, Edwin K; Celli, Bartolome; Rennard, Stephen I; Yuan, Guo-Cheng; DeMeo, Dawn L (BioMed Central, 2014)
      Background: There is growing evidence that many diseases develop, progress, and respond to therapy differently in men and women. This variability may manifest as a result of sex-specific structures in gene regulatory ...
    • A Simplified Score to Quantify Comorbidity in COPD 

      Putcha, Nirupama; Puhan, Milo A.; Drummond, M. Bradley; Han, MeiLan K.; Regan, Elizabeth A.; Hanania, Nicola A.; Martinez, Carlos H.; Foreman, Marilyn; Bhatt, Surya P.; Make, Barry; Ramsdell, Joe; DeMeo, Dawn L.; Barr, R. Graham; Rennard, Stephen I.; Martinez, Fernando; Silverman, Edwin K.; Crapo, James; Wise, Robert A.; Hansel, Nadia N. (Public Library of Science, 2014)
      Importance Comorbidities are common in COPD, but quantifying their burden is difficult. Currently there is a COPD-specific comorbidity index to predict mortality and another to predict general quality of life. We sought ...
    • Susceptibility to Chronic Mucus Hypersecretion, a Genome Wide Association Study 

      Dijkstra, Akkelies E.; Smolonska, Joanna; van den Berge, Maarten; Wijmenga, Ciska; Zanen, Pieter; Luinge, Marjan A.; Platteel, Mathieu; Lammers, Jan-Willem; Dahlback, Magnus; Tosh, Kerrie; Hiemstra, Pieter S.; Sterk, Peter J.; Spira, Avi; Vestbo, Jorgen; Nordestgaard, Borge G.; Benn, Marianne; Nielsen, Sune F.; Dahl, Morten; Verschuren, W. Monique; Picavet, H. Susan J.; Smit, Henriette A.; Owsijewitsch, Michael; Kauczor, Hans U.; de Koning, Harry J.; Nizankowska-Mogilnicka, Eva; Mejza, Filip; Nastalek, Pawel; van Diemen, Cleo C.; Cho, Michael H.; Silverman, Edwin K.; Crapo, James D.; Beaty, Terri H.; Lomas, David A.; Bakke, Per; Gulsvik, Amund; Bossé, Yohan; Obeidat, M. A.; Loth, Daan W.; Lahousse, Lies; Rivadeneira, Fernando; Uitterlinden, Andre G.; Hofman, Andre; Stricker, Bruno H.; Brusselle, Guy G.; van Duijn, Cornelia M.; Brouwer, Uilke; Koppelman, Gerard H.; Vonk, Judith M.; Nawijn, Martijn C.; Groen, Harry J. M.; Timens, Wim; Boezen, H. Marike; Postma, Dirkje S. (Public Library of Science, 2014)
      Background: Chronic mucus hypersecretion (CMH) is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. ...
    • Two Mutations in the SARS-CoV-2 Spike Protein and RNA Polymerase Complex Are Associated With COVID-19 Mortality Risk 

      Hahn, Georg; Wu, Chloe M.; Lee, Sanghun; Hecker, Julian; Lutz, Sharon; Haneuse, Sebastien; Qiao, Dandi; Demeo, Dawn; Tanzi, Rudolph; Choudhary, Manish; Etemad, Behzad; Mohammadi, Abbas; Esmaeilzadeh, Elmira; Cho, Michael M.; Li, Jonathan; Randolph, Adrienne; Laird, Nan; Weiss, Scott; Silverman, Edwin; Ribbeck, Katharina; Lange, Christoph (2021)
      SARS-CoV-2 mortality has been extensively studied in relation to host susceptibility. How sequence variations in the SARS-CoV-2 genome affect pathogenicity is poorly understood. Association between whole-genome sequencing ...
    • Xenobiotic Metabolizing Enzyme Gene Polymorphisms Predict Response to Lung Volume Reduction Surgery 

      Hersh, Craig Palmer; Demeo, Dawn Lisa; Reilly, John J.; Silverman, Edwin Kepner (BioMed Central, 2007)
      Background: In the National Emphysema Treatment Trial (NETT), marked variability in response to lung volume reduction surgery (LVRS) was observed. We sought to identify genetic differences which may explain some of this ...