This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.The United Dystrophinopathy Project (UPD) is a research project directed toward understanding how variations in the dystrophin gene affect the clinical symptoms of Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked cardiomopathy (the dystrophinopathies). These investigators have developed a method to rapidly, robustly, and economically perform direct sequence analysis of the entire coding and regulatory regions of the dystrophin gene, greatly expediting the characterization of mutations of many dystrophinopathy patients. In addition, this direct sequence analysis allows them to determine whether variations in the gene which are not known to be disease-causing (called 'polymorphisms') have some influence on the severity or course of the disease. Using this methodology, they will identify the mutations responsible for DMD and BMD in a large cohort of patients. From this same cohort, they will gather longitudinal natural history data, via a standardized and thorough phenotypic characterization obtained by (1) performing standardized clinical examinations, and (2) obtaining a standardized set of historical information. By correlating the genetic variation with severity of disease, they hope to gain a better understanding of how genetic mechanisms influence the disease.

National Institute of Health (NIH)
National Center for Research Resources (NCRR)
General Clinical Research Centers Program (M01)
Project #
Application #
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Iowa
Internal Medicine/Medicine
Schools of Medicine
Iowa City
United States
Zip Code
James, Jennifer; Munson, David; DeMauro, Sara B et al. (2017) Outcomes of Preterm Infants following Discussions about Withdrawal or Withholding of Life Support. J Pediatr 190:118-123.e4
Kwon, Soyang; Janz, Kathleen F; Letuchy, Elena M et al. (2017) Association between body mass index percentile trajectories in infancy and adiposity in childhood and early adulthood. Obesity (Silver Spring) 25:166-171
Warren, John J; Van Buren, John M; Levy, Steven M et al. (2017) Dental caries clusters among adolescents. Community Dent Oral Epidemiol 45:538-544
Marshall, Teresa A; Van Buren, John M; Warren, John J et al. (2017) Beverage Consumption Patterns at Age 13 to 17 Years Are Associated with Weight, Height, and Body Mass Index at Age 17 Years. J Acad Nutr Diet 117:698-706
Denson, Lee A; McDonald, Scott A; Das, Abhik et al. (2017) Early Elevation in Interleukin-6 is Associated with Reduced Growth in Extremely Low Birth Weight Infants. Am J Perinatol 34:240-247
Bell, Edward F; Johnson, Karen J; Dove, Edwin L (2017) Effect of Body Position on Energy Expenditure of Preterm Infants as Determined by Simultaneous Direct and Indirect Calorimetry. Am J Perinatol 34:493-498
Reber, Justin; Tranel, Daniel (2017) Sex differences in the functional lateralization of emotion and decision making in the human brain. J Neurosci Res 95:270-278
Oleson, Jacob J; Cavanaugh, Joseph E; McMurray, Bob et al. (2017) Detecting time-specific differences between temporal nonlinear curves: Analyzing data from the visual world paradigm. Stat Methods Med Res 26:2708-2725
Janz, Kathleen F; Boros, Piroska; Letuchy, Elena M et al. (2017) Physical Activity, Not Sedentary Time, Predicts DXA-Measured Adiposity Age 5-19 Years. Med Sci Sports Exerc :
VanBuren, John; Cavanaugh, Joseph; Marshall, Teresa et al. (2017) AIC identifies optimal representation of longitudinal dietary variables. J Public Health Dent 77:360-371

Showing the most recent 10 out of 372 publications