Abstract

The overall goal of this protocol has been to define treatment modalities for epidermolysis bullosa which are both rational and empirically useful. In the course of the history of this study, patients with epidermolysis bullosa have been critically analyzed clinically, microscopically and biochemically in order to define this complex group of blistering disorders. The disease of immediate interest to the proposal are all forms of epidermolysis bullosa but especially recessive dystriphic epidermolysis bullosa and dominant epidermolysis bullosa simplex. Computer resource in the GCRC will continue to be utilized for data management and electronic data transfer to the National Headquarters in North Carolina.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
3M01RR000070-37S2
Application #
6219294
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
37
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Stanford University
Department
Type
DUNS #
800771545
City
Stanford
State
CA
Country
United States
Zip Code
94305

  Publications

Evangelou, Evangelos (see original citation for additional authors) (2018) Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nat Genet 50:1412-1425
Doherty, Aiden; Smith-Byrne, Karl; Ferreira, Teresa et al. (2018) GWAS identifies 14 loci for device-measured physical activity and sleep duration. Nat Commun 9:5257
Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201
Frayling, Timothy M; Beaumont, Robin N; Jones, Samuel E et al. (2018) A Common Allele in FGF21 Associated with Sugar Intake Is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure. Cell Rep 23:327-336
Latva-Rasku, Aino; Honka, Miikka-Juhani; Stan?áková, Alena et al. (2018) A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study. Diabetes 67:334-342
Srinivasan, Lakshmi; Page, Grier; Kirpalani, Haresh et al. (2017) Genome-wide association study of sepsis in extremely premature infants. Arch Dis Child Fetal Neonatal Ed 102:F439-F445
Di Fiore, Juliann M; Martin, Richard J; Li, Hong et al. (2017) Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort. J Pediatr 186:49-56.e1
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
Holmes, Michael V; Pulit, Sara L; Lindgren, Cecilia M (2017) Genetic and epigenetic studies of adiposity and cardiometabolic disease. Genome Med 9:82
Younge, Noelle; Goldstein, Ricki F; Bann, Carla M et al. (2017) Survival and Neurodevelopmental Outcomes among Periviable Infants. N Engl J Med 376:617-628

Showing the most recent 10 out of 589 publications