Abstract

Participants in this research project may have a disorder called deLange Syndrome (also known as Cornelia deLange or Brachmann-deLange, BDLS), or a genetic abnormality with features similar to BDLS. The purpose of this study is to learn about the molecular and genetic mechanisms underlying BDLS. In particular, we want to study what happens to cells from BDLS patients when they divide. We will culture and study blood cells and/or skin cells taken from participants in the laboratory to see if there is any abnormality. Genetic material will be extracted from the cells and the DNA analysed for genetic changes that might be associated with BDLS. The knowledge gained from these studies may allow doctors to diagnose BDLS more accurately, and to give families with the disorder better genetic counseling. Understanding the cause of BDLS may eventually lead to a treatment for BDLS or for other medical conditions.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR000334-34
Application #
6411369
Study Section
Special Emphasis Panel (ZRR1)
Project Start
1976-12-01
Project End
2004-11-30
Budget Start
Budget End
Support Year
34
Fiscal Year
2000
Total Cost
Indirect Cost

  Institution

Name
Oregon Health and Science University
Department
Type
DUNS #
009584210
City
Portland
State
OR
Country
United States
Zip Code
97239

  Publications

Brenowitz, Willa D; Keene, C Dirk; Hawes, Stephen E et al. (2017) Alzheimer's disease neuropathologic change, Lewy body disease, and vascular brain injury in clinic- and community-based samples. Neurobiol Aging 53:83-92
Brenowitz, Willa D; Hubbard, Rebecca A; Keene, C Dirk et al. (2017) Mixed neuropathologies and estimated rates of clinical progression in a large autopsy sample. Alzheimers Dement 13:654-662
Bergstrom, Colin P; Ruffell, Brian; Ho, Christine M T et al. (2017) Docetaxel and mitoxantrone before radical prostatectomy in men with high-risk prostate cancer: 10-year follow-up and immune correlates. Anticancer Drugs 28:120-126
Narayanan, Kumar; Uy-Evanado, Audrey; Teodorescu, Carmen et al. (2016) Mitral valve prolapse and sudden cardiac arrest in the community. Heart Rhythm 13:498-503
Abner, Erin L; Nelson, Peter T; Kryscio, Richard J et al. (2016) Diabetes is associated with cerebrovascular but not Alzheimer's disease neuropathology. Alzheimers Dement 12:882-9
Sylwester, Andrew; Nambiar, Kate Z; Caserta, Stefano et al. (2016) A new perspective of the structural complexity of HCMV-specific T-cell responses. Mech Ageing Dev 158:14-22
Elliot, Diane; Garg, Bharti; Kuehl, Kerry et al. (2015) Why Are Women Law Enforcement Officers More Burned-Out and What Might Help Them? Occup Med Health Aff 3:
Samuels, Mary H (2014) Psychiatric and cognitive manifestations of hypothyroidism. Curr Opin Endocrinol Diabetes Obes 21:377-83
Redig, Jennifer K; Fouad, Gameil T; Babcock, Darcie et al. (2014) Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. AIMS Genet 1:1-19
Lee, David S H; Markwardt, Sheila; Goeres, Leah et al. (2014) Statins and physical activity in older men: the osteoporotic fractures in men study. JAMA Intern Med 174:1263-70

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