Abstract

The purpose of this study is to identify the genetic mutations associated with Primary Ciliary Dyskinesia (PCD), a disease of defective cilia, muccociliary clearance, and chronic lung and sinus disease. No genetic mutations have yet been discovered to be linked to PCD in humans. We wish to identify patients with PCD and focus on multiplex families (more than one member affected, more than one generation available) to bring to the GCRC for detailed clinical assessments, to include chest and sinus radiographs, lung function tests, ciliary biopsies, nasal nitric oxide measurements and DNA acquisition. We will also send out kits through the mail to unaffected family members who are unable to travel to Chapel Hill which allow DNA to be sampled from the cheek (a simple buccal scrape). The final database will allow careful correlation between affected members, unaffected members and phenotype (ciliary ultra-structure), and allow a careful search for genetic mutations through linkage analysis and using candidate genes.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
3M01RR000046-39S2
Application #
6263896
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
39
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
University of North Carolina Chapel Hill
Department
Type
DUNS #
078861598
City
Chapel Hill
State
NC
Country
United States
Zip Code
27599

  Publications

Venuto, Charles S; Lim, Jihoon; Messing, Susan et al. (2018) Inflammation investigated as a source of pharmacokinetic variability of atazanavir in AIDS Clinical Trials Group protocol A5224s. Antivir Ther 23:345-351
Malinen, Melina M; Kauttonen, Antti; Beaudoin, James J et al. (2018) Novel In Vitro Method Reveals Drugs that Inhibit Solute Transporter Alpha/Beta (OST?/?). Mol Pharm :
Li, Binglan; Verma, Shefali S; Veturi, Yogasudha C et al. (2018) Evaluation of PrediXcan for prioritizing GWAS associations and predicting gene expression. Pac Symp Biocomput 23:448-459
Hanly, John G; Li, Qiuju; Su, Li et al. (2018) Cerebrovascular Events in Systemic Lupus Erythematosus: Results From an International Inception Cohort Study. Arthritis Care Res (Hoboken) 70:1478-1487
Barber, Megan R W; Hanly, John G; Su, Li et al. (2018) Economic Evaluation of Lupus Nephritis in the Systemic Lupus International Collaborating Clinics Inception Cohort Using a Multistate Model Approach. Arthritis Care Res (Hoboken) 70:1294-1302
Rini, Christine; Vu, Maihan B; Lerner, Hannah et al. (2018) A qualitative study of patient and provider perspectives on using web-based pain coping skills training to treat persistent cancer pain. Palliat Support Care 16:155-169
Little, Jayne; Parker, Ben; Lunt, Mark et al. (2018) Glucocorticoid use and factors associated with variability in this use in the Systemic Lupus International Collaborating Clinics Inception Cohort. Rheumatology (Oxford) 57:677-687
Abdullah, Lubna H; Coakley, Raymond; Webster, Megan J et al. (2018) Mucin Production and Hydration Responses to Mucopurulent Materials in Normal versus Cystic Fibrosis Airway Epithelia. Am J Respir Crit Care Med 197:481-491
Martin, Maureen P; Naranbhai, Vivek; Shea, Patrick R et al. (2018) Killer cell immunoglobulin-like receptor 3DL1 variation modifies HLA-B*57 protection against HIV-1. J Clin Invest 128:1903-1912
Haas, David W; Bradford, Yuki; Verma, Anurag et al. (2018) Brain neurotransmitter transporter/receptor genomics and efavirenz central nervous system adverse events. Pharmacogenet Genomics 28:179-187

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