Browsing Duke Faculty Articles by Subject "mutations"

Now showing items 1-6 of 6

CD20 deficiency in humans results in impaired T cell-independent antibody responses

Tedder, Thomas F. (AMER SOC CLINICAL INVESTIGATION INC, 2010)

CD20 was the first B cell differentiation antigen identified, and CD20-specific mAbs are commonly used for the treatment of B cell malignancies and autoantibody-mediated autoimmune diseases. Despite this the role of CD20 ...
CHD7 Targets Active Gene Enhancer Elements to Modulate ES Cell- Specific Gene Expression

Crawford, Gregory (PUBLIC LIBRARY SCIENCE, 2010)

CHD7 is one of nine members of the chromodomain helicase DNA-binding domain family of ATP-dependent chromatin remodeling enzymes found in mammalian cells. De novo mutation of CHD7 is a major cause of CHARGE syndrome, a ...
Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

Li, Yi-Ju; Young, Terri (PUBLIC LIBRARY SCIENCE, 2010)

Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide ...
Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease

Heinzen, Erin L. (IOS PRESS, 2010)

Alzheimer's disease is a complex and progressive neurodegenerative disease leading to loss of memory, cognitive impairment, and ultimately death. To date, six large-scale genome-wide association studies have been conducted ...
Transmission of Single HIV-1 Genomes and Dynamics of Early Immune Escape Revealed by Ultra-Deep Sequencing

Haynes, Barton (PUBLIC LIBRARY SCIENCE, 2010)

We used ultra-deep sequencing to obtain tens of thousands of HIV-1 sequences from regions targeted by CD8+ T lymphocytes from longitudinal samples from three acutely infected subjects, and modeled viral evolution during ...
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

Cirulli, Liz; Ge, Dr Dongliang; Shianna, Kevin; Smith, Jason P.; Maia, Jessica; Gumbs, Curtis; Goldstein, David (PUBLIC LIBRARY SCIENCE, 2010)

Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing ...