David Stiles
National Institutes of Health
7 Papers
162 Citations
David Stiles is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Gene & Genome. The author has an hindex of 7, co-authored 7 publications.
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Papers
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles.
Vaishali Handa,Deena Goldwater,David Stiles,Margaret C. Cam,George Poy,Daman Kumari,Karen Usdin +6 more
TL;DR: It is shown here that long transcribed but untranslated CGG‐repeat tracts are toxic to human cells and alter the expression of a wide variety of different genes including caspase‐8, CYFIP, Neurotensin and UBE3A.
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The functional effect of pathogenic mutations in Rab escort protein 1.
Yuri V. Sergeev,N. Smaoui,R. Sui,David Stiles,N. Gordiyenko,N.V. Strunnikova,Ian M. MacDonald +6 more
TL;DR: A novel missense mutation, L550P; a truncation c.1542T>A, STOP; and two deletions in the CHM gene and their phenotypic effect are reported, which are associated with a partial or total loss of the REP-1 essential activity and protein-protein interactions as predicted by the analysis of the structure and stability of these protein products.
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
Jin Song,Nizar Smaoui,Radha Ayyagari,David Stiles,Sonia Benhamed,Ian M. MacDonald,Stephen P. Daiger,Santa J. Tumminia,Fielding Hejtmancik,Xinjing Wang +9 more
TL;DR: It is suggested that Retina-Array might be a valuable tool for the detection of disease-causing mutations and disease severity modifiers in a single experiment and may provide a powerful and feasible approach through which to study genetic heterogeneity in retinal diseases.
Microarray studies on the genes responsive to the addition of spermidine or spermine to a Saccharomyces cerevisiae spermidine synthase mutant.
TL;DR: Results from global gene expression profiling demonstrate a more major role for spermidine in modulating gene expression in yeast than spermine.
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Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.
Celina Montemayor-Garcia,Panagiota Karagianni,David Stiles,Erika M. Reese,Danielle A. Smellie,Debrean A. Loy,Kimberly Y. Levy,Magdalene Nwokocha,Marina U Bueno,Jeffery L. Miller,Harvey G. Klein +10 more
TL;DR: The 1000 Genomes Project provides a database of genomic variants from whole genome sequencing of 2504 individuals across five continental superpopulations that can enrich the background knowledge of worldwide blood group variant geographic distribution and identify novel variants of potential clinical significance.
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