Browsing by Subject "Gene Dosage"
Now showing items 1-9 of 9
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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
(The Journal of clinical investigation, 2016-07)Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated ... -
Computational correction of copy number effect improves specificity of CRISPR-Cas9 essentiality screens in cancer cells.
(Nature genetics, 2017-12)The CRISPR-Cas9 system has revolutionized gene editing both at single genes and in multiplexed loss-of-function screens, thus enabling precise genome-scale identification of genes essential for proliferation and survival ... -
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
(PLoS Genet, 2009-06)The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases, but has lacked the resolution ... -
Latent factor analysis to discover pathway-associated putative segmental aneuploidies in human cancers.
(PLoS Comput Biol, 2010-09-02)Tumor microenvironmental stresses, such as hypoxia and lactic acidosis, play important roles in tumor progression. Although gene signatures reflecting the influence of these stresses are powerful approaches to link expression ... -
Low-copy nuclear sequence data confirm complex patterns of farina evolution in notholaenid ferns (Pteridaceae).
(Molecular phylogenetics and evolution, 2019-09)Notholaenids are an unusual group of ferns that have adapted to, and diversified within, the deserts of Mexico and the southwestern United States. With approximately 40 species, this group is noted for being desiccation-tolerant ... -
Strong Selection at MHC in Mexicans since Admixture.
(PLoS genetics, 2016-02-10)Mexicans are a recent admixture of Amerindians, Europeans, and Africans. We performed local ancestry analysis of Mexican samples from two genome-wide association studies obtained from dbGaP, and discovered that at the MHC ... -
The evolutionary history of ferns inferred from 25 low-copy nuclear genes.
(Am J Bot, 2015-07)UNLABELLED: • PREMISE OF THE STUDY: Understanding fern (monilophyte) phylogeny and its evolutionary timescale is critical for broad investigations of the evolution of land plants, and for providing the point of comparison ... -
Transcriptome-mining for single-copy nuclear markers in ferns.
(PloS one, 2013-01)BACKGROUND:Molecular phylogenetic investigations have revolutionized our understanding of the evolutionary history of ferns-the second-most species-rich major group of vascular plants, and the sister clade to seed plants. ... -
Unmasking a role for sex chromosomes in gene silencing.
(Genome Biol, 2010)Several sexually dimorphic phenotypes correlate with sex-chromosome dosage rather than with phenotypic sex. New research suggests that sex chromosome dimorphism helps to regulate gene silencing.
