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- 1From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedHigh-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the...
- 2From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedReplication Protein A (RPA) is a heterotrimeric, single-stranded DNA (ssDNA)-binding complex required for DNA replication and repair, homologous recombination, DNA damage checkpoint signaling, and telomere maintenance....
- 3From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedAging is a complex phenotype responsive to a plethora of environmental inputs; yet only a limited number of transcriptional regulators are known to influence life span. How the downstream expression programs mediated by...
- 4From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedChromosome missegregation in germ cells is an important cause of unexplained infertility, miscarriages, and congenital birth defects in humans. However, the molecular defects that lead to production of aneuploid gametes...
- 5From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedTo ensure genomic integrity, the genome must be duplicated exactly once per cell cycle. Disruption of replication licensing mechanisms may lead to re-replication and genomic instability. Cdt1, also known as...
- 6From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedAlong the transformation process, cells accumulate DNA aberrations, including mutations, translocations, amplifications, and deletions. Despite numerous studies, the overall effects of amplifications and deletions on...
- 7From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedAlthough great progress in genome-wide association studies (GWAS) has been made, the significant SNP associations identified by GWAS account for only a few percent of the genetic variance, leading many to question where...
- 8From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedAccurate estimates of mutation rates provide critical information to analyze genome evolution and organism fitness. We used whole-genome DNA sequencing, pulse-field gel electrophoresis, and comparative genome...
- 9From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedWe consider the feasibility of reusing existing control data obtained in genetic association studies in order to reduce costs for new studies. We discuss controlling for the population differences between cases and...
- 10From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedInteractions among genes and the environment are a common source of phenotypic variation. To characterize the interplay between genetics and the environment at single nucleotide resolution, we quantified the genetic and...
- 11From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedCoprinopsis cinerea (also known as Coprinus cinereus) is a multicellular basidiomycete mushroom particularly suited to the study of meiosis due to its synchronous meiotic development and prolonged prophase. We examined...
- 12From: PLoS Genetics. (Vol. 6, Issue 9) Peer-Reviewed
Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon
A model of the gene-regulatory-network (GRN), governing growth, survival, and differentiation of melanocytes, has emerged from studies of mouse coat color mutants and melanoma cell lines. In this model, Transcription... - 13From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedQuantitative Trait Loci (QTL) analyses in immortal populations are a powerful method for exploring the genetic mechanisms that control interactions of organisms with their environment. However, QTL analyses frequently...
- 14From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedA[beta] peptide accumulation is thought to be the primary event in the pathogenesis of Alzheimer's disease (AD), with downstream neurotoxic effects including the hyperphosphorylation of tau protein. Glycogen synthase...
- 15From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedThe relative contribution of genetic risk factors to the progression of subclinical atherosclerosis is poorly understood. It is likely that multiple variants are implicated in the development of atherosclerosis, but the...
- 16From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedDNA- and RNA-processing pathways are integrated and interconnected in the eukaryotic nucleus to allow efficient gene expression and to maintain genomic stability. The recruitment of DNA Topoisomerase I (Topo I), an...
- 17From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedMicroRNAs (miRNAs) have been found to regulate gene expression across eukaryotic species, but the function of most miRNA genes remains unknown. Here we describe how the analysis of the expression patterns of a...
- 18From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedWe present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from...
- 19From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedThe [alpha]-thalassemia/mental retardation X-linked protein (ATRX) is a chromatin-remodeling factor known to regulate DNA methylation at repetitive sequences of the human genome. We have previously demonstrated that...
- 20From: PLoS Genetics. (Vol. 6, Issue 9) Peer-ReviewedAlthough more than 20 genetic susceptibility loci have been reported for type 2 diabetes (T2D), most reported variants have small to moderate effects and account for only a small proportion of the heritability of T2D,...