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Artículo
Transcription as a Threat to Genome Integrity
(Annual Reviews Inc., 2016)
Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution. However, these changes may occur at high levels as a result ...
Artículo
FANCD2 facilitates replication through common fragile sites
(Elsevier, 2016)
Common fragile sites (CFSs) are genomic regions that are unstable under conditions of replicative stress. Although the characteristics of CFSs that render them vulnerable to stress are mainly associated with replication, ...
Artículo
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
(Oxford University Press, 2016)
Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local ...
Artículo
Transcription-replication conflicts: How they occur and how they are resolved
(Springer Nature, 2016)
The frequent occurrence of transcription and DNA replication in cells results in many encounters, and thus conflicts, between the transcription and replication machineries. These conflicts constitute a major intrinsic ...
Artículo
Metformin-mediated increase in DICER1 regulates microRNA expression and cellular senescence
(Anatomical Society of Great Britain and Ireland, John Wiley & Sons, 2016)
Metformin, an oral hypoglycemic agent, has been used for decades to treat type 2 diabetes mellitus. Recent studies indicate that mice treated with metformin live longer and have fewer manifestations of age-related chronic ...
Artículo
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
(Nature Publishing Group, 2016)
PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic. We identify the major molecular cause of this incomplete penetrance through three ...
Artículo
PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus
(Springer Nature, 2016)
[Aims/hypothesis]: A strategy to enhance pancreatic islet functional beta cell mass (BCM) while restraining inflammation, through the manipulation of molecular and cellular targets, would provide a means to counteract the ...
Artículo
Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice
(eLife Sciences Publications, 2016)
Congenital diaphragmatic hernia (CDH) is a severe birth defect. Wt1-null mouse embryos develop CDH but the mechanisms regulated by WT1 are unknown. We have generated a murine model with conditional deletion of WT1 in the ...
Artículo
SUMOylation of Rad52-Rad59 synergistically change the outcome of mitotic recombination
(Elsevier, 2016)
Homologous recombination (HR) is essential for maintenance of genome stability through double-strand break (DSB) repair, but at the same time HR can lead to loss of heterozygosity and uncontrolled recombination can be ...
Artículo
Impact of transient down-regulation of DREAM in human embryonic stem cell pluripotency: The role of DREAM in the maintenance of hESCs
(Elsevier, 2016)
Little is knownabout the functions of downstreamregulatory element antagonist modulator (DREAM) inembryonic stem cells (ESCs). However, DREAM interacts with cAMP response element-binding protein (CREB) in a Ca2+-dependent ...