Search results for "genetics [Transcriptome]"
showing 10 items of 3033 documents
Addressing the gap between genetics knowledge and clinical practice: a pilot study to implement genetics education among physicians in Italy
2012
As a result of large investments in basic science, the genomic discoveries have brought outstanding advances in understanding the molecular basis of human health. Hundreds of genes whose variations contribute to human diseases, or patients’ responses to drug treatments or even to vaccination have been discovered, laying the foundation for a paradigm shift in healthcare...
data for: Northern European Salmo trutta (L.) populations are genetically divergent across geographical regions and environmental gradients.
2019
SNP genotype data used in: Bekkevold, D. , Höjesjö, J. , Nielsen, E. E., Aldvén, D. , Als, T. D., Sodeland, M. , Kent, M. P., Lien, S. and Hansen, M. M. (2019), Northern European Salmo trutta (L.) populations are genetically divergent across geographical regions and environmental gradients. Evol Appl. doi:10.1111/eva.12877.The file is a comma-separated text file, where each row gives a list of 3782 genotypes; one row per individual (2090 total). Each individual is denoted by its collection ID, given as a 'River number' following Table 1 in Bekkevold et al. (doi:10.1111/eva.12877), followed by an underscore (_), followed by 'Individual number'. Individual SNP locus names are given in the top…
Supplemental Table 1. Spearman rank order correlations between individual analysis methods. Significant (p<0.05) coefficients (rs) are indicated i…
2019
Supplemental Table 1. Spearman rank order correlations between individual analysis methods. Significant (p<0.05) coefficients (rs) are indicated in bold. Supplemental Table 2. Impact of amount of starting DNA on telomere lengths (n=3) calculated using 4 different analysis methods and applying 2 different equations.
Supplemental Figure 1 Southern blot images of telomere profiles for (A) 15 human cell lines and (B) 3 peripheral blood samples. A total of 2.0 g of …
2022
Supplemental Figure 1 Southern blot images of telomere profiles for (A) 15 human cell lines and (B) 3 peripheral blood samples. A total of 2.0 g of DNA was loaded for each cell line in (A), and 1.0, 1.5, 2.0 and 2.5 g of DNA, as indicated above each lane, for peripheral blood (PB) samples in (B). bp=base pairs
2015
AbstractReprogramming of mouse somatic cells into induced pluripotent stem cells (iPSCs) often generates partially reprogrammed iPSCs (pre-iPSCs), low-grade chimera forming iPSCs (lg-iPSCs) and fully reprogrammed, high-grade chimera production competent iPSCs (hg-iPSCs). Lg-iPSC transcriptome analysis revealed misregulated Dlk1-Dio3 cluster gene expression and subsequently the imprinting defect at the Dlk1-Dio3 locus. Here, we show that germ-cell marker Dppa3 is present only in lg-iPSCs and hg-iPSCs, and that induction with exogenous Dppa3 enhances reprogramming kinetics, generating all hg-iPSCs, similar to vitamin C (Vc). Conversely, Dppa3-null fibroblasts show reprogramming block at pre-i…
Ascl1 Coordinately Regulates Gene Expression and the Chromatin Landscape during Neurogenesis
2015
Summary The proneural transcription factor Ascl1 coordinates gene expression in both proliferating and differentiating progenitors along the neuronal lineage. Here, we used a cellular model of neurogenesis to investigate how Ascl1 interacts with the chromatin landscape to regulate gene expression when promoting neuronal differentiation. We find that Ascl1 binding occurs mostly at distal enhancers and is associated with activation of gene transcription. Surprisingly, the accessibility of Ascl1 to its binding sites in neural stem/progenitor cells remains largely unchanged throughout their differentiation, as Ascl1 targets regions of both readily accessible and closed chromatin in proliferatin…
2015
Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-scale, dynamic population movements over the last 10,000 years, such that ancestry across present-day populations is likely to be a mixture of several ancient groups [1-7]. While these efforts are bringing the details of West Eurasian prehistory into increasing focus, studies aimed at understanding the processes behind the generation of the current West Eurasian genetic landscape have been limited by…
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
1997
AbstractCleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude th…
MicroRNAs and cellular phenotypy.
2010
This Essay explores the notion that specialized cells have unique vulnerabilities to environmental contingencies that microRNAs help to counteract. Given the ease with which new microRNAs evolve, they may serve as ideal facilitators for the emergence of new cell types.
Structural analyses of a hypothetical minimal metabolism
2007
By integrating data from comparative genomics and large-scale deletion studies, we previously proposed a minimal gene set comprising 206 protein-coding genes. To evaluate the consistency of the metabolism encoded by such a minimal genome, we have carried out a series of computational analyses. Firstly, the topology of the minimal metabolism was compared with that of the reconstructed networks from natural bacterial genomes. Secondly, the robustness of the metabolic network was evaluated by simulated mutagenesis and, finally, the stoichiometric consistency was assessed by automatically deriving the steady-state solutions from the reaction set. The results indicated that the proposed minimal …