| 1. |
- Budd, Graham E.
(författare)
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At the Origin of Animals : The Revolutionary Cambrian Fossil Record
- 2013
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Ingår i: Current Genomics. - 1389-2029 .- 1875-5488. ; 14:6, s. 344-354
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Tidskriftsartikel (refereegranskat)abstract
- The certain fossil record of animals begins around 540 million years ago, close to the base of the Cambrian Period. A series of extraordinary discoveries starting over 100 years ago with Walcott's discovery of the Burgess Shale has accelerated in the last thirty years or so with the description of exceptionally-preserved Cambrian fossils from around the world. Such deposits of "Burgess Shale Type" have been recently complemented by other types of exceptional preservation. Together with a remarkable growth in knowledge about the environments that these early animals lived in, these discoveries have long exerted a fascination and strong influence on views on the origins of animals, and indeed, the nature of evolution itself. Attention is now shifting to the period of time just before animals become common, at the base of the Cambrian and in the preceding Ediacaran Period. Remarkable though the Burgess Shale deposits have been, a substantial gap still exists in our knowledge of the earliest animals. Nevertheless, the fossils from this most remarkable period of evolutionary history continue to exert a strong influence on many aspects of animal evolution, not least recent theories about developmental evolution.
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| 2. |
- Hultén, Maj A, et al.
(författare)
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Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?
- 2010
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Ingår i: CURRENT GENOMICS. - : Bentham Science Publishers Ltd. - 1389-2029 .- 1875-5488. ; 11:6, s. 409-419
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Tidskriftsartikel (refereegranskat)abstract
- It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and Trisomy 21 mosaicism documented in different somatic tissues, or indeed a combination of both in the same subjects. Information on the incidence of Trisomy 21 mosaicism in different tissue samples from people with clinical features of Down syndrome as well as in the general population is, however, still limited. One of the main reasons for this lack of detailed knowledge is the technological problem of its identification, where in particular low grade/cryptic Trisomy 21 mosaicism, i.e. occurring in less than 3-5% of the respective tissues, can only be ascertained by fluorescence in situ hybridization (FISH) methods on large cell populations from the different tissue samples. In this review we summarize current knowledge in this field with special reference to the question on the likely incidence of germinal and somatic Trisomy 21 mosaicism in the general population and its mechanisms of origin. We also highlight the reproductive and clinical implications of this type of aneuploidy mosaicism for individual carriers. We conclude that the risk of begetting a child with Trisomy 21 Down syndrome most likely is related to the incidence of Trisomy 21 cells in the germ line of any carrier parent. The clinical implications for individual carriers may likewise be dependent on the incidence of Trisomy 21 in the relevant somatic tissues. Remarkably, for example, there are indications that Trisomy 21 mosaicism will predispose carriers to conditions such as childhood leukemia and Alzheimers Disease but there is on the other hand a possibility that the risk of solid cancers may be substantially reduced.
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| 3. |
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| 4. |
- Ek, Sara, et al.
(författare)
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Parallel gene expression profiling of mantle cell lymphoma - How do we transform 'omics data into clinical practice
- 2007
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Ingår i: Current Genomics. - : Bentham Science Publishers Ltd.. - 1389-2029. ; 8:3, s. 171-179
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Tidskriftsartikel (refereegranskat)abstract
- DNA microarray technology has been a valuable tool to provide a global view of the changes in gene expression that characterize different types of B cell lymphomas, both in relation to clinical parameters but also in comparison with the non-malignant counterparts. The number of transcripts that can be analyzed on an array has dramatically increased, and now most commercially available arrays cover the whole genome, enabling overall analysis of the transcriptome. The backside of collecting this massive amount of information is that even after strict data filtering, it is impossible to do follow-up studies on all findings. Down-stream analysis is time-consuming and when performing confirmatory experiments on the protein level, the experiments are in most cases restricted to proteins recognized by commercially available reagents. Furthermore, since gene expression data is a comparative method not only are the experimental set-up but also the characteristics of both the sample and reference crucial for our ability to answer the questions posed. Thus, initial care must be taken in the design of the experiment and the preparation of the samples. The aim of this review is to discuss the progress in mantle cell lymphoma research enabled by gene expression analysis and to pinpoint the difficulties in making efficient use of the generated data to provide a fast and accurate clinical diagnosis, efficient stratification of patients into disease sub-groups and improved therapy.
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| 5. |
- Grond-Ginsbach, C., et al.
(författare)
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Genetic Imbalance in Patients with Cervical Artery Dissection
- 2017
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Ingår i: Current Genomics. - : Bentham Science Publishers Ltd.. - 1389-2029. ; 18:2, s. 206-213
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Tidskriftsartikel (refereegranskat)abstract
- Background: Genetic and environmental risk factors are assumed to contribute to the susceptibility to cervical artery dissection (CeAD). To explore the role of genetic imbalance in the etiology of CeAD, copy number variants (CNVs) were identified in high-density microarrays samples from the multicenter CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) study and from control subjects from the CADISP study and the German PopGen biobank. Microarray data from 833 CeAD patients and 2040 control subjects (565 subjects with ischemic stroke due to causes different from CeAD and 1475 disease-free individuals) were analyzed. Rare genic CNVs were equally frequent in CeAD-patients (16.4%; n=137) and in control subjects (17.0%; n=346) but differed with respect to their genetic content. Compared to control subjects, CNVs from CeAD patients were enriched for genes associated with muscle organ development and cell differentiation, which suggests a possible association with arterial development. CNVs affecting cardiovascular system development were more common in CeAD patients than in control subjects (p=0.003; odds ratio (OR) =2.5; 95% confidence interval (95% CI) = 1.4-4.5) and more common in patients with a familial history of CeAD than in those with sporadic CeAD (p=0.036; OR=11.2; 95% CI=1.2-107). Conclusion: The findings suggest that rare genetic imbalance affecting cardiovascular system development may contribute to the risk of CeAD. Validation of these findings in independent study populations is warranted.
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| 6. |
- Klipp, Edda, et al.
(författare)
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Shutting the MAP off - and on again?
- 2004
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Ingår i: Current Genomics. - 1389-2029. ; 5:8, s. 637-647
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Tidskriftsartikel (refereegranskat)abstract
- Signal transduction pathways are the cellular information routes with which cells monitor their surrounding as well as their own state and adjust to environmental changes or hormonal stimuli. MAP kinase pathways are one type of signalling systems in eukaryotes that control stress responses, cell growth and proliferation as well as differentiation. In this study we compare two very well studied yeast signalling systems, the pheromone response pathway and the osmosensing HOG pathway. We have recently generated mathematical models that allow in silico analysis of signalling properties for both pathways. Deactivation of signalling is as important as activation because inappropriate pathway activation causes cell cycle arrest (in the cases studied here) or uncontrolled proliferation. Both pathways are transiently activated by their stimulus, i.e. mating pheromone and osmostress, respectively, indicating rigorous feedback mechanisms. However, the HOG pathway can readily be reactivated by a subsequent stimulus and this is important for its biological role in mediating osmoadaptation. The pheromone response pathway, however, is desensitised and is unable to respond for a certain period of time. While some mechanisms of feedback control are similar in both systems (such as the downregulatory, role of protein phosphatases) the main difference seems to lie in the control of the sensors/receptors. The pheromone receptors are internalised and degraded following stimulation and hence are not available for further stimulation. The osmosensors on the other hand, seem to toggle between activated and deactivated state only controlled by osmotic changes. Together with subtle control by protein phosphatases this results in a system that is constantly receptive for stimulation.
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| 7. |
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| 8. |
- Vihinen, Mauno
(författare)
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Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics
- 2023
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Ingår i: Current Genomics. - 1389-2029. ; 24:1, s. 18-23
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Forskningsöversikt (refereegranskat)abstract
- Synonymous (also known as silent) variations are by definition not considered to change the coded protein. Still many variations in this category affect either protein abundance or properties. As this situation is confusing, we have recently introduced systematics for synonymous variations and those that may on the surface look like synonymous, but these may affect the coded protein in various ways. A new category, unsense variation, was introduced to describe variants that do not introduce a stop codon into the variation site, but which lead to different types of changes in the coded protein. Many of these variations lead to mRNA degradation and missing protein. Here, consequences of the systematics are discussed from the perspectives of variation annotation and interpretation, evolutionary calculations, nonsynonymous-to-synonymous substitution rates, phylogenetics and other evolutionary inferences that are based on the principle of (nearly) neutral synonymous variations. It may be necessary to reassess published results. Further, databases for synonymous variations and prediction methods for such variations should consider unsense variations. Thus, there is a need to evaluate and reflect principles of numerous aspects in genetics, ranging from variation naming and classification to evolutionary calculations.
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| 9. |
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