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- Pettersson, Ulf
(författare)
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Människoraser, finns dom?
- 2009
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Ingår i: Rasen och vetenskapen. - Uppsala : Centrum för multietnisk forskning / Programmet för studier kring Förintelsen och folkmord. - 9789197743426 ; , s. 13-22
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Föredrag från föreläsningsserien Rasen och vetenskapen vid Uppsala universitet våren 2008. Artikeln av professorn i medicinsk genetik Ulf Pettersson (Uppsala) behandlar rasbegreppets ställning i människans utvecklingshistoria inom genetiken.
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| 2. |
- Gustafson, Deborah R.
(författare)
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Adipose Tissue Complexities in Dyslipidemias
- 2019
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Ingår i: Dyslipidemia. - London : IntechOpen. - 9781839680045 - 9781839680038 - 9781839680052 ; , s. 1-22
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Bokkapitel (refereegranskat)abstract
- Adipose tissue is the largest organ in the human body and, in excess, contributes to dyslipidemias and the dysregulation of other vascular and metabolic processes. Adipose tissue is heterogeneous, comprised of several cell types based on morphology, cellular age, and endocrine and paracrine function. Adipose tissue depots are also regional, primarily due to sex differences and genetic variation. Adipose tissue is also characterized as subcutaneous vs. visceral. In addition, fatty deposits exist outside of adipose tissue, such as those surrounding the heart, or as infiltration of skeletal muscle. This review focuses on adipose tissue and its contribution to dyslipidemias. Dyslipidemias are defined as circulating blood lipid levels that are too high or altered. Lipids include both traditional and nontraditional species. Leaving aside traditional definitions, adipose tissue contributes to dyslipidemias in a myriad of ways. To address a small portion of this topic, we reviewed (a) adipose tissue location and cell types, (b) body composition, (c) endocrine adipose, (d) the fat-brain axis, and (e) genetic susceptibility. The influence of these complex aspects of adipose tissue on dyslipidemias and human health, illustrating that, once again, that adipose tissue is a quintessential, multifunctional tissue of the human body, will be summarized.
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| 5. |
- Wadelius, Claes, 1955-
(författare)
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Integrating genome and epigenome in human disease
- 2009
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Ingår i: Epigenomics. - Dordrecht : Springer Science+Business Media B.V.. - 9781402091865 - 9781402091872 ; , s. 343-368
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Transcription factors (TFs) and the core components of the epigenome, DNA methylation and histone modifications interact in the epigenetic machinery. Expression of key three-four selected transcription factors can dedifferentiate differentiated cells into induced pluripotent stem cells with a totally distinct epigenome. Out of the around 2,000 nuclear proteins, around 350 are known to cause disease when mutated. The conditions range from rare syndromes to common diseases. Mutations are found in all components of the epigenetic machinery, e.g. proteins mediating DNA methylation and those binding to methylated cytosine, histone proteins and enzymes adding or removing modifications to histone tails, those binding to the modifications as well as proteins in the basal transcription machinery. Sequence specific transcription factors are the most abundant nuclear proteins and mutations in them cause a wide range of diseases affecting different organs in the developing or mature organism. Even if a mutated protein is present in most or all cell-types, a specific disease is often found only in one or a few types. The reason for this is unclear and an interesting topic for future research. One hypothesis is that the disease is caused by the mutated protein interacting with other tissue restricted proteins. Technical breakthroughs like chromatin immunoprecipitation and analysis on next generation sequencers (ChIP-seq) mean that these processes can be systematically studied.
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| 6. |
- Munthe, Christian, 1962
(författare)
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Preimplantation Genetic Diagnosis: Ethical Aspects
- 2006
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Ingår i: Encyclopedia of Life Sciences. - Chichester, UK : John Wiley & Sons.
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- In preimplantation genetic diagnosis, genetic traits of embryos are detected before the initiation of pregnancy. Although tampering with embryos is morally controversial, this procedure may seem to reduce ethical problems in prenatal diagnosis by offering the possibility of selecting offspring, on the basis of genetic information, more efficiently and without any need to consider abortion. However, counseling of patients becomes more complicated, and the procedure may seem to make the outside influence of their decisions easier to both achieve and justify. As a consequence, preimplantation genetic diagnosis raises concerns about the connection between the preselection of children on genetic grounds and the discrimination of disabled people. Moreover, it introduces the new ethical problem of whether or not the selection of future children on the basis of nonpathological traits should be acceptable practice.
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| 7. |
- Munthe, Christian, 1962
(författare)
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Preimplantation Genetic Diagnosis: Ethical Aspects
- 2007
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Ingår i: Encyclopedia of Life Sciences. - Chichester, UK : John Wiley & Sons. - 9780470066515
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- In preimplantation genetic diagnosis, genetic traits of embryos are detected before the initiation of pregnancy. Although tampering with embryos is morally controversial, this procedure may seem to reduce ethical problems in prenatal diagnosis by offering the possibility of selecting offspring, on the basis of genetic information, more efficiently and without any need to consider abortion. However, counseling of patients becomes more complicated, and the procedure may seem to make the outside influence of their decisions easier to both achieve and justify. As a consequence, preimplantation genetic diagnosis raises concerns about the connection between the preselection of children on genetic grounds and the discrimination of disabled people. Moreover, it introduces the new ethical problem of whether or not the selection of future children on the basis of nonpathological traits should be acceptable practice.
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| 10. |
- Munthe, Christian, 1962
(författare)
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Genetic Treatment and Preselection. Ethical Similarities and Differences
- 1999
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Ingår i: Nordgren, A (ed.), Gene Therapy and Ethics, Studies in Bioethics and Research Ethics No. 4, Uppsala 1999: Acta Universitatis Upsaliensis. - Uppsala : Acta Universitatis Upsaliensis. - 915544640X ; , s. 159-173
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Medical genetic interventions can be performed in two ways. First, genetic defects may be repaired (gene therapy). Secondly, a possible future individual (an embryo or a possible combination of gametes) may be preselected because of its favourable genetic make-up (by using genetic diagnostic methods and procedures from reproductive medicine so called Preimplantation Genetic Diagnosis). The first kind of intervention means that someone gets medical treatment in the normal sense, however, the second kind does not. Rather, in that case, the potential patient is exchanged for another individual who is in no need of treatment. The paper explores to what extent arguments for and against these kinds of genetic intervention apply equally to all of them. For example, may the benefits that can be achieved through gene therapy be equally well achieved through genetic preselection? Are fears of a resurrection of eugenic practices through gene technology more warranted regarding therapeutic interventions than regarding preselective ones (or vice versa)? Since genetic preselection is an intervention at the germ-line level and is presently clinically applied: How is it possible to motivate that clinical application of germ-line gene therapy is not similarily permitted?
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