| 1. |
- Andersson, Lars-Göran, et al.
(författare)
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Thallium-201 Myocardial Imaging at Rest in Male Orienteers and Other Endurance Athletes
- 2001
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Ingår i: Upsala Journal of Medical Sciences. - : Uppsala Medical Society. - 0300-9734 .- 2000-1967. ; 106:1, s. 59-66
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Tidskriftsartikel (refereegranskat)abstract
- During the period 1979 to 1992, 16 sudden unexpected cardiac deaths were known to have occurred in young Swedish orienteers. Autopsy indicated myocarditis to be the most frequent finding, most often combined with extensive myocardial fibrosis. The aim of the present investigation was to explore whether young male orienteers show a higher frequency than other young elite endurance athletes (controls) in the occurrence of Thallium-201 myocardial perfusion defects at rest, suggestive of fibrosis evoked by myocarditis. Thallium-201 perfusion abnormalities at rest were more frequently found in the controls than in the orienteers (26% vs. 12%, p=0.03). Uneven Tl-201 perfusion was associated with left ventricular mass (r=0.32, r=0.24, p<0.01, p=0.02) and body weight (r=0.30, r=0.31, p<0.01, p=0.03) in orienteers and controls, respectively. Echocardiographic left ventricular wall motion abnormalities were found in 11 athletes (9 orienteers and 2 controls) but only two displayed an abnormal Thallium-201 perfusion scan at rest. Perfusion abnormalities at rest did not occur more frequently in the orienteers but were commonly found in both groups of apparently healthy athletes making it futile to discern abnormals from normals. Thallium-201 perfusion aberrations were not associated with left ventricular wall motion abnormalities obtained by echocardiography.
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| 2. |
- Andersson, Leif, et al.
(författare)
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ZBED6 : the birth of a new transcription factor in the common ancestor of placental mammals
- 2010
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Ingår i: Transcription. - : Informa UK Limited. - 2154-1272 .- 2154-1264. ; 1:3, s. 144-148
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Tidskriftsartikel (refereegranskat)abstract
- A DNA transposon integrated into -the genome of a primitive mammal some 200 million years ago and, millions of years later, it evolved an essential function in the common ancestor of all placental mammals. This protein, now named ZBED6, was recently discovered because a mutation disrupting one of its binding sites, in an intron of the IGF2 gene, makes pigs grow more muscle. These findings have revealed a new mechanism for regulating muscle growth as well as a novel transcription factor that appears to be of major importance for transcriptional regulation in placental mammals.
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| 3. |
- Baranowska, Izabella, et al.
(författare)
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Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene
- 2009
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 5:5, s. e1000499-
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Tidskriftsartikel (refereegranskat)abstract
- Sensory ataxic neuropathy (SAN) is a recently identified neurological disorder in golden retrievers. Pedigree analysis revealed that all affected dogs belong to one maternal lineage, and a statistical analysis showed that the disorder has a mitochondrial origin. A one base pair deletion in the mitochondrial tRNA(Tyr) gene was identified at position 5304 in affected dogs after re-sequencing the complete mitochondrial genome of seven individuals. The deletion was not found among dogs representing 18 different breeds or in six wolves, ruling out this as a common polymorphism. The mutation could be traced back to a common ancestor of all affected dogs that lived in the 1970s. We used a quantitative oligonucleotide ligation assay to establish the degree of heteroplasmy in blood and tissue samples from affected dogs and controls. Affected dogs and their first to fourth degree relatives had 0-11% wild-type (wt) sequence, while more distant relatives ranged between 5% and 60% wt sequence and all unrelated golden retrievers had 100% wt sequence. Northern blot analysis showed that tRNA(Tyr) had a 10-fold lower steady-state level in affected dogs compared with controls. Four out of five affected dogs showed decreases in mitochondrial ATP production rates and respiratory chain enzyme activities together with morphological alterations in muscle tissue, resembling the changes reported in human mitochondrial pathology. Altogether, these results provide conclusive evidence that the deletion in the mitochondrial tRNA(Tyr) gene is the causative mutation for SAN.
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| 4. |
- Bombarda, F., et al.
(författare)
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Runaway electron beam control
- 2019
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Ingår i: Plasma Physics and Controlled Fusion. - : IOP Publishing. - 1361-6587 .- 0741-3335. ; 61:1
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Tidskriftsartikel (refereegranskat)
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| 5. |
- Damm, S., et al.
(författare)
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Wall motion abnormalities in male elite orienteers are aggravated by exercise
- 1999
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Ingår i: Clinical Physiology. - : Wiley. - 0144-5979 .- 1365-2281. ; 19:2, s. 121-126
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Tidskriftsartikel (refereegranskat)abstract
- During the period 1979-92, 16 (15 men and one woman) sudden unexpected cardiac deaths occurred among young Swedish orienteers. This finding indicated a sharp increase in the death rate of orienteers, and necropsy demonstrated that myocarditis was a common histopathological finding. Therefore, an extensive non-invasive cardiac investigation was performed. A total of 59 male élite orienteers (mean age 23 years) and 36 cross-country skiers and middle-distance runners (mean age 22 years), serving as controls, were examined by both echocardiography at rest and radionuclide ventriculography at rest and during exercise. Wall motion abnormalities were found in eight orienteers using echocardiography. The purpose of this study was to examine whether the group of orienteers with wall motion abnormalities found using echocardiography had a smaller increase in ejection fraction from rest to exercise using radionuclide ventriculography than the rest of the orienteers and the controls, indicating an aggravation of the wall motion abnormalities during exercise. There were no significant differences in the ejection fraction at rest between the groups. In the orienteers with wall motion abnormalities (group 1), 62% (five out of eight) had less than a 0.05 unit increase in left ventricular ejection fraction compared with 27% (14 out of 51) of the remaining orienteers (group 2) and 19% (7 out of 36) of the controls (group 3). A comparison of athletes in group 1 with those in groups 2 and 3 combined revealed a statistically significant difference (P < 0.05). The divergent response in left ventricular ejection fraction during exercise suggests an aggravation of the wall motion abnormalities with exercise. Both the echocardiographic and the radionuclide ventriculographic findings indicate that the orienteers in group 1 had concealed left ventricular damage.
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| 6. |
- Lindahl, Göran, et al.
(författare)
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Stavanger : Innerstaden - Utvecklingshistoria och Utvecklingsmöjligheter
- 1972
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Rapport (populärvet., debatt m.m.)abstract
- Föreliggande arbete bör inte uppfattas som något slags generalplan eller dispositionsplan utan snarare som en presentation av ett synsätt, som konkretiserats på ett antal fritt valda områden. Framställningen har två tyngdpunkter. Stort intresse har ägnats det historiska perspektivet. Syftet har varit att besvara frågan: Varför ser Stavanger ut som det gör? Varför skiljer sig denna stad så mycket från jämförbara orter i Sverige? De svar som ges för över till bokens huvudtema, frågan hur den befintliga bebyggelsen skall användas i framtiden. Bakom ligger en grundsyn som uppfattar rivning och nybyggande som åtgärder i sista hand, underhåll, upprustning och ombyggnad som det normala, något som kan sträckas ut generation eftel" generation.
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| 7. |
- Markljung, Ellen, 1978-
(författare)
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QTL Analysis in the Pig : From the Identification of Quantitative Trait Loci to the Understanding of Molecular Mechanisms
- 2009
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Domestic pigs have become very different form the wild ancestors they originate from. Selection for muscle growth and meat quality has made the pig a good model for genetic studies of muscle development.The first part of this thesis presents a genome-wide scan for quantitative trait loci (QTL) in a cross between Landrace and Hampshire pigs. Traits such as body composition, fat deposition, body length, meat quality and weight measurements of individual muscles were investigated. In total we identified 15 different QTLs that reached genome-wide significance. The three most significant QTLs were for carcass length on chromosome 17 and two overlapping QTLs on chromosome 1 for body composition and weight of M. biceps femoris, respectively. A strong candidate gene for the body composition QTL is melanocortin 4 receptor (MC4R). We also identified several QTLs for sizes of different muscles, fat deposition and meat quality traits.In a previous study using a cross between the domestic Large White and wild boar, the mutation underlying a major QTL for muscle growth and fat deposition was identified as a single nucleotide substitution (QTN) in intron 3 of the IGF2 gene. The QTN disrupts the binding of a repressor affecting IGF2 mRNA expression. In the second part of this thesis, the identification of the repressor is presented. The repressor, named ZBED6, is a previously unknown mammalian member of the BED-domain protein family. We could show that Zbed6 specifically binds the wild-type but not the mutated sequence surrounding the QTN. Further studies of silenced Zbed6 in the mouse myoblast cell line C2C12 showed that it represses transcription in a luciferase reporter assay and affects Igf2 mRNA transcription and proliferation. ZBED6 shows very high sequence conservation and has a broad tissue distribution of expression suggesting that ZBED6 also has important biological function outside the muscle cell.
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| 8. |
- Markljung, Ellen, et al.
(författare)
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ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth
- 2009
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Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 7:12, s. e1000256-
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Tidskriftsartikel (refereegranskat)abstract
- A single nucleotide substitution in intron 3 of IGF2 in pigs abrogates a binding site for a repressor and leads to a 3-fold up-regulation of IGF2 in skeletal muscle. The mutation has major effects on muscle growth, size of the heart, and fat deposition. Here, we have identified the repressor and find that the protein, named ZBED6, is previously unknown, specific for placental mammals, and derived from an exapted DNA transposon. Silencing of Zbed6 in mouse C2C12 myoblasts affected Igf2 expression, cell proliferation, wound healing, and myotube formation. Chromatin immunoprecipitation (ChIP) sequencing using C2C12 cells identified about 2,500 ZBED6 binding sites in the genome, and the deduced consensus motif gave a perfect match with the established binding site in Igf2. Genes associated with ZBED6 binding sites showed a highly significant enrichment for certain Gene Ontology classifications, including development and transcriptional regulation. The phenotypic effects in mutant pigs and ZBED6-silenced C2C12 myoblasts, the extreme sequence conservation, its nucleolar localization, the broad tissue distribution, and the many target genes with essential biological functions suggest that ZBED6 is an important transcription factor in placental mammals, affecting development, cell proliferation, and growth.
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| 9. |
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| 10. |
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- 2018
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Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 58:9
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Tidskriftsartikel (refereegranskat)
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