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| 2. |
- Marganiec, C., et al.
(författare)
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Coulomb breakup of 17Ne from the viewpoint of nuclear astrophysics
- 2013
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Ingår i: Proceedings of Science.
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Konferensbidrag (refereegranskat)abstract
- By the Coulomb breakup of 17Ne, the time-reversed reaction 15O(2p,γ)17Ne has been studied. This reaction might play an important role in the rp process, as a break-out reaction of the hot CNO cycle. The secondary 17Ne ion beam with an energy of 500 MeV/nucleon has been dissociated in a Pb target. The reaction products have been detected with the LAND-R3B experimental setup at GSI. The preliminary differential and integral Coulomb dissociation cross section sCoul has been determined, which then will be converted into a photo-absorption cross section sphot o, and a two-proton radiative capture cross section σcap. Additionally, information about the structure of the 17Ne, a potential two-proton halo nucleus, will be received. The analysis is in progress.
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| 3. |
- Shekhter, Robert I., 1947, et al.
(författare)
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Electronic spin working mechanically (Review Article)
- 2014
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Ingår i: Low temperature physics. - : AIP Publishing. - 1063-777X .- 1090-6517. ; 40:7, s. 600-614
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Tidskriftsartikel (refereegranskat)abstract
- A single-electron tunneling (SET) device with a nanoscale central island that can move with respect to the bulk source- and drain electrodes allows for a nanoelectromechanical (NEM) coupling between the electrical current through the device and mechanical vibrations of the island. Although an electromechanical “shuttle” instability and the associated phenomenon of single-electron shuttling were predicted more than 15 years ago, both theoretical and experimental studies of NEM-SET structures are still carried out. New functionalities based on quantum coherence, Coulomb correlations and coherent electron-spin dynamics are of particular current interest. In this article we present a short review of recent activities in this area.
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| 4. |
- Zheleznyakova, Galina Yu, et al.
(författare)
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Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III
- 2011
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Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 12, s. 96-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Spinal muscular atrophy (SMA type I, II and III) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN1). SMN2 is a centromeric copy gene that has been characterized as a major modifier of SMA severity. SMA type I patients have one or two SMN2 copies while most SMA type II patients carry three SMN2 copies and SMA III patients have three or four SMN2 copies. The SMN1 gene produces a full-length transcript (FL-SMN) while SMN2 is only able to produce a small portion of the FL-SMN because of a splice mutation which results in the production of abnormal SMN Delta 7 mRNA. Methods: In this study we performed quantification of the SMN2 gene copy number in Russian patients affected by SMA type II and III (42 and 19 patients, respectively) by means of real-time PCR. Moreover, we present two families consisting of asymptomatic carriers of a homozygous absence of the SMN1 gene. We also developed a novel RT-qPCR-based assay to determine the FL-SMN/SMN Delta 7 mRNA ratio as SMA biomarker. Results: Comparison of the SMN2 copy number and clinical features revealed a significant correlation between mild clinical phenotype (SMA type III) and presence of four copies of the SMN2 gene. In both asymptomatic cases we found an increased number of SMN2 copies in the healthy carriers and a biallelic SMN1 absence. Furthermore, the novel assay revealed a difference between SMA patients and healthy controls. Conclusions: We suggest that the SMN2 gene copy quantification in SMA patients could be used as a prognostic tool for discrimination between the SMA type II and SMA type III diagnoses, whereas the FL-SMN/SMN Delta 7 mRNA ratio could be a useful biomarker for detecting changes during SMA pharmacotherapy.
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| 5. |
- Zheleznyakova, Galina Y., et al.
(författare)
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Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity
- 2013
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 21:9, s. 988-993
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Tidskriftsartikel (refereegranskat)abstract
- Spinal muscular atrophy (SMA) is a monogenic disorder that is subdivided into four different types and caused by survival motor neuron gene 1 (SMN1) deletion. Discordant cases of SMA suggest that there exist additional severity modifying factors, apart from the SMN2 gene copy number. Here we performed the first genome-wide methylation profiling of SMA patients and healthy individuals to study the association of DNA methylation status with the severity of the SMA phenotype. We identified strong significant differences in methylation level between SMA patients and healthy controls in CpG sites close to the genes CHML, ARHGAP22, CYTSB, CDK2AP1 and SLC23A2. Interestingly, the CHML and ARHGAP22 genes are associated with the activity of Rab and Rho GTPases, which are important regulators of vesicle formation, actin dynamics, axonogenesis, processes that could be critical for SMA development. We suggest that epigenetic modifications may influence the severity of SMA and that these novel genetic positions could prove to be valuable biomarkers for the understanding of SMA pathogenesis.
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| 6. |
- Zheleznyakova, Galina Yu, et al.
(författare)
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Methylation Levels of SLC23A2 and NCOR2 Genes Correlate with Spinal Muscular Atrophy Severity
- 2015
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 10:3
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Tidskriftsartikel (refereegranskat)abstract
- Spinal muscular atrophy (SMA) is a monogenic neurodegenerative disorder subdivided into four different types. Whole genome methylation analysis revealed 40 CpG sites associated with genes that are significantly differentially methylated between SMA patients and healthy individuals of the same age. To investigate the contribution of methylation changes to SMA severity, we compared the methylation level of found CpG sites, designed as "targets", as well as the nearest CpG sites in regulatory regions of ARHGAP22, CDK2AP1, CHML, NCOR2, SLC23A2 and RPL9 in three groups of SMA patients. Of notable interest, compared to type I SMA male patients, the methylation level of a target CpG site and one nearby CpG site belonging to the 5'UTR of SLC23A2 were significantly hypomethylated 19-22% in type III-IV patients. In contrast to type I SMA male patients, type III-IV patients demonstrated a 16% decrease in the methylation levels of a target CpG site, belonging to the 5'UTR of NCOR2. To conclude, this study validates the data of our previous study and confirms significant methylation changes in the SLC23A2 and NCOR2 regulatory regions correlates with SMA severity.
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