| 1. |
- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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| 2. |
- Ching, Yung-Hao, et al.
(författare)
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High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5
- 2010
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Ingår i: BMC Genetics. - : Springer Science and Business Media LLC. - 1471-2156. ; 11, s. 106-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Forward genetic screens in mice provide an unbiased means to identify genes and other functional genetic elements in the genome. Previously, a large scale ENU mutagenesis screen was conducted to query the functional content of a similar to 50 Mb region of the mouse genome on proximal Chr 5. The majority of phenotypic mutants recovered were embryonic lethals. Results: We report the high resolution genetic mapping, complementation analyses, and positional cloning of mutations in the target region. The collection of identified alleles include several with known or presumed functions for which no mutant models have been reported (Tbc1d14, Nol14, Tyms, Cad, Fbxl5, Haus3), and mutations in genes we or others previously reported (Tapt1, Rest, Ugdh, Paxip1, Hmx1, Otoe, Nsun7). We also confirmed the causative nature of a homeotic mutation with a targeted allele, mapped a lethal mutation to a large gene desert, and localized a spermiogenesis mutation to a region in which no annotated genes have coding mutations. The mutation in Tbc1d14 provides the first implication of a critical developmental role for RAB-GAP-mediated protein transport in early embryogenesis. Conclusion: This collection of alleles contributes to the goal of assigning biological functions to all known genes, as well as identifying novel functional elements that would be missed by reverse genetic approaches.
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| 3. |
- Liu, X. D., et al.
(författare)
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Origin and expansion of the world's most widespread pinniped: Range-wide population genomics of the harbour seal (Phoca vitulina)
- 2022
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Ingår i: Molecular Ecology. - : Wiley. - 0962-1083 .- 1365-294X. ; 31:6, s. 1682-1699
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Tidskriftsartikel (refereegranskat)abstract
- The harbour seal (Phoca vitulina) is the most widely distributed pinniped, occupying a wide variety of habitats and climatic zones across the Northern Hemisphere. Intriguingly, the harbour seal is also one of the most philopatric seals, raising questions as to how it colonized its current range. To shed light on the origin, remarkable range expansion, population structure and genetic diversity of this species, we used genotyping-by-sequencing to analyse similar to 13,500 biallelic single nucleotide polymorphisms from 286 individuals sampled from 22 localities across the species' range. Our results point to a Northeast Pacific origin of the harbour seal, colonization of the North Atlantic via the Canadian Arctic, and subsequent stepping-stone range expansions across the North Atlantic from North America to Europe, accompanied by a successive loss of genetic diversity. Our analyses further revealed a deep divergence between modern North Pacific and North Atlantic harbour seals, with finer-scale genetic structure at regional and local scales consistent with strong philopatry. The study provides new insights into the harbour seal's remarkable ability to colonize and adapt to a wide range of habitats. Furthermore, it has implications for current harbour seal subspecies delineations and highlights the need for international and national red lists and management plans to ensure the protection of genetically and demographically isolated populations.
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| 4. |
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| 5. |
- Tatovic, D, et al.
(författare)
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Safety of the use of gold nanoparticles conjugated with proinsulin peptide and administered by hollow microneedles as an immunotherapy in type 1 diabetes
- 2022
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Ingår i: Immunotherapy Advances. - : Oxford University Press (OUP). - 2732-4303. ; 2:1
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Tidskriftsartikel (refereegranskat)abstract
- Antigen-specific immunotherapy is an immunomodulatory strategy for autoimmune diseases, such as type 1 diabetes, in which patients are treated with autoantigens to promote immune tolerance, stop autoimmune β-cell destruction and prevent permanent dependence on exogenous insulin. In this study, human proinsulin peptide C19-A3 (known for its positive safety profile) was conjugated to ultrasmall gold nanoparticles (GNPs), an attractive drug delivery platform due to the potential anti-inflammatory properties of gold. We hypothesised that microneedle intradermal delivery of C19-A3 GNP may improve peptide pharmacokinetics and induce tolerogenic immunomodulation and proceeded to evaluate its safety and feasibility in a first-in-human trial. Allowing for the limitation of the small number of participants, intradermal administration of C19-A3 GNP appears safe and well tolerated in participants with type 1 diabetes. The associated prolonged skin retention of C19-A3 GNP after intradermal administration offers a number of possibilities to enhance its tolerogenic potential, which should be explored in future studies.
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| 8. |
- Godbolt, Alison K., et al.
(författare)
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Disorders of consciousness : Preliminary data supports added value of extended behavioural assessment
- 2012
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Ingår i: Brain Injury. - : Informa UK Limited. - 0269-9052 .- 1362-301X. ; 26:2, s. 188-193
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Tidskriftsartikel (refereegranskat)abstract
- Background: The use of validated behavioural assessment scales in assessment of patients with Disorders of Consciousness (DOC) is well established. However, there is little evidence to guide decisions on total time spent in behavioural assessment. Objective: To assess whether brief behavioural assessment was as effective as extended behavioural assessment in detecting non-vegetative behaviours. Methods: Consecutive patients with suspected DOC were assessed with two standardized instruments: Coma Recovery Scale Revised (CRS-R) and Sensory Modality Assessment and Rehabilitation Technique (SMART). Assessors were blinded to results from the other scale at the point of assessment. Two administrations of CRS-R together took 50-60 minutes ('brief' assessment). One complete SMART assessment took 600 minutes ('extended' assessment). Patients were classified as being in a vegetative state (VS) or minimally conscious state (MCS)/emerged from minimally conscious state (EMCS), following brief and extended assessment. Results: Ten patients were assessed. Brief and extended assessment yielded the same diagnostic category (VS or MCS) for six patients and different categories for four, with extended assessment detecting higher level behaviours. Conclusions: Brief behavioural assessment was not as effective as extended assessment in detecting non-vegetative behaviours. Total time spent in behavioural assessment is likely important. Further studies and clearer clinical guidance are needed.
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| 9. |
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| 10. |
- Godbolt, Alison K., et al.
(författare)
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Opportunity for Inpatient Brain Injury Rehabilitation for Persons in a Vegetative State Survey of Swedish Physicians
- 2011
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Ingår i: American Journal of Physical Medicine & Rehabilitation. - 0894-9115 .- 1537-7385. ; 90:6, s. 482-489
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The aim of this study was to document physicians' opinions on inpatient rehabilitation care for working-age patients in vegetative state after new acquired brain injury, given the absence of an established standard of post-acute care. Design: A postal survey of 3259 Swedish physicians was conducted. Results: Survey response rate was 33%. Of survey respondents, 51% reported that they knew the definition of vegetative state. Transfer of vegetative patients from acute care to inpatient rehabilitation was considered always warranted by 54% and never or only sometimes warranted by 31% of survey respondents, whereas 15% did not know or did not answer. Rehabilitation physicians most often considered an inpatient rehabilitation stay of around 3 mos to be appropriate, but there was a lack of consensus. Discharge from acute care direct to social care at least sometimes was reported by 39% of physicians. Conclusions: Physicians' opinions vary considerably on appropriate post-acute care for patients in vegetative state after acquired brain injury. This may impact on rates of referral and admission to rehabilitation units. Consensus is needed on a minimum period for and extent of rehabilitation interventions. Educational interventions should be targeted broadly to reach the wide range of specialties that may have responsibility for acute care of these patients.
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