| 1. |
- Baranowska Körberg, Izabella, et al.
(författare)
-
A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs
- 2014
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:8, s. e104363-
-
Tidskriftsartikel (refereegranskat)abstract
- The white spotting locus (S) in dogs is colocalized with the MITF (microphtalmia-associated transcription factor) gene. The phenotypic effects of the four S alleles range from solid colour (S) to extreme white spotting (s(w)). We have investigated four candidate mutations associated with the s(w) allele, a SINE insertion, a SNP at a conserved site and a simple repeat polymorphism all associated with the MITF-M promoter as well as a 12 base pair deletion in exon 1B. The variants associated with white spotting at all four loci were also found among wolves and we conclude that none of these could be a sole causal mutation, at least not for extreme white spotting. We propose that the three canine white spotting alleles are not caused by three independent mutations but represent haplotype effects due to different combinations of causal polymorphisms. The simple repeat polymorphism showed extensive diversity both in dogs and wolves, and allele-sharing was common between wolves and white spotted dogs but was non-existent between solid and spotted dogs as well as between wolves and solid dogs. This finding was unexpected as Solid is assumed to be the wild-type allele. The data indicate that the simple repeat polymorphism has been a target for selection during dog domestication and breed formation. We also evaluated the significance of the three MITF-M associated polymorphisms with a Luciferase assay, and found conclusive evidence that the simple repeat polymorphism affects promoter activity. Three alleles associated with white spotting gave consistently lower promoter activity compared with the allele associated with solid colour. We propose that the simple repeat polymorphism affects cooperativity between transcription factors binding on either flanking sides of the repeat. Thus, both genetic and functional evidence show that the simple repeat polymorphism is a key regulator of white spotting in dogs.
|
|
| 2. |
- Bjerg, Anders, et al.
(författare)
-
Shorter time to clinical decision in work-related asthma using a digital tool
- 2020
-
Ingår i: ERJ open research. - Lausanne, Switzerland : European Respiratory Society (ERS). - 2312-0541. ; 6:3
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- PEF curves are a useful but cumbersome tool in diagnosing work-related asthma. Using a digital spirometer and smartphone app, time to clinical decision could be shortened by 6-7 weeks. Physician's time spent analysing PEF data is also shortened.
|
|
| 3. |
- Haghighi, Mona, et al.
(författare)
-
A Comparison of Rule-based Analysis with Regression Methods in Understanding the Risk Factors for Study Withdrawal in a Pediatric Study
- 2016
-
Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6
-
Tidskriftsartikel (refereegranskat)abstract
- Regression models are extensively used in many epidemiological studies to understand the linkage between specific outcomes of interest and their risk factors. However, regression models in general examine the average effects of the risk factors and ignore subgroups with different risk profiles. As a result, interventions are often geared towards the average member of the population, without consideration of the special health needs of different subgroups within the population. This paper demonstrates the value of using rule-based analysis methods that can identify subgroups with heterogeneous risk profiles in a population without imposing assumptions on the subgroups or method. The rules define the risk pattern of subsets of individuals by not only considering the interactions between the risk factors but also their ranges. We compared the rule-based analysis results with the results from a logistic regression model in The Environmental Determinants of Diabetes in the Young (TEDDY) study. Both methods detected a similar suite of risk factors, but the rule-based analysis was superior at detecting multiple interactions between the risk factors that characterize the subgroups. A further investigation of the particular characteristics of each subgroup may detect the special health needs of the subgroup and lead to tailored interventions.
|
|
| 4. |
|
|
| 5. |
- Salmon Hillbertz, Nicolette H. C., et al.
(författare)
-
Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:11, s. 1318-1320
-
Tidskriftsartikel (refereegranskat)abstract
- The dorsal hair ridge in Rhodesian and Thai Ridgeback dogs is caused by a dominant mutation that also predisposes to the congenital developmental disorder dermoid sinus. Here we show that the causative mutation is a 133-kb duplication involving three fibroblast growth factor (FGF) genes. FGFs play a crucial role in development, suggesting that the ridge and dermoid sinus are caused by dysregulation of one or more of the three FGF genes during development.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
- Ahlmén, Monica, 1937, et al.
(författare)
-
Rheumatology outcomes: the patient's perspective. A multicenter focus group inteview study of Swedish rheumatoid arthritis patients.
- 2005
-
Ingår i: Rheumatology. - : Oxford University Press (OUP). - 1460-2172 .- 1462-0324 .- 1462-0332. ; 44:1, s. 105-110
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives. Patients with rheumatoid arthritis (RA) and clinicians have different views about benefits from treatments. More knowledge is needed about how patients assess outcomes in order to update current measurements. Methods. Focus group interviews were performed at four Swedish rheumatology clinics. A total of 25 patients with RA were included, representing a wide range of ages and disease duration. Predetermined topics relating to important outcomes from and satisfaction/dissatisfaction with RA treatments were discussed. Results. The participants’ initial outcome assessments included physical and psychosocial items, which comprised overall treatment goals such as impairment in social roles, fatigue, daily activities and self-confidence. The identified themes were ‘Normal life’, ‘Physical capacity’, ‘Independence’ and ‘Well-being’. Satisfaction with treatment was associated with the quality of communication between staff and the patient. The participants assumed this as a prerequisite for a treatment to work. Patients wanted to be accepted as experts on their own bodies, and expected all clinicians to be experts on RA. This made it possible for patients to ‘take charge’ of their life situation. Good resources for and access to rheumatology care were desired. Conclusions. Suggesting a holistic approach to rheumatology care, the study results indicate that the illness and outcomes have to be evaluated within an individual RA patient's total life situation, described in the identified themes: ‘Normal life’, ‘Physical capacity’, ‘Independence’ and ‘Well-being’. Development and validation of measurements covering these issues is suggested. More research is needed about communication and how patients experience their roles in the rheumatology clinic.
|
|
| 10. |
- Ahlstrand, Elisabeth, et al.
(författare)
-
Erfarna lärares engagemang : livsberättelser som retrospektiv reflektion
- 2008. - 1
-
Ingår i: Läraren i blickpunkten<em> </em>. - Stockholm : Lärarförbundets Förlag. - 9789197659895 - 9197659894 ; , s. 189-205
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Lärares arbete är komplext och kan beskrivas på olika sätt beroende på vilken utgångspunkt man väljer. I takt med att det ställs allt högre krav på lärare att utgå från en vetenskaplig bas i arbetet, behövs också fler redskap och begrepp för att förstå och förklara läraryrket. Hur ser arbetsprocesserna ut? Vad formar yrket? Vilka insatser kan göras för att förbättra verksamheten? Den här antologin presenterar femton sätt att se på lärares liv och arbete med hjälp av olika teoretiska perspektiv.Boken vänder sig till lärare och blivande lärare samt till alla som är intresserade av kunskapsutvecklingen kring lärares arbete.
|
|
