| 1. |
- Draptchinskaia, Natalia, et al.
(författare)
-
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
- 1999
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 21:2, s. 169-75
-
Tidskriftsartikel (refereegranskat)abstract
- Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.
|
|
| 2. |
- Erjefält, Jonas, et al.
(författare)
-
Allergen-induced eosinophil cytolysis is a primary mechanism for granule protein release in human upper airways
- 1999
-
Ingår i: American Journal of Respiratory and Critical Care Medicine. - 1535-4970. ; 160:1, s. 304-312
-
Tidskriftsartikel (refereegranskat)abstract
- Cytotoxic eosinophil granule proteins are considered important in the pathogenesis of allergic airway diseases such as rhinitis and asthma. To explore the cellular mechanisms behind eosinophil granule release in human allergic airways, 16 symptom-free patients with seasonal allergic rhinitis were challenged daily with allergen during 1 wk. Nasal lavage samples and biopsies, obtained before and 24 h after the last allergen exposure, were processed for immunohistochemical and electron microscopic analysis. The allergen challenges produced nasal symptoms, marked tissue eosinophilia, and an increase in lavage fluid levels of eosinophil cationic protein (ECP). The nasal mucosa areas with intense extracellular immunoreactivity for ECP were associated with abundant free eosinophil granules. Electron microscopy confirmed the free granules and revealed that all mucosal eosinophils were involved in granule release, either by cytolysis (33%) or piecemeal degranulation (PMD) (67%). Resting or apoptotic eosinophils were not observed. Cytolytic eosinophils had less signs of intracellular granule release (p < 0. 001) and a higher content of intact granules (p < 0.001) compared with viable eosinophils in the same tissue. This study demonstrates eosinophil cytolysis (ECL) as a distinct mechanism for granule mediator release in human allergic airway mucosa. The nature and extent of the ECL and its product (i.e., protein-laden extracellular granules) indicate that allergen-induced cytolysis is a primary and major mechanism for the release of eosinophil proteins in human allergic airway inflammation in vivo.
|
|
| 3. |
- Granlund, Rego, et al.
(författare)
-
Exploration of methodological issues in micro-world research : experiences from research in team decision making
- 2001
-
Ingår i: Proceedings to Cognitive Research With Microworlds CRWM 2001.
-
Konferensbidrag (refereegranskat)abstract
- This paper discusses methodological issues of micro-world research within the domain of dynamic decision-making. Using the C3Fire micro-world as an example, several studies are presented and discussed. It is concluded that there are several advantages of using micro-world simulations in the development of information systems, but also that there still exist fundamental problems, such as measuring team performance.
|
|
| 4. |
- Gustavsson, Peter, et al.
(författare)
-
Familial transient erythroblastopenia of childhood is associated with the chromosome
- 2002
-
Ingår i: Br J Haematol. - 0007-1048. ; 119:1, s. 261-4
-
Tidskriftsartikel (refereegranskat)abstract
- Transient erythroblastopenia of childhood (TEC) is a rare condition, which at onset may be difficult to distinguish from Diamond-Blackfan anaemia (DBA). We have previously shown that mutations in the ribosomal protein S19 gene (RPS19) cause DBA. In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.
|
|
| 5. |
|
|
| 6. |
- Johansson, Björn, et al.
(författare)
-
Visual and optical performance of the Akreos Adapt Advanced Optics and Tecnis Z9000 intraocular lenses. Swedish multicenter study
- 2007
-
Ingår i: Journal of cataract and refractive surgery. - : Ovid Technologies (Wolters Kluwer Health). - 0886-3350 .- 1873-4502. ; 33:9, s. 1565-1572
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To compare the subjective visual and objective optical performance of 2 aspherical intraocular lenses (lOLs), the Akreos Adapt Advanced Optics (AO) (Bausch & Lomb, Inc.) and the Tecnis Z9000 (Advanced Medical Optics, Inc.). SETTING: Four university hospitals in Sweden. METHODS: This study comprised 80 patients, 20 each from 4 university hospital centers in Sweden. All patients had bilateral clear corneal phacoemulsification with implantation of an Akreos Adapt AO IOL in 1 eye and Tecnis Z9000 IOL in the other eye according to a randomization protocol. Preoperatively, 90% contrast Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity was measured and the mesopic pupil sizes were determined. Ten to 12 weeks postoperatively, 12.5% and 90% contrast ETDRS visual acuities and photopic and mesopic Functional Acuity Contrast Test chart contrast sensitivities were determined. Wavefront analysis was performed with the Zywave II aberrometer (Bausch & Lomb, Inc.), and a questionnaire on the subjective quality of vision was completed by each patient. RESULTS: The Akreos AO IOL and Tecnis Z9000 IOL produced similar high- and low-contrast visual acuities as well as photopic and mesopic contrast sensitivities. The Tecnis Z9000 IOL resulted in lower spherical aberrations of the eye (mean 0.05 ± 0.13 μm versus 0.35 ± 0.13 μm root mean square, 6.0 mm pupil) (P<.001); however, the Akreos AO IOL provided a larger depth of field (mean 1.22 diopter [D] ± 0.48 [SD] versus 0.86 ± 0.50 D, 6.0 mm pupil) (P<.001). Patient satisfaction was generally high, although 68.8% of the patients reported some type of visual disturbance postoperatively. Twenty-eight percent of patients reported better subjective visual quality in the Akreos AO eye and 14%, in the Tecnis Z9000 eye (P<.0001). Accordingly, 33% perceived more visual disturbances in the Tecnis Z9000 eye and 11%, in the Akreos AO eye (P<.0001). CONCLUSIONS: Maximum reduction of spherical aberration did not maximize subjective visual quality. The higher perceived quality of vision with the Akreos AO IOL could be because of differences in depth of field, lOL material, or IOL design.
|
|
| 7. |
- Ketola, Anna, et al.
(författare)
-
"Help, I need somebody..." - Consequences of a Re-regulated Competitive Electricity Market from the Customer Perspective
- 2001
-
Ingår i: ECEEE Summer Study Proceedings.
-
Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- In 1996, the Swedish electricity market was re-regulated and if private customers wanted to change their supplier they were forced to invest in a new electricity meter with hourly metering. The cost of such a device was typically around 900 EURO. Very few customers changed their supplier at this stage. On November 1st, 1999, this requirement was abolished and replaced with load profiling allowing the private customers to change their supplier without any cost to themselves. Since then, the customers has been both subjectively and objectively bombarded with information and advertising from various electricity suppliers and other actors on the market in the form of: personally formulated letters, newsprint advertisements, media headlines as well as counselling and society based programs on television. This article is performed from an interdisciplinary perspective, with a customer focus. What consequences follow from re-regulation, for private customers? How do they handle their selection possibilities? Do they experience increased freedom and satisfaction, or do they feel confusion, insecurity and necessity to change electricity supplier? The article and the discussion are viewed from both a socio-cultural and technological viewpoint. It is interesting to gain insight into how the customer reacts and handles the consequences of the re-regulated competitive electricity market.
|
|
| 8. |
- Massinen, Satu, et al.
(författare)
-
Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons.
- 2011
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 6:6
-
Tidskriftsartikel (refereegranskat)abstract
- DCDC2 is one of the candidate susceptibility genes for dyslexia. It belongs to the superfamily of doublecortin domain containing proteins that bind to microtubules, and it has been shown to be involved in neuronal migration. We show that the Dcdc2 protein localizes to the primary cilium in primary rat hippocampal neurons and that it can be found within close proximity to the ciliary kinesin-2 subunit Kif3a. Overexpression of DCDC2 increases ciliary length and activates Shh signaling, whereas downregulation of Dcdc2 expression enhances Wnt signaling, consistent with a functional role in ciliary signaling. Moreover, DCDC2 overexpression in C. elegans causes an abnormal neuronal phenotype that can only be seen in ciliated neurons. Together our results suggest a potential role for DCDC2 in the structure and function of primary cilia.
|
|
| 9. |
- Matsson, Hans, et al.
(författare)
-
Alpha-cardiac actin mutations produce atrial septal defects.
- 2008
-
Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 17:2, s. 256-65
-
Tidskriftsartikel (refereegranskat)abstract
- Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal shunt. We identified two pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD. By genetic mapping, we identified the gene-encoding alpha-cardiac actin (ACTC1), which is essential for cardiac contraction, as the likely candidate. A mutation screen of the coding regions of ACTC1 revealed a founder mutation predicting an M123V substitution in affected individuals of both pedigrees. Functional analysis of ACTC1 with an M123V substitution shows a reduced affinity for myosin, but with retained actomyosin motor properties. We also screened 408 sporadic patients with CHDs and identified a case with ASD and a 17-bp deletion in ACTC1 predicting a non-functional protein. Morpholino (MO) knockdown of ACTC1 in chick embryos produces delayed looping and reduced atrial septa, supporting a developmental role for this protein. The combined results indicate, for the first time, that ACTC1 mutations or reduced ACTC1 levels may lead to ASD without signs of cardiomyopathy.
|
|
| 10. |
|
|
