| 1. |
- Kohl, S, et al.
(författare)
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- 2005
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
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Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
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| 5. |
- Andersson, Thorvald, 1946, et al.
(författare)
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Preparation and characterization of the ITO surface and the Al/Alq3/ITO heterostructure for OLEDs
- 2007
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Ingår i: Materials Science and Engineering B. ; 145, s. 48-56
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Tidskriftsartikel (refereegranskat)abstract
- We have made a detailed investigation of structure and chemical composition in thermally grown Al/Alq3/ITO layer structures intended for light emission. The different parts of the structure were studied by X-ray photoelectron spectroscopy and microscopical techniques. The indium tinoxide substrate surface consisted of grains 20–50 nm in diameter and about 5 nm in height, which also showed molecular sized sub-grain features. Due to the ambient the ITO surface was covered by a 1 nm thick hydrocarbon layer which serves as the actual surface on which an organic layer is deposited for device fabrication. A structural model for the indium tin oxide surface, on which the small molecules were deposited, was suggested. The substrate surface was treated to study the relation between the surface manipulation and the hole injection barrier. Such surface modification significantly improved the performance of a single layer Alq3 organic light emitting diode. Depth profiling of the complete structure, revealed that the aluminium contact mostly consisted of aluminium oxide with some intermixing of carbon. Further, variations of the atomic concentration of the elements In, Sn, C and O and a minor shift in their binding energies were measured. Both, position and shape of the oxygen and indium peaks were changed during argon ion sputtering. At the Alq3/ITO interface an indium–oxygen compound, different from that on the original surface, hadformed. Various effects of the compositional findings on the light emission are discussed.
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| 6. |
- Andreasson, B., et al.
(författare)
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Determination of fibre pore structure : influence of salt, pH and conventional wet strength resins
- 2005
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Ingår i: Cellulose. - : Springer Science and Business Media LLC. - 0969-0239 .- 1572-882X. ; 12:3, s. 253-265
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Tidskriftsartikel (refereegranskat)abstract
- It has been shown, in the present investigation, that the two methods used to investigate the pore size distribution of unbleached chemical pulps, i.e. inverse size exclusion chromatography (ISEC) and nuclear magnetic resonance (NMR), give different average pore radius for the pores inside the fibre wall. This is due to the way in which these experiments are performed and the sensitivity of the methods to different types of pores in the cell wall. It was also shown that the two methods gave different results when changing the pH and the ionic strength of the pulp suspension. The pore radius, as detected with ISEC, decreased with both increasing ionic strength and decreasing pH, indicating a loose structure of the exterior of the fibrillar network. However, the pore radius as detected with NMR, was virtually unaffected when increasing the ionic strength, indicating a very rigid structure of the interior of the fibre wall. Decreasing pH though, lead to a decrease in pore radius indicating that upon protonation of the carboxylic groups in the fibre wall, the electrostatic repulsion is diminished and the average pore radius decreases. The NMR technique was also used to study wet strength aid penetration into the fibre wall. It was shown that wet strength aids with a small molecular weight, penetrated the fibre wall, as detected by a decrease in pore radius. It was also shown that addition of different wet strength aids increased the tensile index of the sheet and decreased the fibre strength, measured as zero span-strength of the sheets.
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| 7. |
- Andreasson, B, et al.
(författare)
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Management of patients with polycythaemia vera: results of a survey among Swedish haematologists
- 2005
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Ingår i: European Journal of Haematology. - : Wiley. - 1600-0609 .- 0902-4441. ; 74:6, s. 489-495
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Tidskriftsartikel (refereegranskat)abstract
- The prevailing attitudes regarding diagnostic and therapeutic procedures in patients with polycythaemia vera (PV) among Swedish haematologists were surveyed by way of a mailed questionnaire in August 2002. Among diagnostic procedures frequent use is reported for arterial O-2 saturation, spleen size determination, bone marrow histology, serum erythropoietin, serum cobalamins and leukocyte alkaline phosphatase score, while direct determination of the red blood cell mass is used infrequently (seldom or never by 82%). Among therapeutic modalities hydroxyurea and phlebotomy alone were most frequently used. The P-32 therapy was used at least sometimes by 57% of the physicians, and more widely in the university clinics. Anagrelide and alfa-interferon was used in a minority of patients only. The use of prophylactic acetylsalicylic acid was very variable. The majority of the physicians had an aim for their phlebotomy treatment at a level of 0.45 or less, but 21% used a level of 0.46-0.49 and 8% a level of 0.55-0.60 (in younger patients). The platelet level, at which myelosuppressive therapy was initiated, also varied, from 400 x 10(9)/L to > 1500 x 10(9)/L. It can be concluded that in practical clinical work in Sweden the diagnosis of PV is established by frequent use of serum erythropoietin, bone marrow examination and spleen size determination. The use of different therapeutic modalities is very variable. Many physicians carry out their phlebotomy treatment with less intensity compared with national and international recommendations.
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| 9. |
- Andreasson, Björn Pererik, 1979-, et al.
(författare)
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Detecting oxygen vacancies in SrTiO3 by 3d transition-metal tracer ions
- 2009
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - College Park, MD : American Physical Society. - 1098-0121 .- 1550-235X. ; 80:21, s. Article number: 212103-
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Tidskriftsartikel (refereegranskat)abstract
- X-ray absorption experiments on 3d transition-metal tracer ions in SrTiO3 are presented. The absorption spectra of the tracer-ion changed upon reduction in the SrTiO3. This change is due to an oxygen vacancy created at the tracer-ion site. This finding is supported by density-functional theory calculations, which prove that the oxygen vacancies preferentially are created at the tracer-ion sites. Using the chemical sensitivity of x-ray absorption spectroscopy, tracer ions can be used to detect oxygen vacancies in SrTiO3 and possibly in other oxide systems. © 2009 The American Physical Society.
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| 10. |
- Andreasson, Björn Pererik, 1979-, et al.
(författare)
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Resistive switching in Cr-doped SrTiO3 : An X-ray absorption spectroscopy study
- 2007
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Ingår i: Materials Science & Engineering. - Amsterdam : Elsevier. - 0921-5107 .- 1873-4944. ; 144:1-3, s. 60-63
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Tidskriftsartikel (refereegranskat)abstract
- X-ray absorption spectroscopy was used to study the microscopic origin of conductance and resistive switching in chromium-doped strontium titanate (Cr:SrTiO3). Differences in the X-ray absorption near edge spectroscopy (XANES) at the Cr K-edge indicate that the valence of Cr changes from 3+ to 4+ underneath the anode of our sample device after the application of an electric field. Spatially resolved X-ray fluorescence microscopy (μ-XRF) maps show that the Cr4+ region retracts from the anode-Cr:SrTiO3 interface after a conducting state has been achieved. This interface region is studied with extended X-ray absorption fine structure (EXAFS) and the results are compared with structural parameters obtained from density functional theory (DFT) calculations. They confirm that oxygen vacancies which are localized at the octahedron with a Cr at its center are introduced at the interface. It is proposed that the switching state is not due to a valence change of chromium but caused by changes of oxygen vacancies at the interface. © 2007 Elsevier B.V. All rights reserved.
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