| 1. |
- Lopez-Garcia, SC, et al.
(författare)
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Treatment and long-term outcome in primary distal renal tubular acidosis
- 2019
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Ingår i: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. - : Oxford University Press (OUP). - 1460-2385. ; 34:6, s. 981-991
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Connor, T. M., et al.
(författare)
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Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
- 2017
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Ingår i: Plos Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 13:3
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Tidskriftsartikel (refereegranskat)abstract
- Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A> T). While mutations in mtDNA coding sequence are a well recognised cause of disease affecting multiple organs, mutations in the control region have never been shown to cause disease. Strikingly, our patients did not have classical features of mitochondrial disease. Patient fibroblasts showed reduced levels of mitochondrial tRNA(Phe), tRNA(Leu1) and reduced mitochondrial protein translation and respiration. Mitochondrial transfer demonstrated mitochondrial transmission of the defect and in vitro assays showed reduced activity of the heavy strand promoter. We also identified further kindreds with the same phenotype carrying a homoplasmic mutation in mitochondrial tRNA Phe (m.616T> C). Thus mutations in mitochondrial DNA can cause maternally inherited renal disease, likely mediated through reduced function of mitochondrial tRNA(Phe)
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| 3. |
- Fazel, S, et al.
(författare)
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STUCTURED RISK ASSESSMENT IN PSYCHIATRY
- 2018
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Ingår i: SCHIZOPHRENIA BULLETIN. - : Oxford University Press (OUP). - 0586-7614 .- 1745-1701. ; 44, s. S23-S24
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Perret, E., et al.
(författare)
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Structural, magnetic and electronic properties of pulsed-laser-deposition grown SrFeO3-delta thin films and SrFeO3-delta/La2/3Ca1/3MnO3 multilayers
- 2017
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Ingår i: Journal of Physics. - 0953-8984 .- 1361-648X. ; 29:49
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Tidskriftsartikel (refereegranskat)abstract
- We studied the structural, magnetic and electronic properties of SrFeO3-delta (SFO) thin films and SrFeO3-delta/La2/3Ca1/3MnO3 (LCMO) superlattices that have been grown with pulsed laser deposition (PLD) on La0.3Sr0.7Al0.65Ta0.35O3 (LSAT) substrates. X-ray reflectometry and scanning transmission electron microscopy (STEM) confirm the high structural quality of the films and flat and atomically sharp interfaces of the superlattices. The STEM data also reveal a difference in the interfacial layer stacking with a SrO layer at the LCMO/SFO and a LaO layer at the SFO/LCMO interfaces along the PLD growth direction. The x-ray diffraction (XRD) data suggest that the as grown SFO films and SFO/LCMO superlattices have an oxygen-deficient SrFeO3-delta structure with I4/mmm space group symmetry (delta <= 0.2). Subsequent ozone annealed SFO films are consistent with an almost oxygen stoichiometric structure (delta approximate to 0). The electronic and magnetic properties of these SFO films are similar to the ones of corresponding single crystals. In particular, the as grown SrFeO3-delta films are insulating whereas the ozone annealed films are metallic. The magneto-resistance effects of the as grown SFO films have a similar magnitude as in the single crystals, but extend over a much wider temperature range. Last but not least, for the SFO/LCMO superlattices we observe a rather large exchange bias effect that varies as a function of the cooling field.
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| 5. |
- Willatt, Rosemary, et al.
(författare)
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Retrieval of Snow Depth on Arctic Sea Ice From Surface-Based, Polarimetric, Dual-Frequency Radar Altimetry
- 2023
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 50:20
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Tidskriftsartikel (refereegranskat)abstract
- Snow depth on sea ice is an Essential Climate Variable and a major source of uncertainty in satellite altimetry-derived sea ice thickness. During winter of the MOSAiC Expedition, the “KuKa” dual-frequency, fully polarized Ku- and Ka-band radar was deployed in “stare” nadir-looking mode to investigate the possibility of combining these two frequencies to retrieve snow depth. Three approaches were investigated: dual-frequency, dual-polarization and waveform shape, and compared to independent snow depth measurements. Novel dual-polarization approaches yielded r2 values up to 0.77. Mean snow depths agreed within 1cm, even for data sub-banded to CryoSat-2 SIRAL and SARAL AltiKa bandwidths. Snow depths from co-polarized dual-frequency approaches were at least a factor of four too small and had a r2 0.15 or lower. r2 for waveform shape techniques reached 0.72 but depths were underestimated. Snow depth retrievals using polarimetric information or waveform shape may therefore be possible from airborne/satellite radar altimeters.
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