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The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the alpha 5-chain of type IV-collagen. More than 400 different mutations have so far been detected in the COL4A5 gene. Not all mutations, however, will be detected using an exon-by-exon mutation detection strategy such as SSCP analysis or direct sequencing. We have previously reported
The roles of intracellular Ca2+ stores and ryanodine (Ry) receptors for vascular Ca2+ homeostasis and viability were investigated in rat tail arterial segments kept in organ culture with Ry (10 100 M) for up to 4 days. Acute exposure to Ry or the non-deactivating ryanodine analogue C10-Oeq glycyl ryanodine (10 M) eliminated Ca2+ release responses to caffeine (20 mM) and noradrenaline (NA, 10 M), w
The Eu(III)-coordination of phenyltrisalanine (Pta) 1, in aqueous solution was investigated. The photoluminescence data suggested that the chelating effect of Pta places the metal ion on the face of the aromatic ring as proposed in 4. Furthermore, Eu(III) is usually used as a substitute for Ca(II) in spectroscopic studies and the formation of a 1:1 complex between Pta and Eu(III) indicated the pos
High-resolution ground-based infrared solar spectra are routinely recorded at the Network for the Detection of Stratospheric Change (NDSC) stations. These data sets play a key role in providing a long-term record of atmospheric composition and their links to climate change. The analysis of observed infrared spectra involves comparison to a computer-modeled atmosphere where knowledge of the air mas
A dual-pump, dual-broadband coherent anti-Stokes Raman scattering system for simultaneous measurements of temperature and concentrations of N-2, O-2, and CO2 in reacting flows is demonstrated. In this system pure rotational transitions of N-2-O-2 and rovibrational transitions of N-2-CO2 are probed simultaneously with two narrowband pump beams, a broadband pump beam, and a broadband Stokes beam. Th
This study addresses caring staff experiences of hindrances and help in the support of daily occupations among people with developmental disabilities. Data were collected by means of a questionnaire consisting of open-ended questions about the staff perceptions of their work experiences. The respondents (n = 81), corresponding to 94.1% of all care staff employed in a geographically defined care ar
Isolated marginal tooth crowns of the early Campanian mosasaur Hainosaurus Dollo, 1885, from the Kristianstad Basin and the Vomb Trough. southern Sweden, are described and illustrated. The teeth have been collected from a narrow stratigraphic interval corresponding to the highest belemnite zone in the lower part of the European two-fold division of the Campanian stage. A reexamination of dental an
The aim of this paper is to elucidate the use of photo-elicitation as a method for data collection as well as a method for analysis. By using a study on backpacker tourism where the respondents’ own photographs were used in in-depth interviews as an example, the immersion of data collection and analysis is illustrated through the backpackers’ narratives and experiences of travel photography. The t
The present work aims to study preparation of thin MIP films on a gold-coated QCM resonator in a well-controlled and reproducible manner. A surface-bound photo-radical initiator was used to furnish an imprinting polymerization in a dilute solution of template, functional monomer and crosslinker. Prior to polymerization, the photo-initiator was covalently coupled to a self-assembled monolayer of ca
Intestinal neuronal dysplasia is a controversial form of dysganglionosis that has been described both as an isolated disorder and in association with Hirschsprung's disease. It has been blamed for the bad outcome of bowel function in patients operated on for Hirschsprung's disease. According to various authors, intestinal neuronal dysplasia could be a primary disorder or secondary to other disease
In this paper, we elaborate on the issue of analysis-synthesis consistency in sinusoidal coding. Our analysis is based on windowed sinusoids, and uses the same amplitude-complementary window as is used in the overlap-add synthesis. Reconstructions of the neighboring segments are taken into account when forming a particular analysis segment. Sinusoidal estimation is based on a perceptual criterion.
Epidemiological studies have indicated a relationship between overweight and cardiovascular disease. The present investigation was undertaken to identify anthropometric variables in childhood which may reflect the risk of cardiovascular disease in terms of unfavourable changes in apolipoprotein and lipid concentrations. Twenty-nine obese 14-year-olds and 32 obese 12-year-olds were recruited from a
