Publications by authors named "Simon Gaul"

Article Synopsis
  • - Cystic fibrosis (CF) is a genetic disease caused by mutations in the CFTR gene, affecting multiple organs like the lungs and pancreas, along with related milder disorders known as CFTR-related disorders (CFTR-RD).
  • - Advances in next-generation sequencing have revealed that CF and CFTR-RD exhibit a more diverse range of genetic variations than previously recognized.
  • - The presentation of three patients with the common CFTR mutation (F508del) highlights the variability of symptoms and raises important points about the influence of other genetic factors, early diagnosis, treatment, and lifestyle on the conditions.
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Mercury (Hg) is a widespread and toxic environmental contaminant. It is challenging to determine the level of Hg contamination of food chains and fish within the millions of water bodies in the United States. Mercury contamination can vary 10-fold between ecosystems, even those in the same region.

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Halogenated natural products (HNPs) are frequently detected in marine organisms. High HNP concentrations have previously been found in marine mammals from the Great Barrier Reef, Australia, including in the blubber of herbivorous dugongs (Dugong dugon). To identify the source of HNPs we initially focused on the analysis of Australian seagrass (Halophila ovalis) which serves as the principal food source for dugongs.

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Halogenated 1'-methyl-1,2'-bipyrroles (MBPs) are a class of marine halogenated natural products that have been detected in biota from all over the world. However, structures and standards of many mixed chlorinated/brominated MBPs are not available. For this reason, the known 2,3,3',4,4',5,5'-heptachloro-1'-methyl-1,2'-bipyrrole (Q1 or MBP-79) was UV-irradiated in the presence of bromine with the goal of inducing a chlorine-->bromine exchange.

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The marine halogenated natural product 2,3,3',4,4',5,5'-heptachloro-1'-methyl-1,2'-bipyrrole (Q1) has been detected in high-trophic level biota throughout the world. In this study we UV-irradiated Q1 in order to produce hexahalogenated 1'-methylbipyrroles (Cl(6)-MBPs). Q1 was transformed with half-lives of <5 min.

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Methyl-branched fatty acids (MBFAs) are the dominant form of fatty acid found in many bacteria. They are also found at low levels in a range of foodstuffs, where their presence has been linked to bacterial sources. In this study we evaluated the potential of compound-specific isotope analysis to obtain insights into the stable carbon isotope ratios (delta(13)C values in per thousand) of individual MBFAs and to compare them to the stable carbon isotope ratios of straight-chain fatty acids in food.

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An elemental analyzer in combination with stable isotope ratio mass spectrometry (EA-IRMS) was used to demonstrate that two samples of the chloropesticide Melipax discovered in two countries varied only by 0.1 per thousand in their delta 13C values. Gas chromatography interfaced to a stable isotope mass spectrometer (GC-IRMS) was used to study the delta 13C values of individual congeners in two technical polybrominated diphenyl ether products, i.

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Compound-specific isotope analysis using gas chromatography interfaced to isotope ratio mass spectrometry (GC-IRMS) is a versatile technique for applications ranging from source appointment and the elucidation of biochemical pathways. When delta(13)C values are going to be determined, the sample is combusted to CO(2) and the resulting gas is analyzed relative to a standard with known stable carbon isotope ratio. With the combustion step any information on the identity of a peak is lost.

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The effects of the neuroactive steroids alphaxalone and pregnanolone on single GABA(A) receptor channels were tested in cell-attached and inside-out patches from cultured newborn rat hippocampal neurons. The conductance of these single channels ranged between 10 and 80 pS when exposed to low (0.5-3 microM) GABA concentrations.

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The marine halogenated natural product 2,3,3',4,4',5,5'-heptachloro-1'-methyl-1,2'-bipyrrole (Q1) is widely distributed in the environment. In this study, we screened samples which have previously been found to contain remarkably high residues of Q1 (blubber of marine mammals from Australia, samples from Antarctica, human milk from the Faroe Island) for the additional presence of mixed chlorinated and brominated congeners. Using GC/ECNI-MS, all samples tested were positive and many contained four out of five possible bromohexachloro congeners (BrCl6-MBPs), five out of 14 possible dibromopentachloro congeners (Br2Cl5-MBPs), five of 21 possible tribromotetrachloro-congeners (Br3Cl4-MBPs), as well as several higher brominated congeners.

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The anaerobic transformation of the technical octabromo diphenyl ether mixture, DE-79, was investigated by incubation with two super-reduced corrinoids, dicyanocobinamide and cyanocobalamin (vitamin B12). The transformation produced 33 brominated diphenyl ethers (BDEs), 23 of which could be assigned to known structures. Within 1 d, the hepta- to nona-BDEs in DE-79 were almost quantitatively transformed with dicyanocobinamide to lower-brominated homologs.

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The major octabromo isomer of technical octabromo diphenyl ether mixture (technical octaBDE) DE-79 was isolated by RP-HPLC. Three serially coupled columns (each 250 mm long) enabled a good separation of the target compound from other congeners using 100% ACN as eluent. Approximately 100 microg of the target compound was isolated with a purity of >90% and investigated by MS for confirmation of the degree of bromination.

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Some methoxylated polybrominated diphenyl ethers (MeO-BDEs) are known halogenated natural products (HNPs) and are frequently detected in higher organisms of the marine environment. In this study we demonstrate that a prominent MeO-BDE, previously detected in marine mammals from Australia, is identical to 3,5-dibromo-2-(2',4'dibromo)phenoxyanisole (BC-3, 6-MeO-BDE 47). Up to 1.

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The effects of intravenous (i.v.) anaesthetics on nicotinic acetylcholine receptor (nAChR)-induced transients in intracellular free Ca(2+) concentration ([Ca(2+)](i)) and membrane currents were investigated in neonatal rat intracardiac neurons.

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