| 1. |
- Kalscheuer, Vera M, et al.
(författare)
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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
- 2003
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 35:4, s. 313-315
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Tidskriftsartikel (refereegranskat)abstract
- We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
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| 2. |
- Moss, B, et al.
(författare)
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The determination of ecological status in shallow lakes - a tested system (ECOFRAME) for implementation of the European Water Framework Directive
- 2003
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Ingår i: Aquatic Conservation: Marine and Freshwater Ecosystems. - : Wiley. - 1052-7613. ; 13:6, s. 507-549
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Tidskriftsartikel (refereegranskat)abstract
- 1. The European Water Framework Directive requires the determination of ecological status in European fresh and saline waters. This is to be through the establishment of a typology of surface water bodies, the determination of reference (high status) conditions in each element (ecotype) of the typology and of lower grades of status (good, moderate, poor and bad) for each ecotype. It then requires classification of the status of the water bodies and their restoration to at least 'good status' in a specified period. 2. Though there are many methods for assessing water quality, none has the scope of that defined in the Directive. The provisions of the Directive require a wide range of variables to be measured and give only general guidance as to how systems of classification should be established. This raises issues of comparability across States and of the costs of making the determinations. 3. Using expert workshops and subsequent field testing, a practicable pan-European typology and classification system has been developed for shallow lakes, which can easily be extended to all lakes. It is parsimonious in its choice of determinands, but based on current limnological understanding and therefore as cost-effective as possible. 4. A core typology is described, which can be expanded easily in particular States to meet local conditions. The core includes 48 ecotypes across the entire European climate gradient and incorporates climate, lake area, geology of the catchment and conductivity. 5. The classification system is founded on a liberal interpretation of Annexes in the Directive and uses variables that are inexpensive to measure and ecologically relevant. The need for taxonomic expertise is minimized. 6. The scheme has been through eight iterations, two of which were tested in the field on tranches of 66 lakes. The final version, Version 8, is offered for operational testing and further refinement by statutory authorities.
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| 3. |
- Noges, P, et al.
(författare)
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Factors controlling hydrochemical and trophic state variables in 86 shallow lakes in Europe
- 2003
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Ingår i: Hydrobiologia. - 1573-5117 .- 0018-8158. ; 506:1-3, s. 51-58
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Konferensbidrag (refereegranskat)abstract
- In order to disentangle the causes of variations in water chemistry among European shallow lakes, we performed standardised sampling programs in 86 lakes along a latitudinal gradient from southern Spain to northern Sweden. Lakes with an area of 0.1 to 27000 ha and mean depth of 0.4-5.6 m located in low to high altitudes were investigated within the EC project ECOFRAME 1-4 times during June-October 2000-2001. Several variables like conductivity, alkalinity, abundance of submerged plants, concentrations of suspended solids, total nitrogen and phosphorus were latitude-dependent decreasing from south to north. Secchi depth, concentrations of total nitrogen, total phosphorus, suspended solids, and chlorophyll a correlated strongly with the presumed quality classes of the lakes. We came to the conclusion that the variability of shallow lakes in Europe is still mostly dependent on natural differences. Variables connected to lake morphometry, seasonality, basin geology and climate explained altogether nearly half of the total variability of lakes. The trophic state factor, describing mostly the human influence on lakes, was the strongest single factor responsible for nearly a quarter of the total variability of the studied European lakes.
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