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- Choularton, T. W., et al.
(författare)
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The Great Dun Fell Cloud Experiment 1993 : An overview
- 1997
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Ingår i: Atmospheric Environment. - 1352-2310. ; 31:16, s. 2393-2405
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Tidskriftsartikel (refereegranskat)abstract
- The 1993 Ground-based Cloud Experiment on Great Dun Fell used a wide range of measurements of trace gases, aerosol particles and cloud droplets at five sites to study their sources and sinks especially those in cloud. These measurements have been interpreted using a variety of models. The conclusions add to our knowledge of air pollution, acidification of the atmosphere and the ground, eutrophication and climate change. The experiment is designed to use the hill cap cloud as a flow-through reactor, and was conducted in varying levels of pollution typical of much of the rural temperate continental northern hemisphere in spring-time.
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| 2. |
- Weston, M. D., et al.
(författare)
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Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
- 1996
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Ingår i: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 59:5, s. 1074-1083
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons. Twenty-three mutations were found segregating with the disease in 20 families. Of the 23 mutations, 13 were unique, and 2 of the 13 unique mutations (Arg212His and Arg212Cys) accounted for the greatest percentage of observed mutant alleles (8/23, 31%). Six of the 13 mutations caused premature stop codons, 6 caused changes in the amino acid sequence of the myosin VIIa protein, and 1 resulted in a splicing defect. Three patients were homozygotes or compound heterozygotes for mutant alleles; these three cases were Tyr333Stop/Tyr333Stop, Arg212His-Arg302His/Arg212His-Arg302His, and IVS13nt-8c-->g/Glu450Gln. All the other USH1B mutations observed were simple heterozygotes, and it is presumed that the mutation on the other allele is present in the unscreened regions of the gene. None of the mutations reported here were observed in 96 unrelated control samples, although several polymorphisms were detected. These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16.
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| 3. |
- Eudy, James D., et al.
(författare)
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Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
- 1998
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 280:5370, s. 1753-1757
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.
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| 7. |
- Kimberling, William J., et al.
(författare)
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Gene mapping of Usher syndrome type IIa : localization of the gene to a 2.1-cM segment on chromosome 1q41
- 1995
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Ingår i: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 56:1, s. 216-223
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type II is associated with hearing loss and retinitis pigmentosa but not with any vestibular problems. It is known to be genetically heterogeneous, and one locus (termed USH2A) has been linked to chromosome 1q41. In an effort to refine the localization of USH2A, the genetic map of the region between and adjacent to the marker loci previously recognized as flanking USH2A (D1S70 and PPOL) is updated. Analysis of marker data on 68 Usher II families places the USH2A gene into a 2.1-cM region between the markers D1S237 and D1S229. The gene for transforming growth factor β2 (TGFB2) and the gene for the homeodomain box (HLX1) are both eliminated as candidates for USH2A, by virtue of their localization outside these flanking markers. The earlier finding of genetic heterogeneity was confirmed in six new families, and the proportion of unlinked Usher II families is estimated at 12.5%. The placement of the USH2A gene into this region will aid in the physical mapping and isolation of the gene itself.
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| 9. |
- Möller, Per, et al.
(författare)
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Weichselian geology and palaeo-environmental history of the central Taymyr Peninsula, Siberia, indicating no glaciation during the last global glacial maximum
- 1999
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Ingår i: Boreas. - : Wiley. - 1502-3885 .- 0300-9483. ; 28:1, s. 92-114
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Tidskriftsartikel (refereegranskat)abstract
- The Taymyr Peninsula constitutes the eastern delimitation of a possible Kara Sea basin ice sheet. The existence of such an ice sheet during the last global glacial maximum (LGM), i.e. during the Late Weichselian/Upper Zyryansk, is favoured by some Russian scientists. However, a growing number of studies point towards a more minimalistic view concerning the areal extent of Late Weichselian/Upper Zyryansk Siberian glaciation. Investigations carried out by us along the central Byrranga Mountains and in the Taymyr Lake basin south thereof, reject the possibility of a Late Weichselian/Upper Zyryansk glaciation of this area. Our conclusion is based on the following: Dating of a continuous lacustrine sediment sequence at Cape Sabler on the Taymyr Lake shows that it spans at least the period 39–17 ka BP. Even younger ages have been reported, suggesting that this lacustrine environment prevailed until shortly before the Holocene. The distribution of these sediments indicates the existence of a paleo-Taymyr lake reaching c. 60 m above present sea level. A reconnaissance of the central part of the Byrranga Mountains gave no evidence of any more recent glacial coverage. The only evidence of glaciation — an indirect one — is deltaic sequences around 100–120 m a.s.l., suggesting glacio-isostatic depression and a large input of glacial meltwater from the north. However, 14C and ESR datings of these marine sediments suggest that they are of Early Weichselian/Lower Zyryansk or older age. As they are not covered by till and show no glaciotectonic disturbances, they support our opinion that there was no Late Weichselian/Lower Zyryansk glaciation in this area. We thus suggest that the Taymyr Peninsula was most probably glaciated during the early part of the last glacial cycle (when there was only small- to mediumscale glaciation in Scandinavia), but not glaciated during the later part of that cycle (which had the maximum ice-sheet coverage over north-western Europe). This fits a climatic scenario suggesting that the Taymyr area, like most of Siberia, would come into precipitation shadow during times with large-scale ice-sheet coverage of Scandinavia and the rest of north-western Europe.
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