| 1. |
- Beral, V, et al.
(author)
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Alcohol, tobacco and breast cancer - collaborative reanalysis of individual data from 53 epidemiological studies, including 58515 women with breast cancer and 95067 women without the disease
- 2002
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In: British Journal of Cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 87, s. 1234-45
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Journal article (peer-reviewed)abstract
- Alcohol and tobacco consumption are closely correlated and published results on their association with breast cancer have not always allowed adequately for confounding between these exposures. Over 80% of the relevant information worldwide on alcohol and tobacco consumption and breast cancer were collated, checked and analysed centrally. Analyses included 58515 women with invasive breast cancer and 95067 controls from 53 studies. Relative risks of breast cancer were estimated, after stratifying by study, age, parity and, where appropriate, women's age when their first child was born and consumption of alcohol and tobacco. The average consumption of alcohol reported by controls from developed countries was 6.0 g per day, i.e. about half a unit/drink of alcohol per day, and was greater in ever-smokers than never-smokers, (8.4 g per day and 5.0 g per day, respectively). Compared with women who reported drinking no alcohol, the relative risk of breast cancer was 1.32 (1.19 - 1.45, P < 0.00001) for an intake of 35 - 44 g per day alcohol, and 1.46 (1.33 - 1.61, P < 0.00001) for greater than or equal to 45 g per day alcohol. The relative risk of breast cancer increased by 7.1% (95% CI 5.5-8.7%; P<0.00001) for each additional 10 g per day intake of alcohol, i.e. for each extra unit or drink of alcohol consumed on a daily basis. This increase was the same in ever-smokers and never-smokers (7.1 % per 10 g per day, P < 0.00001, in each group). By contrast, the relationship between smoking and breast cancer was substantially confounded by the effect of alcohol. When analyses were restricted to 22 255 women with breast cancer and 40 832 controls who reported drinking no alcohol, smoking was not associated with breast cancer (compared to never-smokers, relative risk for ever-smokers= 1.03, 95% CI 0.98 - 1.07, and for current smokers=0.99, 0.92 - 1.05). The results for alcohol and for tobacco did not vary substantially across studies, study designs, or according to 15 personal characteristics of the women; nor were the findings materially confounded by any of these factors. If the observed relationship for alcohol is causal, these results suggest that about 4% of the breast cancers in developed countries are attributable to alcohol. In developing countries, where alcohol consumption among controls averaged only 0.4 g per day, alcohol would have a negligible effect on the incidence of breast cancer. In conclusion, smoking has little or no independent effect on the risk of developing breast cancer; the effect of alcohol on breast cancer needs to be interpreted in the context of its beneficial effects, in moderation, on cardiovascular disease and its harmful effects on cirrhosis and cancers of the mouth, larynx, oesophagus and liver. (C) 2002 Cancer Research UK.
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| 2. |
- Bashkanov, M., et al.
(author)
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Two-pion production in proton-proton collisions
- 2004
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In: Hadron Spectroscopy, Tenth International Conference on Hadron Spectrscopy, Aschaffenburg, Germany 31 August - 6 September 2003. - 0735401977 ; , s. 241-244
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Conference paper (other academic/artistic)
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| 3. |
- Bruder, CEG, et al.
(author)
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
- 2001
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In: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 1, s. 271-
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Journal article (peer-reviewed)abstract
- Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.
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| 4. |
- Hubberten, HW, et al.
(author)
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The periglacial climate and environment in northern Eurasia during the Last Glaciation
- 2004
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In: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791. ; 23:11-13, s. 1333-1357
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Research review (peer-reviewed)abstract
- This paper summarizes the results of studies of the Late Weichselian periglacial environments carried out in key areas of northern Eurasia by several QUEEN teams (European Science Foundation (ESF) programme: "Quaternary Environment of the Eurasian North"). The palaeoglaciological boundary conditions are defined by geological data on timing and extent of the last glaciation obtained in the course of the EU funded project "Eurasian Ice Sheets". These data prove beyond any doubt, that with the exception of the northwestern fringe of the Taymyr Peninsula, the rest of the Eurasian mainland and Severnaya Zemlya were not affected by the Barents-Kara Sea fee Sheet during the Last Glacial Maximum (LGM). Inversed modelling based on these results shows that a progressive cooling which started around 30 ka BP, caused ice growth in Scandinavia and the northwestern areas of the Barents-Kara Sea shelf, due to a maritime climate with relatively high precipitation along the western flank of the developing ice sheets. In the rest of the Eurasian Arctic extremely low precipitation rates (less than 50 mm yr(-1)), did not allow ice sheet growth in spite of the very cold temperatures. Palaeoclimatic and palaeoenvironmental conditions for the time prior to, during, and after the LGM have been reconstructed for the non-glaciated areas around the LGM ice sheet with the use of faunal and vegetation records, permafrost, eolian sediments, alluvial deposits and other evidences. The changing environment, from interstadial conditions around 30 ka BP to a much colder and drier environment at the culmination of the LGM at 20-15 ka BP, and the beginning of warming around 15 ka BP have been elaborated from the field data, which fits well with the modelling results. (C) 2003 Elsevier Ltd. All rights reserved.
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| 5. |
- Svendsen, JI, et al.
(author)
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Late quaternary ice sheet history of northern Eurasia
- 2004
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In: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791. ; 23:11-13, s. 1229-1271
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Research review (peer-reviewed)abstract
- The maximum limits of the Eurasian ice sheets during four glaciations have been reconstructed: (1) the Late Saalian (> 140 ka), (2) the Early Weichselian (100-80 ka), (3) the Middle Weichselian (60-50 ka) and (4) the Late Weichselian (25-15 ka). The reconstructed ice limits are based on satellite data and aerial photographs combined with geological field investigations in Russia and Siberia, and with marine seismic- and sediment core data. The Barents-Kara Ice Sheet got progressively smaller during each glaciation, whereas the dimensions of the Scandinavian Ice Sheet increased. During the last Ice Age the Barents-Kara Ice Sheet attained its maximum size as early as 90-80,000 years ago when the ice front reached far onto the continent. A regrowth of the ice sheets occurred during the early Middle Weichselian, culminating about 60-50,000 years ago. During the Late Weichselian the Barents-Kara Ice Sheet did not reach the mainland east of the Kanin Peninsula, with the exception of the NW fringe of Taimyr. A numerical ice-sheet model, forced by global sea level and solar changes, was run through the full Weichselian glacial cycle. The modeling results are roughly compatible with the geological record of ice growth, but the model underpredicts the glaciations in the Eurasian Arctic during the Early and Middle Weichselian. One reason for this is that the climate in the Eurasian Arctic was not as dry then as during the Late Weichselian glacial maximum.
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| 6. |
- Astuto, L. M., et al.
(author)
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CDH23 mutation and phenotype heterogeneity : a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
- 2002
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 71:2, s. 262-275
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Journal article (peer-reviewed)abstract
- Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.
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| 7. |
- Mangerud, J, et al.
(author)
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Ice-dammed lakes and rerouting of the drainage of northern Eurasia during the Last Glaciation
- 2004
-
In: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791. ; 23:11-13, s. 1313-1332
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Journal article (peer-reviewed)abstract
- During the Quaternary period, ice sheets centred over the Barents and Kara seas expanded several times onto mainland Russia and blocked northflowing rivers, such as the Yenissei, Ob, Pechora and Mezen. Large ice-dammed lakes with reversed outlets, e.g. toward the Caspian Sea, formed south of these ice sheets. Some lakes are reconstructed from shorelines and lacustrine sediments, others mainly from ice-sheet configuration. Ice-dammed lakes, considerably larger than any lake on Earth today, are reconstructed for the periods 90-80 and 60-50 ka. The ages are based on numerous optically stimulated luminescence (OSL) dates. During the global Last Glacial Maximum (LGM, about 20 ka) the Barents-Kara Ice Sheet was too small to block these eastern rivers, although in contrast to the 90-80 and 60-50 ka maxima, the Scandinavian Ice Sheet grew large enough to divert rivers and meltwater across the drainage divide from the Baltic Basin to the River Volga, and that way to the Caspian Sea. Climate modelling shows that the lakes caused lower summer temperatures on the continent and on the lower parts of the ice sheet. The final drainage of the best mapped lake is modelled, and it is concluded that it probably emptied within few months. We predict that this catastrophic outburst had considerable impact on sea-ice formation in the Arctic Ocean and on the climate of a much larger area. (C) 2003 Elsevier Ltd. All rights reserved.
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| 8. |
- Pieke-Dahl, S., et al.
(author)
-
Genetic heterogeneity of Usher syndrome type II : localisation to chromosome 5q
- 2000
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In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 37:4, s. 256-262
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Journal article (peer-reviewed)abstract
- Usher syndrome is a group of autosomal recessive disorders that includes retinitis pigmentosa (RP) with hearing loss. Usher syndrome type II is defined as moderate to severe hearing loss with RP. TheUSH2A gene at 1q41 has been isolated and characterised. In 1993, a large Usher II family affected with a mild form of RP was found to be unlinked to 1q41 markers. Subsequent linkage studies of families in our Usher series identified several type II families unlinked to USH2A andUSH3 on 3q25. After a second unlinked family with many affected members and a mild retinal phenotype was discovered, a genome search using these two large families showed another Usher II locus on 5q (two point lod = 3.1 at D5S484). To date, we have identified nine unrelated 5q linked families (maximum combined multipoint lod = 5.86) as well as three Usher II families that show no significant linkage to any known Usher loci. Haplotype analysis of 5q markers indicates that the new locus is flanked by D5S428 and D5S433. Review of ophthalmological data suggests that RP symptoms are milder in 5q linked families; the RP is often not diagnosed until patients near their third decade. Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II.
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| 9. |
- Struglics, André, et al.
(author)
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Protein phosphorylation/dephosphorylation in the inner membrane of potato tuber mitochondria
- 2000
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In: FEBS Letters. - 0014-5793. ; 475:3, s. 213-217
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Journal article (peer-reviewed)abstract
- Inside-out inner mitochondrial membranes free of matrix proteins were isolated from purified potato tuber (Solanum tuberosum L.) mitochondria and incubated with [γ-32P]ATP. Proteins were separated by SDS-PAGE and visualized by autoradiography. Phosphorylation of inner membrane proteins, including ATPase subunits, was strongly inhibited by the phosphoprotein phosphatase inhibitor NaF. We propose that an inner membrane phosphoprotein phosphatase is required for activation of the inner membrane protein kinase. When prelabelled inner membranes were incubated in the absence of [γ- 32P]ATP, there was no phosphoprotein dephosphorylation unless a soluble matrix fraction was added. This dephosphorylation was inhibited by NaF, but not by okadaic acid. We conclude that the mitochondrial matrix contains a phosphoprotein phosphatase that is responsible for dephosphorylation of inner membrane phosphoproteins. (C) 2000 Federation of European Biochemical Societies.
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| 10. |
- Assarsson, Ulf, 1972, et al.
(author)
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An Optimized Soft Shadow Volume Algorithm with Real-Time Performance
- 2003
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In: Proceedings of the SIGGRAPH/ Eurographics Workshop on Graphics Hardware, San Diego, 26-27 July 2003. - 9781581137392 ; , s. 33-40
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Conference paper (peer-reviewed)abstract
- In this paper, we present several optimizations to our previously presented soft shadow volume algorithm. Our optimizations include tighter wedges, heavily optimized pixel shader code for both rectangular and spherical light sources, a frame buffer blending technique to overcome the limitation of 8-bit frame buffers, and a simple culling algorithm. These together give real-time performance, and for simple models we get frame rates of over 150 fps. For morecomplex models 50 fps is normal. In addition to optimizations, two simple techniques for improving the visual quality are also presented.
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