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J Tyson L Tranebjaerg S Bellman C Wren JF Taylor J Bathen B Aslaksen SJ S?rland O Lund S Malcolm M Pembrey S Bhattacharya M Bitner-Glindzicz 《Canadian Metallurgical Quarterly》1997,6(12):2179-2185
The Jervell and Lange-Nielsen syndrome (JLNS) comprises profound congenital sensorineural deafness associated with syncopal episodes. These are caused by ventricular arrhythmias secondary to abnormal repolarisation, manifested by a prolonged QT interval on the electrocardiogram. Recently, in families with JLNS, Neyroud et al. reported homozygosity for a single mutation in KVLQT1 , a gene which has previously been shown to be mutated in families with dominantly inherited isolated long QT syndrome [Neyroud et al . (1997) Nature Genet ., 15, 186-189]. We have analysed a group of families with JLNS and shown that the majority are consistent with mutation at this locus: five families of differing ethnic backgrounds were homozygous by descent for markers close to the KVLQT1 gene and a further three families from the same geographical region were shown to be homozygous for a common haplotype and to have the same homozygous mutation of the KVLQT1 gene. However, analysis of a single small consanguineous family excluded linkage to the KVLQT1 gene, establishing genetic heterogeneity in JLNS. The affected children in this family were homozygous by descent for markers on chromosome 21, in a region containing the gene IsK . This codes for a transmembrane protein known to associate with KVLQT1 to form the slow component of the delayed rectifier potassium channel. Sequencing of the affected boys showed a homozygous mutation, demonstrating that mutation in the IsK gene may be a rare cause of JLNS and that an indistinguishable phenotype can arise from mutations in either of the two interacting molecules. 相似文献
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This paper describes the implementation of a general and flexible method of formulating problems of mathematical programming in structural optimization systems. The method enables the formulation and solution of problems involving scalar, integral, min/max, max/min and possibly non-differentiable user defined functions in any conceivable mix. The mathematical formulation is based on the bound formulation, and the implementation specific details involve a parser capable of interpreting and performing symbolic differentiation of the user defined functions. 相似文献
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R Albrecht TC Awes C Baktash P Beckmann F Berger R Bock G Claesson G Clewing L Dragon A Eklund RL Ferguson A Franz S Garpman R Glasow HA Gustafsson HH Gutbrod J Idh P Jacobs K Kampert BW Kolb P Kristiansson IY Lee H Loehner I Lund FE Obenshain A Oskarsson I Otterlund T Peitzmann S Persson F Plasil AM Poskanzer M Purschke H Ritter S Saini R Santo HR Schmidt T Siemiarczuk SP Sorensen E Stenlund ML Tincknell GR Young 《Canadian Metallurgical Quarterly》1991,44(6):2736-2752
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Janne Halme Minna Toivola Antti Tolvanen Peter Lund 《Solar Energy Materials & Solar Cells》2006,90(7-8):872-886
Electrochemical impedance spectroscopy was used to determine the effective charge transfer resistances of porous dye-sensitized solar cell counter electrodes prepared by low-temperature spray deposition and compression of conductive carbon and platinized Sb-doped SnO2 powders on indium tin oxide-coated plastic substrates. The charge transfer resistances were 0.5–2 and 8–13 Ω cm2, respectively, when using 3-methoxypropionitrile as the electrolyte solvent. The manufacturing method used lends itself to produce mechanically stable and even-quality electrodes in an easy and fast manner. 相似文献
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Preference mapping with 10 pears identified 3 segments among New Zealand consumers. While 1 segment preferred ripe European cultivars, another rejected only the seedling with strong off‐flavors. A 3rd segment combined the 2 former segments, but also rejected 2 hybrid samples. Survey responses to the question “To me, the ideal pear is ?” from a 2nd consumer sample confirmed the general preference for juicy and sweet pears, the key characteristics of ripeness. A separate appearance evaluation revealed 4 segments based on color and shape. Combining information from several sources resulted in suggestions for new breeding directions for pears, while highlighting the importance of appearance and the need for more extensive measurements. 相似文献
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The thermal stress on building‐integrated photovoltaic modules (BIPV) in Espoo, Finland, was studied with field‐testing of amorphous silicon modules. Based on these results, the thermal stress at two other European locations (Paris and Lisbon) was estimated. The estimation procedure entailed thermal modelling of heat transfer in the façade with meteorological data as input. The results indicate that the thermal stress on BIPV modules in Lisbon is, in this case, approximately 50% higher that in Espoo and between 80 and 200% higher than in Paris, depending on the activation energy of the degradation process. The difference in stress between a BIPV module and a free‐standing module in Espoo was 50–200%. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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Physical activity and risk of colorectal cancer in men and women 总被引:1,自引:0,他引:1
We examined the association between self-reported occupational and recreational physical activity and the subsequent risk of colorectal cancer in a population-based cohort in Norway. During a mean follow-up time of 16.3 years for males and 15.5 years for females, 236 and 99 colon cancers and 170 and 58 rectal cancers were observed in males and females, respectively, among 53,242 males and 28,274 females who attended the screening between 1972 and 1978. Physical activity at a level equivalent to walking or bicycling for at least four hours a week during leisure-time was associated with decreased risk of colon cancer among females when compared with the sedentary group (RR = 0.62, 95% CI 0.40-0.97). Reduced risk of colon cancer was particularly marked in the proximal colon (RR = 0.51, 95% CI 0.28-0.93). This effect was not observed for occupational physical activity alone, probably due to a narrow range of self-reported physical activity at work among females. However, by combining occupational and recreational physical activity we observed an inverse dose-response effect as increasing total activity significantly reduced colon cancer risk (P for trend = 0.04). Among males 45 years or older at entry to the study, an inverse dose-response effect was observed between total physical activity and colon cancer risk (P for trend = 0.04). We also found in males a stronger preventive effect for physical activity in the proximal as compared to distal colon. In addition, we found a borderline significant decrease in colon cancer risk for occupational physical activity in males 45 years or older when compared to the sedentary group (RR = 0.74, 95% CI 0.53-1.04). All results were adjusted for age, body mass index, serum cholesterol and geographic region. No association between physical activity and rectal cancer was observed in males or females. The protective effect of physical activity on colon cancer risk is discussed in regard to energy balance, dietary factors, age, social class, body mass index and gastrointestinal transit time. 相似文献