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151.
J Flavigny P Richard R Isnard L Carrier P Charron G Bonne JF Forissier M Desnos O Dubourg M Komajda K Schwartz B Hainque 《Canadian Metallurgical Quarterly》1998,76(3-4):208-214
Five disease genes encoding sarcomeric proteins and associated with familial and classical forms of hypertrophic cardiomyopathy have been determined since 1989. In 1996 two other genes encoding ventricular regulatory and essential myosin light chains were shown to be associated with a particular phenotype of the disease characterized by mid left ventricular obstruction. The aim of the present study was to search for mutations in the ventricular regulatory myosin light chain gene (MYL2), located on chromosome 12q23q24.3, in a panel of 42 probands presenting a classical phenotype of familial hypertrophic cardiomyopathy. Single-strand conformation polymorphism analysis was used to search for mutations in the coding segments of the MYL2 gene, and the abnormal products were sequenced. Two novel missense mutations, Phe18Leu in exon 2 and Arg58Gln in exon 4 were identified in three unrelated families. None of the affected patients had hypertrophy localized only at the level of the papillary muscle with mid left ventricular obstruction. By analysis of genetic recombinations, one of these mutations identified in a large family allowed us to refine the localization of the MYL2 gene on the genetic map, in an interval of 6 cM containing six informative microsatellite markers. In conclusion, we show that mutations in the MYL2 gene may be involved in familial and classical forms of hypertrophic cardiomyopathy, and we provide new tools for the genetic analysis of patients with familial hypertrophic cardiomyopathy. 相似文献
152.
Sylvie Rousset-Akrim Florence Got Marie-Christine Bayle & Joseph Culioli 《International Journal of Food Science & Technology》1996,31(4):333-343
The present study compares the effects of pre− and post-rigor injections of 0.1 m CaCl2 or 0.15 m NaCl on sensory characteristics (appearance, texture and flavour) and on physical measurements (sarcomere length, drip loss and mechanical resistance of raw myofibres) of beef meat at 2, 6 and 14 days of ageing. An injection of CaCl2 1 h post-mortem (pH ≈6.8) greatly decreased sarcomere length and myofibrillar resistance, increased drip loss, contracted appearance and brightness, and induced abnormal flavour, mainly bitterness, whatever the ageing time. CaCl2 -treatment 1 h post-mortem produced little effect on tenderness during ageing; it was slightly higher at day 2 and lower at day 14 than controls. CaCl2 -injection at 24 h post-mortem did not change the sarcomere length but produced a smaller increase in drip loss and a decrease in the resistance of raw myofibres. Improved meat tenderness compared to controls occurred mainly at days 2 and 6 but, during ageing, abnormal flavour appeared by day 6. NaCl-injection had no effect on either sarcomere length or resistance of raw myofibres, but produced higher drip loss and saltier taste at day 14 only. Thus pre-rigor injection of CaCl2 is not recommended because of adverse effects on flavour and appearance of meat. Post-rigor injection of CaCl2 has a beneficial effect on tenderness in the first part of the ageing period, but after complete ageing, the only overall benefit is a decrease in the variability between animals. 相似文献
153.
154.
Critical budget of metal sources and pathways in the Seine River basin (1994-2003) for Cd, Cr, Cu, Hg, Ni, Pb and Zn 总被引:1,自引:0,他引:1
Thévenot DR Moilleron R Lestel L Gromaire MC Rocher V Cambier P Bonté P Colin JL de Pontevès C Meybeck M 《The Science of the total environment》2007,375(1-3):180-203
River basin metal pollution originates from heavy industries (plating, automobile) and from urban sources (Paris conurbation: 2740 km(2), 9.47 million inhabitants). The natural sources of metal have been found to be limited due to sedimentary nature of this catchment and to the very low river sediment transport (10 t km(-2) y(-1)). Several types of data have been collected to build the metal budget within the whole Seine River basin: field surveys, economical statistics and environmental models. Environmental contamination and related fluxes have been measured on atmospheric fallout, rural streams particles, and Seine River particles upstream and downstream of Paris and at river mouth. Metal pathways and budgets have been set up for (i) a typical cultivated area, (ii) a Paris combined sewer system, (iii) Paris conurbation and (iv) the whole catchment metal retention effect in floodplain and dredged material. Metal fluxes to the estuary have been decomposed into natural, urban domestic and other sources. The latter are within 1-2 orders of magnitude larger than waste water fluxes directly released into rivers according to an industrial census. These fluxes have been further compared to the annual use (1994-2003) of these metals. Metal excess fluxes exported by the river are now a marginal leak of metal inputs to the catchment (i.e. "raw" metals, metals in goods, atmospheric fallout), generally from 0.2 to 5 per thousand. However, due to the very limited dilution power in this basin, the contamination of particles is still relatively high. The Seine River basin is gradually storing metals, mostly in manufactured products used in construction, but also in various waste dumps, industrial soils, agricultural and flood plain soils. 相似文献
155.
A time fractional model to represent rainfall process简 总被引:1,自引:0,他引:1
This paper deals with a stochastic representation of the rainfall process.The analysis of a rainfall time series shows that cumulative representation of a rainfall time series can be modeled as a non-Gaussian random walk with a log-normal jump distribution and a time-waiting distribution following a tempered α-stable probability law.Based on the random walk model,a fractional Fokker-Planck equation(FFPE) with tempered α-stable waiting times was obtained.Through the comparison of observed data and simulated results from the random walk model and FFPE model with tempered α-stable waiting times,it can be concluded that the behavior of the rainfall process is globally reproduced,and the FFPE model with tempered α-stable waiting times is more efficient in reproducing the observed behavior. 相似文献
156.
Dr. Louis M. P. Ter-Ovanessian Prof. Marie-Christine Maurel Prof. Jean-François Lambert 《Chembiochem : a European journal of chemical biology》2023,24(10):e202300143
Ring-closure is a key step in current pyrimidine anabolism and one may wonder whether cyclisation reactions could be promoted in the geochemical context at the origins of life, i. e. with the help of minerals. Various prebiotic minerals were tested in this work, including silica, carbonates, microporous minerals. In particular, the role of zinc ions supported on minerals was investigated in view of its presence in the catalytic site of cyclic amidohydrolase enzymes. Based on in situ (TGA: ThermoGravimetric Analysis, ATR-IR: Attenuated Total Reflectance-InfraRed) and ex situ (1H NMR- Nuclear Magnetic Resonance) characterisations, we identified the products of thermal activation of NCA (N-carbamoyl-aspartic acid) in wetting-and-drying scenarios on the surface of minerals. NCA can cyclize extensively only on some surfaces, with the predominant product being 5-carboxymethylhydantoin (Hy) rather than dihydroorotate (DHO), while there is a competition with hydrolysis on others. Replacing the enzymes with heterogeneous catalysts also works with other reactions catalysed by enzymes of the cyclic amidohydrolases family. The role of the hydrophilicity/hydrophobicity of minerals as well as the regioselectivity of the cyclisation (5-carboxymethylhydantoin versus dihydroorotate) are examined. 相似文献