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11.
Recently an unstable trinucleotide CTG repeat, located within the 3' untranslated region of a gene on 19q13.3 was discovered in kindreds with myotonic dystrophy (DM). The age-of-onset/severity of DM shows a good correlation with CTG repeat size, and pedigrees and data reported to date have shown a striking trend toward amplification of the size of the CTG repeat during transmission from parent to child. The amplification has been accepted as the biological explanation for anticipation in the clinical severity observed in many families with DM. In this paper we report on 3 families where CTG amplification decreased during transmission from parent to child. In one case there was a gene conversion event, while in the remaining 2 there was a simpler reduction in the size of the repeat length. The changes appear to have been accompanied by a reduction in clinical severity in the child when compared to the parent. These observations are discussed in terms of their clinical implications and the biases that may exist in much of the reported data. 相似文献
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Bench-scale tests were conducted with raw and beneficiated shales in an advanced multi-purpose research reactor. Raw Alabama shale and raw and beneficiated Indiana shales were retorted at 515 °C using hydrogen pressures of 4 and 7 MPa. Shale feed rates were 15 to 34 kg h−1. High oil yields and carbon conversions were achieved in all tests. Oil yield from Alabama shale hydroretorted at 7 MPa was 200% of Fischer assay. Raw and beneficiated Indiana shales hydroretorted at 7 MPa produced oil yields of 170 and 195% of Fischer assay respectively. Total carbon conversions were >70% for all tests conducted at 7 MPa. 相似文献
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Over the last decade there have emerged many electronic applications of HTS technology which have important military as well as commercial implications. Examples of these include space communications, terrestrial wireless communications, radar, surveillance, countermeasures, medical applications and cryo-electronics. I will review many of the efforts in in this area that have been supported by the DoD which has invested over $350M on this technology. In addition I will discuss the efforts to develop cryocoolers to support the HTS technology. 相似文献
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Francis COURTOIS 《Drying Technology》1995,13(1):147-164
A new dynamic model of corn drying based on compartmental structure and quality prediction was built up from a thin layer model to industrial scale. From the system analysis to the programming, we focus mainly on numerical resolution of the equations and on the ergonomy of the software. 相似文献
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Lu Shen Beng Jit Tan William S. Willis Francis S. Galasso Steven L. Suib 《Journal of the American Ceramic Society》1994,77(4):1011-1016
Amorphous boron nitride thin coatings (∼0.2 μm) have been formed on Nicalon and C-Nicaion (pre-carbon-coated Nicalon) yarns via dip coating in boric acid solution followed by heating and nitriding in NH3 gas at 1000°C. X-ray photoelectron spectroscopy (XPS) and Auger electron spec-troscopy (AES) studies have shown the formation of boron nitride. The coating was boron rich and contains oxygen. The N/B and O/B ratios range from 0.6 to 0.8 and from 0.1 to 0.25, respectively. Tensile strength measurements revealed that the BN-coated C-Nicalon yarn maintained ∼85% of its original strength while BN-coated Nicalon lost ∼85% of its original strength. Auger depth profiles showed that there was a consumption of carbon during the heating and nitridation process for both BN-coated Nicalon and C-Nicalon fibers. However, the depletion of carbon in BN-coated Nicalon fibers was much more severe than that in BN-coated C-Nicalon fibers. 相似文献
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RA Francis 《Canadian Metallurgical Quarterly》1996,93(11):685-686