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The expansion of trinucleotide repeat sequences has now been shown to be the underlying cause of at least ten human disorders. Unifying features among these diseases include the unstable behavior of the triplet repeat during germline transmission when the length of the repeat exceeds a critical value. However, the trinucleotide repeat disorders can be divided into two distinct groups. Type I disorders involve the expansion of CAG repeats, which encode an expanded polyglutamine, inserted into the open-reading frame of a gene that is usually quite broadly expressed. Recently, mouse models for type I disorders have been developed and the basis of pathology is under study, both in these models and through biochemical and cell biological approaches. The type II disorders involve repeat expansions in noncoding regions of genes. The mechanisms by which these repeat expansions lead to pathology may be quite diverse. 相似文献
64.
DP Kiel RH Myers LA Cupples XF Kong XH Zhu J Ordovas EJ Schaefer DT Felson D Rush PW Wilson JA Eisman MF Holick 《Canadian Metallurgical Quarterly》1997,12(7):1049-1057
Previous studies of the vitamin D receptor (VDR) polymorphisms and bone mineral density (BMD) have suggested that there may be differences in calcium absorption among groups of women with different VDR genotypes, and that the association may be stronger in younger women. To investigate the association between the VDR polymorphisms and BMD, this study was undertaken in the Framingham Study Cohort and a group of younger volunteers. Subjects from the Framingham Study (ages 69-90 years) included those who underwent BMD testing and who had genotyping for the VDR alleles (n = 328) using polymerase chain reaction methods and restriction fragment length polymorphisms with BsmI (B absence, b presence of cut site). A group of younger volunteer subjects (ages 18-68) also underwent BMD testing and VDR genotyping (n = 94). In Framingham Cohort subjects with the bb genotype, but not the Bb or BB genotypes, there were significant associations between calcium intake and BMD at five of six skeletal sites, such that BMD was 7-12% higher in those with dietary calcium intakes greater than 800 mg/day compared with those with intakes < 500 mg/day. The data also suggested that BMD was higher in persons with the bb genotype only in the group with calcium intakes above 800 mg/day. No significant differences were found in the Framingham Cohort for age-, sex-, and weight-adjusted BMD at any skeletal site between those with the BB genotype and those with the bb genotype regardless of 25-hydroxyvitamin D levels or country of origin. In the younger volunteers, BMD of the femoral neck was 5.4% higher (p < 0.05) in the bb genotype group compared with the BB group and 11% higher (p < 0.05) in males with the bb genotype compared with the BB group. There were no significant differences at the lumbar spine. In this study, the association between calcium intake and BMD appeared to be dependent upon VDR genotype. The findings of an association between dietary calcium intake and BMD only in the bb genotype group suggests that the VDR genotype may play a role in the absorption of dietary calcium. Studies that do not consider calcium intake may not detect associations between VDR genotype and BMD. In addition, the association between VDR alleles and BMD may become less evident in older subjects. 相似文献
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Starting with total RNA from spermatogenic cells of Mytilus trossulus and using random priming, we have cloned and sequenced the c-DNAs corresponding to two variants of the sperm-specific protein PLII* (phi 2B). DNA sequencing in conjunction with mass spectrometry and protein sequence data have allowed us to establish that of the three sperm-specific proteins present in the sperm of Mytilus (PL-II*(phi 2B), PL-III (phi 1), PL-IV (phi 3)), the first and the last one are the result of post-translational cleavage of a common precursor. This common precursor is a member of the histone H1 family, and it exhibits inter- and intraspecific microheterogeneity. 相似文献
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Reddy C.J. Deshpande M.D. Cockrell C.R. Beck F.B. 《Antennas and Propagation, IEEE Transactions on》1998,46(8):1229-1233
The method of moments (MoM) in conjunction with the asymptotic waveform evaluation (AWE) technique is applied to obtain the radar cross section (RCS) of an arbitrarily shaped three-dimensional (3-D) perfect electric conductor (PEC) body over a frequency band. The electric field integral equation (EFIE) is solved using the MoM to obtain the equivalent surface current on the PEC body. In the AWE technique, the equivalent surface current is expanded in a Taylor's series around a frequency in the desired frequency band. The Taylor series coefficients are then matched via the Pade approximation to a rational function. Using the rational function, the surface current is obtained at any frequency within the frequency range, which is in turn used to calculate the RCS of the 3-D PEC body. A rational function approximation is also obtained using the model-based parameter estimation (MBPE) method and compared with the Pade approximation. Numerical results for a square plate, a cube, and a sphere are presented over a frequency bandwidth. Good agreement between the AWE and the exact solution over the bandwidth is observed 相似文献
69.
Chondromas are benign tumours of cartilage which are rare in the head and neck. We present a case report of a chondroma in the neck of condyle and demonstrate the value of multiplanar spiral CT and the limitations of 3D reconstruction. 相似文献
70.
A novel processing technology was developed to investigate in situ synthesis of TiC-Al (Ti) nanocomposite powders by thermal plasma technology. Thermodynamic analysis was performed to predict
possible starting materials and synthesizing conditions of TiC-Al (Ti) nanocomposite powders. A mathematical model was developed
to describe temperature profile and velocity distribution in the reactor. The model is applied to optimize feeding rate, input
power, and other processing parameters of TiC-Al (Ti) nanocomposite powders by thermal plasma technology, and to predict which
materials can be used as starting materials. This paper emphasizes the investigation of the effect of feeding rate, input
power, mole ratio, and other process parameters on synthesis of TiC-Al (Ti) nanocomposite powders by thermal plasma technology.
The experimental results showed that TiC-Al (Ti) nanocomposite powders can be synthesized in situ by thermal plasma technology, and the average size of TiC-Al (Ti) nanocomposite powders was less than 100 nm. 相似文献