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191.
Rieger syndrome: a clinical, molecular, and biochemical analysis 总被引:6,自引:0,他引:6
192.
1 Introduction Metal, metal oxide and metal compound nanoparticles (NPs) received considerable attention due to their unique properties: catalytic, magnetic, optical, electronic, etc. We believe that for different applications, there are preferable morphologies of NP-stabilizing medium composites. For example, small (1-3 nm) nanoparticles formed in micro/mesoporous hypercrosslinked polystyrene demonstrate excellent catalytic properties in various hydrogenation and oxidation reactions due to high surface... 相似文献
193.
Döring A Gieger C Mehta D Gohlke H Prokisch H Coassin S Fischer G Henke K Klopp N Kronenberg F Paulweber B Pfeufer A Rosskopf D Völzke H Illig T Meitinger T Wichmann HE Meisinger C 《Nature genetics》2008,40(4):430-436
Serum uric acid concentrations are correlated with gout and clinical entities such as cardiovascular disease and diabetes. In the genome-wide association study KORA (Kooperative Gesundheitsforschung in der Region Augsburg) F3 500K (n = 1,644), the most significant SNPs associated with uric acid concentrations mapped within introns 4 and 6 of SLC2A9, a gene encoding a putative hexose transporter (effects: -0.23 to -0.36 mg/dl per copy of the minor allele). We replicated these findings in three independent samples from Germany (KORA S4 and SHIP (Study of Health in Pomerania)) and Austria (SAPHIR; Salzburg Atherosclerosis Prevention Program in Subjects at High Individual Risk), with P values ranging from 1.2 x 10(-8) to 1.0 x 10(-32). Analysis of whole blood RNA expression profiles from a KORA F3 500K subgroup (n = 117) showed a significant association between the SLC2A9 isoform 2 and urate concentrations. The SLC2A9 genotypes also showed significant association with self-reported gout. The proportion of the variance of serum uric acid concentrations explained by genotypes was about 1.2% in men and 6% in women, and the percentage accounted for by expression levels was 3.5% in men and 15% in women. 相似文献
194.
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion 总被引:17,自引:0,他引:17
Potocki L Chen KS Park SS Osterholm DE Withers MA Kimonis V Summers AM Meschino WS Anyane-Yeboa K Kashork CD Shaffer LG Lupski JR 《Nature genetics》2000,24(1):84-87
Recombination between repeated sequences at various loci of the human genome are known to give rise to DNA rearrangements associated with many genetic disorders. Perhaps the most extensively characterized genomic region prone to rearrangement is 17p12, which is associated with the peripheral neuropathies, hereditary neuropathy with liability to pressure palsies (HNPP) and Charcot-Marie-Tooth disease type 1A (CMT1A;ref. 2). Homologous recombination between 24-kb flanking repeats, termed CMT1A-REPs, results in a 1.5-Mb deletion that is associated with HNPP, and the reciprocal duplication product is associated with CMT1A (ref. 2). Smith-Magenis syndrome (SMS) is a multiple congenital anomalies, mental retardation syndrome associated with a chromosome 17 microdeletion, del(17)(p11.2p11.2) (ref. 3,4). Most patients (>90%) carry deletions of the same genetic markers and define a common deletion. We report seven unrelated patients with de novo duplications of the same region deleted in SMS. A unique junction fragment, of the same apparent size, was identified in each patient by pulsed field gel electrophoresis (PFGE). Further molecular analyses suggest that the de novo17p11.2 duplication is preferentially paternal in origin, arises from unequal crossing over due to homologous recombination between flanking repeat gene clusters and probably represents the reciprocal recombination product of the SMS deletion. The clinical phenotype resulting from duplication [dup(17)(p11.2p11.2)] is milder than that associated with deficiency of this genomic region. This mechanism of reciprocal deletion and duplication via homologous recombination may not only pertain to the 17p11.2 region, but may also be common to other regions of the genome where interstitial microdeletion syndromes have been defined. 相似文献
195.
196.
197.
V. R. Osório E Castro M. G. P. Vale A. P. Carvalho 《Cellular and molecular life sciences : CMLS》1976,32(4):424-426
Summary The effect of the antibiotic X-537A on the phosphorylated ATPase (EP) was investigated. The results show that X-537A depresses the level of EP which is dependent on the Ca2+ gradient, while the Ca2+-independent EP is not affected.
Acknowledgments. This work was supported by grants from the Instituto de Alta Cultura of the Portuguese Ministry of Education (No. CB/2) and the Calouste Gulbenkian Foundation. 相似文献
198.
V. Lattanzio V. V. Bianco D. Lafiandra 《Cellular and molecular life sciences : CMLS》1982,38(7):789-790
Summary A HPLC assay for L-Dopa, convicine, and vicine in broad-bean extracts has been developed. The distribution of these compounds in the different organs of the plant has been studied, especially in the seeds, where their presence may cause favism if the beans are used as food.Work supported by C.N.R. through Progetto Finalizzato Miglioramento delle produzioni vegetali per fini alimentari ed industriali mediante interventi genetici. Sottogrogetto leguminose da granella. Paper No. 200. 相似文献
199.
V. Pli<ska 《Cellular and molecular life sciences : CMLS》1991,47(3):216-221
Summary Binding studies in various biological systems frequently indicate the presence of several binding sites for a biologically active ligand. They differ in their affinity for the ligand in question, binding capacity, and Hill coefficient, which suggests differences in the mechanisms of the binding site-ligand interactions. Identification of the true receptors (sites initiating a cellular response) appears to be difficult. Three clusters of binding sites for oxytocin were found on rat myometrial cells. The oxytocin receptor seems to be linked to the medium-affinity site; the cooperation between the high-and medium-affinity sites in eliciting the uterotonic response seems likely, but lacks experimental proof. Dose-response analysis in partially irreversibly inhibited uterus preparations, the method of equipotent doses (Furchgott-Bursztyn method), and structure-activity analysis of oxytocin-like peptides acting as competitive inhibitors of oxytocin, turned out to be suitable for pharmacological analysis of this receptor system. 相似文献
200.
J C Chabala V B Waits T Ikeler A A Patchett L Payne L H Peterson R A Reamer K Hoogsteen M Wyvratt W L Hanson 《Experientia》1991,47(1):51-53
1-(Substituted)benzyl-5-aminoimidazole-4-carboxamides are potent orally active inhibitors of Trypanosoma cruzi infections in mice. The most active compounds are the 1-(4-chlorobenzyl)- and 1-(3,4-dichlorobenzyl)-analogs (L-153,094 [2] and L-153,153 [4], resp.) which are approximately 7-fold more potent upon oral administration than nifurtimox (Lampit) in suppressing parasite levels in the blood of mice with acute Trypanosoma cruzi infections. 相似文献