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121.
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1 总被引:8,自引:0,他引:8
Aminoff M Carter JE Chadwick RB Johnson C Gräsbeck R Abdelaal MA Broch H Jenner LB Verroust PJ Moestrup SK de la Chapelle A Krahe R 《Nature genetics》1999,21(3):309-313
Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile megaloblastic anaemia, as well as neurological symptoms that may be the only manifestations. At the cellular level, MGA1 is characterized by selective intestinal vitamin B12 (B12, cobalamin) malabsorption. MGA1 occurs worldwide, but its prevalence is higher in several Middle Eastern countries and Norway, and highest in Finland (0.8/100,000). We previously mapped the MGA1 locus by linkage analysis in Finnish and Norwegian families to a 6-cM region on chromosome 10p12.1 (ref. 8). A functional candidate gene encoding the intrinsic factor (IF)-B12 receptor, cubilin, was recently cloned; the human homologue, CUBN, was mapped to the same region. We have now refined the MGA1 region by linkage disequilibrium (LD) mapping, fine-mapped CUBN and identified two independent disease-specific CUBN mutations in 17 Finnish MGA1 families. Our genetic and molecular data indicate that mutations in CUBN cause MGA1. 相似文献
122.
Summary Using two independent techniques, ultracentrifugation in a KBr-gradient, and native pore polyacrylamide gel electrophoresis in combination with [3H]-epoxyfarnesyldiazoacetate photoaffinity labeling, we showed that in the hemolymph ofPeriplaneta americana, and probably also inLeptinotarsa decemlineata JH-III binds to the lipophorin, whereas inLocusta migratoria JH-III binds to a different protein. 相似文献
123.
There is now good evidence that cytoplasmic pH (pHi) may have an important role in the metabolic activation of quiescent cells. In particular, growth stimulation of mammalian fibroblasts leads to a rapid increase in pHi (refs 3-6), due to activation of a Na+/H+ exchanger in the plasma membrane, and this alkalinization is necessary for the initiation of DNA synthesis. However, the mechanism by which mitogens activate the Na+/H+ exchanger to raise pHi is not known, although an increase in cytoplasmic free Ca2+ ([Ca2+]i) has been postulated as the primary trigger. We now present data suggesting that the Na+/H+ exchanger is set in motion through protein kinase C, a phospholipid- and Ca2+-dependent enzyme normally activated by diacylglycerol produced from inositol phospholipids in response to external stimuli. Using newly developed pH microelectrodes and fluorimetric techniques, we show that a tumour promoting phorbol ester and synthetic diacylglycerol, both potent activators of kinase C (refs 12-15), mimic the action of mitogens in rapidly elevating pHi in different cell types. Furthermore, we demonstrate that, contrary to previous views, an early rise in [Ca2+]i is not essential for the activation of Na+/H+ exchange and the resultant increase in pHi. Finally, we suggest that an alkaline pHi shift, mediated by Na+/H+ exchange, may be a common signal in the action of those hormones which elicit the breakdown of inositol phospholipids. 相似文献
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F. B. de Jorge J. A. Petersen A. S. F. Ditadi 《Cellular and molecular life sciences : CMLS》1970,26(1):41-43
Résumé Pendant l'hibernation, leStrophocheilus (Pulmoné, Mollusque) perd de l'eau, du sodium, du calciun, du magnésium, du soufre, du cuivre, du fer et des carbohydrates totaux, mais son taux de potassium et d'iode augmente. En état d'estivation, il y en a perte d'eau, de sodium, de magnésium, de cuivre, de fer et de carbohydrates totaux, mais accumulation de calcium. 相似文献
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128.
S. Barrigón J. Tamargo P. D. Garcia de Jalón 《Cellular and molecular life sciences : CMLS》1978,34(6):770-770
Summary Bunaphtide induces a blockade in the3H-norepinephrine uptake and retention in the isolated guinea-pig left atrium. However, this blockade does not seems to be related with the cardiodepressant effect of the drug. 相似文献
129.
Carcinogenic nitrosamines formed by drug-nitrite interactions 总被引:3,自引:0,他引:3
130.