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The testosterone level has an inverse relation to activity in the open-field test. This is more important in red light than in white light. Pineal indols do not disturb this action. Some of these results are consistent with the assumption that androgens play a role on the exploratory activity of adult subjects. 相似文献
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Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction 总被引:9,自引:0,他引:9
Raeder H Johansson S Holm PI Haldorsen IS Mas E Sbarra V Nermoen I Eide SA Grevle L Bjørkhaug L Sagen JV Aksnes L Søvik O Lombardo D Molven A Njølstad PR 《Nature genetics》2006,38(1):54-62
Dysfunction of the exocrine pancreas is observed in diabetes, but links between concurrent exocrine and endocrine pancreatic disease and contributing genetic factors are poorly characterized. We studied two families with diabetes and exocrine pancreatic dysfunction by genetic, physiological and in vitro functional studies. A genome-wide screen in Family 1 linked diabetes to chromosome 9q34 (maximal lod score 5.07). Using fecal elastase deficiency as a marker of exocrine pancreatic dysfunction refined the critical chromosomal region to 1.16 Mb (maximal lod score 11.6). Here, we identified a single-base deletion in the variable number of tandem repeats (VNTR)-containing exon 11 of the carboxyl ester lipase (CEL) gene, a major component of pancreatic juice and responsible for the duodenal hydrolysis of cholesterol esters. Screening subjects with maturity-onset diabetes of the young identified Family 2, with another single-base deletion in CEL and a similar phenotype with beta-cell failure and pancreatic exocrine disease. The in vitro catalytic activities of wild-type and mutant CEL protein were comparable. The mutant enzyme was, however, less stable and secreted at a lower rate. Furthermore, we found some evidence for an association between common insertions in the CEL VNTR and exocrine dysfunction in a group of 182 unrelated subjects with diabetes (odds ratio 4.2 (1.6, 11.5)). Our findings link diabetes to the disrupted function of a lipase in the pancreatic acinar cells. 相似文献
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Durand CM Betancur C Boeckers TM Bockmann J Chaste P Fauchereau F Nygren G Rastam M Gillberg IC Anckarsäter H Sponheim E Goubran-Botros H Delorme R Chabane N Mouren-Simeoni MC de Mas P Bieth E Rogé B Héron D Burglen L Gillberg C Leboyer M Bourgeron T 《Nature genetics》2007,39(1):25-27
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders. 相似文献
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Negre C Zahn R Thomas AL Masqué P Henderson GM Martínez-Méndez G Hall IR Mas JL 《Nature》2010,468(7320):84-88
The meridional overturning circulation (MOC) of the Atlantic Ocean is considered to be one of the most important components of the climate system. This is because its warm surface currents, such as the Gulf Stream, redistribute huge amounts of energy from tropical to high latitudes and influence regional weather and climate patterns, whereas its lower limb ventilates the deep ocean and affects the storage of carbon in the abyss, away from the atmosphere. Despite its significance for future climate, the operation of the MOC under contrasting climates of the past remains controversial. Nutrient-based proxies and recent model simulations indicate that during the Last Glacial Maximum the convective activity in the North Atlantic Ocean was much weaker than at present. In contrast, rate-sensitive radiogenic (231)Pa/(230)Th isotope ratios from the North Atlantic have been interpreted to indicate only minor changes in MOC strength. Here we show that the basin-scale abyssal circulation of the Atlantic Ocean was probably reversed during the Last Glacial Maximum and was dominated by northward water flow from the Southern Ocean. These conclusions are based on new high-resolution data from the South Atlantic Ocean that establish the basin-scale north to south gradient in (231)Pa/(230)Th, and thus the direction of the deep ocean circulation. Our findings are consistent with nutrient-based proxies and argue that further analysis of (231)Pa/(230)Th outside the North Atlantic basin will enhance our understanding of past ocean circulation, provided that spatial gradients are carefully considered. This broader perspective suggests that the modern pattern of the Atlantic MOC-with a prominent southerly flow of deep waters originating in the North Atlantic-arose only during the Holocene epoch. 相似文献
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Pericytes regulate the blood-brain barrier 总被引:2,自引:0,他引:2
Armulik A Genové G Mäe M Nisancioglu MH Wallgard E Niaudet C He L Norlin J Lindblom P Strittmatter K Johansson BR Betsholtz C 《Nature》2010,468(7323):557-561
The blood-brain barrier (BBB) consists of specific physical barriers, enzymes and transporters, which together maintain the necessary extracellular environment of the central nervous system (CNS). The main physical barrier is found in the CNS endothelial cell, and depends on continuous complexes of tight junctions combined with reduced vesicular transport. Other possible constituents of the BBB include extracellular matrix, astrocytes and pericytes, but the relative contribution of these different components to the BBB remains largely unknown. Here we demonstrate a direct role of pericytes at the BBB in vivo. Using a set of adult viable pericyte-deficient mouse mutants we show that pericyte deficiency increases the permeability of the BBB to water and a range of low-molecular-mass and high-molecular-mass tracers. The increased permeability occurs by endothelial transcytosis, a process that is rapidly arrested by the drug imatinib. Furthermore, we show that pericytes function at the BBB in at least two ways: by regulating BBB-specific gene expression patterns in endothelial cells, and by inducing polarization of astrocyte end-feet surrounding CNS blood vessels. Our results indicate a novel and critical role for pericytes in the integration of endothelial and astrocyte functions at the neurovascular unit, and in the regulation of the BBB. 相似文献
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Patel NA Curiel S Sridharan TK Zhang Q Hunter TR Ho PT Torrelles JM Moran JM Gómez JF Anglada G 《Nature》2005,437(7055):109-111
The processes leading to the birth of low-mass stars such as our Sun have been well studied, but the formation of high-mass (over eight times the Sun's mass, M(o)) stars remains poorly understood. Recent studies suggest that high-mass stars may form through accretion of material from a circumstellar disk, in essentially the same way as low-mass stars form, rather than through the merging of several low-mass stars. There is as yet, however, no conclusive evidence. Here we report the presence of a flattened disk-like structure around a massive 15M(o) protostar in the Cepheus A region, based on observations of continuum emission from the dust and line emission from the molecular gas. The disk has a radius of about 330 astronomical units (Au) and a mass of 1 to 8 M(o). It is oriented perpendicular to, and spatially coincident with, the central embedded powerful bipolar radio jet, just as is the case with low-mass stars, from which we conclude that high-mass stars can form through accretion. 相似文献
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M. Rodriguez J. Sosa G. Hernandez M. Mas 《Cellular and molecular life sciences : CMLS》1984,40(4):397-398
Summary The testosterone level has an inverse relation to activity in the open-field test. This is more important in red light than in white light. Pineal indols do not disturb this action. Some of these results are consistent with the assumption that androgens play a role on the exploratory activity of adult subjects. 相似文献