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Pelger-Hu?t anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy and skeletal abnormalities. Homozygous offspring in an extinct rabbit lineage showed severe chondrodystrophy, developmental anomalies and increased pre- and postnatal mortality. Here we show, by carrying out a genome-wide linkage scan, that PHA is linked to chromosome 1q41-43. We identified four splice-site, two frameshift and two nonsense mutations in LBR, encoding the lamin B receptor. The lamin B receptor (LBR), a member of the sterol reductase family, is evolutionarily conserved and integral to the inner nuclear membrane; it targets heterochromatin and lamins to the nuclear membrane. Lymphoblastoid cells from heterozygous individuals affected with PHA show reduced expression of the lamin B receptor, and cells homozygous with respect to PHA contain only trace amounts of it. We found that expression of the lamin B receptor affects neutrophil nuclear shape and chromatin distribution in a dose-dependent manner. Our findings have implications for understanding nuclear envelope-heterochromatin interactions, the pathogenesis of Pelger-like conditions in leukemia, infection and toxic drug reactions, and the evolution of neutrophil nuclear shape.  相似文献   
2.
Bedigian HG  Shultz LD  Meier H 《Nature》1979,279(5712):434-436
MICE of the AKR/J strain show high rates of spontaneous thymic lymphoma and are chronically infected with murine leukaemia viruses. Total thymectomy in young mice of this strain results in a marked decrease in the incidence of leukaemia. The finding of athymic mutant mice on the AKR/J background (referred to as streaker mice) is of importance in the study of genetic factors which influence virus expression and leukaemogenesis. Here we report that mice of both normal and mutant genotypes vary in the expression of a particular class of murine leukaemia virus. This lower virus expression in conjunction with the absence of a thymus leads to a lower tumour incidence in streaker mice.  相似文献   
3.
Stepwise evolution of stable sociality in primates   总被引:1,自引:0,他引:1  
Shultz S  Opie C  Atkinson QD 《Nature》2011,479(7372):219-222
Although much attention has been focused on explaining and describing the diversity of social grouping patterns among primates, less effort has been devoted to understanding the evolutionary history of social living. This is partly because social behaviours do not fossilize, making it difficult to infer changes over evolutionary time. However, primate social behaviour shows strong evidence for phylogenetic inertia, permitting the use of Bayesian comparative methods to infer changes in social behaviour through time, thereby allowing us to evaluate alternative models of social evolution. Here we present a model of primate social evolution, whereby sociality progresses from solitary foraging individuals directly to large multi-male/multi-female aggregations (approximately 52 million years (Myr) ago), with pair-living (approximately 16?Myr ago) or single-male harem systems (approximately 16?Myr ago) derivative from this second stage. This model fits the data significantly better than the two widely accepted alternatives (an unstructured model implied by the socioecological hypothesis or a model that allows linear stepwise changes in social complexity through time). We also find strong support for the co-evolution of social living with a change from nocturnal to diurnal activity patterns, but not with sex-biased dispersal. This supports suggestions that social living may arise because of increased predation risk associated with diurnal activity. Sociality based on loose aggregation is followed by a second shift to stable or bonded groups. This structuring facilitates the evolution of cooperative behaviours and may provide the scaffold for other distinctive anthropoid traits including coalition formation, cooperative resource defence and large brains.  相似文献   
4.
Locations of 73,219 vascular plant vouchers representing 2438 species were digitized from the Atlas of the Vascular Plants of Utah (Albee et al. 1988). Source maps consist of 1:6,000,000-scale shaded relief maps of Utah with points representing collection locations by species. Location points, representing 1 or more specimens, were transposed onto these maps from the approximately 400,000 herbarium records of 3 major universities and federal land management agencies. These source maps were digitized into an ARC/Info TM database in order to reproduce the atlas in digital form. Analysis of all locations revealed a mapping bias of the original authors to avoid placing sample locations on county boundaries and over major river corridors. A comparison between ecoregions and elevation showed that the Colorado Plateau and Wasatch/Uinta Mountains have the highest species diversity, and that areas of low elevation (1000-2000 m) have the highest number of unique species in the state. Further, species richness is related to elevation and to ecoregion boundaries.  相似文献   
5.
Gamma-interferon is one of several direct B cell-maturing lymphokines   总被引:1,自引:0,他引:1  
Two classes of molecules often released after the interaction of T lymphocytes, macrophages and antigen are B-cell maturation factors (BMF)1-3 and immune (gamma) interferon (IFN-gamma)4-7. BMFs directly induce the maturation of resting B lymphocytes to the state of active immunoglobulin secretion, while IFN-gamma is defined by the reduction of viral infectivity in vitro. However, interferons have been shown to have a variety of effects and they have also been reported both to increase and decrease B-cell differentiation in intact animals and complex cellular mixtures in vitro. Here we show that murine IFN-gamma produced by recombinant DNA technology shows similar biological effects to BMFs from two other sources. All three preparations induce immunoglobulin secretion by both normal resting murine splenic B cells and the comparable B-cell tumour line WEHI-279.1 (refs 1, 3). IFN-gamma and the other two BMFs are not identical, however, as anti-IFN-gamma antibodies block the effects on B cells of IFN-gamma, but not those of the other two lymphokines. IFN-gamma may be one of several molecules with a direct role in driving the maturation of resting B cells to active immunoglobulin secretion.  相似文献   
6.
In this 2-phase study, we developed field-validated site and landscape-level predictive models for identifying potential rare and endemic plant habitat in the Great Basin of western North America. Four species were chosen to include a range of environmental variability and plant communities. Herbarium records of known occurrences were used to identify initial sample sites. The geographic coordinates, environmental attributes, and vegetation data collected at each site were used to develop 2 predictive models for each species: a field key and a probability-of-occurrence or predictor map. The field key was developed using only field data collected at the sites on environmental attributes and associated species. Predictive maps were developed with a geographic information system (GIS) containing slope, elevation, aspect, soils, and geologic data. Classification-tree (CT) software was used to generate dichotomous field keys and maps of occurrence probabilities. Predictions from both models were then field-validated during the 2nd phase of the study, and final models were developed through an iterative process, in which data collected during the field validation were incorporated into subsequent predictive models. Cross-validated models were >96% accurate and generally predicted presence with >60% accuracy. These models identified potential habitat by combining elevation, slope, aspect, rock type, and geologic process into habitat models for each species. ACRONYMS.—CEC—cation exchange capacity, CT—classification tree, DEM—digital elevation model, GAM—generalized additive model, GIS—geographic information system, GLM—generalized linear model, GPS—geographic positioning system, ROC—receiver operating curves, STATSGO—State Soil Geographic Database, USGS—United States Geological Survey, UTM—Universal Transverse Mercator. Nomenclature and distributions: Welsh et al. 2003, Shultz et al. 2005.  相似文献   
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Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} The vascular flora of the Orange Cliffs area, defined here as part of the Colorado Plateau floristic province, harbors approximately 209 species in 123 genera and 49 families. A species checklist is provided with a discussion of physical and floristic aspects of the region. The flora is compared statistically to the San Rafael Swell flora, which is also a subset of the Colorado Plateau. We define six vegetation types and three edaphic communities; these are described and mapped. Of eleven endemic plant species in the Orange Cliffs, three are local and rare. Sites for Astragalus nidularius, A. moencoppensis, and Xylorhiza glabriuscula var. linearifolia are discussed and mapped.  相似文献   
8.
Mice homozygous for the recessive mutation osteopetrosis (op) on chromosome 3 have a restricted capacity for bone remodelling, and are severely deficient in mature macrophages and osteoclasts. Both cell populations originate from a common haemopoietic progenitor. As op/op mice are not cured by transplants of normal bone marrow cells, the defects in op/op mice may be associated with an abnormal haematopoietic microenvironment rather than with an intrinsic defect in haematopoietic progenitors. To investigate the molecular and biochemical basis of the defects caused by the op mutation, we established primary fibroblast cell lines from op/op mice and tested the ability of these cell lines to support the proliferation of macrophage progenitors. We show that op/op fibroblasts are defective in production of functional macrophage colony-stimulating factor (M-CSF), although its messenger RNA (Csfm mRNA) is present at normal levels. This defect in M-CSF production and the recent mapping of the Csfm structural gene near op on chromosome 3 suggest that op is a mutation within the Csfm gene itself. We have sequenced Csfm complementary DNA prepared from op/op fibroblasts and found a single base pair insertion in the coding region of the Csfm gene that generates a stop codon 21 base pairs downstream. Thus, the op mutation is within the Csfm coding region and we conclude that the pathological changes in this mutant result from the absence of M-CSF.  相似文献   
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