排序方式: 共有40条查询结果,搜索用时 15 毫秒
31.
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 总被引:1,自引:0,他引:1
Zara F Biancheri R Bruno C Bordo L Assereto S Gazzerro E Sotgia F Wang XB Gianotti S Stringara S Pedemonte M Uziel G Rossi A Schenone A Tortori-Donati P van der Knaap MS Lisanti MP Minetti C 《Nature genetics》2006,38(10):1111-1113
We describe a new autosomal recessive white matter disorder ('hypomyelination and congenital cataract') characterized by hypomyelination of the central and peripheral nervous system, progressive neurological impairment and congenital cataract. We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination. 相似文献
32.
Gieger C Radhakrishnan A Cvejic A Tang W Porcu E Pistis G Serbanovic-Canic J Elling U Goodall AH Labrune Y Lopez LM Mägi R Meacham S Okada Y Pirastu N Sorice R Teumer A Voss K Zhang W Ramirez-Solis R Bis JC Ellinghaus D Gögele M Hottenga JJ Langenberg C Kovacs P O'Reilly PF Shin SY Esko T Hartiala J Kanoni S Murgia F Parsa A Stephens J van der Harst P Ellen van der Schoot C Allayee H Attwood A Balkau B Bastardot F Basu S Baumeister SE Biino G Bomba L Bonnefond A Cambien F Chambers JC Cucca F 《Nature》2011,480(7376):201-208
Platelets are the second most abundant cell type in blood and are essential for maintaining haemostasis. Their count and volume are tightly controlled within narrow physiological ranges, but there is only limited understanding of the molecular processes controlling both traits. Here we carried out a high-powered meta-analysis of genome-wide association studies (GWAS) in up to 66,867 individuals of European ancestry, followed by extensive biological and functional assessment. We identified 68 genomic loci reliably associated with platelet count and volume mapping to established and putative novel regulators of megakaryopoiesis and platelet formation. These genes show megakaryocyte-specific gene expression patterns and extensive network connectivity. Using gene silencing in Danio rerio and Drosophila melanogaster, we identified 11 of the genes as novel regulators of blood cell formation. Taken together, our findings advance understanding of novel gene functions controlling fate-determining events during megakaryopoiesis and platelet formation, providing a new example of successful translation of GWAS to function. 相似文献
33.
Gustavo E. Romero Daniela Pérez Federico G. López Armengol 《Foundations of Science》2018,23(2):415-426
Macroscopic irreversible processes emerge from fundamental physical laws of reversible character. The source of the local irreversibility seems to be not in the laws themselves but in the initial and boundary conditions of the equations that represent the laws. In this work we propose that the screening of currents by black hole event horizons determines, locally, a preferred direction for the flux of electromagnetic energy. We study the growth of black hole event horizons due to the cosmological expansion and accretion of cosmic microwave background radiation, for different cosmological models. We propose generalized McVittie co-moving metrics and integrate the rate of accretion of cosmic microwave background radiation onto a supermassive black hole over cosmic time. We find that for flat, open, and closed Friedmann cosmological models, the ratio of the total area of the black hole event horizons with respect to the area of a radial co-moving space-like hypersurface always increases. Since accretion of cosmic radiation sets an absolute lower limit to the total matter accreted by black holes, this implies that the causal past and future are not mirror symmetric for any spacetime event. The asymmetry causes a net Poynting flux in the global future direction; the latter is in turn related to the ever increasing thermodynamic entropy. Thus, we expose a connection between four different “time arrows”: cosmological, electromagnetic, gravitational, and thermodynamic. 相似文献
34.
Identifying composite crosscutting concerns(CCs) is a research task and challenge of aspect mining.In this paper,we propose a scatter-based graph clustering approach to identify composite CCs.Inspired by the state-of-the-art link analysis tech-niques,we propose a two-state model to approximate how CCs tangle with core modules.According to this model,we obtain scatter and centralization scores for each program element.Espe-cially,the scatter scores are adopted to select CC seeds.Further-more,to identify composite CCs,we adopt a novel similarity measurement and develop an undirected graph clustering to group these seeds.Finally,we compare it with the previous work and illustrate its effectiveness in identifying composite CCs. 相似文献
35.
Human gut microbiome viewed across age and geography 总被引:2,自引:0,他引:2
Yatsunenko T Rey FE Manary MJ Trehan I Dominguez-Bello MG Contreras M Magris M Hidalgo G Baldassano RN Anokhin AP Heath AC Warner B Reeder J Kuczynski J Caporaso JG Lozupone CA Lauber C Clemente JC Knights D Knight R Gordon JI 《Nature》2012,486(7402):222-227
Gut microbial communities represent one source of human genetic and metabolic diversity. To examine how gut microbiomes differ among human populations, here we characterize bacterial species in fecal samples from 531 individuals, plus the gene content of 110 of them. The cohort encompassed healthy children and adults from the Amazonas of Venezuela, rural Malawi and US metropolitan areas and included mono- and dizygotic twins. Shared features of the functional maturation of the gut microbiome were identified during the first three years of life in all three populations, including age-associated changes in the genes involved in vitamin biosynthesis and metabolism. Pronounced differences in bacterial assemblages and functional gene repertoires were noted between US residents and those in the other two countries. These distinctive features are evident in early infancy as well as adulthood. Our findings underscore the need to consider the microbiome when evaluating human development, nutritional needs, physiological variations and the impact of westernization. 相似文献
36.
37.
Among the group IV elements, only carbon forms stable double bonds with oxygen at ambient conditions. At variance with silica and germania, the non-molecular single-bonded crystalline form of carbon dioxide, phase V, only exists at high pressure. The amorphous forms of silica (a-SiO2) and germania (a-GeO2) are well known at ambient conditions; however, the amorphous, non-molecular form of CO2 has so far been described only as a result of first-principles simulations. Here we report the synthesis of an amorphous, silica-like form of carbon dioxide, a-CO2, which we call 'a-carbonia'. The compression of the molecular phase III of CO2 between 40 and 48 GPa at room temperature initiated the transformation to the non-molecular amorphous phase. Infrared spectra measured at temperatures up to 680 K show the progressive formation of C-O single bonds and the simultaneous disappearance of all molecular signatures. Furthermore, state-of-the-art Raman and synchrotron X-ray diffraction measurements on temperature-quenched samples confirm the amorphous character of the material. Comparison with vibrational and diffraction data for a-SiO2 and a-GeO2, as well as with the structure factor calculated for the a-CO2 sample obtained by first-principles molecular dynamics, shows that a-CO2 is structurally homologous to the other group IV dioxide glasses. We therefore conclude that the class of archetypal network-forming disordered systems, including a-SiO2, a-GeO2 and water, must be extended to include a-CO2. 相似文献
38.
de Oliveira T Pybus OG Rambaut A Salemi M Cassol S Ciccozzi M Rezza G Gattinara GC D'Arrigo R Amicosante M Perrin L Colizzi V Perno CF;Benghazi Study Group 《Nature》2006,444(7121):836-837
In 1998, outbreaks of human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV) infection were reported in children attending Al-Fateh Hospital in Benghazi, Libya. Here we use molecular phylogenetic techniques to analyse new virus sequences from these outbreaks. We find that the HIV-1 and HCV strains were already circulating and prevalent in this hospital and its environs before the arrival in March 1998 of the foreign medical staff (five Bulgarian nurses and a Palestinian doctor) who stand accused of transmitting the HIV strain to the children. 相似文献
39.
The fundamental mechanism behind laser action leads in general only to narrowband, single-wavelength emission. Several approaches for achieving spectrally broadband laser action have been put forward, such as enhancing the optical feedback in the wings of the gain spectrum, multi-peaked gain spectra, and the most favoured technique at present, ultrashort pulse excitation. Each of these approaches has drawbacks, such as a complex external laser cavity configuration, a non-flat optical gain envelope function, or an inability to operate in continuous mode, respectively. Here we present a monolithic, mid-infrared 'supercontinuum' semiconductor laser that has none of these drawbacks. We adopt a quantum cascade configuration, where a number of dissimilar intersubband optical transitions are made to cooperate in order to provide broadband optical gain from 5 to 8 microm wavelength. Laser action with a Fabry-Pérot spectrum covering all wavelengths from 6 to 8 microm simultaneously is demonstrated with this approach. Lasers that emit light over such an extremely wide wavelength range are of interest for applications as varied as terabit optical data communications or ultra-precision metrology and spectroscopy. 相似文献
40.
Magnani F Mencuccini M Borghetti M Berbigier P Berninger F Delzon S Grelle A Hari P Jarvis PG Kolari P Kowalski AS Lankreijer H Law BE Lindroth A Loustau D Manca G Moncrieff JB Rayment M Tedeschi V Valentini R Grace J 《Nature》2007,447(7146):848-850
Temperate and boreal forests in the Northern Hemisphere cover an area of about 2 x 10(7) square kilometres and act as a substantial carbon sink (0.6-0.7 petagrams of carbon per year). Although forest expansion following agricultural abandonment is certainly responsible for an important fraction of this carbon sink activity, the additional effects on the carbon balance of established forests of increased atmospheric carbon dioxide, increasing temperatures, changes in management practices and nitrogen deposition are difficult to disentangle, despite an extensive network of measurement stations. The relevance of this measurement effort has also been questioned, because spot measurements fail to take into account the role of disturbances, either natural (fire, pests, windstorms) or anthropogenic (forest harvesting). Here we show that the temporal dynamics following stand-replacing disturbances do indeed account for a very large fraction of the overall variability in forest carbon sequestration. After the confounding effects of disturbance have been factored out, however, forest net carbon sequestration is found to be overwhelmingly driven by nitrogen deposition, largely the result of anthropogenic activities. The effect is always positive over the range of nitrogen deposition covered by currently available data sets, casting doubts on the risk of widespread ecosystem nitrogen saturation under natural conditions. The results demonstrate that mankind is ultimately controlling the carbon balance of temperate and boreal forests, either directly (through forest management) or indirectly (through nitrogen deposition). 相似文献