排序方式: 共有44条查询结果,搜索用时 15 毫秒
11.
Gissen P Johnson CA Morgan NV Stapelbroek JM Forshew T Cooper WN McKiernan PJ Klomp LW Morris AA Wraith JE McClean P Lynch SA Thompson RJ Lo B Quarrell OW Di Rocco M Trembath RC Mandel H Wali S Karet FE Knisely AS Houwen RH Kelly DA Maher ER 《Nature genetics》2004,36(4):400-404
ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity. Platelet dysfunction is common. Affected infants do not thrive and usually die in the first year of life. To elucidate the molecular basis of ARC, we mapped the disease to a 7-cM interval on 15q26.1 and then identified germline mutations in the gene VPS33B in 14 kindreds with ARC. VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion. 相似文献
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Ruchaud-Sparagano MH Westley BR May FE 《Cellular and molecular life sciences : CMLS》2004,61(15):1946-1954
The trefoil protein TFF1 is expressed principally in the superficial cells of the gastric mucosa. It is a
small protein and forms homo- and hetero-dimers via a disulphide bond through Cys58 which is located three amino
acids from the C terminus. TFF1 is co-expressed with the secreted mucin MUC5AC in superficial cells of the gastric
mucosa suggesting that it could be involved in the packaging or function of gastric mucus. We have previously
shown that TFF1 co-sediments with mucin glycoproteins on caesium chloride gradients. To extend this observation
we have now used gel filtration under physiological conditions, immunoprecipitation and Western transfer analysis
to characterise the interaction of TFF1 with gastric mucin glycoproteins. We show that TFF1 co-elutes with MUC5AC
but not MUC6 on gel filtration and that immunoprecipitation and Western transfer analysis confirms that TFF1
interacts with MUC5AC. We also demonstrate that the TFF1 dimer is the predominant molecular form bound to MUC5AC.
Salt and chelators of divalent cations such as EDTA and EGTA disrupted the TFF1- MUC5AC interaction and increased
the degradation of MUC5AC, whereas calcium increased the amount of TFF1 bound to MUC5AC. These data support the
contention that TFF1 is pivotal in the packaging and function of human gastric mucusa.Received 24 March 2004; received after revision 14 May 2004; accepted 7 June 2004 相似文献
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White MD Bosio CM Duplantis BN Nano FE 《Cellular and molecular life sciences : CMLS》2011,68(18):3019-3031
Many of the live human and animal vaccines that are currently in use are attenuated by virtue of their temperature-sensitive
(TS) replication. These vaccines are able to function because they can take advantage of sites in mammalian bodies that are
cooler than the core temperature, where TS vaccines fail to replicate. In this article, we discuss the distribution of temperature
in the human body, and relate how the temperature differential can be exploited for designing and using TS vaccines. We also
examine how one of the coolest organs of the body, the skin, contains antigen-processing cells that can be targeted to provoke
the desired immune response from a TS vaccine. We describe traditional approaches to making TS vaccines, and highlight new
information and technologies that are being used to create a new generation of engineered TS vaccines. We pay particular attention
to the recently described technology of substituting essential genes from Arctic bacteria for their homologues in mammalian
pathogens as a way of creating TS vaccines. 相似文献
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Reconstructing the diets of extinct hominins is essential to understanding the paleobiology and evolutionary history of our lineage. Dental microwear, the study of microscopic tooth-wear resulting from use, provides direct evidence of what an individual ate in the past. Unfortunately, established methods of studying microwear are plagued with low repeatability and high observer error. Here we apply an objective, repeatable approach for studying three-dimensional microwear surface texture to extinct South African hominins. Scanning confocal microscopy together with scale-sensitive fractal analysis are used to characterize the complexity and anisotropy of microwear. Results for living primates show that this approach can distinguish among diets characterized by different fracture properties. When applied to hominins, microwear texture analysis indicates that Australopithecus africanus microwear is more anisotropic, but also more variable in anisotropy than Paranthropus robustus. This latter species has more complex microwear textures, but is also more variable in complexity than A. africanus. This suggests that A. africanus ate more tough foods and P. robustus consumed more hard and brittle items, but that both had variable and overlapping diets. 相似文献
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Burrows DN Kennea JA Ghisellini G Mangano V Zhang B Page KL Eracleous M Romano P Sakamoto T Falcone AD Osborne JP Campana S Beardmore AP Breeveld AA Chester MM Corbet R Covino S Cummings JR D'Avanzo P D'Elia V Esposito P Evans PA Fugazza D Gelbord JM Hiroi K Holland ST Huang KY Im M Israel G Jeon Y Jeon YB Jun HD Kawai N Kim JH Krimm HA Marshall FE P Mészáros Negoro H Omodei N Park WK Perkins JS Sugizaki M Sung HI Tagliaferri G Troja E Ueda Y Urata Y Usui R Antonelli LA Barthelmy SD Cusumano G 《Nature》2011,476(7361):421-424
Supermassive black holes have powerful gravitational fields with strong gradients that can destroy stars that get too close, producing a bright flare in ultraviolet and X-ray spectral regions from stellar debris that forms an accretion disk around the black hole. The aftermath of this process may have been seen several times over the past two decades in the form of sparsely sampled, slowly fading emission from distant galaxies, but the onset of the stellar disruption event has not hitherto been observed. Here we report observations of a bright X-ray flare from the extragalactic transient Swift J164449.3+573451. This source increased in brightness in the X-ray band by a factor of at least 10,000 since 1990 and by a factor of at least 100 since early 2010. We conclude that we have captured the onset of relativistic jet activity from a supermassive black hole. A companion paper comes to similar conclusions on the basis of radio observations. This event is probably due to the tidal disruption of a star falling into a supermassive black hole, but the detailed behaviour differs from current theoretical models of such events. 相似文献
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Desnues C Rodriguez-Brito B Rayhawk S Kelley S Tran T Haynes M Liu H Furlan M Wegley L Chau B Ruan Y Hall D Angly FE Edwards RA Li L Thurber RV Reid RP Siefert J Souza V Valentine DL Swan BK Breitbart M Rohwer F 《Nature》2008,452(7185):340-343
Viruses, and more particularly phages (viruses that infect bacteria), represent one of the most abundant living entities in aquatic and terrestrial environments. The biogeography of phages has only recently been investigated and so far reveals a cosmopolitan distribution of phage genetic material (or genotypes). Here we address this cosmopolitan distribution through the analysis of phage communities in modern microbialites, the living representatives of one of the most ancient life forms on Earth. On the basis of a comparative metagenomic analysis of viral communities associated with marine (Highborne Cay, Bahamas) and freshwater (Pozas Azules II and Rio Mesquites, Mexico) microbialites, we show that some phage genotypes are geographically restricted. The high percentage of unknown sequences recovered from the three metagenomes (>97%), the low percentage similarities with sequences from other environmental viral (n = 42) and microbial (n = 36) metagenomes, and the absence of viral genotypes shared among microbialites indicate that viruses are genetically unique in these environments. Identifiable sequences in the Highborne Cay metagenome were dominated by single-stranded DNA microphages that were not detected in any other samples examined, including sea water, fresh water, sediment, terrestrial, extreme, metazoan-associated and marine microbial mats. Finally, a marine signature was present in the phage community of the Pozas Azules II microbialites, even though this environment has not been in contact with the ocean for tens of millions of years. Taken together, these results prove that viruses in modern microbialites display biogeographical variability and suggest that they may be derived from an ancient community. 相似文献
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Schweizer FE 《Nature》2007,450(7170):610