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181.
de Lonlay P Valnot I Barrientos A Gorbatyuk M Tzagoloff A Taanman JW Benayoun E Chrétien D Kadhom N Lombès A de Baulny HO Niaudet P Munnich A Rustin P Rötig A 《Nature genetics》2001,29(1):57-60
Complex III (CIII; ubiquinol cytochrome c reductase of the mitochondrial respiratory chain) catalyzes electron transfer from succinate and nicotinamide adenine dinucleotide-linked dehydrogenases to cytochrome c. CIII is made up of 11 subunits, of which all but one (cytochrome b) are encoded by nuclear DNA. CIII deficiencies are rare and manifest heterogeneous clinical presentations. Although pathogenic mutations in the gene encoding mitochondrial cytochrome b have been described, mutations in the nuclear-DNA-encoded subunits have not been reported. Involvement of various genes has been indicated in assembly of yeast CIII (refs. 8-11). So far only one such gene, BCS1L, has been identified in human. BCS1L represents, therefore, an obvious candidate gene in CIII deficiency. Here, we report BCS1L mutations in six patients, from four unrelated families and presenting neonatal proximal tubulopathy, hepatic involvement and encephalopathy. Complementation study in yeast confirmed the deleterious effect of these mutations. Mutation of BCS1L would seem to be a frequent cause of CIII deficiency, as one-third of our patients have BCS1L mutations. 相似文献
182.
An improved classification device for bankruptcy forecasting is proposed. The proposed approach relies on mainstream classifiers whose inputs are obtained from a so‐called multinorm analysis, instead of traditional indicators such as the ROA ratio and other accounting ratios. A battery of industry norms (computed by using nonparametric quantile regressions) is obtained, and the deviations of each firm from this multinorm system are used as inputs for the classifiers. The approach is applied to predict bankruptcy on a representative sample of Spanish manufacturing firms. Results indicate that our proposal may significantly enhance predictive accuracy, both in linear and nonlinear classifiers. Copyright © 2013 John Wiley & Sons, Ltd. 相似文献
183.
MENEZES Moises Lima de SOUZA Reinaldo Castro PESSANHA Jos Francisco Moreira 《系统科学与复杂性》2014,27(1):29-46
Singular spectrum analysis (SSA) is a technique that decomposes a time series into a set of components, such as, trend, harmonics, and residuals. Leaving out the residual components and adding up the others, the time series can be smoothed. This procedure has been used to model Brazilian electricity consumption and flow series. The PAR(p), periodic autoregressive models, has been broadly used in modelling energy series in Brazil. This paper presents an approach of this decomposition method, by fitting the PAR(p), considering its multivariate version known as multivariate SSA (MSSA). The method was applied to a vector of two wind speed series recorded at two locations in the Brazilian Northeast region. The obtained results, when compared to the univariate decomposition of each series, were far superior, showing that the spatial correlation between the two series were considered by MSSA decomposition stage. 相似文献
184.
Tomás M. Rodríguez-Cabrera L. Yusnaviel García-Padrón Andrés R. Acosta Galvis Rafael O. de Sá 《Journal of Natural History》2018,52(29-30):1883-1892
The Neotropical genus Leptodactylus is currently represented by three species in the West Indies (Leptodactylus albilabris, Leptodactylus fallax and Leptodactylus validus). Based on morphological, acoustic and molecular evidence, we document the presence of a fourth species in the Caribbean region, Leptodactylus fragilis (Brocchi, 1877). The species was found at two localities in western Cuba, and molecular data suggest a northern South American origin, possibly Venezuela, for these populations. We discuss the potential invasive status of L. fragilis, based on its known distribution, relative abundance, behaviour and possible impacts on native species of Cuban amphibians. 相似文献
185.
Nanometre-scale electronics with III-V compound semiconductors 总被引:1,自引:0,他引:1
del Alamo JA 《Nature》2011,479(7373):317-323
For 50 years the exponential rise in the power of electronics has been fuelled by an increase in the density of silicon complementary metal-oxide-semiconductor (CMOS) transistors and improvements to their logic performance. But silicon transistor scaling is now reaching its limits, threatening to end the microelectronics revolution. Attention is turning to a family of materials that is well placed to address this problem: group III-V compound semiconductors. The outstanding electron transport properties of these materials might be central to the development of the first nanometre-scale logic transistors. 相似文献
186.
Santander-Syro AF Copie O Kondo T Fortuna F Pailhès S Weht R Qiu XG Bertran F Nicolaou A Taleb-Ibrahimi A Le Fèvre P Herranz G Bibes M Reyren N Apertet Y Lecoeur P Barthélémy A Rozenberg MJ 《Nature》2011,469(7329):189-193
As silicon is the basis of conventional electronics, so strontium titanate (SrTiO(3)) is the foundation of the emerging field of oxide electronics. SrTiO(3) is the preferred template for the creation of exotic, two-dimensional (2D) phases of electron matter at oxide interfaces that have metal-insulator transitions, superconductivity or large negative magnetoresistance. However, the physical nature of the electronic structure underlying these 2D electron gases (2DEGs), which is crucial to understanding their remarkable properties, remains elusive. Here we show, using angle-resolved photoemission spectroscopy, that there is a highly metallic universal 2DEG at the vacuum-cleaved surface of SrTiO(3) (including the non-doped insulating material) independently of bulk carrier densities over more than seven decades. This 2DEG is confined within a region of about five unit cells and has a sheet carrier density of ~0.33 electrons per square lattice parameter. The electronic structure consists of multiple subbands of heavy and light electrons. The similarity of this 2DEG to those reported in SrTiO(3)-based heterostructures and field-effect transistors suggests that different forms of electron confinement at the surface of SrTiO(3) lead to essentially the same 2DEG. Our discovery provides a model system for the study of the electronic structure of 2DEGs in SrTiO(3)-based devices and a novel means of generating 2DEGs at the surfaces of transition-metal oxides. 相似文献
187.
188.
Genetics and pathogenesis of inflammatory bowel disease 总被引:1,自引:0,他引:1
Recent advances have provided substantial insight into the maintenance of mucosal immunity and the pathogenesis of inflammatory bowel disease. Cellular programs responsible for intestinal homeostasis use diverse intracellular and intercellular networks to promote immune tolerance, inflammation or epithelial restitution. Complex interfaces integrate local host and microbial signals to activate appropriate effector programs selectively and even drive plasticity between these programs. In addition, genetic studies and mouse models have emphasized the role of genetic predispositions and how they affect interactions with microbial and environmental factors, leading to pro-colitogenic perturbations of the host-commensal relationship. 相似文献
189.
Jacquemont S Reymond A Zufferey F Harewood L Walters RG Kutalik Z Martinet D Shen Y Valsesia A Beckmann ND Thorleifsson G Belfiore M Bouquillon S Campion D de Leeuw N de Vries BB Esko T Fernandez BA Fernández-Aranda F Fernández-Real JM Gratacòs M Guilmatre A Hoyer J Jarvelin MR Kooy RF Kurg A Le Caignec C Männik K Platt OS Sanlaville D Van Haelst MM Villatoro Gomez S Walha F Wu BL Yu Y Aboura A Addor MC Alembik Y Antonarakis SE Arveiler B Barth M Bednarek N Béna F Bergmann S Beri M Bernardini L 《Nature》2011,478(7367):97-102
190.