共查询到8条相似文献,搜索用时 0 毫秒
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Michael Ludwig Bonnie Ching Heiko Reutter Simeon A. Boyadjiev 《Birth defects research. Part A, Clinical and molecular teratology》2009,85(6):509-522
The bladder exstrophy‐epispadias complex (BEEC) represents an anterior midline defect with variable expression comprising a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and occasionally the spine and anus. The vast majority of BEEC cases are classified as non‐syndromic and the etiology of this malformation is still unknown. This review presents the current state of knowledge on this multifactorial disorder, including historical retrospect, phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. These published lines of evidence argue strongly that BEEC occurs as a result of strong genetic predisposition that is yet to be deciphered. Birth Defects Research (Part A), 2009. © 2009 Wiley‐Liss, Inc. 相似文献
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Feitosa MF Borecki IB Rankinen T Rice T Després JP Chagnon YC Gagnon J Leon AS Skinner JS Bouchard C Province MA Rao DC 《Journal of lipid research》2005,46(2):281-286
Genome-wide multipoint linkage analyses were performed to identify chromosomal regions harboring genes influencing LDL-cholesterol, total apolipoprotein B (apoB), and LDL-apoB levels using 654 markers. They were assessed in a sedentary state (baseline) and after a 20 week endurance training program. Strong evidence for two quantitative trait loci (QTLs) for baseline levels was found. There is linkage evidence in black families on chromosomes 1q41-q44 [at marker D1S2860, 238 centimorgan (cM), with a maximum log of the odds (LOD) score of 3.7 for LDL-apoB] and in white families on chromosome 8q24 (at marker D8S1774, 142 cM, with LOD scores of 3.6, 3.3, and 2.5 for baseline LDL-cholesterol, LDL-apoB, and apoB, respectively). There were no strong signals for the lipoprotein training responses (as computed as the difference in posttraining minus baseline levels). In conclusion, QTLs for baseline apoB and LDL-cholesterol levels on chromosomes 1q41-q44 (in blacks) and 8q24 (in whites) were found. As there are no known strong candidate genes in these regions for lipids, follow-up studies to determine the source of those signals are needed. 相似文献
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Qiangmin Zhang Hao Peng Feng Gao Yiwei Liu Hao Cheng John Thompson George F. Gao 《Protein science : a publication of the Protein Society》2009,18(2):294-303
Gluconate 5‐dehydrogenase (Ga5DH) is an NADP(H)‐dependent enzyme that catalyzes a reversible oxidoreduction reaction between D ‐gluconate and 5‐keto‐D ‐gluconate, thereby regulating the flux of this important carbon and energy source in bacteria. Despite the considerable amount of physiological and biochemical knowledge of Ga5DH, there is little physical or structural information available for this enzyme. To this end, we herein report the crystal structures of Ga5DH from pathogenic Streptococcus suis serotype 2 in both substrate‐free and liganded (NADP+/D ‐gluconate/metal ion) quaternary complex forms at 2.0 Å resolution. Structural analysis reveals that Ga5DH adopts a protein fold similar to that found in members of the short chain dehydrogenase/reductase (SDR) family, while the enzyme itself represents a previously uncharacterized member of this family. In solution, Ga5DH exists as a tetramer that comprised four identical ~29 kDa subunits. The catalytic site of Ga5DH shows considerable architectural similarity to that found in other enzymes of the SDR family, but the S. suis protein contains an additional residue (Arg104) that plays an important role in the binding and orientation of substrate. The quaternary complex structure provides the first clear crystallographic evidence for the role of a catalytically important serine residue and also reveals an amino acid tetrad RSYK that differs from the SYK triad found in the majority of SDR enzymes. Detailed analysis of the crystal structures reveals important contributions of Ca2+ ions to active site formation and of specific residues at the C‐termini of subunits to tetramer assembly. Because Ga5DH is a potential target for therapy, our findings provide insight not only of catalytic mechanism, but also suggest a target of structure‐based drug design. 相似文献
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Binding Pockets and Pathways for Dioxygen through the KijD3 N‐Oxygenase in Complex with Flavin Mononucleotide Cofactor and a 3‐Aminoglucose Substrate: Predictions from Molecular Dynamics Simulations 下载免费PDF全文
Francesco Pietra 《化学与生物多样性》2014,11(8):1151-1162
In this work, two protein systems, Kij3D? FMN? AKM? O2 and Kij3D? FMN? O2, made of KijD3 N‐oxygenase, flavin mononucleotide (FMN) cofactor, dTDP‐3‐amino‐2,3,6‐trideoxy‐4‐keto‐3‐methyl‐D ‐glucose (AKM) substrate, and dioxygen (O2), have been assembled by adding a molecule of O2, and removing (or not) AKM, to crystal data for the Kij3D? FMN? AKM complex. Egress of AKM and O2 from these systems was then investigated by applying a tiny external random force, in turn, to their center of mass in the course of molecular dynamics in explicit H2O. It turned out that the wide AKM channel, even when emptied, does not constitute the main route for O2 egress. Other routes appear to be also viable, while various binding pockets (BPs) outside the active center are prone to trap O2. By reversing the reasoning, these can also be considered as routes for uptake of O2 by the protein, before or after AKM uptake, while BPs may serve as reservoirs of O2. This shows that the small molecule O2 is capable of permeating the protein by exploiting all nearby interstices that are created on thermal fluctuations of the protein, rather than having necessarily to look for farther, permanent channels. 相似文献
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Environmental Footprints and Scenario Analysis for Assessing the Impacts of the Agri‐Food Industry on a Regional Economy: A Case Study in Spain 下载免费PDF全文
Ignacio Cazcarro Rosa Duarte Julio Sánchez‐Chóliz Cristina Sarasa Ana Serrano 《Journal of Industrial Ecology》2015,19(4):618-627
The study of the environmental footprints of various sectors and industries is increasingly demanded by institutions and by society. In this context, the regional perspective is becoming particularly important, and even more so in countries such as Spain, where the autonomous communities have the primary responsibility for implementing measures to combat environmental degradation and promote sustainable development, in coordination with national strategies. Taking as a case study a Spanish region, Aragon, and significant economic sectors, including agriculture and the food industry, the aim of this work is twofold. First, we calculate the associated environmental footprints (of emissions and water) from the dual perspectives of production (local impacts) and consumption (final destination of the goods produced by the agri‐food industry). Second, through a scenarios analysis, based on a general equilibrium model designed and calibrated specifically for the region, we evaluate the environmental implications of changes in the agri‐food industry (changes in the export and import pattern, as well as in consumer behavior). This model provides a flexible approximation to the environmental impacts, controlling for a wider range of behavioral and economic interactions. Our results indicate that the agri‐food industry has a significant impact on the environment, especially on water resources, which must be responsibly managed in order to maintain the differential advantage that a regional economy can have, compared to other territories. 相似文献