bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array‐comparative genomic hybridization
Authors: Guo Q. S. , Qin S. Y. , Zhou S. F. , He L. , Ma D. , Zhang Y. P. , Xiong Y. , Peng T. , Cheng Y. , Li X. T. 
Published: June 2009

AbstractBackground  There are only three cases of unbalanced translocation (X;1) reported in childhood in the literature, while no such phenotypic information is available in adults.Materials and methods  To delineate the phenotype–genotype relationship of unbalanced translocation (X;1) in adulthood, we reported here a 20‐year‐old female with an unbalanced translocation (X;1) which was determined by spectral karyotyping, array‐comparative genomic hybridization and subtelomeric fluorescence in situ hybridization (FISH).Results  The phenotype of partial trisomy 1 and partial monosomy X of the present case was much attenuated, including premature ovarian failure, mental retardation, class I obesity, mild dysmorphism and delayed secondary sexual characteristics. The breakpoints of the unbalanced translocation were accurately located at Xq28 and 1q32·1. The large amplification on Chromosome 1 q arm was found to involve 312 genes and the deletion on Chromosome X q arm also involved 141 genes. Overall, genes associated with physiological process (47 genes), cellular process (33), development (23), response to stimulus (1) and reproduction (1) were observed in the amplification on Chromosome 1 q arm. In addition, genes related to physiological process (23 genes), cellular process (13), development (6) and response to stimulus (2) were observed in the large deletion on chromosome X q arm. Late‐replication studies revealed the existence of skewed X inactivation in the derivative X chromosome.Conclusions  The phenotype of partial monosomy X and partial trisomy 1q is much attenuated in case of unbalanced translocation (X;1) in adulthood probably owing to skewed X inactivation in derivative X chromosome.
Quercetin inhibits fatty acid and triacylglycerol synthesis in rat‐liver cells
Authors: Gnoni G. V. , Paglialonga G. , Siculella L. 
Published: June 2009

AbstractBackground  Quercetin plays a cardiovascular protective role because of its antioxidant capacity and ability to modulate dyslipidemia. As alterations in hepatic lipid synthesis are crucial to the regulation of serum lipid levels, we investigated the quercetin effect on lipogenesis in rat liver cells.Materials and methods  The effect of quercetin on the rate of synthesis of fatty acids, cholesterol, neutral lipids, phospholipids and very‐low‐density lipoproteins (VLDL) was investigated in rat hepatocyte suspensions following [1‐14C]acetate incorporation into these lipid fractions. Enzyme activities of acetyl‐CoA carboxylase (ACC) and fatty acid synthase (FAS) as well as diacylglycerol acyltransferase (DGAT) and 3‐hydroxy‐3‐methyl‐glutaryl‐CoA reductase (HMG‐CoA‐R), pace‐setting steps of de novo fatty acid, triacylglycerol (TAG) and cholesterol synthesis respectively were assayed in digitonin‐permeabilized hepatocytes.Results  Within 30 min of quercetin addition to the hepatocytes, inhibition (IC50 ∼25 μM) of fatty acid synthesis occurred. A reduction in label incorporation mainly into TAG was observed. Among neosynthesized fatty acids, palmitic acid formation was greatly reduced, suggesting that enzymatic step(s) of de novo fatty synthesis was affected. Only ACC activity was noticeably reduced, but no change in FAS activity was observed. DGAT activity was also inhibited. The decreased intracellular TAG content was paralleled by a reduction in acetate incorporation into VLDL‐TAG. Conversely, cholesterol synthesis and HMG‐CoA‐R were not significantly affected by quercetin.Conclusions  In hepatocytes from normal rats, the quercetin‐induced decrease in both de novo fatty acid and TAG synthesis, with a consequent reduction in VLDL‐TAG formation, may represent a potential mechanism contributing to the reported hypotriacylglycerolemic effect of quercetin.
Phosphorus economics of tropical rainforest species and stands across soil contrasts in Queensland, Australia: understanding the effects of soil specialization and trait plasticity
Authors: Gleason Sean M. , Read Jenny , Ares Adrian , Metcalfe Dan J. 
Published: June 2009

Summary 1. Edaphic specialization among species may lead to greater productivity and resource use efficiency across heterogenous landscapes than could be achieved in the absence of specialization. Although this idea has been tested conceptually and in garden experiments, it has rarely been examined in undisturbed forests. 2. To address this gap in our knowledge, we measured aboveground net primary productivity (aboveground biomass increment plus litterfall; ANPP) and phosphorus use efficiency (ANPP/P uptake) for stands on infertile schist soil and fertile basalt soil on the Atherton Tablelands, Australia. We also measured aboveground biomass production and estimated P use efficiency (PUE) for 52 tree species within these stands. Soil P fractions and radiation use efficiency (ANPP/percent intercepted radiation) were also measured. 3. Phosphorus use efficiency was markedly variable (CV = 44%) among species across soil types. Phosphorus use efficiency of obligate specialists on infertile soil was twice as high as species common on both soil types. Plastic responses within species were also significant, with trees on infertile soil having 45% greater PUE than trees on fertile soil. At the ecosystem level, genotypic and phenotypic traits accounted for 49% and 29% of the total PUE variance. Phosphorus‐efficient trees (PUE >8 kg biomass g−1 P uptake) on schist soils contributed more to stand‐level species richness (schist = 73%, basalt = 20%), basal area (schist = 86%, basalt = 18%) and production (schist = 82%, basalt = 10%) than did P‐efficient species on basalt soils. 4. Forest on schist soils achieved higher PUE than forest on basalt soils by partitioning more P to leaves rather than wood and by retaining P for longer periods of time before losing it via tissue senescence. These PUE traits enabled forest on schist to achieve similar ANPP and radiation use efficiency (i.e. PUE was not traded for radiation use efficiency). It is possible that opportunity costs of high PUE may exist among other life‐history traits. 5. These results suggest that plasticity in traits that confer P conservation is significant, but limited, and that maximum P conservation at the landscape level must be achieved via genetic differences between species. Although this highlights the importance of genetic conservation in forests, it also demonstrates that high P conservation is possible with relatively few, but markedly plastic species.
Survival trade‐offs associated with inducible defences in snails: the roles of multiple predators and developmental plasticity
Authors: Hoverman Jason T. , Relyea Rick A. 
Published: June 2009

Summary

For decades, organisms with inducible defences have been used extensively as model systems for addressing the ecology and evolution of phenotypic plasticity. However, our current understanding of inducible defences comes largely from studies that have examined the survival benefits of an inducible defence in a predator environment vs. the growth or reproductive costs in a no‐predator environment. Moreover, this work has focused on a single point in prey development. Unfortunately, this approach neglects the role that functionally different predator species (with divergent selection pressures) may play in maintaining inducible defences in prey populations and overlooks the dynamic nature of prey responses and prey vulnerability over development.
In this study, we used freshwater snails and a subset of their predators to address the survival costs and benefits of predator‐induced plasticity in response to functionally different predators at multiple points in development.
We found that snails altered unique suites of traits over development in response to three different caged predator environments. Moreover, short‐term predation trials demonstrated that the phenotype induced by one predator had higher survival with that predator than any alternative phenotype but lower survival with a different predator species (i.e. survival trade‐offs). However, the trade‐off was only strongly detected midway in development before a size refuge was attained from predation and after morphological defences had formed in the snails.
Our study suggests that functionally different predators favour inducible defences in freshwater snails, and that incorporating development into tests of the adaptive plasticity hypothesis can provide valuable information about the dynamics of trait induction and variation in fitness trade‐offs over time.
Fibroblast growth factor 9 stimulates steroidogenesis in postnatal Leydig cells
Authors: Lin Yung Ming , Tsai Chih Chien , Chung Chia Ling , Chen Pei Rong , Sunny Sun H. , Tsai Shaw Jenq , Huang Bu Miin 
Published: June 2009

SummaryFibroblast growth factor 9 (FGF9) is a potent mitogen and survival factor required for morphogenesis during embryonic development and numerous biological functions at adulthood. The reproductive phenotype of mice lacking Fgf9 gene exhibits male to female sexual reversal, suggesting a crucial role of Fgf9 in male sex determination. Our previous study showed that polymorphic microsatellite of FGF9 genes is associated with 46XY female with ambiguous genitalia, implying that the aberrant expression of FGF9 might affect androgen secretion. In this study, we aimed to investigate the effect of FGF9 on testosterone production in mouse Leydig cell and to study the signalling pathways by which FGF9 modulate steroidogenesis. Our results show that mRNAs of Fgf9 and Fgfr isoforms (Fgfr2IIIc, Fgfr3 and Fgfr4) were all expressed in mouse Leydig cells. FGF9 significantly stimulates mouse Leydig cell testosterone production in a dose‐ and time‐dependent manner. Ras‐MAPK, PI3K and PKA signalling pathways are involved in the FGF9‐induced steroidogenesis. These results provide supportive evidence linking the aberrant expression of FGF9 to human gonadal dysgenesis and suggest a role of FGF9 in postnatal testicular development.
Finasteride treatment alters MMP‐2 and ‐9 gene expression and activity in the rat ventral prostate
Authors: Delella Flávia K. , Justulin Jr Luis A. , Felisbino Sérgio L. 
Published: June 2009

SummaryThe safety of using finasteride as a prevention of prostate cancer is still under debate. In this study, we investigated the effects of finasteride on the location, gene expression and activities of matrix metalloproteinases ‐2 and ‐9, which are involved in the degradation of extracellular matrix components during tissue remodelling and prostate cancer progression, invasion and metastasis. Ventral prostates (VP) from Wistar rats treated with finasteride (25 mg/kg/day) for 7 and 30 days and age‐matched controls were evaluated using histology, immunohistochemistry, semi‐quantitative RT‐PCR and gelatin zymography. Finasteride treatment reduced the epithelial immunostaining of MMP‐2 but increased MMP‐9 immunostaining in the epithelial cells and in the stroma. The mRNA expression of both MMP‐2 and MMP‐9 were significantly increased on day 7 of finasteride treatment, mainly for MMP‐9 and returned to the control levels by day 30. However, gelatin zymography showed that MMP‐9 activity was significantly increased on day 7 of finasteride treatment and remained elevated on day 30 (p < 0.05), while MMP‐2 activity was reduced after 30 days of treatment. Finasteride increases MMP‐9 and reduces MMP‐2 activities in the prostate, which may affect negatively and positively both normal and tumoural prostatic cell behaviour during the treatment. Studies on expression of MMPs in the prostate during different androgen manipulation or cancer chemoprevention strategies can contribute to understand the tissue’s overall response and clinical data.
Critical parameters for predicting population fluctuations of some British passerines
Authors: Sæther Bernt‐Erik , Grøtan Vidar , Engen Steinar , Noble David G. , Freckleton Robert P. 
Published: June 2009

Summary1. One of the greatest challenges in ecology is to develop tools that can give reliable projections of future population fluctuations as well as to quantity uncertainties. The population prediction interval (PPI), i.e. the stochastic interval that includes a given population size with a certain probability, is affected by changes in expected population size, e.g. due to density regulation, fluctuations in population size because of demographic and environmental stochasticity, uncertainties and biases in parameter estimates, and observation error in estimates of population size.2. The aim of this study was to examine how PPI can be used to obtain reliable projections of future population fluctuations. Our approach is to split long time series into two parts: the first part is used for parameter estimation and the second part is used for comparing population predictions with actual population sizes after a certain period of time.3. Here we use the Common Birds Census – data from the UK for several species of passerines. Unbiased predictions will give a uniform distribution of the recorded population sizes across the PPI when transformed to a scale defined by the quantiles of the PPI. However, deviations from a uniform distribution reveal biases in the predictions. For instance, if there is a predominance of recorded population sizes in the upper quantiles of the PPI, this shows that our predictions underestimate future population sizes.4. Unbiased predictions required models that included both partitioning of stochastic influences into demographic and environmental stochasticity as well as observation error.5. Precision in the population predictions was improved when including observation error as well as density dependence.6. We recommend that predictions of future fluctuations of small passerine populations are based on models that include density dependence as well as observation error and estimates of the demographic variance that is obtained from individual‐based demographic data or based on species‐specific life‐history characteristics.7. These results show that constructing PPI by stochastic simulations may be a useful tool for obtaining reliable population projections.
Community consequences of herbivore‐induced bottom–up trophic cascades: the importance of resource heterogeneity
Authors: Utsumi Shunsuke , Nakamura Masahiro , Ohgushi Takayuki 
Published: June 2009

Summary
1. Herbivory often changes resource quality for herbivorous insects through induced plant responses depending on the intensity of damage. We hypothesized that the willow’s response following herbivory affects the entire arthropod community structure on the tree due to changes in plant quality. To examine this hypothesis, we investigated arthropod communities on three willow species, Salix gilgiana, Salix eriocarpa and Salix serissaefolia.
2.
In our common garden, cuttings were established in 2003 and experimental treatments were applied in 2005. Damage by a boring caterpillar of a swift moth (Endoclita excrescens) and artificial cutting of 25% stems were applied as partial herbivory within individual trees, and 100% cutting of stems was applied to represent severe herbivory to whole individual trees. These treatments stimulated lateral shoot production depending on damage intensity, resulting in full compensation for biomass loss.
3.
Positive relationships were detected between within‐tree variation in foliar nitrogen content and overall abundance/species richness of herbivores. Moth boring and 25% cutting increased herbivore abundance and species richness relative to controls. However, we found no significant differences in herbivore abundance and species richness between 100% cut and control trees. Community composition of herbivore species was significantly different between the following three groups: (i) bored and 25% cut; (ii) 100% cut; and (iii) control trees. Changes in community structure of herbivores were likely due to changes in plant quality depending on the intensity of damage.
4.
Although total predator abundance and species richness were not significantly different among treatments, community composition of predator species was significantly different among treatments.
5.
These results indicate that herbivore‐induced willow responses can largely determine the entire arthropod community structure of multitrophic levels due to changes in plant quality. We suggest that heterogeneous resource conditions induced by herbivory within and among plant individuals increase the species diversity of arthropods.
The leafing intensity premium hypothesis tested across clades, growth forms and altitudes
Authors: Milla Rubén 
Published: June 2009

Summary 1. Recent reports provide empirical evidence for a negative isometric scaling of (log)leaf number per unit shoot volume (i.e. leafing intensity) to (log)leaf size in woody plants. In this context, a theory of leaf size variation was anticipated, stating that natural selection should have favoured high leafing intensity, given that most tree and shrub species are small‐leaved. Leaf size is thus proposed to be a mere correlate of leafing intensity. This was coined the leafing intensity premium hypothesis. 2. I investigated the generality of the leaf size–number trade‐off by testing its extension to a set of 60 small‐stature species, growing along an altitude gradient. Also, I compiled data from 224 species and re‐analysed their leaf size and leafing intensity. Finally, I explored the validity of the leafing intensity premium hypothesis to account for the leaf size–number trade‐off, if the latter was sustained, and examined patterns of coordinated evolution of leaf size and leafing intensity across seed plant lineages. 3. Negative isometric scaling was supported in all analyses, except when evergreens were considered in isolation. Frequency distribution of both leaf size and leafing intensity was severely right‐skewed in the 224‐species data set, which provided no evidence in support of the view that natural selection favoured species with high leafing intensity. 4. Node divergences in the phylogenetic tree showed a tendency for inverse coordinated evolution of leafing intensity and leaf size. However, interactions between environments and divergence patterns, and also node‐wise peculiarities, were detected. 5.
Synthesis. The leaf size–number trade‐off is of general scope, although scaling exponents differ among evergreen and deciduous species. In addition, signals of coordinated evolution of both traits across the seed plant tree were detected. Still, the leafing intensity premium hypothesis cannot be supported, since leafing intensity of present‐day species is not particularly biased towards high scores.
Sleep in individuals with Cri du Chat syndrome: a comparative study
Authors: Maas A. P. H. M. , Didden R. , Korzilius H. , Braam W. , Smits M. G. , Curfs L. M. G. 
Published: June 2009

AbstractBackground Sleep problems are common in individuals with intellectual disability. Little is known about sleep in children and adults with Cri du Chat syndrome (CDC).Method Sleep was investigated in 30 individuals with CDC using a sleep questionnaire. Sleep problems and sleep behaviours in individuals with CDC were compared with individuals with non‐specific intellectual disabilities (NS) (n = 30) and Down's syndrome (DS) (n = 30).Results Nine individuals with CDC (i.e. 30%) had a sleep problem, compared with seven individuals with NS (i.e. 23%) and three individuals with DS (i.e. 10%). Though there were few differences between diagnostic groups, night waking problems were most common in CDC. Individuals with CDC frequently showed behaviours related to disordered breathing and poor‐quality sleep. Several behaviours related to sleep had a higher occurrence in CDC than in DS (P < 0.05) but not in NS.Conclusions It is concluded that individuals with CDC do not have an increased probability of sleep problems as compared with other individuals who share similar demographic characteristics. Hypotheses about causes of night waking problems in CDC are generated and suggestions for future research of sleep in individuals with CDC are given.
Bacterial type IV secretion systems in human disease
Authors: Llosa Matxalen , Roy Craig , Dehio Christoph 
Published: June 2009

SummaryType IV secretion (T4S) systems are versatile machines involved in many processes relevant to bacterial virulence, such as horizontal DNA transfer and effector translocation into human cells. A recent workshop organized by the International University of Andalousia in Baeza, Spain, covered most aspects of bacterial T4S relevant to human disease, ranging from the structural and mechanistic analysis of the T4S systems to the physiological roles of the translocated effector proteins in subverting cellular functions in infected humans. This review reports the highlights from this workshop, which include the first visualization of a T4S system core complex spanning both membranes of Gram‐negative bacteria, the identification of the first host receptors for T4S systems, the identification and characterization of novel T4S effector proteins, the analysis of the molecular function of effector proteins in subverting human cellular functions and an analysis of the role of T4S systems in the evolution of pathogenic bacteria. Our increasing knowledge of the biology of T4S systems improves our ability to exploit them as biotechnological tools or to use them as novel targets for a new generation of antimicrobials.
Hydrogen peroxide sensing in Bacillus subtilis: it is all about the (metallo)regulator
Authors: Giedroc David P. 
Published: June 2009

SummaryMicroorganisms have evolved an impressive array of mechanisms to adapt to stress induced by reactive oxygen species (ROS) of virtually any kind. One such regulator is Bacillus subtilis PerR, a member of the ubiquitous Fur (Ferric uptake regulator) family of metalloregulatory repressors, which senses hydrogen peroxide. In this issue of Molecular Microbiology, Duarte, Latour and colleagues report the structure of the Mn(II)‐bound form of PerR, a first for the Fe/Mn‐selective members of the Fur family. The structure reveals how a regulatory metal drives a quaternary structural switch that allosterically activates the PerR dimer to bind its DNA operator, while also providing detailed insight into the mechanism of metal‐catalysed ligand oxidation and transcriptional derepression that uniquely characterizes PerR.
Investigation of the self‐association and hetero‐association interactions of H‐NS and StpA from Enterobacteria
Authors: Leonard Paul G. , Ono Shusuke , Gor Jayesh , Perkins Stephen J. , Ladbury John E. 
Published: June 2009

SummaryThe nucleoid‐associated protein H‐NS and its paralogue StpA are global regulators of gene expression and form an integral part of the protein scaffold responsible for DNA condensation in Escherichia coli and Salmonella typhimurium. Although protein oligomerization is a requirement for this function, it is not entirely understood how this is accomplished. We address this by reporting on the self‐association of H‐NS and its hetero‐association with StpA. We identify residues 1–77 of H‐NS as being necessary and sufficient for high‐order association. A multi‐technique‐based approach was used to measure the effects of salt concentration on the size distribution of H‐NS and the thermal stability of H‐NS and StpA dimers. The thermal stability of the StpA homodimer is significantly greater than that of H‐NS1−74. Investigation of the hetero‐association of H‐NS and StpA proteins suggested that the association of H‐NS with StpA is more stable than the self‐association of either H‐NS or StpA with themselves. This provides a clear understanding of the method of oligomerization of these important proteins in effecting DNA condensation and reveals that the different associative properties of H‐NS and StpA allow them to perform distinct, yet complementary roles in the bacterial nucleoid.