bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dissecting immunity by germline mutagenesis
Authors: Choi Onjee , Rutschmann Sophie 
Published: June 2012

SummaryThe last decades have seen numerous approaches being used to decipher biological phenomena, notably the strategies we employ to defend ourselves against pathogenic attacks. From microarrays to genetics to computing technologies, all have supported a better but not yet comprehensive understanding of the pathways regulating our immune system. Limitations are notably exemplified by cases of immune deficiencies in humans that often result in high susceptibility to infections or even death, without the genetic cause being evident. To provide further insight into the mechanisms by which pathogen detection and eradication occur, several in vivo strategies can be used. The current review focuses on one of them, namely germline mutagenesis in the mouse. After describing the main technical aspects of this forward genetic approach, we will discuss particular germline mutants that have all been instrumental in deciphering innate or adaptive immune responses. Mutations in previously uncharacterized genes in the mouse, like Unc93B or Themis, have demonstrated the impartiality of forward genetics and led to the identification of new crucial immunity actors. Some mutants, like PanR1, have informed us on particular protein domains and their specific functions. Finally, certain mutations identified by this non‐hypothesis‐driven method have revealed previously unknown gene functions, as recently illustrated by memi, which links a particular nucleoside salvage enzyme to cell proliferation and apoptosis.
Transcriptome analysis of the citrus red mite, Panonychus citri, and its gene expression by exposure to insecticide/acaricide
Authors: Niu J‐Z. , Dou W. , Ding T‐B. , Shen G‐M. , Zhang K. , Smagghe G. , Wang J‐J. 
Published: June 2012

AbstractThe citrus red mite, Panonychus citri, is known for its ability rapidly to evolve resistance to insecticides/acaricides and to adapt to hosts that produce toxins. In this study, we constructed an unprecedented four gigabase pair transcriptome of P. citri, which was assembled into 64 149 unique transcripts, the functions of which were annotated by five public databases. A total of 116 unique transcripts were identified as representatives of potential involvement in the detoxification of xenobiotics. Genes recorded to encoding insecticide/acaricide target proteins were also obtained from the P. citri transcriptome. In order to explore novel candidate genes potentially involved in the pesticide detoxification of P. citri, we also constructed digital gene expression libraries of short‐term transcriptome responses of P. citri to pesticides, which resulted in the identification of 120 unique transcripts potentially associated with insecticide/acaricide detoxification. Our study will facilitate molecular research on pesticide resistance in citrus red mites, as well as in other phytophagous mites.
Mentawai’s endemic, relictual fauna: is it evidence for Pleistocene extinctions on Sumatra?
Authors: Wilting Andreas , Sollmann Rahel , Meijaard Erik , Helgen Kristofer M. , Fickel Jörns 
Published: June 2012

AbstractAim  The four Mentawai islands, south‐west of Sumatra, have long been isolated from the remainder of Sundaland, resulting in a high level of endemism. We examined the distribution of 151 species of the Mentawai Islands in Sundaland and assessed various processes that may have resulted in the various biogeographical patterns.Location  Southeast Asia, particularly the Mentawai Islands and nearby large landmasses (Sumatra, Java, Borneo and Peninsular Malaysia).Methods  We compared the faunal composition of the Mentawai Islands for selected taxa (43 mammals, 92 reptiles and 16 amphibians) with that of the four nearby large landmasses of Sundaland using morphological comparisons and the most recent molecular phylogenetic analyses available in the literature. These comparisons yielded sister taxa, which were used to simulate species absence data for the four Sundaland landmasses under several scenarios to investigate how patterns of species absence could have arisen.Results  In contrast to our expectations, several Mentawai species did not have their closest relatives on neighbouring Sumatra, but rather on the more distant Borneo, Java or Peninsular Malaysia. For mammals, the similarity between species from Mentawai and Borneo was greater than that observed between species from Mentawai and Sumatra. We conclude that the relationships represent traces of species historically distributed throughout Sundaland that became extinct in Sumatra during the Pleistocene. For reptiles and amphibians the observed pattern of species absences generally resembled the simulated pattern expected under the scenario of absence rates increasing with landmass isolation, whereas for mammals we observed more species than expected missing from Java and Sumatra, and fewer than expected from Borneo.Main conclusions  The potential extinctions on Sumatra probably had two causes: changes of climate and vegetation during the Pleistocene and environmental impacts from the Toba supervolcanic eruption.
Patterns of population differentiation in annual killifishes from the Paraná–Uruguay–La Plata Basin: the role of vicariance and dispersal
Authors: García Graciela , Gutiérrez Verónica , Vergara Julia , Calviño Pablo , Duarte Alejandro , Loureiro Marcelo 
Published: June 2012

AbstractAim  To elucidate the role of vicariance versus dispersal at the microevolutionary scale in annual killifish populations belonging to the Austrolebias bellottii species complex (Rivulidae). Within this complex, A. bellottii and A. apaii have low vagility and occur widely within the study area, making them excellent models for testing biogeographic hypotheses of differentiation.Location  South America, in the Paraná–Uruguay–La Plata river basin.Methods  Molecular data and morphometric analyses were used to reconstruct the phylogeographic history and morphological variation of 24 populations of two taxa of the A. bellottii species complex. Phylogenetic analyses using maximum likelihood (ML) and Bayesian inference (BI) model‐based methods, estimates of clade divergence times implemented in beast, non‐metric multidimensional scaling, analysis of molecular variance results, and morphological analyses elucidated the role of vicariance versus dispersal hypotheses in population differentiation in the aforementioned river basin.Results  In the A. bellottii species complex from the Paraná–Uruguay–La Plata river basin, past allopatric fragmentation from vicariance events seems to be the most plausible scenario for diversification since the Late Miocene and more recently since the Plio‐Pleistocene. The Plio‐Pleistocene vicariance produced the differentiation of three major clades in A. bellottii populations. One clade from the eastern Uruguay River drainage was separated from another in western Uruguay and the Paraná–La Plata River drainages. A later vicariance event split populations to the south (lower Paraná–La Plata Basin) and north (middle Paraná) of the western Paraná River drainage. However, our results do not exclude the possibility of dispersal events among A. bellottii populations from both the Uruguay and Paraná river drainages, which could occur in these river basins during hypothesized connectivity cycles of the Late Pliocene and Pleistocene.Main conclusions  Past allopatric fragmentation caused by different vicariance events seems to be the main driver of diversification in the A. bellottii species complex since the Plio‐Pleistocene. However, the current molecular data suggest that populations from both drainages of the Paraná–Uruguay rivers may have experienced cycles of connectivity during the Pleistocene, perhaps including multiple vicariance or dispersal events from populations located in the western lower Uruguay River drainage, which encompassed climatic and geological changes in the Paraná–Uruguay–La Plata Basin.
Phylogenetic and ecological structure of Mediterranean caddisfly communities at various spatio‐temporal scales
Authors: Múrria Cesc , Bonada Núria , Arnedo Miquel A. , Zamora‐Muñoz Carmen , Prat Narcís , Vogler Alfried P. 
Published: June 2012

AbstractAim The evolutionary processes structuring the composition of communities remain unclear due to the complexity of factors active at various spatial and temporal scales. Here, we conducted ecological and evolutionary analyses of communities of caddisflies in the genusHydropsyche(Insecta: Trichoptera) composed of ecomorphologically differentiated species.Location River ecosystems in the Iberian Peninsula and northern Morocco.Methods Nineteen environmental variables were assessed at 180 local study sites and species presence/absence at these sites was used to determine their ecological niche. The evolutionary framework for all 19 species ofHydropsycheencountered was generated by phylogenetic analysis of the mitochondrial cytochromecoxidase subunit I gene and three nuclear genes: wingless, elongation factor 1‐alpha and 28S RNA. The phylogenetic tree was used: (1) to assess evolutionary niche conservatism by ecological trait correlation with the tree; and (2) to analyse the phylogenetic relatedness of community member species, at three spatial scales (local stream reaches, drainage basins, biogeographical regions).Results Ecological measurements grouped most species into either headwater, mid‐stream or lowland specialists, and traits presumably relevant to river zonation were found to be phylogenetically conservative. Species assemblages at local stream reaches were mostly mono‐ or dispecific. Species diversity increased at larger spatial scales, by adding species with non‐overlapping ecological niches at the level of river basins and by turnover of anciently differentiated lineages at the level of biogeographical regions. This indicates the effects of competition and niche filtering on community structure locally, and ancient ecological diversification and allopatric speciation, respectively, in building up the species pool at basin and biogeographical scales.Main conclusions The study demonstrates the importance of scale (grain size) in studying what determines community composition. Current ecological factors (i.e. competitive exclusion) inHydropsychewere evident only when studying narrow local sites, while studies of assemblages at larger spatial scales instead demonstrated the roles of ecological niche differentiation, phylogenetic history of trait diversification and allopatric speciation. Increasing the grain size of investigation reveals different portions of correlated spatial and evolutionary processes.
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?
Authors: Glicksman S. , Borgen C. , Blackstein M. , Gordon A. , Hanon I. , Kusin D. , Leibowitz B. , Halle J. 
Published: June 2012

AbstractBackground  Canavan Disease is a degenerative neurological condition resulting in a spongy deterioration of the brain. Much research has been conducted by the medical community regarding this condition, but little research can be found in the psychological literature.Method  A review of the scientific literature related to Canavan Disease using the Psychinfo and PubMed databases was conducted covering a 5‐year span from 2006 through 2011. Concurrently, a review of parent initiated topics found on the most popular Canavan Disease Internet discussion board was conducted for comparison purposes.Results  When comparing the topics discussed and information sought among parents with the themes noted in the extant scientific literature, researchers found an exceedingly small overlap between the two communities of interest. In the scientific literature, published research on Canavan Disease focused on three areas: the biochemistry of Canavan Disease, diagnosis and genetic counselling, and clinical therapeutic approaches in Canavan Disease. Of the 42 unique topics raised on a popular Internet discussion board, however, only three (7%) fell into the category of diagnosis and genetic counselling, none (0%) fell into the category of the biochemistry of Canavan Disease, and four fell into the category of clinical therapeutic approaches in Canavan Disease (10%). Of the four posts addressing clinical therapeutic approaches to Canavan Disease, only one post truly overlapped with the topics addressed by the scientific community. Worded differently, while these three categories comprise 100% of the extant scientific literature regarding Canavan Disease, they comprise only 17% of the parent‐raised topics. The remaining 83% of parent‐raised topics addressed concerns not currently being focusing upon by the scientific community, namely, non‐medical practical issues, information regarding specific characteristics of Canavan Disease, non‐medical developmental and quality of life issues, and day‐to‐day developmental and medical concerns.Conclusion  By comparing the extant literature on Canavan Disease with the topics of interest raised by parents and caregivers, it seems clear that there is a significant ‘underlap’ of topics raised by these two communities of interest, one that may reflect a lack of sensitivity on the part of the scientific community to meet the needs of this population of knowledge seekers. It is the suggestion of these authors that developmental psychology may be the appropriate scientific field within which to address this need and fill this gap in the current literature.
Commentary: childhood exposure to environmental adversity and the well‐being of people with intellectual disabilities
Authors: Emerson E. 
Published: June 2012

AbstractPeople with intellectual disabilities have poorer health than their non‐disabled peers. They are also more likely to be exposed to a wide range of environmental adversities in childhood. Research undertaken in the general population has demonstrated that exposure to environmental adversity in childhood can have an adverse impact on health and well‐being across the life course. Recently, research in this area has added new breadth and depth to our understanding of: (1) the extent to which cumulative exposure to environmental adversities across the life course, but especially in early childhood, can reduce health and well‐being; (2) the social, psychological and biological mediating pathways through which environmental adversities may impair health; (3) the processes associated with resilience and vulnerability in the face of exposure to adversity; and (4) the social significance of these effects in accounting for the magnitude of the inequalities in health that are apparent both between and within populations. This new knowledge is making a significant contribution to the development of social policies that seek to combine health gain with the reduction in health inequalities. This paper attempts to apply this knowledge to research aimed at understanding and improving the health and well‐being of people with intellectual disabilities.
On the differential nature of induced and incidental echolalia in autism
Authors: Grossi D. , Marcone R. , Cinquegrana T. , Gallucci M. 
Published: June 2012

AbstractBackground  Echolalia is a verbal disorder, defined as ‘a meaningless repetition of the words of others’. It is pathological, automatic and non‐intentional behaviour, often observed in a variety of neurological and psychiatric disorders and above all in autism. We assume that echolalia is an imitative behaviour that is due to difficulties in inhibiting automatic repetition as seen in patients with frontal lobe damage. Our aim is to study the occurrence of echolalia under experimental conditions to investigate the nature of the phenomenon and its relationship with the severity of autism.Methods  Eighteen participants with autism from 17 to 36 years old were recruited; they were administrated the Vineland scale, the Observational Rating Scale of Basic Functions and the Echolalia Questionnaire. In the Echolalia Questionnaire, questions were directly addressed to the autistic subject (induced procedure) or to the subject's caregiver while the subject was free to do what he wanted (incidental procedure). The data were analysed by multivariate regressions and Pearson's correlations.Results  The results showed that echolalia occurred in both experimental situations; the mean value was significantly higher in the induced procedure, but results did not support the correlation with Vineland's score in the incidental procedure. It is likely that the two situations activated different processes. In particular, echolalia was statistically higher in the induced procedure as compared with the incidental one only for subjects with low score on Vineland, but in the incidental procedure, the presence of echolalia appeared to be uninfluenced by the functional capacity of subjects.Conclusions  The two experimental conditions require different monitoring systems to control this verbal behaviour. The echolalic phenomenon is an expression of dependence on the environment and may occur in a situation in which the autistic person is participating in a communicative act and, lacking inhibitory control, repeats the other's communication rather than selecting an answer. The deficit in inhibitory control in this situation does not seem to be present in subjects with higher efficiency. Incidental echolalia reflects the inability of the subject to filter out background environmental noise, which occasionally results in environmental dependency.
Behaviour problems, maternal internalising symptoms and family relations in families of adolescents and adults with fragile X syndrome
Authors: Baker J. K. , Seltzer M. M. , Greenberg J. S. 
Published: June 2012

AbstractBackground  Studies have linked the behaviour problems of children with fragile X syndrome (FXS) to maternal well‐being, but less is known about how behaviour problems relate to important family factors such as marital satisfaction and family cohesion.Methods  Married mothers of 115 adolescents and adults with FXS completed questionnaires and interviews, and maternal CGG repeat length was obtained by medical/laboratory records or by blood analysis.Results  Indirect effects were present between behaviour problems and family variables in that behaviour problems were positively related to maternal internalising symptoms which were, in turn, negatively associated with both family cohesion and marital satisfaction. Direct associations between behaviour problems and family relationship variables were not significant.Conclusions  Findings suggest the importance of intervening with behaviour problems in individuals with FXS and identify maternal mental health as a potentially powerful conduit for the effects of child behaviour on relationships within these families. Implications for targeted interventions are discussed.
Influence of colour on acquisition and generalisation of graphic symbols
Authors: Hetzroni O. E. , Ne'eman A. 
Published: June 2012

AbstractBackground  Children with autism may benefit from using graphic symbols for their communication, language and literacy development. The purpose of this study was to investigate the influence of colour versus grey‐scale displays on the identification of graphic symbols using a computer‐based intervention.Method  An alternating treatment design was employed to examine the learning and generalisation of 58 colour and grey‐scale symbols by four preschool children with autism. The graphic symbols were taught via a meaning‐based intervention using stories and educational games.Results and conclusions  Results demonstrate that all of the children were able to learn and maintain symbol identification over time for both symbol displays with no apparent differences. Differences were apparent for two of the children who exhibited better generalisation when learning grey‐scale symbols first. The other two showed no noticeable difference, between displays when generalising from one display to the other. Implications and further research are discussed.
Skilled interaction among professional carers in special accommodations for adult people with learning disabilities
Authors: ANTONSSON H. , ÅSTRÖM S. , LUNDSTRÖM M. , GRANEHEIM U. H. 
Published: June 2012

Accessible summary

Communicative difficulties affect interactions between people with learning disabilities and their carers.

Interactions between carers and residents in special accommodations for people with learning disabilities were recorded on video and skilled interactions were illuminated.

Results of the study show that skilled interaction between the carers and the people with learning disabilities is based upon being confirming, sharing daily life experience, giving time and space, and using congruent and distinct language.

AbstractCommunicative difficulties affect interactions between people with learning disabilities and their carers. Despite such difficulties, however, some carers seem to interact successfully with people who have limited ability to communicate verbally and exhibit challenging behaviour. This study aims to illuminate skilled interaction among carers working in special accommodations for people with learning disabilities. Interactions between 16 caregivers and 11 residents with learning disabilities were recorded on video. Verbal and non‐verbal interaction skills among the carers were identified. Four caring situations with people with learning disabilities were chosen to illuminate skilled interaction. The transcribed text was subjected to qualitative content analysis and core stories were created. The results show that skilled interaction between the carers and the people with learning disabilities is based upon being confirming, sharing daily life experience, giving time and space, and using congruent and distinct language. In this paper we present examples that offer concrete suggestions of how to promote successful interaction and create meaning in the shared day‐to‐day life in special accommodations for people with learning disabilities.
Physiological significance of the plant circadian clock in natural field conditions
Authors: IZAWA TAKESHI 
Published: June 2012

ABSTRACTFor many decades, researchers have focused on the self‐sustainable oscillations of plant circadian clocks, which can only be observed under artificial constant environmental conditions. However, plants have evolved under natural diurnal conditions where several major environmental cues such as light, temperature and humidity are dramatically changing and interacting with each other. Therefore, little is known about the roles of the plant circadian clock in natural field conditions. Molecular genetic analyses in Arabidopsis thaliana have revealed that some core circadian clock genes are required for the establishment of robust circadian rhythms under artificial diurnal conditions, and that others function only as self‐oscillators. However, it is largely unknown yet how those robust rhythms can be obtained under natural diurnal conditions. Recently, an extensive time‐course transcriptome analysis of rice (Oryza sativa) leaves in natural field conditions revealed that OsGIGANTEA, the sole rice ortholog of the Arabidopsis GIGANTEA gene, governs the robust diurnal rhythm of rice leaf transcriptomes even under natural diurnal conditions; rice Osgi mutants exhibited severely defective transcriptome rhythms under strong diurnal changes in environmental cues. This review focuses on the physiological significance of the plant circadian clock in natural field conditions.