bluuebunny/crossref_metadata_2025_split huggingface dataset:
Family studies of individuals with eyelid myoclonia with absences
Authors: Sadleir Lynette G. , Vears Danya , Regan Brigid , Redshaw Natalie , Bleasel Andrew , Scheffer Ingrid E. 
Published: December 2012

SummaryPurpose: Eyelid myoclonia with absences (EM) is an uncommon type of absence seizure associated with a variety of epilepsy syndromes. The syndrome of epilepsy with EM (EMA) has been proposed to denote the onset of frequent EM induced by eye closure and photic stimulation beginning in childhood. The clinical genetics of EMA has not been well characterized, although a family history of seizures is not infrequent.Methods: Individuals with EMA were ascertained by referral and through the investigators’ clinical practices. All available family members were assessed for seizures using a validated seizure questionnaire. Electroclinical data were obtained on each proband and all affected family members; pedigrees were constructed. Families were analyzed for phenotypic patterns.Key Findings: Eighteen individuals with EMA were recruited. A history of seizures was found in 34 relatives in 15 (83%) of 18 families. In terms of epilepsy syndromes, 9 relatives from 7 of 15 families had febrile seizures. Two relatives had EMA. Classical genetic generalized epilepsy (GGE) syndromes were seen in five relatives: two generalized tonic–clonic seizures alone, two childhood absence epilepsy (CAE), and one juvenile myoclonic epilepsy (JME). Genetic epilepsy with febrile seizures plus (GEFS+) phenotypes occurred in 16 relatives. On review of the epilepsy syndromes within each family, seven families had a pattern consistent with GEFS+, whereas three families had classical GGE.Significance: The clinical genetics of EMA is suggestive of complex inheritance with shared genetic determinants overlapping with both classical GGE and GEFS+. The epilepsy syndromes in relatives of probands with EMA differ from those found in families of probands with CAE, supporting the concept that patients with EMA have a syndrome that is distinct from CAE. This presumably reflects different genetic components contributing to their genetic architecture.
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?
Authors: Tassin Alexandra , Laoudj‐Chenivesse Dalila , Vanderplanck Céline , Barro Marietta , Charron Sébastien , Ansseau Eugénie , Chen Yi‐Wen , Mercier Jacques , Coppée Frédérique , Belayew Alexandra 
Published: December 2012

AbstractFacioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent hereditary muscle disorders. It is linked to contractions of the D4Z4 repeat array in 4q35. We have characterized the double homeobox 4 (DUX4) gene in D4Z4 and its mRNA transcribed from the distal D4Z4 unit to a polyadenylation signal in the flanking pLAM region. It encodes a transcription factor expressed in FSHD but not healthy muscle cells which initiates a gene deregulation cascade causing differentiation defects, muscle atrophy and oxidative stress. PITX1 was the first identified DUX4 target and encodes a transcription factor involved in muscle atrophy. DUX4 was found expressed in only 1/1000 FSHD myoblasts. We have now shown it was induced upon differentiation and detected in about 1/200 myotube nuclei. The DUX4 and PITX1 proteins presented staining gradients in consecutive myonuclei which suggested a diffusion as known for other muscle nuclear proteins. Both protein half‐lifes were regulated by the ubiquitin‐proteasome pathway. In addition, we could immunodetect the DUX4 protein in FSHD muscle extracts. As a model, we propose the DUX4 gene is stochastically activated in a small number of FSHD myonuclei. The resulting mRNAs are translated in the cytoplasm around an activated nucleus and the DUX4 proteins diffuse to adjacent nuclei where they activate target genes such as PITX1. The PITX1 protein can further diffuse to additional myonuclei and expand the transcriptional deregulation cascade initiated by DUX4. Together the diffusion and the deregulation cascade would explain how a rare protein could cause the muscle defects observed in FSHD.
Multifactorial Vascular Risk Factor Intervention to Prevent Cognitive Impairment after Stroke and TIA: A 12-month Randomized Controlled Trial
Authors: Ihle-Hansen Hege , Thommessen Bente , Fagerland Morten W. , Øksengård Anne R. , Wyller Torgeir B. , Engedal Knut , Fure Brynjar 
Published: December 2012

Objectives Vascular risk factor control may not only prevent stroke but also reduce the risk of dementia. We investigated whether a multifactorial intervention program reduces the incidence of cognitive symptoms one-year after stroke and transient ischemic attack in first ever stroke patients without cognitive decline prior to the stroke. Materials and methods Patients suffering their first ever stroke were included in this randomized, evaluator-blinded, controlled trial with two parallel groups. Baseline examination included extensive assessment of exposure to vascular risk factors and cognitive assessments regarding memory, attention, and executive function. After discharge, patients were allocated to either intensive vascular risk factor intervention or care as usual. The primary end points were changes in trail-making test A and 10-word test from baseline to 12 months follow-up. Results One hundred ninety-five patients were randomized. The difference between groups in trail-making test A, adjusted for baseline measurements, was 3·8 s (95% confidence interval: −4·2 to 11·9; P = 0·35) in favor of the intervention group. The difference between groups in the 10-word recall test was 1·1 words (95% confidence interval: −0·5 to 2·7; P = 0·17) in favor of the intervention group. We did not observe any differences in the secondary outcomes of incident dementia or mild cognitive impairment. Conclusions We could not demonstrate cognitive effects of an intensive risk factor intervention at one-year poststroke. Longer follow-up and a more heterogeneous study sample might have lead to larger effects. More effective methods for managing the risk of further cognitive decline after stroke are needed.
Oil price shocks and stock market in oil‐exporting countries: evidence from Iran stock market
Authors: Oskooe Seyyed Ali Paytakhti 
Published: December 2012

AbstractThis study adopts causality in mean and variance approach to investigate dynamic relationship between stock market in an oil‐exporting country (Iran) and the international oil market. The empirical results imply that in view of underlying data‐generating process of the series, the variance of oil price fluctuations does not cause the variance of Iran stock returns. This means that there is no volatility spillover effect between Iran stock market and international oil market.
A geochronological and petrological study of anatectic paragneiss and associated granite dykes from the Day Nui Con Voi metamorphic core complex, North Vietnam: constraints on the timing of metamorphism within the Red River shear zone
Authors: Palin R. M. , Searle M. P. , Waters D. J. , Parrish R. R. , Roberts N. M. W. , Horstwood M. S. A. , Yeh M.‐W. , Chung S.‐L. , Anh T. T. 
Published: December 2012

AbstractThe Red River shear zone (RRSZ) is a major left‐lateral strike‐slip shear zone, containing a ductilely deformed metamorphic core bounded by brittle strike‐slip and normal faults, which stretches for >1000 km from Tibet through Yunnan and North Vietnam to the South China Sea. The RRSZ exposes four high‐grade metamorphic core complexes along its length. Various lithologies from the southernmost core complex, the Day Nui Con Voi (DNCV), North Vietnam, provide new constraints on the tectonic and metamorphic evolution of this region prior to and following the initial India–Asia collision. Analysis of a weakly deformed anatectic paragneiss using P–T pseudosections constructed in the MnO–Na2O–CaO–K2O–FeO–MgO–Al2O3–SiO2–H2O–TiO2–O (MnNCKFMASHTO) system provides prograde, peak and retrograde metamorphic conditions, and in situ U–Th–Pb geochronology of metamorphic monazite yields texturally controlled age constraints. Tertiary metamorphism and deformation, overprinting earlier Triassic metamorphism associated with the Indosinian orogeny and possible Cretaceous metamorphism, are characterized by peak metamorphic conditions of ~805 °C and ~8.5 kbar between c. 38 and 34 Ma. Exhumation occurred along a steep retrograde P–T path with final melt crystallizing at the solidus at ≥~5.5 kbar at ~790 °C. Further exhumation at ~640–700 °C and ~4–5 kbar at c. 31 Ma occurred at subsolidus conditions. U–Pb geochronological analysis of monazite from a strongly deformed pre‐kinematic granite dyke from the flank of the DNCV provides further evidence for exhumation at this time. Magmatic grains suggest initial emplacement at 66.0 ± 1.0 Ma prior to the India–Asia collision, whereas grains with metamorphic characteristics indicate later growth at 30.6 ± 0.4 Ma. Monazite grains from a cross‐cutting post‐kinematic dyke within the core of the DNCV antiform provide a minimum age constraint of 25.2 ± 1.4 Ma for the termination of fabric development. A separate and significant episode of monazite growth at c. 83–69 Ma is suggested to be the result of fluid‐assisted recrystallization following the emplacement of magmatic units.
Differential hippocampal gene expression is associated with climate‐related natural variation in memory and the hippocampus in food‐caching chickadees
Authors: Pravosudov V. V. , Roth T. C. , Forister M. L. , LaDage L. D. , Kramer R. , Schilkey F. , van der Linden A. M. 
Published: December 2012

AbstractThere is significant and often heritable variation in cognition and its underlying neural mechanisms, yet specific genetic contributions to such variation are not well characterized. Black‐capped chickadees present a good model to investigate the genetic basis of cognition because they exhibit tremendous climate‐related variation in memory, hippocampal morphology and neurogenesis rates throughout the North American continent, and these cognitive traits appear to have a heritable basis. We examined the hippocampal transcriptome profiles of laboratory‐reared chickadees from the two most divergent populations to test whether differential gene expression in the hippocampus is associated with population differences in spatial memory, hippocampal morphology and adult hippocampal neurogenesis rates. Using high‐resolution mRNA sequencing coupled to a de novo transcriptome assembly, we generated 23 295 consensus sequences, which predicted 16 206 protein sequences with 13 982 showing high similarity to known protein sequences or conserved hypothetical proteins in other species. Of these, we identified differential expression in nearly 380 genes, with 47 genes specifically linked to neurogenesis, apoptosis, synaptic function, and learning and memory processes. Many of the other differentially expressed genes, however, may be associated with other functions. Our study presents the first avian hippocampal transcriptome, and it is the first study identifying differential gene expression associated with natural variation in cognition and the hippocampus. Our results provide additional support to the hypothesis that population differences in memory, hippocampal morphology and neurogenesis in chickadees have likely resulted from natural selection that appears to act on memory and its underlying neural mechanisms.
Similar traits, different genes? Examining convergent evolution in related weedy rice populations
Authors: Thurber Carrie S. , Jia Melissa H. , Jia Yulin , Caicedo Ana L. 
Published: December 2012

AbstractConvergent phenotypic evolution may or may not be associated with convergent genotypic evolution. Agricultural weeds have repeatedly been selected for weed‐adaptive traits such as rapid growth, increased seed dispersal and dormancy, thus providing an ideal system for the study of convergent evolution. Here, we identify QTL underlying weedy traits and compare their genetic architecture to assess the potential for convergent genetic evolution in two distinct populations of weedy rice. F2 offspring from crosses between an indica cultivar and two individuals from genetically differentiated U.S. weedy rice populations were used to map QTL for four quantitative (heading date, seed shattering, plant height and growth rate) and two qualitative traits. We identified QTL on nine of the twelve rice chromosomes, yet most QTL locations do not overlap between the two populations. Shared QTL among weed groups were only seen for heading date, a trait for which weedy groups have diverged from their cultivated ancestors and from each other. Sharing of some QTL with wild rice also suggests a possible role in weed evolution for genes under selection during domestication. The lack of overlapping QTL for the remaining traits suggests that, despite a close evolutionary relationship, weedy rice groups have adapted to the same agricultural environment through different genetic mechanisms.
The Brassica napus blackleg resistance gene LepR3 encodes a receptor‐like protein triggered by the Leptosphaeria maculans effector AVRLM1
Authors: Larkan N. J. , Lydiate D. J. , Parkin I. A. P. , Nelson M. N. , Epp D. J. , Cowling W. A. , Rimmer S. R. , Borhan M. H. 
Published: December 2012

Summary

LepR3, found in the Brassica napus cv ‘Surpass 400’, provides race‐specific resistance to the fungal pathogen Leptosphaeria maculans, which was overcome after great devastation in Australia in 2004. We investigated the LepR3 locus to identify the genetic basis of this resistance interaction.

We employed a map‐based cloning strategy, exploiting collinearity with the Arabidopsis thaliana and Brassica rapa genomes to enrich the map and locate a candidate gene. We also investigated the interaction of LepR3 with the L. maculans avirulence gene AvrLm1 using transgenics.

LepR3 was found to encode a receptor‐like protein (RLP). We also demonstrated that avirulence towards LepR3 is conferred by AvrLm1, which is responsible for both the Rlm1 and LepR3‐dependent resistance responses in B. napus.

LepR3 is the first functional B. napus disease resistance gene to be cloned. AvrLm1's interaction with two independent resistance loci, Rlm1 and LepR3, highlights the need to consider redundant phenotypes in ‘gene‐for‐gene’ interactions and offers an explanation as to why LepR3 was overcome so rapidly in parts of Australia.
Th17‐cells in atopic dermatitis stimulate orthodontic root resorption
Authors: Yamada K , Yamaguchi M , Asano M , Fujita S , Kobayashi R , Kasai K 
Published: December 2012

ObjectiveThe aim of this study was to investigate how atopic dermatitis (AD) contributes to root resorption during orthodontic tooth movement.Materials and MethodsAtopic dermatitis model mice and wild‐type mice were subjected to an excessive orthodontic force (OF) to induce movement of the upper first molars. The expression levels of the tartrate‐resistant acid phosphatase (TRAP), IL‐17, IL‐6, and RANKL proteins were determined in the periodontal ligament (PDL) by an immunohistochemical analysis. Furthermore, the effects of the compression force on co‐cultures of CD4+ cells from AD patients or healthy individuals and human PDL cells were investigated with regard to the levels of secretion and mRNA expression of IL‐17, IL‐6, RANKL, and osteoprotegerin.ResultsThe immunoreactivities for TRAP, IL‐17, IL‐6, and RANKL in the AD group were found to be significantly increased. The double immunofluorescence analysis for IL‐17/CD4 detected immunoreaction. The secretion of IL‐17, IL‐6, and RANKL, and the mRNA levels of IL‐6 and RANKL in the AD patients were increased compared with those in healthy individuals.ConclusionTh17 cells may therefore be associated with the deterioration of root resorption of AD mice, and may explain why AD patients are more susceptible to root resorption than healthy individuals when an excessive OF is applied.
Saponin polymorphism in the Korean wild soybean (Glycine soja Sieb. and Zucc.)
Authors: Panneerselvam K. , Tsukamoto Chigen , Honda Nozomi , Kikuchi Akio , Lee Jeong‐Dong , Yang Seung‐Hwan , Chung Gyuhwa 
Published: December 2012

AbstractSeed saponin composition of 3025 wild soybean (Glycine soja Sieb. and Zucc.) accessions collected from nine regions of Korea was analysed by thin‐layer chromatography to determine its polymorphic variation and geographical distribution and find mutants in saponin components. The saponin composition of seed hypocotyls was primarily divided into seven phenotypes, designated as Aa, Ab, AaBc, AbBc, Aa+α, AaBc+α and AbBc+α. The predominant phenotypes were AaBc (55%), Aa (33%), AaBc+α (7.5%) and Aa+α (3.3%). The frequencies of Ab, AbBc and AbBc+α were very low (0.3‐0.5%). Codominant alleles Sg‐1a and Sg‐1b and dominant allele Sg‐4 occupied 98.6, 1.1 and 63.3%, respectively. Alleles Sg‐3 and Sg‐5 were found to be dominant in all the analysed accessions except the mutants. Three accessions were discovered as mutants via LC‐PDA/MS/MS. The accession CWS0115 did not produce saponin Aa and Ax, CWS2133 did not produce saponin Aa and Ab and CWS5095 did not produce any group A saponins. These newly determined mutants might be utilized in producing a new soybean variety with good taste as well as in biosynthetic studies.
Depth distribution of humic substances in Andosols in relation to land management and soil erosion
Authors: Armas‐Herrera C. M. , Mora J. L. , Guerra J. A. , Arbelo C. D. , Rodríguez‐Rodríguez A. 
Published: December 2012

AbstractAlthough Andosols are relatively resistant to water erosion, they can be severely affected by changes in land use, resulting in accelerated erosion and loss of soil organic matter (SOM). We hypothesized that if the contents of specific components of SOM and organo–metallic complexes (humic acids –HAs–, fulvic acids –FAs–, sodium pyrophosphate extractable carbon –Cp–, aluminium –Alp–, and iron –Fep–) consistently tend towards certain ratios in A and B horizons, they could be used to identify soils denuded by erosion. To test this hypothesis, we investigated the vertical distribution of humus components and certain ratios, namely C‐HA/C‐FA, C‐FA/total organic C (TOC), Cp/TOC and (Fep + Alp)/C‐FA, in representative profiles of andic soils located in natural ecosystems with different degrees of human disturbance. Furthermore, we analysed these parameters in the topsoil of a natural protected area and in adjacent soils under different land use scenarios (natural reserve vs. traditional exploitation). We found that the ratios of C‐HA/C‐FA and, to a lesser extent, of C‐FA/TOC and Cp/TOC changed with depth in the selected soil profiles, but the values were characteristic of each type of soil horizon. The values of these ratios in the topsoils of the disturbed areas were closer to a B horizon than an A horizon. This pattern may be superimposed on pre‐existing gradients, such as those related to the type of natural vegetation. The use of these indices emerges as a possible land use and erosion indicator.
Systematic measurements of whole‐body dose distributions for various treatment machines and delivery techniques in radiation therapy
Authors: Hälg Roger A. , Besserer Jürgen , Schneider Uwe 
Published: December 2012

Purpose:Contemporary radiotherapy treatment techniques, such as intensity‐modulated radiation therapy and volumetric modulated arc therapy, could increase the radiation‐induced malignancies because of the increased beam‐on time, i.e., number of monitor units needed to deliver the same dose to the target and the larger volume irradiated with low doses. In this study, whole‐body dose distributions from typical radiotherapy patient plans using different treatment techniques and therapy machines were measured using the same measurement setup and irradiation intention.Methods:Individually calibrated thermoluminescent dosimeters were used to measure absorbed dose in an anthropomorphic phantom at 184 locations. The dose distributions from 6 MV beams were compared in terms of treatment technique (3D‐conformal, intensity‐modulated radiation therapy, volumetric modulated arc therapy, helical TomoTherapy, stereotactic radiotherapy, hard wedges, and flattening filter‐free radiotherapy) and therapy machine (Elekta, Siemens and Varian linear accelerators, Accuray CyberKnife and TomoTherapy).Results:Close to the target, the doses from intensity‐modulated treatments (including flattening filter‐free) were below the dose from a static treatment plan, whereas the CyberKnife showed a larger dose by a factor of two. Far away from the treatment field, the dose from intensity‐modulated treatments showed an increase in dose from stray radiation of about 50% compared to the 3D‐conformal treatment. For the flattening filter‐free photon beams, the dose from stray radiation far away from the target was slightly lower than the dose from a static treatment. The CyberKnife irradiation and the treatment using hard wedges increased the dose from stray radiation by nearly a factor of three compared to the 3D‐conformal treatment.Conclusions:This study showed that the dose outside of the treated volume is influenced by several sources. Therefore, when comparing different treatment techniques, the dose ratios vary with distance to the isocenter. The effective dose outside the treated volume of intensity‐modulated treatments with or without flattening filter was 10%–30% larger when compared to 3D‐conformal radiotherapy. This dose increase is much lower than the monitor unit scaled effective dose from a static treatment.
Proteomic analysis of proteins differentially expressed in conidia and mycelium of the entomopathogenic fungus Aschersonia placenta
Authors: Qiu Junzhi , Su Yubin , Gelbǐc Ivan , Qiu Yunfeng , Xie Xiaocong , Guan Xiong 
Published: December 2012

The infection of insects by the entomopathogenic fungus Aschersonia placenta depends on conidia. To identify proteins differentially expressed in A. placenta conidia vs mycelia, we performed a comparative proteomic analysis of A. placenta using 2-dimensional gel electrophoresis (2-DE) and matrix-assisted laser desorption ionization/time-of-flight mass spectrometry (MALDI-TOF-MS). We detected 1022 2-DE protein spots in conidia and 1049 in mycelia and analyzed 48 (13 from conidia and 35 from mycelia) using MALDI-TOF-MS. Finally, we identified 28 proteins (7 from conidia and 21 from mycelia). The identified proteins exclusive to conidia included major proteins participating in oxidation–reduction processes and vegetative insecticidal protein 1 (Vip1), a protein that is likely involved in pathogenicity. The identified proteins exclusive to mycelia were those involved in biosynthesis and metabolism, including uridine diphosphate galactopyranose mutase, which might play key roles in hyphal morphogenesis. This report provides the first proteomic analysis of different developmental stages of an Aschersonia species. Although only a small number of proteins were identified, the data represent a useful foundation for future studies concerning the molecular basis of entomopathogenicity in the species A. placenta and in the genus Aschersonia.