bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li‐Fraumeni or Li‐Fraumeni‐like syndrome
Authors: Sugawara Waka , Arai Yasuhito , Kasai Fumio , Fujiwara Yuiko , Haruta Masayuki , Hosaka Rie , Nishida Kazunori , Kurosumi Masashi , Kobayashi Yasuhito , Akagi Kiwamu , Kaneko Yasuhiko 
Published: April 2011

AbstractGermline TP53 mutations are found in Li‐Fraumeni syndrome (LFS) patients, predisposed to soft tissue sarcoma and other malignancies. The mutations and succeeding genetic events are thought to cause LFS‐associated cancer, whose genetic alterations have rarely been investigated. Here, we study two LFS or Li‐Fraumeni‐like syndrome (LFLS) patients whose cancers showed aggressive phenotypes. Patient 1 with LFS and TP53R273H developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years. A single‐nucleotide polymorphism array‐based analysis revealed two amplicons in the second tumor; one at 5q11.2 containing MAP3K1 and the other at 11q22.2 containing BIRC2/3 and YAP1. Increase of kinase signaling of MAP3K1 along with anti‐apoptosis function of BIRC2/3 may have facilitated progression of this tumor. Patient 2 with LFLS and wild‐typeTP53 suffered from acute myeloid leukemia. The leukemic cells had TP53I195T and two amplicons; one at 8q24.1 containing DEPDC6 and the other at 8q24.2 containing TRIB1, MYC, and PVT1. Quantitative PCR confirmed amplification of the genes and FISH revealed co‐amplification of DEPDC6 and PVT1 in the same double minutes. Quantitative RT‐PCR revealed increased expression levels of TRIB1, but no or little expression of DEPDC6, MYC, and PVT1. The results indicate that TRIB1 may be the target gene in the amplicon in the leukemia cells. Mutant TP53 can be engaged in pathways triggering gene amplification through impairment of DNA double‐stranded break repair. The amplified candidate oncogenes identified in this study may have played a part in cancer development and lead to the poor outcome of LFS or LFLS‐associated tumors. © 2011 Wiley‐Liss, Inc.
EWSR1‐ATF1 fusion is a novel and consistent finding in hyalinizing clear‐cell carcinoma of salivary gland
Authors: Antonescu Cristina R. , Katabi Nora , Zhang Lei , Sung Yun Shao , Seethala Raja R. , Jordan Richard C. , Perez‐Ordoñez Bayardo , Have Cherry , Asa Sylvia L. , Leong Iona T. , Bradley Grace , Klieb Hagen , Weinreb Ilan 
Published: April 2011

AbstractHyalinizing clear‐cell carcinoma (HCCC) is a rare, low‐grade salivary gland tumor with distinctive clear‐cell morphology and pattern of hyalinization as well as focal mucinous differentiation. However, histological overlap exists with other salivary gland tumors, such as epithelial–myoepithelial carcinoma (EMCa), salivary myoepithelial carcinoma, and mucoepidermoid carcinoma (MEC). The potential relationship between HCCC and its morphological mimics has not been yet investigated at the genetic level. In this study, we conducted a molecular analysis for the presence of rearrangements in MAML2, commonly seen in MECs, and EWSR1, involved in “soft tissue myoepithelial tumors” (SMET) by fusion with POU5F1, PBX1, or ZNF444. Fluorescence in situ hybridization (FISH) was performed on 23 HCCC cases for abnormalities in MAML2, EWSR1, FUS, POU5F1, PBX1, and ZNF444. FISH for MAML2 was negative in all cases (0 of 14), including those with mucinous differentiation (0 of 7). An EWSR1 rearrangement was identified in 18 of 22 HCCCs (82%), while no break‐apart signals were seen in FUS, POU5F1, PBX1, or ZNF444. 3′RACE on an EWSR1 rearranged HCCC identified an EWSR1‐ATF1 fusion, which was confirmed by RT‐PCR. ATF1 involvement was further confirmed by FISH analysis in 13 of 14 EWSR1‐rearranged HCCC cases (93%). In contrast, all control cases tested, including among others 5 EMCa and 3 MEC with clear cells, were negative for EWSR1 and ATF1 rearrangements. The presence of EWSR1‐ATF1 fusion in most HCCCs reliably separates these tumors from its histological mimics. The distinction from MEC is particularly important, as conventional MEC grading schemes overgrade these indolent HCCCs, potentially impacting on treatment. © 2011 Wiley‐Liss,Inc.
Norse–Inuit interaction and landscape change in southern Greenland? A geochronological, Pedological, and Palynological investigation
Authors: Golding Kirsty A. , Simpson Ian A. , Schofield J. Edward , Edwards Kevin J. 
Published: April 2011

AbstractRuins representing both medieval Norse and Inuit (Thule culture) settlements can be found together on the coast at Sandhavn (59°59′ N, 44°46′ W), Greenland. The site presents a rare opportunity to investigate the character of past contact and interaction between these two peoples. Soils‐based, radiocarbon, and palynological analyses demonstrate the creation of hortic anthrosols within Norse home‐fields used between the mid‐11th and late 14th centuries A.D. Irrigation channels have been identified within the home‐fields, while rising grass pollen influx reveals intensification in hay production over the period ca. A.D. 1260–1350 despite climatic deterioration setting in around this time. Floor deposits and wall packing from an Inuit winter house returned dates of cal. A.D. 1220–1290 (2σ), yet no direct landscape‐based evidence for Inuit activity could be determined. Although the exact nature of the relationship between Norse and Thule at Sandhavn remains unclear, the role of this site as a harbor and possible trading area may have attracted Inuit settlers keen to participate in European trade networks. © 2011 Wiley Periodicals, Inc.
Thalamic‐insular dysconnectivity in schizophrenia: Evidence from structural equation modeling
Authors: Corradi‐Dell'Acqua Corrado , Tomelleri Luisa , Bellani Marcella , Rambaldelli Gianluca , Cerini Roberto , Pozzi‐Mucelli Roberto , Balestrieri Matteo , Tansella Michele , Brambilla Paolo 
Published: April 2011

AbstractStructural and functional studies have shown that schizophrenia is often associated with frontolimbic abnormalities in the prefrontal and mediotemporal regions. It is still unclear, however, if such dysfunctional interaction extends as well to relay regions such as the thalamus and the anterior insula. Here, we measured gray matter volumes of five right‐hemisphere regions in 68 patients with schizophrenia and 77 matched healthy subjects. The regions were amygdala, thalamus, and entorhinal cortex (identified as anomalous by prior studies on the same population) and dorsolateral prefrontal cortex and anterior insula (isolated by voxel‐based morphometry analysis). We used structural equation modeling and found altered path coefficients connecting the thalamus to the anterior insula, the amygdala to the DLPFC, and the entorhinal cortex to the DLPFC. In particular, patients exhibited a stronger thalamus‐insular connection than healthy controls. Instead, controls showed positive entorhinal‐DLPFC and negative amygdalar‐DLPFC connections, both of which were absent in the clinical population. Our data provide evidence that schizophrenia is characterized by an impaired right‐hemisphere network, in which intrahemispheric communication involving relay structures may play a major role in sustaining the pathophysiology of the disease. Hum Brain Mapp, 2012. © 2011 Wiley Periodicals, Inc.
Reorganization of brain functional small‐world networks during finger movements
Authors: Jin Seung‐Hyun , Lin Peter , Hallett Mark 
Published: April 2011

AbstractA functional measure of brain organization is the efficiency of functional connectivity. The degree of functional connectivity can differ during a task compared to the rest, and to study this issue, we investigated the functional connectivity networks in healthy subjects during a simple, right‐handed, sequential finger‐tapping task using graph theoretic measures. EEGs were recorded from 58 channels in 15 healthy subjects at rest and during a motor task. We estimated mutual information values of wavelet coefficients to create an association matrix between EEG electrodes and produced a series of adjacency matrices or graphs, A, by thresholding with network cost. These graphs are called small‐world networks, and we assessed their efficiency measures. We found economical small‐world properties in brain functional connectivity networks in the alpha and beta band networks. The efficiency of the brain networks was enhanced during the task in the beta band networks, but not in the alpha band networks. A regional efficiency analysis during the task showed that the bilateral primary motor and left sensory areas showed increased nodal efficiency, Enodal, whereas decreased Enodal was found over the posterior parietal areas. The present study provides evidence for the reorganization of brain functional connectivity networks in a motor task with the greatest increase in Enodal in motor executive areas. Hum Brain Mapp, 2012. © 2011 Wiley Periodicals, Inc.
Communication with emblematic gestures: Shared and distinct neural correlates of expression and reception
Authors: Lindenberg Robert , Uhlig Marie , Scherfeld Dag , Schlaug Gottfried , Seitz Ruediger J. 
Published: April 2011

AbstractEmblematic (or symbolic) gestures allow individuals to convey a variety of thoughts and emotions ranging from approval to hostility. The use of such gestures involves the execution of a codified motor act by the addresser and its perception and decoding by the addressee. To examine underlying common and distinct neural correlates, we used fMRI tasks in which subjects viewed video clips of emblematic one‐hand gestures. They were asked to (1) take the perspective of the addresser and imagine executing the gestures (“expression” condition), and to (2) take the perspective of the addressee and imagine being confronted with the gestures (“reception” condition). Common areas of activation were found in inferior frontal, medial frontal, and posterior temporal cortices with left‐hemispheric predominance as well as in the cerebellum. The distinction between regions specifically involved in the expression or reception condition partly resembled the dorsal and ventral stream dichotomy of visual processing with junctions in inferior frontal and medial prefrontal cortices. Imagery of gesture expression involved the dorsal visual stream as well as higher‐order motor areas. In contrast, gesture reception encompassed regions related to semantic processing, and medial prefrontal areas known to be involved in the process of understanding the intentions of others. In conclusion, our results provide evidence for a dissociation in representations of emblematic gesture processing between addresser and addressee in addition to shared components in language‐related areas. Hum Brain Mapp, 2012. © 2011 Wiley Periodicals, Inc.
Patient complexity and GPS' income under mixed remuneration
Authors: Olsen K. R. 
Published: April 2011

SUMMARYBecause of problems with recruiting GPs to deprived areas in Denmark, it has been discussed whether the mixed remuneration scheme is flexible enough to compensate GPs serving patients with high need for services. The objective is to assess how patient heterogeneity affects list size, income and total utility of GPs operating under a mixed remuneration scheme. We adapt the model by Iversen (2004) as a theoretical framework for analysing the consequences of patient heterogeneity in a mixed remuneration system. We use a data set of Danish solo practitioners to analyse the effect of patient complexity on list size and income. From the theoretical model we find that higher levels of patient complexity lead GPs to choose a lower list size, whereas the effect on income is ambiguous. The effect on total utility (income and leisure) is, however, shown to be negative. Using empirical data from 1039 solo practices we find that patient complexity reduces both list size and income and conclude that a mixed per capita and fee for service remuneration system does not fully compensate practices with more complex patients. Differentiated per capita payment may represent a means of ensuring fair and equal income of GPs. Copyright © 2011 John Wiley & Sons, Ltd.
Evidence for area CA1 as a match/mismatch detector: A high‐resolution fMRI study of the human hippocampus
Authors: Duncan Katherine , Ketz Nicholas , Inati Souheil J. , Davachi Lila 
Published: April 2011

AbstractThe hippocampus is proposed to switch between memory encoding and retrieval by continually computing the overlap between what is expected and what is encountered. Central to this hypothesis is that area CA1 performs this calculation. However, empirical evidence for this is lacking. To test the theoretical role of area CA1 in match/mismatch detection, we had subjects study complex stimuli and then, during high‐resolution fMRI scanning, make memory judgments about probes that either matched or mismatched expectations. More than any other hippocampal subfield, area CA1 displayed responses consistent with a match/mismatch detector. Specifically, the responses in area CA1 tracked the total number of changes present in the probe. Additionally, area CA1 was sensitive to both behaviorally relevant and irrelevant changes, a key feature of an automatic comparator. These results are consistent with, and provide the first evidence in humans for, the theoretically important role of area CA1 as a match/mismatch detector. © 2011 Wiley Periodicals, Inc.
The 5‐HT7 receptor in learning and memory
Authors: Roberts Amanda J. , Hedlund Peter B. 
Published: April 2011

AbstractThe 5‐HT7 receptor is a more recently discovered G‐protein‐coupled receptor for serotonin. The functions and possible clinical relevance of this receptor are not yet fully understood. The present paper reviews to what extent the use of animal models of learning and memory and other techniques have implicated the 5‐HT7 receptor in such processes. The studies have used a combination of pharmacological and genetic tools targeting the receptor to evaluate effects on behavior and cellular mechanisms. In tests such as the Barnes maze, contextual fear conditioning and novel location recognition that involve spatial learning and memory there is a considerable amount of evidence supporting an involvement of the 5‐HT7 receptor. Supporting evidence has also been obtained in studies of mRNA expression and cellular signaling as well as in electrophysiological experiments. Especially interesting are the subtle but distinct effects observed in hippocampus‐dependent models of place learning where impairments have been described in mice lacking the 5‐HT7 receptor or after administration of a selective antagonist. While more work is required, it appears that 5‐HT7 receptors are particularly important in allocentric representation processes. In instrumental learning tasks both procognitive effects and impairments in memory have been observed using pharmacological tools targeting the 5‐HT7 receptor. In conclusion, the use of pharmacological and genetic tools in animal studies of learning and memory suggest a potentially important role for the 5‐HT7 receptor in cognitive processes. © 2011 Wiley Periodicals, Inc.
A Concise Route to Valacyclovir Hydrochloride
Authors: Vetukuri Prasada Raju V. N. K. V. , Vedantham Ravindra , Thippannachar Mathad Vijayavitthal , Reddy Padi Pratap , Anand Ramasamy Vijaya 
Published: April 2011

AbstractAn efficient and concise synthesis of valacyclovir hydrochloride (4), which is a prodrug of acyclovir (3) is described. The synthesis was accomplished in two stages by coupling acyclovir with (2S)‐2‐azido‐3‐methylbutanoic acid followed by reduction (Scheme 2).
Compared performance of a conceptual and a mechanistic hydrologic models of a green roof
Authors: Palla A. , Gnecco I. , Lanza L. G. 
Published: April 2011

AbstractIn order to investigate the hydrologic response of a green roof system within the urban environment, a monitoring campaign is carried out at the green roof site of the University of Genova (Italy). Experimental data confirm that the green roof is able to significantly mitigate the generation of runoff with median values of retained volume and peak reduction, respectively, equal to 94 and 98%. A conceptual linear reservoir and a simple mechanistic (Hydrus‐1D) models are implemented to simulate the hydrologic behaviour of the system; each model is calibrated and validated based on experimental data collected at the green roof site. The hydrographs simulated with both hydrologic models reproduce with acceptable matching capabilities the experimental measurements, as confirmed by the Nash‐Sutcliffe Efficiency index generally greater than 0·60. Although the relative percentage differences evaluated for the selected hydrograph variables (the total effluent volume, the peak flow rate and the hydrograph centroid) demonstrate that the mechanistic model is more accurate, prediction errors of the conceptual model are generally limited when compared with the observed hydrologic performance. Results of the present comparison are useful in supporting conceptual model selection in case the hydrologic response is addressed for hydrologic performance assessment. Copyright © 2011 John Wiley & Sons, Ltd.
Storage as a Metric of Catchment Comparison
Authors: McNamara James P. , Tetzlaff Doerthe , Bishop Kevin , Soulsby Chris , Seyfried Mark , Peters Norman E. , Aulenbach Brent T. , Hooper Richard 
Published: April 2011

AbstractThe volume of water stored within a catchment, and its partitioning among groundwater, soil moisture, snowpack, vegetation, and surface water are the variables that ultimately characterize the state of the hydrologic system. Accordingly, storage may provide useful metrics for catchment comparison. Unfortunately, measuring and predicting the amount of water present in a catchment is seldom done; tracking the dynamics of these stores is even rarer. Storage moderates fluxes and exerts critical controls on a wide range of hydrologic and biologic functions of a catchment. While understanding runoff generation and other processes by which catchmentsreleasewater will always be central to hydrologic science, it is equally essential to understand how catchmentsretainwater. We have initiated a catchment comparison exercise to begin assessing the value of viewing catchments from the storage perspective. The exercise is based on existing data from five watersheds, no common experimental design, and no integrated modelling efforts. Rather, storage was estimated independently for each site. This briefing presents some initial results of the exercise, poses questions about the definitions and importance of storage and the storage perspective, and suggests future directions for ongoing activities. Copyright © 2011 John Wiley & Sons, Ltd.
A remote sensing contribution to hydrologic modelling in arid and inaccessible watersheds, Pishin Lora basin, Pakistan
Authors: Sagintayev Z. , Sultan M. , Khan S. D. , Khan S. A. , Mahmood K. , Yan E. , Milewski A. , Marsala P. 
Published: April 2011

AbstractThe lack of adequate field measurements often hampers the construction and calibration of rainfall‐runoff models over many of the world's watersheds. We adopted methodologies that rely heavily on readily available remote sensing datasets as viable alternatives for assessing, managing, and modelling of such remote and inadequately gauged regions. The Soil and Water Assessment Tool was selected for continuous (1998–2005) rainfall‐runoff modelling of one such area, the northeast part of the Pishin Lora basin (NEPL). Input to the model included satellite‐based Tropical Rainfall Measuring Mission precipitation data, and modelled runoff was calibrated against satellite‐based observations, the latter included: (i) monthly estimates of the water volumes impounded by the Khushdil Khan (latitude 30°40′N, longitude 67°40′E), and the Kara Lora (latitude 30°34′N, longitude 66°52′E) reservoirs, and (ii) inferred wet versus dry conditions in streams across the NEPL. Calibrations were also conducted against observed flow reported from the Burj Aziz Khan station at the NEPL outlet (latitude 30°20′N; longitude 66°35′E). Model simulations indicate that (i) average annual precipitation (1998–2005), runoff and recharge in the NEPL are 1300 × 106 m3, 148 × 106 m3, and 361 × 106 m3, respectively; (ii) within the NEPL watershed, precipitation and runoff are high for the northeast (precipitation: 194 mm/year; runoff: 38 × 106 m3/year) and northwest (134 mm/year; 26 × 106 m3/year) basins compared to the southern basin (124 mm/year; 8 × 106 m3/year); and (3) construction of delay action dams in the northeast and northwest basins could increase recharge from 361 × 106 m3/year up to 432 × 106 m3/year and achieve sustainable extraction. The adopted methodologies are not a substitute for traditional approaches, but they could provide first‐order estimates for rainfall, runoff, and recharge in the arid and semi‐arid parts of the world that are inaccessible and/or lack adequate coverage with field data. Copyright © 2011 John Wiley & Sons, Ltd.
Effects of changes in snow pattern and the timing of runoff on NYC water supply system
Authors: Matonse Adão H. , Pierson Donald C. , Frei Allan , Zion Mark S. , Schneiderman Elliot M. , Anandhi Aavudai , Mukundan Rajith , Pradhanang Soni M. 
Published: April 2011

AbstractThis study focuses on the effect of projected changes in rainfall, snow accumulation and snowmelt, and consequent changes in the timing of runoff on NYC water supply system storage and operation as simulated by the NYC reservoir system Operational Analysis and Simulation of Integrated Systems (OASIS) model. The Generalized Watershed Loading Functions—Variable Source Area (GWLF‐VSA)—watershed model is used with future climate scenarios derived from different General Circulation Models (GCMs) to simulate future inflows to reservoirs that are part of the New York City Water Supply System (NYCWSS). Future scenarios that use current system operation rules and demands, but changed reservoir inflows, suggest that changes in precipitation and snowmelt will affect regional water availability on a seasonal basis. The combined effect of projected increases in winter air temperatures, increased winter rain, and earlier snowmelt may result in more runoff during winter. This will cause reservoir storage levels, water releases and spills to increase during the winter and earlier reservoir refill in the spring. An overall increase in precipitation will result in a reduction in number of days the system is under drought conditions, despite increased evapotranspiration later in the year. Copyright © 2011 John Wiley & Sons, Ltd.