bluuebunny/crossref_metadata_2025_split huggingface dataset:
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH
Authors: Kantarci Sibel , Ackerman Kate G. , Russell Meaghan K. , Longoni Mauro , Sougnez Carrie , Noonan Kristin M. , Hatchwell Eli , Zhang Xiaoyun , Vanmarcke Rafael Pieretti , Anyane‐Yeboa Kwame , Dickman Paul , Wilson Jay , Donahoe Patricia K. , Pober Barbara R. 
Published: August 2010

AbstractCytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N = 179) for microdeletions in this interval by the multiplex ligation‐dependent probe amplification (MLPA) technique, and also sequenced two candidate genes located therein, dispatched 1 (DISP1) and homo sapiens H2.0‐like homeobox (HLX). MLPA analysis verified deletions of this region in two cases, an unreported patient with a 46,XY,del(1)(q41q42.13) karyotype and a previously reported patient with a Fryns syndrome phenotype [Kantarci et al., 2006]. HLX sequencing showed a novel but maternally inherited single nucleotide variant (c.27C>G) in a patient with isolated CDH, while DISP1 sequencing revealed a mosaic de novo heterozygous substitution (c.4412C>G; p.Ala1471Gly) in a male with a left‐sided Bochdalek hernia plus multiple other anomalies. Pyrosequencing demonstrated the mutant allele was present in 43%, 12%, and 4.5% of the patient's lymphoblastoid, peripheral blood lymphocytes, and saliva cells, respectively. We examined Disp1 expression at day E11.5 of mouse diaphragm formation and confirmed its presence in the pleuroperitoneal fold, as well as the nearby lung which also expresses Sonic hedgehog (Shh). Our report describes the first de novo DISP1 point mutation in a patient with complex CDH. Combining this finding with Disp1 embryonic mouse diaphragm and lung tissue expression, as well as previously reported human chromosome 1q41q42 aberrations in patients with CDH, suggests that DISP1 may warrant further consideration as a CDH candidate gene. © 2010 Wiley‐Liss, Inc.
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
Authors: Mahajan Vinit B. , Olney Ann Haskins , Garrett Penny , Chary Ajit , Dragan Ecaterina , Lerner Gary , Murray Jeffrey , Bassuk Alexander G. 
Published: August 2010

AbstractKnobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1 revealed a homozygous, 2‐bp deletion (c3514‐3515delCT) in exon 41, which leads to abnormal collagen XVIII and deficiency of its proteolytic cleavage product endostatin. KNO patients with mutations in COL18A1 may be at risk for endostatin‐related conditions including malignancy. © 2010 Wiley‐Liss, Inc.
Barber–Say syndrome in a father and daughter
Authors: Roche Nathalie , Houtmeyers Philippe , Janssens Sandra , Blondeel Philllip 
Published: August 2010

AbstractWe report on a father to daughter transmission of Barber–Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach. © 2010 Wiley‐Liss, Inc.
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population
Authors: Pan Yongchu , Ma Junqing , Zhang Weibin , Du Yifei , Niu Yuming , Wang Meilin , Zhang Zhengdong , Wang Lin 
Published: August 2010

AbstractIRF6 plays an important role in orofacial development. In the present study, we genotyped two polymorphisms (rs642961 and rs2235371) within the IRF6 locus and estimated their associations with risk of nonsyndromic orofacial clefts (NSOC), including the subgroups, in a hospital‐based case–control study in a Chinese Han population. In the single locus analyses, we found rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), while significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes. When examining the combined effects of these two polymorphisms and using the rs642961 A and rs2235371 C alleles as the risk alleles, we found genotypes containing 2–4 risk alleles conferred high risk to NSOC, CL/P, and CLP. Furthermore, to test whether rs642961 could modulate IRF6 expression in vivo, we surgically collected lip skin tissues within the adjacent region of lip cleft site and found rs642961 genotypes were associated with differential levels of IRF6 mRNA and protein expression in an allele‐dosage manner, providing the first evidence that rs642961 affected IRF6 expression in vivo. Taken together, these findings confirm the contribution of IRF6 genetic variants in the etiology of NSOC in a Chinese Han population. © 2010 Wiley‐Liss, Inc.
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
Authors: Collins Stephen C. , Bray Steven M. , Suhl Joshua A. , Cutler David J. , Coffee Bradford , Zwick Michael E. , Warren Stephen T. 
Published: August 2010

AbstractFragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG‐repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled‐template massively parallel sequencing, we identified 130 novel FMR1 sequence variants in a population of 963 developmentally delayed males without CGG‐repeat expansion mutations. Among these, we identified a novel missense change, p.R138Q, which alters a conserved residue in the nuclear localization signal of FMRP. We have also identified three promoter mutations in this population, all of which significantly reduce in vitro levels of FMR1 transcription. Additionally, we identified 10 noncoding variants of possible functional significance in the introns and 3′‐untranslated region of FMR1, including two predicted splice site mutations. These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay. © 2010 Wiley‐Liss, Inc.
Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain
Authors: Donsante Anthony , Johnson Paul , Jansen Laura A. , Kaler Stephen G. 
Published: August 2010

AbstractThe primary mechanism of copper transport to the brain is unknown, although this process is drastically impaired in Menkes disease, an X‐linked neurodevelopmental disorder caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Potential central nervous system entry routes for copper include brain capillary endothelial cells that originate from mesodermal angioblasts and form the blood–brain barrier, and the choroid plexuses, which derive from embryonic ectoderm, and form the blood–cerebrospinal fluid barrier. We exploited a rare (and first reported) example of somatic mosaicism for an ATP7A mutation to shed light on questions about copper transport into the developing brain. In a 20‐month‐old Menkes disease patient evaluated before copper treatment, blood copper, and catecholamine concentrations were normal, whereas levels in cerebrospinal fluid were abnormal and consistent with his neurologically severe phenotype. We documented disparate levels of mosaicism for an ATP7A missense mutation, P1001L, in tissues derived from different embryonic origins; allele quantitation showed P1001L in approximately 27% of DNA samples from blood cells (mesoderm‐derived) and 88% from cultured fibroblasts (ectoderm‐derived). These findings imply that the P1001L mutation in the patient preceded formation of the three primary embryonic lineages at gastrulation, with the ectoderm layer ultimately harboring a higher percentage of mutation‐bearing cells than mesoderm or endoderm. Since choroid plexus epithelia are derived from neuroectoderm, and brain capillary endothelial cells from mesodermal angioblasts, the clinical and biochemical findings in this infant support a critical role for the blood–CSF barrier (choroid plexus epithelia) in copper entry to the developing brain. © 2010 Wiley‐Liss, Inc.
Synthesis of Zn/Mg oxide nanoparticles and its influence on sulfur vulcanization
Authors: Guzmán Manuel , Reyes Guillermo , Agulló Núria , Borrós Salvador 
Published: August 2010

AbstractTo reduce the ZnO levels in rubber compounds, mixed metal oxide nanoparticles of zinc and magnesium (Zn1−xMgxO) have been synthesized and used as activator. The aim is to obtain better curing properties due to its nanosize and to take advantage of the behavior of both ZnO and MgO in sulfur vulcanization. The model compound vulcanization approach with squalene as a model molecule for NR and CBS as accelerator has been used to study the role of the mixed metal oxide along the reaction. The results found show that with Zn1–xMgxO nanoparticles the reaction of CBS becomes faster, higher amounts of MBT are formed at shorter reaction times, and the consumption of sulfur occurs faster in comparison with standard ZnO. Furthermore and more important, an increased crosslink degree calculated as the total amount of crosslinked squalene is obtained. All these findings indicate that Zn1−xMgxO is a promising candidate to reduce the ZnO levels in rubber compounds. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Crystallization of amorphous poly(lactic acid) induced by organic solvents
Authors: Naga Naofumi , Yoshida Yuji , Inui Masaya , Noguchi Keiichi , Murase Shigemitsu 
Published: August 2010

AbstractCrystallization of amorphous poly(lactic acid) (PLA) was investigated in various organic solvents, such as acetone, ethylacetate, diethylether, tetrahydrofurane, methanol, hexane, toluene, xylene, and o‐dichlorobenene. Most of the solvents, except hexane, induced crystallization of amorphous PLA. Acetone was the most effective solvent to accelerate the crystallization among the solvents used. The crystallization was induced by permeation of acetone into the amorphous phase of PLA, and the permeation obeyed Fick type diffusion. The crystallization rate increased with increasing of conducting temperature. Crystallized PLA formed α crystalline structure. The permeated acetone in the crystallized PLA gradually evaporated as time passes, and the elimination of acetone affected thermal and mechanical properties of the crystallized PLA. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Evaluation of interfacial layer properties in the polystyrene/silica nanocomposite
Authors: Mortezaei Mehrzad , Farzi Gholamali , Kalaee Mohammad Reza , Zabihpoor Mahmood 
Published: August 2010

AbstractProcessing conditions and final mechanical properties of polymer nanocomposites are affected by their interfacial layers behavior. However, it is impossible to determine directly the properties of these layers by dynamic rheometry tests. In this work, the interfacial layers properties are evaluated for polystyrene containing silica nanoparticles by the concept of glass‐transition temperature shift. The samples were prepared via solution‐mixing method and dynamic rheometry was used to determine the viscoelastic behavior of filled polymers in the melt state. This initial step showed that addition of silica particles increased the glass‐transition temperature. By preference, decrease in the filler particle size lead to a drastic increase in the glass‐transition temperature and interfacial layer volume fraction due to relatively high surface area of the small filler particles. Then, in the next step, the viscoelastic properties of interfacial layer have been evaluated on the basis of the properties of neat polystyrene using temperature‐frequency superposition law. For this purpose, the shift factor was calculated from the glass‐transition temperature of the sample with maximum filler content. Finally, the effect of immobilized interfacial layer on the viscoelastic properties of the polymer nanocomposite samples has been estimated. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
The adsorption of sulphonated azo‐dyes methyl orange and xylenol orange by coagulation on hollow chitosan microsphere
Authors: Wang Shan , Yu Demei , Huang Yi , Guo Jinchan 
Published: August 2010

AbstractChitosan (CS) can be used as adsorbent in the treatment of effluents from the textile industry, especially for negatively charged dyes, due to its cationic polyelectrolyte nature. In this work, the adsorption of a model dye, methyl orange, xylenol orange on hollow CS microsphere is analyzed. Adsorption of methyl orange, xylenol orange onto cross‐linked CS is realized by means of analysis of pH influence, agitation time, and initial concentration of the dye. The results obtained from the experiment shows that the adsorption capacities of the two dye‐hollow CS microsphere systems are higher than those stated in other literature using CS particles. The difference in the degree of adsorption may also be attributed to the size and chemical structure of the dye molecule. The results have demonstrated that monovalent and smaller dye molecular sizes have superior capacities due to the increase in dye/CS surface ratio in the system and deeper penetration of dye molecules into the internal pore structure of hollow CS microsphere. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Numerical approach to modeling fiber motion during melt blowing
Authors: Zeng Y. C. , Sun Y. F. , Wang X. H. 
Published: August 2010

AbstractMelt blowing involves applying a jet of hot air to an extruding polymer melt and drawing the polymer stream into microfibers. This study deals with the dynamic modeling of the instabilities and related processes during melt blowing. A bead‐viscoelastic element model for fiber formation simulation in the melt blowing process was proposed. Mixed Euler‐Lagrange approach was adopted to derive the governing equations for modeling the fiber motion as it is being formed below a melt‐blowing die. The three‐dimensional paths of the fiber whipping in the melt blowing process were calculated. Predicted parameters include fiber diameter, fiber temperature, fiber stress, fiber velocity, and the amplitude of fiber whipping. The mathematical model provides a clear understanding on the mechanism of the formation of microfibers during melt blowing. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Influence of crosslinkers and crosslinking method on the properties of gelatin films extracted from leather solid waste
Authors: Catalina M. , Attenburrow G. E. , Cot J. , Covington A. D. , Antunes A. P. M. 
Published: August 2010

AbstractGelatin was extracted from chrome tanned leather waste with the aim to produce a durable coating or film. Crosslinking has shown to improve the physical performance of a film/coating. The effect of the method of crosslinking and the use of different crosslinking agents were studied. The extracted gelatin was crosslinked either by immersion of preformed films into a crosslinker solution (Method A) or by the addition of the crosslinking reagent to the gelatin solution prior to film formation (Method B). The different results obtained between both methods may be due to: the relative concentration of crosslinking reagent, the introduction of crosslinks within different regions of gelatin (triple helical regions and random coil regions), and the reaction rate. Method A of crosslinking is more likely to form crosslinks outside but close to the triple helical regions, disrupting the order and stability of the helical structure. Crosslinks may form preferentially within the random coil regions when Method B of crosslinking is used. Both methods led to the formation of chemical crosslinks in the extracted gelatin films, as demonstrated by the reduction of the degree of aqueous swelling and the proportion of low molecular weight fractions. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Predicting cohesive failure in thermosets
Authors: Adolf Douglas B. , Chambers Robert S. , Elisberg Brenton , Stavig Mark , Ruff Mary 
Published: August 2010

AbstractModeling of stresses in epoxies used as adhesives, coatings, or encapsulants in electronic packaging can guide an engineer to more robust designs and material selections. However, stresses by themselves allow evaluation of qualitative trends only. Quantitative assessment of design margins requires some knowledge of when stresses become excessive and failure is imminent. In this study, stresses were predicted accurately in a wide variety of tests, and the state of stress and strain was examined at the point of experimental failure to extract a single scalar metric that design engineers could use to correlate with the observed initiation of cracking. A value of the maximum principal strain of roughly 40% satisfactorily matched data encompassing different geometries, modes of deformation, and test temperature and is apparently linked to a physical mechanism of failure arising from “run‐away” nonlinear viscoelasticity. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Use of solid residue from olive kernel pyrolysis for polymer matrix composite manufacturing: Physical and mechanical characterization
Authors: Papanicolaou G. C. , Xepapadaki A. G. , Angelakopoulos G. C. , Zabaniotou A. , Ioannidou O. 
Published: August 2010

AbstractThis study is aiming at the production of carbon material from agricultural residues by pyrolysis and their further use for the production of green polymeric composites. The development of an agricultural‐based polymer matrix compatible with olive pits and consequently a fully biodegradable composite system is the future and ultimate goal of the undertaken research. In this study, pyrolysis of olive kernels was conducted at 800°C for 1 h. Furthermore, elemental, proximate, and metal analyses were performed for to the raw material and the produced char. The analyses showed that the pyrolytic char from olive kernel is a carbon rich material with significant concentration in metals, which can be further studied as additive for the production of green materials. For that purpose, samples made out of epoxy matrix, reinforced with pyrolytic char from olive kernel at different concentrations, were manufactured and mechanically characterized at three point bending conditions. A maximum increase of 60% in bending modulus in comparison to the net matrix modulus was achieved. The new material developed in the present investigation is a green composite with an elastic modulus 60% higher than that of the pure matrix. Results were also compared with predictions derived by the application of a theoretical model previously developed by the first author for the evaluation of the elastic modulus in particulate composites taking into account not only the effect of filler‐matrix adhesion but also the degree of dispersion of fillers into the matrix. It was found that predicted values as derived from the application of the model were in very good agreement with experimental findings. © 2010 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Inter‐annual variability in amphibian assemblages: implications for diversity assessment and conservation
Authors: Gómez‐Rodríguez Carola , Díaz‐Paniagua Carmen , Bustamante Javier , Portheault Alexandre , Florencio Margarita 
Published: August 2010

Abstract
Diversity assessments and conservation management should take into account the dynamic nature of populations and communities, particularly when they are subject to highly variable and unpredictable environmental conditions.
This study evaluates the inter‐annual variability in the assemblage composition (temporal turnover) of an amphibian community breeding in a highly dynamic habitat, a Mediterranean temporary pond system, during a 4‐year period.
A comprehensive framework is provided to evaluate temporal turnover from data of a differing nature (species richness, presence/absence and relative abundance) and, especially, to discern variation in richness (species loss) from changes in the identity or abundance of species (species replacement).
Results show that the pond amphibian assemblages in Doñana National Park exhibited high inter‐annual variability during the study period, both in the number of species, species identity and their relative abundance. This result provides evidence for the inadequacy of surveys conducted only in one breeding season to characterize the species assemblage associated with a given pond. Besides, it suggests that a given pond offers different breeding opportunities over time, being suitable for different species depending on the year. This alternation will contribute to the medium‐term preservation of all species in the assemblage.
It is highly relevant to preserve the natural dynamism and spatial variability of temporary pond systems, which will favour the conservation of populations through their intrinsic variability. Copyright © 2010 John Wiley & Sons, Ltd.
Identifying the origins of fishing gear ingested by seabirds: a novel multivariate approach
Authors: Ridley Cindy , Harrison Nancy M. , Phillips R. A. , Pugh P. J. A. 
Published: August 2010

Abstract
The global decline of albatrosses (Diomedidae: Procellariiformes) is thought to have occurred largely as a direct result of fishery‐related mortality. Albatrosses and other large petrels interact with fisheries in several ways, including scavenging used bait and discarded offal, which may contain hooks.
Hooks that are ingested by breeding birds are often fed to chicks which subsequently regurgitate them shortly before fledging.
In this study a series of mathematical (cladistic, cluster and principal components) analyses are applied to a sample of 241 items of fishing gear (hook, snood and hook/snood unit) collected from seabird nest sites on Bird Island, South Georgia, and 44 reference gear items provided by four South Atlantic regional fisheries.
The five separate analyses failed to assign most gear to a particular fishery or to identify any consistent annual trends. The homogeneous nature of the material, which was largely derived from the same manufacturers, meant that gear origin could not be determined. This suggests that hooks found at seabird colonies in this, and potentially other regions, will be of limited use in identifying offending fisheries, unless operators are obliged to deploy gear with unique marks in the future.
Nevertheless, it is suggested that this approach should work effectively where birds interact with a range of fisheries targeting different species using variable gear. This study therefore represents an innovative approach to the characterization of lost fishing gear with potentially widespread application. Copyright © 2010 John Wiley & Sons, Ltd.
Guaranteed cost PID control for uncertain discrete‐time stochastic systems with additive gain perturbations
Authors: Mukaidani Hiroaki 
Published: August 2010

AbstractThis paper investigates a novel design method for robust nonfragile proportional‐integral‐derivative (PID) control that is based on the guaranteed cost control (GCC) problem for a class of uncertain discrete‐time stochastic systems with additive gain perturbations. On the basis of linear matrix inequality (LMI), a class of fixed PID controller parameters is obtained, and some sufficient conditions for the existence of the GCC are derived. Although the additive gain perturbations are included in the feedback systems, both the stability of closed‐loop systems and adequate cost bound are attained. As a sequel, decentralized GCC PID for a class of discrete‐time uncertain large‐scale stochastic systems is also considered. Finally, the numerical results demonstrate the efficiency of the proposed controller synthesis.Copyright © 2010 John Wiley and Sons Asia Pte Ltd and Chinese Automatic Control Society