bluuebunny/crossref_metadata_2025_split huggingface dataset:
A newborn with overlapping features of AEC and EEC syndromes
Authors: Celik Tolga Hasan , Buyukcam Ayse , Simsek‐Kiper Pelin Ozlem , Utine Gulen Eda , Ersoy‐Evans Sibel , Korkmaz Ayse , Yntema Helger G. , Bodugroglu Koray , Yurdakok Murat 
Published: November 2011

AbstractEctrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb‐mammary syndrome (LMS), Rapp‐Hodgkin syndrome (RHS), ADULT syndrome, and others. All these disorders include combinations of ectodermal dysplasia, orofacial clefting and limb malformations in variable severity. A newborn patient is presented with diffuse erythematous and desquamating skin lesions and anal atresia. She also had sparse and lightly colored thin hair, deeply set eyes, hypoplastic alae nasi, and a short philtrum. Cleft lip/palate and ankyloblepharon were not present. Complete cutaneous syndactyly was present on both hands in between the third and fourth fingers. Mild ectrodactyly was evident on all four extremities in between first and second digits. There was post‐axial polydactyly on both feet. Anal atresia was present and defecation occurred through a rectovaginal fistula. The patient represented an interesting overlapping clinical condition between AEC and EEC syndromes. Diffuse skin lesions with excoriation and desquamation suggest AEC syndrome, despite the absence of ankyloblepharon, however; ectrodactyly and polydactyly strongly suggest the EEC syndrome. C308Y mutation in exon 8 of TP63 gene was detected, which was previously described to lead only to EEC syndrome and not to any of the other allelic conditions. These data emphasize the large degree of clinical variability that may be seen for specific TP63 mutations. © 2011 Wiley Periodicals, Inc.
Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A
Authors: Hisama Fuki M. , Lessel Davor , Leistritz Dru , Friedrich Katrin , McBride Kim L. , Pastore Matthew T. , Gottesman Gary S. , Saha Bidisha , Martin George M. , Kubisch Christian , Oshima Junko 
Published: November 2011

AbstractClassical Hutchinson–Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin. HGPS patients present in early childhood with atherosclerosis and striking features of accelerated aging. We report on two pedigrees of adult‐onset coronary artery disease with progeroid features, who were referred to our International Registry of Werner Syndrome (WS) because of clinical features consistent with the diagnosis. No mutations were identified in the WRN gene that is responsible for WS, among these patients. Instead, we found two novel heterozygous mutations at the junction of exon 10 and intron 11 of the LMNA gene. These mutations resulted in the production of progerin at a level substantially lower than that of HGPS. Our findings indicate that LMNA mutations may result in coronary artery disease presenting in the fourth to sixth decades along with short stature and a progeroid appearance resembling WS. The absence of early‐onset cataracts in this setting should suggest the diagnosis of progeroid laminopathy. This study illustrates the evolving genotype–phenotype relationship between the amount of progerin produced and the age of onset among the spectrum of restrictive dermopathy, HGPS, and atypical forms of WS. © 2011 Wiley Periodicals, Inc.
Split hand‐split foot‐ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation
Authors: Kantaputra Piranit N. , Matangkasombut Oranart , Sripathomsawat Warissara 
Published: November 2011

AbstractWe report on a mother and son who were affected with split hand‐split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow‐growing. Scanning electron micrography of their scalp hair showed hypoplastic hair bulbs, partial loss of hair cuticles, and frayed hair shafts. The son was affected with amelogenesis Imperfecta (hypocalcification, hypoplasia, and hypomaturation types), in the primary and permanent dentition. An unerupted supernumerary maxillary second premolar and fusion of mandibular incisors were observed in the primary dentition and their permanent successors. Mutation analysis showed a c.588‐2A > C mutation in TP63 in the mother and her son. It is predicted that an alternative splice site was used, specifically the AG located just three nucleotides upstream. Use of this site is predicted to include three extra nucleotides in the transcript and thus incorporation of a single extra amino acid (p.Thr195_Tyr196insPro). This is the first time that amelogenesis imperfecta, fusion of teeth, and a supernumerary premolar have been shown to be associated with a TP63 mutation. © 2011 Wiley Periodicals, Inc.
Effect of knowledge complementation grouping strategy for cooperative learning on online performance and learning achievement
Authors: Jong Bin‐Shyan , Chen Chien‐Ming , Chan Te‐Yi , Lin Tsong‐Wuu , Hsia Yen‐Teh 
Published: November 2011

AbstractOne of the major goals of learning is to obtain knowledge and skills. It is therefore of importance to study the following issues: how the online performances of learners may be extracted from their learning portfolios, how their learning motivations can be improved, and whether their learning achievements can be improved as a result. This study extracts online performances from portfolios and shows that there is a positive correlation between online performance and learning achievement. Subjects of the experimental group were teamed by complementation of knowledge, whereas subjects of the control group were teamed by random. Final ANOVA tests showed that there was a significant difference in both online performances and learning achievements. Subjects of the experimental group were better motivated due to complementation of knowledge; this in turn resulted in better online performances and learning achievements for these subjects.Copyright © 2011 Wiley Periodicals, Inc. Comput Appl Eng Educ 22:541–550, 2014; View this article online atwileyonlinelibrary.com/journal/cae; DOI10.1002/cae.10.1002/cae.20579
Copper(II)‐Catalyzed Hydrosilylation of Ketones Using Chiral Dipyridylphosphane Ligands: Highly Enantioselective Synthesis of Valuable Alcohols
Authors: Yu Feng , Zhou Ji‐Ning , Zhang Xi‐Chang , Sui Yao‐Zong , Wu Fei‐Fei , Xie Lin‐Jie , S. C. Chan Albert , Wu Jing 
Published: November 2011

AbstractIn the presence of PhSiH3 as the reductant, the combination of enantiomeric dipyridylphosphane ligands and Cu(OAc)2⋅H2O, which is an easy‐to‐handle and inexpensive copper salt, led to a remarkably practical and versatile chiral catalyst system. The stereoselective formation of a selection of synthetically interesting β‐, γ‐ or δ‐halo alcohols bearing high degrees of enantiopurity (up to 99.9 % enantiomeric excess (ee)) was realized with a substrate‐to‐ligand molar ratio (S/L) of up to 10 000. The present protocol also allowed the hydrosilylation of a diverse spectrum of alkyl aryl ketones with excellent enantioselectivities (up to 98 % ee) and exceedingly high turn‐over rates (up to 50 000 S/L molar ratio in 50 min reaction time) in air, under very mild conditions, which offers great opportunities for the preparation of various physiologically active targets. The synthetic utility of the chiral products obtained was highlighted by the efficient conversion of optically enriched β‐halo alcohols into the corresponding styrene oxide, β‐amino alcohol, and β‐azido alcohol, respectively.
Computational Study of Bond Dissociation Enthalpies for Substituted β‐O‐4 Lignin Model Compounds
Authors: Younker Jarod M. , Beste Ariana , Buchanan A. C. 
Published: November 2011

AbstractThe biopolymer lignin is a potential source of valuable chemicals. Phenethyl phenyl ether (PPE) is representative of the dominant β‐O‐4 ether linkage. DFT is used to calculate the Boltzmann‐weighted carbon–oxygen and carbon–carbon bond dissociation enthalpies (BDEs) of substituted PPE. These values are important for understanding lignin decomposition. Exclusion of all conformers that have distributions of less than 5 % at 298 K impacts the BDE by less than 1 kcal mol−1. We find that aliphatic hydroxyl/methylhydroxyl substituents introduce only small changes to the BDEs (0–3 kcal mol−1). Substitution on the phenyl ring at the ortho position substantially lowers the CO BDE, except in combination with the hydroxyl/methylhydroxyl substituents, for which the effect of methoxy substitution is reduced by hydrogen bonding. Hydrogen bonding between the aliphatic substituents and the ether oxygen in the PPE derivatives has a significant influence on the BDE. CCSD(T)‐calculated BDEs and hydrogen‐bond strengths of ortho‐substituted anisoles, when compared with M06‐2X values, confirm that the latter method is sufficient to describe the molecules studied and provide an important benchmark for lignin model compounds.
OTX2 and CRX rescue overlapping and photoreceptor‐specific functions in the Drosophila eye
Authors: Terrell David , Xie Baotong , Workman Michael , Mahato Simpla , Zelhof Andrew , Gebelein Brian , Cook Tiffany 
Published: November 2011

AbstractBackground: Otd‐related transcription factors are evolutionarily conserved to control anterior patterning and neurogenesis. In humans, two such factors, OTX2 and CRX, are expressed in all photoreceptors from early specification through adulthood and associate with several photoreceptor‐specific retinopathies. It is not well understood how these factors function independently vs. redundantly, or how specific mutations lead to different disease outcomes. It is also unclear how OTX1 and OTX2 functionally overlap during other aspects of neurogenesis and ocular development. Drosophila encodes a single Otd factor that has multiple functions during eye development. Using the Drosophila eye as a model, we tested the ability of the human OTX1, OTX2, and CRX genes, as well as several disease‐associated CRX alleles, to rescue the different functions of Otd. Results: Our results indicate the following: OTX2 and CRX display overlapping, yet distinct subfunctions of Otd during photoreceptor differentiation; CRX disease alleles can be functionally distinguished based on their rescue properties; and all three factors are able to rescue rhabdomeric photoreceptor morphogenesis. Conclusions: Our findings have important implications for understanding how Otx proteins have subfunctionalized during evolution, and cement Drosophila as an effective tool to unravel the molecular bases of photoreceptor pathogenesis. Developmental Dynamics 241:215–228, 2012. © 2011 Wiley Periodicals, Inc.
Thymic stromal lymphopoietin (TSLP) acts as a potent mucosal adjuvant for HIV‐1 gp140 vaccination in mice
Authors: Van Roey Griet A. , Arias Mauricio A. , Tregoning John S. , Rowe George , Shattock Robin J. 
Published: November 2011

AbstractThe development of a successful vaccine against HIV is likely to require the induction of strong and long‐lasting humoral immune responses at the mucosal portal of virus entry. Hence, the design of a vaccine strategy able to induce mucosal antibodies and in particular specific IgA, may be crucial to providing immune protection. Nasal immunisation is known to induce specific IgG and IgA responses in the cervicovaginal mucosa; however, there is an urgent need for the development of safe, effective and accessible mucosal adjuvants for nasal application in humans. To reduce the potential for adverse events associated with some nasal adjuvants, we have assessed whether the B‐cell‐activating cytokines APRIL, BAFF and TSLP enhance humoral immune responses to HIV‐1 gp140. Following intranasal immunisation, TSLP but not APRIL or BAFF induced strong humoral responses both in serum and mucosa. The adjuvant effect of TSLP on humoral responses was similar to that of cholera toxin (CT). The use of TSLP as an adjuvant skewed both the cellular and humoral immune responses towards Th2 cells. This is the first time that TSLP has been demonstrated to have a positive effect as a mucosal adjuvant, and specifically to promote mucosal and systemic responses to HIV gp140.
Constraints for monocyte‐derived dendritic cell functions under inflammatory conditions
Authors: Fekete Tünde , Szabo Attila , Beltrame Luca , Vivar Nancy , Pivarcsi Andor , Lanyi Arpad , Cavalieri Duccio , Rajnavölgyi Eva , Rethi Bence 
Published: November 2011

AbstractThe activation of TLRs expressed by macrophages or DCs, in the long run, leads to persistently impaired functionality. TLR signals activate a wide range of negative feedback mechanisms; it is not known, however, which of these can lead to long‐lasting tolerance for further stimulatory signals. In addition, it is not yet understood how the functionality of monocyte‐derived DCs (MoDCs) is influenced in inflamed tissues by the continuous presence of stimulatory signals during their differentiation. Here we studied the role of a wide range of DC‐inhibitory mechanisms in a simple and robust model of MoDC inactivation induced by early TLR signals during differentiation. We show that the activation‐induced suppressor of cytokine signaling 1 (SOCS1), IL‐10, STAT3, miR146a and CD150 (SLAM) molecules possessed short‐term inhibitory effects on cytokine production but did not induce persistent DC inactivation. On the contrary, the LPS‐induced IRAK‐1 downregulation could alone lead to persistent MoDC inactivation. Studying cellular functions in line with the activation‐induced negative feedback mechanisms, we show that early activation of developing MoDCs allowed only a transient cytokine production that was followed by the downregulation of effector functions and the preservation of a tissue‐resident non‐migratory phenotype.
Immunization induces activation of bone marrow eosinophils required for plasma cell survival
Authors: Chu Van T. , Berek Claudia 
Published: November 2011

AbstractEosinophils not only have multiple functions as effector cells of the innate immune system but also as modulators of immune responses. As producers of cytokines required for plasma cell survival, they are essential for the long‐term maintenance of plasma cells in the BM. Here we show that the activation of eosinophils both in vitro and in vivo enhances the expression of the plasma cell survival factors APRIL, IL‐6, IL‐4, IL‐10 and TNF‐α. The in vivo activation of eosinophils was independent of the type of adjuvant used for primary immunization. Although eosinophils were activated by adjuvant itself, a stable activation and a constant increase in BM eosinophils were observed only in the presence of antigen. Thus, the numbers and the quality of eosinophils were dependent on priming the adaptive immune system. With secondary immunization and re‐activation of antigen‐dependent memory cells, the ability of eosinophils to promote plasma cell survival was further increased. These findings suggest that in T‐cell‐dependent immune responses eosinophils are conditioned to support the long‐term survival of plasma cells in the BM, and furthermore imply that through accelerated numbers of eosinophils, stable plasma cell survival niches are established and the long‐term survival of plasma cells is ensured.
Virus‐like particles induce robust human T‐helper cell responses
Authors: Braun Marion , Jandus Camilla , Maurer Patrik , Hammann‐Haenni Anya , Schwarz Katrin , Bachmann Martin F. , Speiser Daniel E. , Romero Pedro 
Published: November 2011

AbstractAmong synthetic vaccines, virus‐like particles (VLPs) are used for their ability to induce strong humoral responses. Very little is reported on VLP‐based‐vaccine‐induced CD4+ T‐cell responses, despite the requirement of helper T cells for antibody isotype switching. Further knowledge on helper T cells is also needed for optimization of CD8+ T‐cell vaccination. Here, we analysed human CD4+ T‐cell responses to vaccination with MelQbG10, which is a Qβ‐VLP covalently linked to a long peptide derived from the melanoma self‐antigen Melan‐A. In all analysed patients, we found strong antibody responses of mainly IgG1 and IgG3 isotypes, and concomitant Th1‐biased CD4+ T‐cell responses specific for Qβ. Although less strong, comparable B‐ and CD4+ T‐cell responses were also found specific for the Melan‐A cargo peptide. Further optimization is required to shift the response more towards the cargo peptide. Nevertheless, the data demonstrate the high potential of VLPs for inducing humoral and cellular immune responses by mounting powerful CD4+ T‐cell help.
Structural Studies and Cytotoxicity of Trimethyl(ferrocenylmethyl)ammonium Iodide Encapsulated in β‐Cyclodextrin (Eur. J. Inorg. Chem. 32/2011)
Authors: Bruno Sofia M. , Fernandes José A. , Marques Joana , Neto Sara C. , Ribeiro‐Claro Paulo J. , Pillinger Martyn , Paz Filipe A. Almeida , Marques Maria Paula M. , Braga Susana S. , Gonçalves Isabel S. 
Published: November 2011

AbstractThe cover picture shows the structural model of an inclusion complex isolated after co‐dissolution of β‐cyclodextrin and trimethyl(ferrocenylmethyl)ammonium iodide in ethanol/water. A combination of crystallography and theoretical calculations showed that β‐cyclodextrin molecules form dimers stacked into infinite channels that accommodate the guest cations inside. The pure guest and the inclusion compound are cytotoxic against the breast adenocarcinoma cell line MDA‐MB‐231 but exhibit negligible activity on the osteosarcoma MG‐63 cell line. Details are discussed in the article by S. S. Braga, I. S. Gonçalves et al. on p. 4955 ff.
Rapid microparticle patterning by enhanced dielectrophoresis effect on a double‐layer electrode substrate
Authors: Cheng Wei , Li Si‐Zhe , Zeng Qian , Yu Xiao‐Lei , Wang Yu , Chan Helen Lai Wah , Liu Wei , Guo Shi‐Shang , Zhao Xing‐Zhong 
Published: November 2011

AbstractWe present a feasible dielectrophoresis (DEP) approach for rapid patterning of microparticles on a reusable double‐layer electrode substrate in microfluidics. Simulation analysis demonstrated that the DEP force was dramatically enhanced by the induced electric field on top interdigitated electrodes. By adjusting electric field intensity through the bottom electrodes on thin glass substrate (100 μm), polystyrene particles (10 μm) were effectively patterned by top electrodes within several seconds (<5 s). The particle average velocity can reach a maximum value of about 20.0±3.0 μm/s at 1 MHz with the strongest DEP force of 1.68 pN. This approach implements integration of functional electrodes into one substrate and avoids direct electrical connection to biological objects, providing a potential lab‐on‐chip system for biological applications.
Dynamic Thermal, Transport and Mechanical Model of Fuel Cell Membrane Swelling
Authors: Silverman T. J. , Meyers J. P. , Beaman J. J. 
Published: November 2011

AbstractWhen polymer electrolyte membrane materials are exposed to liquid water, they swell and distort. This frustrates the process of depositing liquid catalyst ink directly onto the membrane. We present a model predicting the transient compositional, thermal, and mechanical response of a membrane undergoing changes in water content. The model describes coupled heat and mass transfer and solid mechanics and is capable of describing the large changes in size and shape exhibited by a swelling membrane. Simulation results are presented for sorption and desorption and for the process of drying a saturated piece of membrane with an aqueous coating applied. We suggest that the well‐established discrepancy in the rate of sorption and desorption may be partially due to pressure‐driven diffusion effects absent in other models but present in ours. We also demonstrate that the model can represent the transient curling behavior of a membrane undergoing nonuniform changes in water content. The model will later be used to predict manufacturing defects caused by swelling‐induced wrinkling.
XIAP protects oligodendrocytes against cell death in vitro but has no functional role in toxic demyelination
Authors: Rena Hesse Amke , Hagemeier Karin , Lürbke Alexander , Held Jasmin , Friedman Hana , Peterson Alan , Brück Wolfgang , Kuhlmann Tanja 
Published: November 2011

AbstractOligodendroglial damage and loss are typical characteristics of demyelinating diseases such as multiple sclerosis (MS) and the leukodystrophies. Axonal loss is the underlying cause of permanent neurological deficits in MS and it is thought to arise from a combination of immune‐mediated axonal damage and the loss of trophic support to axons from myelin sheaths after demyelination. Prevention of oligodendroglial damage or death and demyelination are therefore attractive neuroprotective treatment strategies. However, a better understanding of mechanisms leading to oligodendroglial damage and demyelination is a prerequisite for the development of such treatment options. Here, we demonstrate that X‐linked inhibitor of apoptosis (XIAP), the most potent member of the inhibitor of apoptosis proteins (IAP) family is expressed in oligodendrocytes in vivo and in vitro. Increased expression of XIAP is associated with protection against selected cell death pathways, whereas decreased expression increases oligodendroglial cell death in vitro. However, lack of XIAP does not modulate oligodendroglial cell death in toxic demyelination in vivo. © 2011 Wiley Periodicals, Inc.
Magnetic field‐induced acceleration of the accumulation of magnetic iron oxide nanoparticles by cultured brain astrocytes
Authors: Lamkowsky Marie‐Christin , Geppert Mark , Schmidt Maike M. , Dringen Ralf 
Published: November 2011

AbstractMagnetic iron oxide nanoparticles (Fe‐NPs) are considered for various biomedical and neurobiological applications that involve the presence of external magnetic fields. However, little is known on the effects of a magnetic field on the uptake of such particles by brain cells. Cultured brain astrocytes accumulated dimercaptosuccinate‐coated Fe‐NP in a time‐, temperature‐, and concentration‐dependent manner. This accumulation was strongly enhanced by the presence of the magnetic field generated by a permanent neodymium iron boron magnet that had been positioned below the cells. The magnetic field‐induced acceleration of the accumulation of Fe‐NP increased almost proportional to the strength of the magnetic field applied, increasing the cellular‐specific iron content from an initial 10 nmol/mg protein within 4 h of incubation at 37°C to up to 12,000 nmol/mg protein. However, presence of a magnetic field also increased the amounts of iron that attached to the cells during incubation with Fe‐NP at 4°C. These results suggest that the presence of an external magnetic field promotes in cultured astrocytes both the binding of Fe‐NP to the cell membrane and the internalization of Fe‐NP. © 2011 Wiley Periodicals, Inc. J Biomed Mater Res Part A, 2012.
Blood platelet adhesion to printed von Willebrand factor
Authors: Davydovskaya Polina , Janko Marek , Gaertner Florian , Ahmad Zerkah , Simsek Özlem , Maßberg Steffen , Stark Robert W. 
Published: November 2011

AbstractVon Willebrand factor (vWF), a glycoprotein in blood, mediates the adhesion of blood platelets and thus plays a crucial role in hemostasis and thrombosis. Functional coating of surfaces with vWF allows the investigation of in vitro adhesion of blood platelet. We used soft lithography to create a functional patterned substrate. vWF was printed on plasma‐treated glass and mica surfaces, producing elongated network‐like fibril structures. A minimum layer thickness of 3 nm was observed, corresponding to the height of a monolayer of vWF. The stability of the patterns was verified in a laminar fluid flow, and the bioactivity of the structures was tested with platelet adhesion experiments. Platelets adhered to and spread on printed vWF. These results indicate that printed vWF substrates are stable and functional in typical perfusion experiments, and thus provide a useful tool for studying thrombus formation in vitro. © 2011 Wiley Periodicals, Inc. J Biomed Mater Res Part A, 2012.