bluuebunny/crossref_metadata_2025_split huggingface dataset:
Accumulation of CD11b+ Lung Dendritic Cells in Response to Fungal Infection Results from the CCR2-Mediated Recruitment and Differentiation of Ly-6Chigh Monocytes
Authors: Osterholzer John J. , Chen Gwo-Hsiao , Olszewski Michal A. , Curtis Jeffrey L. , Huffnagle Gary B. , Toews Galen B. 
Published: November 2009

AbstractPulmonary clearance of the encapsulated yeast Cryptococcus neoformans is associated with the CCR2-mediated accumulation of lung dendritic cells (DC) and the development of a T1 adaptive immune response. The objective of this study was to identify the circulating DC precursor(s) responsible for this large increase in lung DC numbers. An established murine model was used to evaluate putative DC precursors in the blood, bone marrow, and lungs of CCR2+/+ mice and CCR2−/− mice throughout a time course following infection with C. neoformans. Results demonstrate that numbers of Ly-6Chigh monocytes increased in parallel in the peripheral blood and lungs of CCR+/+ mice, whereas CD11c+ MHC class II+ pre-DC were 10-fold less prevalent in the peripheral blood and did not differ between the two strains. Accumulation of Ly-6Chigh monocytes correlated with a substantial increase in the numbers of CD11b+ DC in the lungs of infected CCR2+/+ mice. Comparative phenotypic analysis of lung cells recovered in vivo suggests that Ly-6Chigh monocytes differentiate into CD11b+ DC in the lung; differentiation is associated with up-regulation of costimulatory molecules and decreased Ly-6C expression. Furthermore, in vitro experiments confirmed that Ly-6Chigh monocytes differentiate into CD11b+ DC. Accumulation of Ly-6Chigh monocytes and CD11b+ DC was not attributable to their proliferation in situ. We conclude that the CCR2-mediated accumulation of CD11b+ DC in the lungs of Cryptococcus-infected mice is primarily attributable to the continuous recruitment and differentiation of Ly-6Chigh monocytes.
Role of p53 in transcriptional regulation of proteases in mammals.
Authors: Katara Rahul , Singh N 
Published: November 2009

Abstractp53, besides being a tumor suppressor protein, is a transcription factor with a powerful activation domain. Mutation(s) in this gene is a frequent event in human carcinogenesis. Several of these mutations lead to loss of its function as transcription factor. Proteases are thought to play an important role in tumor invasion and metastasis by degradation of extra cellular matrices and basement membranes. The function of protein-coding genes is carried out by the protein product, it is important to study p53-dependent expression at the protein level. There are many factors which regulate the expression of proteases in the cell, however here in this review we have focused on the p53 gene and its regulatory effect on the expression of proteases.
Congenital leukemia - A diagnostic dilemma
Authors: Prakash KP , Rau ATK , Bhat ST , Rau AR 
Published: November 2009

AbstractA 6 day old newborn presented with fever, lethargy, poor suck and mild hepatosplenomegaly, features suggestive of sepsis. Septic work up was negative. Peripheral smear revealed hyperleukocytosis, thrombocytopenia and presence of atypical cells. Bone marrow examination revealed increased myeloblasts. Other causes of leukemoid reaction were ruled out and a final diagnosis of congenital leukaemia was made.
Stress‐Dependent Elastic Properties of Porous Microcracked Ceramics
Authors: Pozdnyakova Irina , Bruno Giovanni , Efremov Alexander M. , Clausen Bjørn , Hughes Darren 
Published: November 2009

AbstractAlthough ceramics are considered linear elastic materials, we have observed a non‐linear pseudo‐elastic behavior in porous cellular microcracked ceramics such as β‐eucryptite. This is attributed to the evolution of microstructure in these materials. This behavior is particularly different from that of non‐microcracked ceramics such as silicon carbide. It is shown that in microcracked materials two processes, namely stiffening and softening, always compete when a compressive external load is applied. The first regime is attributed to microcrack closure, and the second to microcracks opening, i.e. to a damage introduced by the applied stress. On the other hand rather a continuous damage is observed in the non‐microcracked case. A comparison has been done between the microscopic (as measured by neutron diffraction) and the macroscopic stress‐strain response. Also, it has been found that at constant load a significant strain relaxation occurs, which has two timescales, possibly driven by the two phenomena quoted above. Indeed, no such relaxation is observed for non‐microcracked SiC. Implications of these findings are discussed.
Formation and Stability of Near Convoluted Structure Obtained in the Ti–46Al–8Ta Alloy Via Air Quenching and Ageing
Authors: Imayev Valery , Gaisin Ramil , Wunderlich Rainer , Valiev Ruslan , Fecht Hans‐Jörg 
Published: November 2009

AbstractMicrostructure evolution after air quenching and variable ageing treatment has been investigated in small‐sized ingot bars of the Ti–46Al–8Ta alloy. It was found that air quenching and subsequent ageing at 1200–1260 °C led to the formation of a homogeneous refined near convoluted microstructure. To increase the stability of the near convoluted structure, very slow cooling after high‐temperature ageing and final long‐term ageing at around 900 °C can be recommended.
Recent Advances in White Organic Light‐Emitting Materials and Devices (WOLEDs)
Authors: Kamtekar Kiran T. , Monkman Andrew P. , Bryce Martin R. 
Published: November 2009

AbstractWOLEDs offer new design opportunities in practical solid‐state lighting and could play a significant role in reducing global energy consumption. Obtaining white light from organic LEDs is a considerable challenge. Alongside the development of new materials with improved color stability and balanced charge transport properties, major issues involve the fabrication of large‐area devices and the development of low‐cost manufacturing technology. This Review will describe the types of materials (small molecules and polymers) that have been used to fabricate WOLEDs. A range of device architectures are presented and appraised.
Selective Hydrogenation of 5‐Ethoxymethylfurfural over Alumina‐Supported Heterogeneous Catalysts
Authors: Ras Erik‐Jan , Maisuls Sergio , Haesakkers Paul , Gruter Gert‐Jan , Rothenberg Gadi 
Published: November 2009

AbstractWe report here the synthesis and testing of a set of 48 alumina‐supported catalysts for hydrogenation of 5‐ethoxymethylfurfural. This catalytic reaction is very important in the context of converting biomass to biofuels. The catalysts are composed of one main metal (gold, copper, iridium, nickel, palladium, platinum, rhodium, ruthenium) and one promoter metal (bismuth, chromium, iron, sodium, tin, tungsten). Using a 16‐parallel trickle‐flow reactor, we tested all 48 catalyst combinations under a variety of conditions. The results show that both substrate conversion and product selectivity are sensitive towards temperature changes and solvent effects. The best results of >99% yield to the desired product, 5‐ethoxymethylfurfuryl alcohol, are obtained using an iridium/chromium (Ir/Cr) catalyst. The mechanistic implications of different possible reaction pathways in this complex hydrogenation system are discussed.
Silver Acetate/TF‐BiphamPhos‐Catalyzed endo‐Selective Enantioselective 1,3‐Dipolar Cycloaddition of Azomethine Ylides with Vinyl Phenyl Sulfone
Authors: Liang Gang , Tong Min‐Chao , Wang Chun‐Jiang 
Published: November 2009

AbstractThe first catalytic endo‐selective 1,3‐dipolar cycloaddition of azomethine ylides and vinyl phenyl sulfone has been developed successfully. The highly efficient silver acetate (AgOAc)/TF‐BiphamPhos catalytic system exhibited high reactivity, excellent diastereoselectivity (>98:2), good enantioselectivity (67–92% ee) and broad substrate scope under mild conditions.
A Spirocyclic Chiral Borate for Catalytic Enantioselective Nozaki‐Hiyama Allylation of Ketones
Authors: Huang Xin‐Ren , Chen Chinpiao , Lee Gene‐Hsian , Peng Shie‐Ming 
Published: November 2009

AbstractA new class of chiral spirocyclic borate ligands 5a–d with a rigid borocycle has been developed. The catalyst formed from chromium(II)‐5a promotes the highly efficient enantioselective Nozaki–Hiyama allylation of alkyl and aryl ketones using allyl bromide. The scope of the present method is shown to be wide, and it affords an efficient access to chiral tertiary homoallylic alcohols.
Cancer mortality among French nuclear contract workers
Authors: Guérin Sylvie , Richard Gaël , Biau Alain , Lebre Sophie , Crescini Danièle , Haddy Nadia , Guldner Laurence , Paoletti Catherine , Hill Catherine , de Vathaire Florent 
Published: November 2009

AbstractBackgroundNuclear workers from French contracting companies have received higher doses than workers from Electricité de France (EDF) or Commissariat à l'Energie Atomique (CEA).MethodsA cohort study of 9,815 workers in 11 contracting companies, monitored for exposure to ionizing radiation between 1967 and 2000 were followed up for a median duration of 12.5 years. Standardized mortality ratios (SMRs) were computed.ResultsBetween 1968 and 2002, 250 deaths occurred. Our study demonstrated a clear healthy worker effect (HWE) with mortality attaining half that expected from national mortality statistics (SMR = 0.54, 95% CI = [0.47–0.61]). The HWE was lower for all cancers (SMR = 0.65) than for non‐cancer deaths (SMR = 0.46). The analysis by cancer site showed no excess compared with the general population. Significant trends were observed according to the level of exposure to ionizing radiation for deaths from cancer, deaths from digestive cancer and deaths from respiratory cancer.ConclusionsThe mortality of nuclear workers from contracting companies is very low compared to French national mortality. Am. J. Ind. Med. 52:916–925, 2009. © 2009 Wiley‐Liss, Inc.
Absence of Lamin A/C gene mutations in four Wiedemann–Rautenstrauch syndrome patients
Authors: Morales Luis C. , Arboleda Gonzalo , Rodríguez Yeldy , Forero Diego A. , Ramírez Nelson , Yunis Juan J. , Arboleda Humberto 
Published: November 2009

AbstractThe Wiedemann–Rautenstrauch syndrome (WRS, OMIM: 264090) characterizes a premature aging syndrome in which several features of aging are apparent at birth. We did not find mutations in Lamin A/C (LMNA) gene in four WRS patients, and in particular, we did not find the G608G mutation (GGC > GGT transition) which is associated with most cases with Hutchinson–Gilford progeria (OMIM 176670). These findings suggest that WRS represents a distinct progeroid entity that may be caused by recessive mutations of a different gene. © 2009 Wiley‐Liss, Inc.
Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome
Authors: Yatsenko Svetlana A. , del Valle Torrado Maria , Fernandes Priscilla H. , Wiszniewska Joanna , Gallego Marta , Herrera Jorge , Bacino Carlos A. 
Published: November 2009

AbstractThe etiology of Noonan syndrome (NS) has been greatly elucidated with the discovery of the disease causative genes PTPN11, KRAS, SOS1, and RAF1, all involved in the RAS/MAPK‐signaling cascade. Given that overall mutations are identified in about 70% of patients, identification of other NS associated genes remains a high priority to fully understand the etiopathogenesis of the condition. We report two affected siblings with an apparently balanced rearrangement of chromosome 12 ins(12)(q12p11.2p12.3) which segregates with the Noonan phenotype. The rearrangement was inherited from the phenotypically normal mother who had mosaicism for the derivative chromosome 12. There were no mutations of PTPN11, KRAS, SOS1, or RAF1 genes detected in the probands. Using fluorescence in situ hybridization analysis we identified the three breakpoints involved at 12p12.3, 12p11.2, and 12q12. By microarray analysis, there were no gains or losses near the breakpoints. Neither, the PTPN11 or KRAS region on chromosome 12 was involved in the rearrangement. We hypothesize that other NS candidate gene(s) may be located in the breakpoint regions of chromosome 12 causing the Noonan phenotype in both of these children. © 2009 Wiley‐Liss, Inc.
Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor
Authors: Lafay‐Cousin Lucie , Payne Eric , Strother Douglas , Chernos Judy , Chan Michael , Bernier Francois P. 
Published: November 2009

AbstractChromosome‐specific low copy repeats (LCRs) are implicated in several clinically significant microdeletion and microduplication syndromes. The well‐recognized phenotype of DiGeorge/velocardiofacial syndrome (DG/VCF) results from deletions of the long arm of chromosome 22 (22q11.2) mediated by the proximal LCRs in this region. More recent evidence suggests that the distal LCRs within 22q11.2 are also implicated in microdeletions and microduplications with less characterized phenotypes. Here we report on an infant diagnosed with Goldenhar syndrome (GS) phenotype who developed an atypical teratoid rhabdoid tumor (AT/RT) of the brain due to a distal deletion of the chromosome 22q11.2 region encompassing theINI1/SMARCB1tumor suppressor. We also discuss the phenotype of patients with germline deletions of this region and the possible implication of the 22q11.2 region in the GS. © 2009 Wiley‐Liss, Inc.
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot
Authors: Ester Audrey R. , Weymouth Katelyn S. , Burt Amber , Wise Carol A. , Scott Allison , Gurnett Christina A. , Dobbs Matthew B. , Blanton Susan H. , Hecht Jacqueline T. 
Published: November 2009

AbstractClubfoot is a common birth defect that affects 135,000 newborns each year worldwide. It is characterized by equinus deformity of one or both feet and hypoplastic calf muscles. Despite numerous study approaches, the cause(s) remains poorly understood although a multifactorial etiology is generally accepted. We considered the HOXA and HOXD gene clusters and insulin‐like growth factor binding protein 3 (IGFBP3) as candidate genes because of their important roles in limb and muscle morphogenesis. Twenty SNPs from the HOXA and HOXD gene clusters and 12 SNPs in IGFBP3 were genotyped in a sample composed of non‐Hispanic white and Hispanic multiplex and simplex families (discovery samples) and a second sample of non‐Hispanic white simplex trios (validation sample). Four SNPs (rs6668, rs2428431, rs3801776, and rs3779456) in the HOXA cluster demonstrated altered transmission in the discovery sample, but only rs3801776, located in the HOXA basal promoter region, showed altered transmission in both the discovery and validation samples (P = 0.004 and 0.028). Interestingly, HOXA9 is expressed in muscle during development. An SNP in IGFBP3, rs13223993, also showed altered transmission (P = 0.003) in the discovery sample. Gene–gene interactions were identified between variants in HOXA, HOXD, and IGFBP3 and with previously associated SNPs in mitochondrial‐mediated apoptotic genes. The most significant interactions were found between CASP3 SNPS and variants in HOXA, HOXD, and IGFBP3. These results suggest a biologic model for clubfoot in which perturbation of HOX and apoptotic genes together affect muscle and limb development, which may cause the downstream failure of limb rotation into a plantar grade position. © 2009 Wiley‐Liss, Inc.
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: A new syndrome?
Authors: Ferrarini Alessandra , Osterheld Maria‐Chiara , Vial Yvan , de Viragh Pierre A. , Cotting Jacques , Martinet Danielle , Beckmann Jacques S. , Fellmann Florence 
Published: November 2009

AbstractWe report on two familial cases from a non‐consanguineous marriage, presenting multiple intestinal and choanal atresia. Massive hydramnios and dilatation of the bowel were observed at 29 weeks of gestation during routine ultrasound scan of a healthy mother. The fetal karyotype was normal and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy. The child was born at 34 weeks gestation. Choanal atresia was diagnosed at birth and abdominal investigations showed multiple atresia interesting both the small bowel and the colon. Further interventions were necessary because of recurrent obstructions. During the following pregnancy, a dilatation of the fetal intestinal tract was detected by ultrasonography at 27 weeks of gestation. Pregnancy was interrupted. Post‐mortem examination of the fetus confirmed the stenosis of long segments of the small intestine associated with areas of colonic atresia. In both cases, histology and distribution were consistent with those reported in hereditary multiple intestinal atresia (HMIA). An association between multiple intestinal and choanal atresia has never been reported. We suggest it could correspond to a new autosomal recessive entity for which cytogenetic investigations and high‐resolution array CGH revealed no visible anomalies. © 2009 Wiley‐Liss, Inc.
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III
Authors: Zarghooni Maryam , Dittakavi Sarma S.R. 
Published: November 2009

AbstractMucolipidosis II and III are autosomal recessive disorders due to mutations in the GNPTAB and GNPTG genes encoding the αβ‐ and γ‐subunits of the GlcNAc‐1‐phosphotransferase, respectively. This protein has a subunit structure of α2β2γ2 and initiates the first step of tagging lysosomal enzymes with mannose‐6‐phosphate (M6P). In the present study, we screened four MLII and three MLIII cell lines for mutations in GNPTAB and GNPTG. Nine novel mutations in GNPTAB and two previously reported mutations in GNPTAB and GNPTG were identified. By using anti‐peptide antibodies against the α‐ and β‐subunits, we show that mutations in the γ‐subunit affected the assembly and intracellular distribution of the α‐ and β‐subunits. Furthermore, the biochemical phenotypes of MLII and MLIII fibroblasts can be corrected by transfection with wild‐type cDNA expression constructs encoding the α/β‐ and γ‐subunits of GlcNAc‐1‐phosphotransferase, respectively. © 2009 Wiley‐Liss, Inc.
Linkage analyses of cannabis dependence, craving, and withdrawal in the San Francisco family study
Authors: Ehlers Cindy L. , Gizer Ian R. , Vieten Cassandra , Wilhelmsen Kirk C. 
Published: November 2009

AbstractCannabis is the most widely used illicit drug in the United States. There is ample evidence that cannabis use has a heritable component, yet the genes underlying cannabis use disorders are yet to be completely identified. This study's aims were to map susceptibility loci for cannabis use and dependence and two narrower cannabis‐related phenotypes of “craving” and “withdrawal” using a family study design. Participants were 2,524 adults participating in the University of California San Francisco (UCSF) Family Alcoholism Study. DSM‐IV diagnoses of cannabis dependence, as well as indices of cannabis craving and withdrawal, were obtained using a modified version of the Semi‐Structured Assessment for the Genetics of Alcoholism (SSAGA). Genotypes were determined for a panel of 791 microsatellite polymorphisms. Multipoint variance component LOD scores were obtained using SOLAR. Genome‐wide significance for linkage (LOD > 3.0) was not found for the DSM‐IV cannabis dependence diagnosis; however, linkage analyses of cannabis “craving” and the cannabis withdrawal symptom of “nervous, tense, restless, or irritable” revealed five sites with LOD scores over 3.0 on chromosomes 1, 3, 6, 7, and 9. These results identify new regions of the genome associated with cannabis use phenotypes as well as corroborate the importance of several chromosome regions highlighted in previous linkage analyses for other substance dependence phenotypes. © 2009 Wiley‐Liss, Inc.
The Renaissance of α‐Methylene‐γ‐butyrolactones: New Synthetic Approaches
Authors: Kitson Russell R. A. , Millemaggi Alessia , Taylor Richard J. K. 
Published: November 2009

AbstractThe amount of research activity concerning α‐methylene‐γ‐butyrolactones and α‐alkylidene‐γ‐butyrolactones has increased dramatically in recent years. This Review summarizes the structural types, biological activities, and biosynthesis of these compounds, concentrating on publications from the past 10 years. Traditional approaches to α‐methylene‐γ‐butyrolactones and α‐alkylidene‐γ‐butyrolactones are then reviewed together with novel approaches, including those from our own research group, reported more recently.
Human Sperm Anatomy: Ultrastructural Localization of the Cannabinoid1 Receptor and a Potential Role of Anandamide in Sperm Survival and Acrosome Reaction
Authors: Aquila Saveria , Guido Carmela , Santoro Antonietta , Perrotta Ida , Laezza Chiara , Bifulco Maurizio , Sebastiano Andò 
Published: November 2009

AbstractRecently, the endocannabinoid (EC) system and the presence of CB1 receptor (CB1‐R), have been identified in human sperm. However, the effects of EC receptor ligands such as anandamide (N‐arachidonoylethanolamine) and the role of EC system in male fertility is still largely unexplored. In the present study, we investigated the ultrastructural compartmentalization of CB1‐R and analyzed the effects of its stimulation by using a stable analog of anandamide, 2‐methylarachidonyl‐2′‐fluoro‐ethylamide (MET‐F‐AEA). We focused particularly on sperm survival and acrosin activity. The study of human sperm anatomy by transmission electron microscopy with immunogold analysis revealed the location of the CB1‐R prevalently in the sperm membranes of the head and interestingly on the mitochondria. The effect of different concentrations of MET‐F‐AEA from 100 nM to 1 μM evidenced a significant decrease of sperm survival. Interestingly, we analyzed this negative effect at molecular level, testing the EC action on different known sperm survival targets. MET‐F‐AEA‐treatment decreased both pBCL2 and pAkt, two prosurvival proteins, and increased pPTEN expression which is the main regulator of the PI3K/Akt pathway. Moreover, a biphasic effect was observed with increasing MET‐F‐AEA concentrations on the acrosin activity. The blockage of the CB1‐R by using its selective antagonist SR141716 (rimonabant) induced an opposite action on sperm survival supporting a role for this receptor in the biology of the male gamete. Anat Rec, 2010. © 2009 Wiley‐Liss, Inc.
A Sensitivity Analysis for Shared‐Parameter Models for Incomplete Longitudinal Outcomes
Authors: Creemers An , Hens Niel , Aerts Marc , Molenberghs Geert , Verbeke Geert , Kenward Michael G. 
Published: November 2009

AbstractAll models for incomplete data either explicitly make assumptions about aspects of the distribution of the unobserved outcomes, given the observed ones, or at least implicitly imply such. One consequence is that there routinely exist a whole class of models, coinciding in their description of the observed portion of the data but differing with respect to their “predictions” of what is unobserved. Within such a class, there always is a single model corresponding to so‐called random missingness, in the sense that the mechanism governing missingness depends on covariates and observed outcomes, but given these not further on unobserved outcomes. We employ these results in the context of so‐called shared‐parameter models where outcome and missingness models are connected by means of common latent variables or random effects, to devise a sensitivity analysis framework. Precisely, the impact of varying unverifiable assumptions about unobserved measurements on parameters of interest is studied. Apart from analytic considerations, the proposed methodology is applied to assess treatment effect in data from a clinical trial in toenail dermatophyte onychomycosis. While our focus is on longitudinal outcomes with incomplete outcome data, the ideas developed in this paper are of use whenever a shared‐parameter model could be considered.