bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
Authors: Tekin Mustafa , Cengiz Filiz Başak , Ayberkin Eda , Kendirli Tanıl , Fitoz Suat , Tutar Ercan , Çiftçi Ergin , Conba Atakan 
Published: March 2007

AbstractWe present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficiency, and pulmonary emphysema. All three siblings died due to cardiorespiratory insufficiency by 2–4 months of age. Screening of the FBN1 gene showed the heterozygous c.3257G > A (p.Cys1086Tyr) mutation in the proband. Mosaicism of the mutation was demonstrated in the somatic cells and in the germ line of the father. Although three examples of parental mosaicism for classical MFS were demonstrated previously, this is the first report of familial occurrence of neonatal MFS due to a heterozygous mutation in FBN1. In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS. Parental mosaicism should always be kept in mind when counseling families with MFS. © 2007 Wiley‐Liss, Inc.
Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation
Authors: Kauwe John S. K. , Jacquart Sarah , Chakraverty Sumi , Wang Jun , Mayo Kevin , Fagan Anne M. , Holtzman David M. , Morris John C. , Goate Alison M. 
Published: March 2007

AbstractObjectiveAggregation and deposition of amyloid beta (Aβ) in the brain is thought to be central to the pathogenesis of Alzheimer's disease (AD). Recent studies suggest that cerebrospinal fluid (CSF) Aβ levels are strongly correlated with AD status and progression, and may be a meaningful endophenotype for AD. Mutations in presenilin 1 (PSEN1) are known to cause AD and change Aβ levels. In this study, we have investigated DNA sequence variation in the presenilin (PSEN1) gene using CSF Aβ levels as an endophenotype for AD.MethodsWe sequenced the exons and flanking intronic regions of PSEN1 in clinically characterized research subjects with extreme values of CSF Aβ levels.ResultsThis novel approach led directly to the identification of a disease‐causing mutation in a family with late‐onset AD.InterpretationThis finding suggests that CSF Aβ may be a useful endophenotype for genetic studies of AD. Our results also suggest that PSEN1 mutations can cause AD with a large range in age of onset, spanning both early‐ and late‐onset AD. Ann Neurol 2007;61:446–453
Inclusion body myositis with human immunodeficiency virus infection: Four cases with clonal expansion of viral‐specific T cells
Authors: Dalakas Marinos C. , Rakocevic Goran , Shatunov Alexey , Goldfarb Lev , Raju Raghavan , Salajegheh Mohammad 
Published: March 2007

AbstractObjectiveSporadic inclusion body myositis (sIBM), a common adult‐onset myositis, is characterized by an antigen‐driven inflammatory response and vacuolar degeneration. The cause is unknown. We report the association of sIBM with human immunodeficiency virus (HIV) infection and explore the clonality and viral specificity of the autoinvasive T cells.MethodsClinicopathological studies in four HIV‐infected patients with IBM were performed. The clonal restriction of endomysial T cells, compared with peripheral blood, was examined by spectratyping. Immunohistochemical studies using human leukocyte antigen‐A* 0201‐gag tetramers and the most dominant Vb families were performed in serial muscle biopsy sections to examine whether clonally expanded autoinvasive T cells are viral specific and invade muscle fibers expressing the allele‐specific monomorphic major histocompatibility complex class I antigen.ResultsProminent clonal restriction of certain Vb families was noted among the endomysial T cells with evidence of in situ expansion. Approximately 10% of the autoinvasive CD8+ cells were human leukocyte antigen‐A* 0201‐HIV‐gag specific and invaded muscle fibers expressing the specific human leukocyte antigen‐A* 0201 allele. These cells belonged to restricted Vb families. The HIV gag antigen was present on several endomysial macrophages but not within the muscle fibers.InterpretationsIBM develops in patients who harbor HIV. In HIV‐IBM, a subset of CD8+ T cells surrounding muscle fibers are viral specific and may play a role in the disease mechanism by cross‐reacting with antigens on the surface of muscle fibers. This study provides a paradigm that a chronic viral infection in genetically susceptible individuals can trigger viral specific T cell clones that persist within the muscle and lead to development of sIBM. Ann Neurol 2007
A new CuAl–hydrotalcite catalyzed homocoupling reaction of terminal alkynes at room temperature
Authors: Zhu Bing Chun , Jiang Xuan Zhen 
Published: March 2007

AbstractCuAl–LDH has been prepared and applied, for the first time, in the homocoupling reaction of a variety of terminal alkynes at room temperature. The Cu (II) in the host layers of the hydrotalcite exhibits high activity and the catalyst can be easily recovered and reused for eight cycles without depreciation of catalytic activity. Copyright © 2007 John Wiley & Sons, Ltd.
Morphology and nonisothermal crystallization behavior of PP/Novolac blends
Authors: Cui Limei , Wang Shifeng , Zhang Yong , Zhang Yinxi 
Published: March 2007

AbstractThe morphology and nonisothermal crystallization behavior of PP/Novolac blends were studied with scanning electron microscopy, differential scanning calorimeter, polarized optical microscopy (POM), and wide‐angle X‐ray diffraction (WAXD). The results showed that the crystallization of PP in PP/Novolac blends was strongly influenced by cooling rate, size of Novolac particles, crosslinking, and compatibilizer maleic anhydride‐grafted PP (MPP). In dynamically cured PP/MPP/Novolac blends, the MPP grafted on the surface of cured Novolac particles and formed a chemical linkage through the reaction of anhydride groups with the hexamethylenetetramine. The graft copolymer not only improved interfacial compatibility but also acted as an effective heterogeneous nucleating agent, which accelerates the crystallization of PP. The combination of Avrami and Ozawa equations exhibited great advantages in treating the nonisothermal crystallization kinetics in dynamically cured PP/MPP/Novolac blends. The POM results showed that the spherulite morphology and the size of PP in PP/MPP/Novolac blends were greatly affected by Novolac. WAXD experiment demonstrates that the PP and dynamically cured PP/MPP/Novolac blends showed only the α crystal form. At the same time, the addition of Novolac resin also affects the crystal size of PP. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci 2007
Identification of trf2 mutants of Drosophila with defects in anterior spiracle eversion
Authors: Shima Seigo , Aigaki Toshiro , Nojima Tetsuya , Yamamoto Daisuke 
Published: March 2007

AbstractTATA‐box‐binding protein (TBP)‐related factor (Trf)2 is a member of the family of TBP‐related factors present in metazoan organisms. In Drosophila, Trf2 immunoprecipitates with the nucleosome remodeling factor (NURF) chromatin remodeling complex and the DNA replication element (DRE)‐binding factor DREF. When it forms a complex with DREF, Trf2 activates transcription from the DRE‐binding sites of the proliferating cell nuclear antigen (PCNA) gene. Despite these observations at the molecular level, no mutations in the trf2 locus have been found in Drosophila. Here, we identify two P‐element insertion alleles, PL28 and GS7403, as hypomorphic mutants with a decreased expression level of trf2. Pupae of these mutant alleles show failure in anterior spiracle eversion, a hallmark of mutations in the loci associated with ecdysteroid signaling. Arch. Insect Biochem. Physiol. 64:157–163, 2007. © 2007 Wiley‐Liss, Inc.
Identification and expression analysis of an actin gene from the soft tick, Ornithodoros moubata (Acari: Argasidae)
Authors: Horigane Mari , Ogihara Kazumasa , Nakajima Yoshiro , Honda Hiroshi , Taylor DeMar 
Published: March 2007

AbstractActin genes are found in all living organisms and highly conserved in various animals as shown by numerous studies on actin gene expression and function. Because of this ubiquitous nature of actin, it is often used as an internal control in gene expression studies. To clarify the suitability of actin gene as an internal control in soft ticks, isolation and expression analyses of an actin gene from Ornithodoros moubata was performed. An actin gene of Ornithodoros moubata (OmAct2, GenBank accession no. AB208021) with 1,131 bp and 376 amino acid residues was identified. The homology of OmAct2 with other arthropod actin genes was greater than 80% in nucleotides and 99% in amino acids. OmAct2 gene was classified as a cytoskeletal actin type by absence of muscle‐specific amino acids commonly found in insects and ubiquitous expression in all stages and both sexes. Southern blot revealed that O. moubata has four to seven actin genes. In addition, actin expression analyzed by real‐time PCR before and after blood feeding was not significantly different indicating OmAct2 is an appropriate internal control for the analysis of gene expression in these ticks. Arch. Insect Biochem. Physiol. 64:186–199, 2007. © 2007 Wiley‐Liss, Inc.
Identification of a putative azadirachtin‐binding complex from Drosophila Kc167 cells
Authors: Robertson Susan L. , Ni Weiting , Dhadialla Tarlochan S. , Nisbet Alasdair J. , McCusker Catherine , Ley Steven V. , Mordue William , Mordue (Luntz) A. Jennifer 
Published: March 2007

AbstractCell‐proliferation in Drosophila Kc167 cells was inhibited by 50% when cell cultures contained 1.7 × 10–7 M azadirachtin for 48 h (a tertranortriterpenoid from the neem tree Azadirachta indica). Drosophila Kc167 cells exhibited direct nuclear damage within 6‐h exposure to azadirachtin (5 × 10–7 M and above) or within 24 h when lower concentrations were used (1 × 10–9 M). Fractionation of an extract of Drosophila Kc167 cells combined with ligand overlay technique resulted in the identification of a putative azadirachtin binding complex. Identification of the members of this complex by Peptide Mass Fingerprinting (PMF) and N‐terminal sequencing identified heat shock protein 60 (hsp60) as one of its components. Arch. Insect Biochem. Physiol. 64:200–208, 2007. © 2007 Wiley‐Liss, Inc.
Stylistic text classification using functional lexical features
Authors: Argamon Shlomo , Whitelaw Casey , Chase Paul , Hota Sobhan Raj , Garg Navendu , Levitan Shlomo 
Published: March 2007

AbstractMost text analysis and retrieval work to date has focused on the topic of a text; that is, what it is about. However, a text also contains much useful information in its style, or how it is written. This includes information about its author, its purpose, feelings it is meant to evoke, and more. This article develops a new type of lexical feature for use in stylistic text classification, based on taxonomies of various semantic functions of certain choice words or phrases. We demonstrate the usefulness of such features for the stylistic text classification tasks of determining author identity and nationality, the gender of literary characters, a text's sentiment (positive/negative evaluation), and the rhetorical character of scientific journal articles. We further show how the use of functional features aids in gaining insight about stylistic differences among different kinds of texts.
Tetrahydrofuran Activates Fluorescence Resonant Energy Transfer from a Cationic Conjugated Polyelectrolyte to Fluorescein‐Labeled DNA in Aqueous Media
Authors: Liu Bin , Bazan Guillermo C. 
Published: March 2007

AbstractA cationic water‐soluble conjugated polyelectrolyte, poly[9,9‐bis(6′′‐(N,N,N‐trimethylammonium)hexyl)fluorene‐co‐alt‐2,5‐bis(6′‐(N,N,N‐trimethylammonium)hexyloxyphenylene) tetrabromide], was synthesized. Fluorescence resonant energy transfer (FRET) experiments between the polymer and fluorescein‐labeled single‐stranded DNA (ssDNA‐Fl) were conducted in aqueous buffer and THF/buffer mixtures. Weak fluorescence emission in aqueous buffer was observed upon excitation of the polymer, whereas addition of THF turned on the fluorescence. Fluorescence self‐quenching of ssDNA‐Fl in the ssDNA‐Fl/polymer complexes as well as electron transfer from the polymer to fluorescein may account for the low fluorescence emission in buffer. The improved sensitization of fluorescence by the polymer observed in THF/buffer could be attributed to the weaker binding between the polymer and ssDNA‐Fl and a decrease in dielectric constant of the solvent mixture, which disfavors electron transfer. THF‐assisted signal sensitization was also observed for the polymer and fluorescein‐labeled double‐stranded DNA (dsDNA‐Fl). These results indicate that the use of cosolvent provides a strategy to improve the detection sensitivity for biosensors based on the optical amplification provided by conjugated polymers.
Variable‐Temperature Powder X‐ray Diffraction of Aromatic Carboxylic Acid and Carboxamide Cocrystals
Authors: Reddy L. Sreenivas , Bhatt Prashant M. , Banerjee Rahul , Nangia Ashwini , Kruger Gert J. 
Published: March 2007

AbstractThe effect of temperature on the cocrystallization of benzoic acid (BA), pentafluorobenzoic acid (FBA), benzamide (BAm), and pentafluorobenzamide (FBAm) is examined in the solid state. BA and FBA formed a 1:1 complex 1 at ambient temperature by grinding with a mortar and pestle. Grinding FBA and BAm together resulted in partial conversion into the 1:1 adduct 2 at 28 °C and complete transformation into the product cocrystal at 78 °C. Further heating (80–100 °C) and then cooling to room temperature gave a different powder pattern from that of 2. BAm and FBAm hardly reacted at ambient temperature, but they afforded the 1:1 cocrystal 3 by melt cocrystallization at 110–115 °C. Both BA+FBAm (4) and BA+BAm (5) reacted to give new crystalline phases upon heating, but the structures of these products could not be determined owing to a lack of diffraction‐quality single crystals. The stronger COOH and CONH2 hydrogen‐bonding groups of FBA and FBAm yielded the equimolar cocrystal 6 at room temperature, and heating of these solids to 90–100 °C gave a new crystalline phase. The X‐ray crystal structures of 1, 2, 3, and 6 are sustained by the acid–acid/amide–amide homosynthons or acid–amide heterosynthon, with additional stabilization from phenyl–perfluorophenyl stacking in 1 and 3. The temperature required for complete transformation into the cocrystal was monitored by in situ variable‐temperature powder X‐ray diffraction (VT‐PXRD), and formation of the cocrystal was confirmed by matching the experimental peak profile with the simulated diffraction pattern. The reactivity of H‐bonding groups and the temperature for cocrystallization are in good agreement with the donor and acceptor strengths of the COOH and CONH2 groups. It was necessary to determine the exact temperature range for quantitative cocrystallization in each case because excessive heating caused undesirable phase transitions.
Unusual Rate Acceleration in Brønsted Acid Catalyzed Dehydration Reactions: Local Hydrophobic Environment in Aggregated N‐(2,6‐diphenylphenyl)‐N‐mesitylammonium Pentafluorobenzenesulfonates
Authors: Sakakura Akira , Watanabe Hitoshi , Nakagawa Shoko , Ishihara Kazuaki 
Published: March 2007

AbstractBulky diarylammonium pentafluorobenzenesulfonates effectively promote dehydration reactions, such as condensation reactions to give esters and the dehydrative cyclization of 1,3,5‐triketones. In particular, N‐(2,6‐diphenylphenyl)‐N‐mesitylammonium pentafluorobenzenesulfonate shows much higher catalytic activity than C6F5SO3H under reaction conditions without the removal of generated water, even though the former is a weaker acid. Its crystallization gives an aggregated cyclic ion pair, which is composed of two diarylammonium cations, four pentafluorobenzenesulfonate anions, and two oxonium cations. This ion pair is strongly stabilized by four intermolecular and two intramolecular π–π attractive interactions and 10 hydrogen bonds. The extremely high catalytic activity of N‐(2,6‐diphenylphenyl)‐N‐mesitylammonium pentafluorobenzenesulfonate in the dehydration reactions may be ascribed to the local hydrophobic environment of the tightly aggregated ammonium salts.
“Chiral Amnesia” as a Driving Force for Solid‐Phase Homochirality
Authors: Blackmond Donna G. 
Published: March 2007

AbstractThe formation of a single homochiral solid phase from crystallization of achiral compounds has recently been under discussion. We show that the state of single solid‐phase homochirality does not represent a more stable thermodynamic state than that of a racemate consisting of two separate homochiral solids. We introduce the term “chiral amnesia” as a more appropriate molecular‐level description than “chiral recognition” to describe the driving force for establishing solid‐phase homochirality in the case of achiral molecules that form chiral solids as well as in the case of rapidly racemizing enantiomers.
Aminoborylene Complexes of Group 6 Elements and Iron: A Synthetic, Structural, and Quantum Chemical Study
Authors: Blank Benoît , Colling‐Hendelkens Miriam , Kollann Carsten , Radacki Krzysztof , Rais Daniela , Uttinger Katharina , Whittell George R. , Braunschweig Holger 
Published: March 2007

AbstractTransition‐metal–borylene complexes of the type [(OC)5MBR] {M=Cr, Mo, W; R=N(SiMe3)2, 1 a–3 a, Si(SiMe3)3, 4 a} and [(OC)4FeBN(SiMe3)2] (8) were prepared by salt elimination reactions. Synthesis of the latter complex was accompanied by the formation of substantial amounts of an unusual dinuclear iron complex [Fe2{μ‐C2O2(BN(SiMe3)2)}2(CO)6] (9). The aminoborylene complexes of Group 6 metals were converted to trans‐[(Cy3P)(CO)4MBN(SiMe3)2] (5 a–7 a) by irradiation in the presence of PCy3. Structural and spectroscopic parameters were discussed with respect to the trans‐effect of the borylene ligand and the degree of MB dπ–pπ‐backbonding. Computational studies were performed on Group 6–borylene complexes. The population and topological analyses as well as the molecular orbital composition are consistent with the presence of both σ‐and π‐type interactions. There are, however, indications that the dπ–pπ‐backbonding in the silylborylene complex is significantly more pronounced than in the aminoborylene complexes.
An Abnormal Resonance Light Scattering Arising from Ionic‐Liquid/DNA/Ethidium Interactions
Authors: Cheng De‐Hong , Chen Xu‐Wei , Wang Jian‐Hua , Fang Zhao‐Lun 
Published: March 2007

AbstractIn the aqueous phase, ethidium bromide (EB) intercalates into the double helix structure of dsDNA (ds=double‐stranded) with a notable enhancement in fluorescence and resonance light scattering (RLS). However, when dsDNA was extracted into an ionic liquid (IL), 1‐butyl‐3‐methylimidazolium hexafluorophosphate (BmimPF6), an abnormal RLS arising from the interactions of IL–DNA–EB was observed, with a substantial decrease of the recorded RLS. The cationic Bmim+ groups of BmimPF6 intercalate into the DNA helix structure, in which they interact with the PO bonds of phosphate groups in DNA strands and result in a reduction of the base‐pair interstice along with transformation of DNA conformations that consequently prohibits the intercalation of EB with DNA. Thus, in the IL phase, the interactions between ethidium and DNA were dominated by electrostatic interactions and hydrogen bonding, leading to a congregation of EB entities around the DNA strands that results in an increase of absorption by ethidium, and consequently the inner filter effect leads to a reduction of the RLS. The present observation has been applied to the direct quantification of DNA in an ionic‐liquid phase after DNA from human whole blood was extracted into BmimPF6.
Redox‐Driven Intramolecular Anion Translocation between a Metal Centre and a Hydrogen‐Bond‐Donating Compartment
Authors: Amendola Valeria , Colasson Benoît , Fabbrizzi Luigi , Rodriguez Douton Maria‐Jesús 
Published: March 2007

AbstractDicationic ligands incorporating two 2,2′‐bipyridine units and two imidazolium moieties, [1]2+ and [2]2+, form stable chelate complexes with CuII and CuI in acetonitrile solution. Each CuII complex binds two X− ions according to two stepwise equilibria, the first involving the CuII centre and the second involving the bis‐imidazolium compartment. CuI complexes are able to host only one NO3− ion in the bis‐imidazolium cavity, while other anions induce demetallation. Thus, in the presence of one equivalent of NO3−, the CuII/CuI redox change makes the anion translocate quickly and reversibly from one binding site to the other within the [CuII,I(1)]4+/3+ system, as demonstrated by cyclic voltammetry and controlled‐potential electrolysis experiments.
Diastereoselective Synthesis of 1,3‐Disubstituted 1,2,3,4‐Tetrahydro‐β‐carbolines Using Pictet‐Spengler Reaction in Non‐acidic Aprotic Media.
Authors: Sharma S. D. , Bhaduri Susmita , Kaur Gurpreet 
Published: March 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract, please click on HTML or PDF.
Adenosine triphosphate‐based chemotherapy response assay (ATP‐CRA)‐guided platinum‐based 2‐drug chemotherapy for unresectable nonsmall‐cell lung cancer
Authors: Moon Yong Wha , Choi Sung Ho , Kim Yong Tai , Sohn Joo Hyuk , Chang Joon , Kim Se Kyu , Park Moo Suk , Chung Kyung Young , Lee Hyoun Ju , Kim Joo‐Hang 
Published: March 2007

AbstractBACKGROUND.The study investigated correlations between adenosine triphosphate / chemotherapy response assay (ATP‐CRA) and clinical outcomes after ATP‐CRA‐guided platinum‐based chemotherapy for unresectable nonsmall‐cell lung cancer (NSCLC).METHODS.The authors performed an in vitro chemosensitivity test, ATP‐CRA, to evaluate the chemosensitivities of anticancer drugs such as cisplatin, carboplatin, paclitaxel, docetaxel, gemcitabine, and vinorelbine for chemonaive, unresectable NSCLC. The cell death rate was determined by measuring the intracellular ATP levels of drug‐exposed cells compared with untreated controls. A sensitive drug was defined as a drug producing 30% or more reduction in ATP compared with untreated controls. Assay‐guided platinum‐based 2‐drug chemotherapy was given to patients with pathologically confirmed NSCLC.RESULTS.Thirty‐four patients were enrolled. Thirty tumor specimens were obtained by bronchoscopic biopsies and 4 obtained surgically. The median age was 61 years and 27 patients had an Eastern Cooperative Oncology Group (ECOG) performance status of 0–1. The response rate was 43.8%. At a median follow‐up period of 16.9 months, the median progression‐free and overall survivals were 3.6 and 11.2 months, respectively. Patients were dichotomized into the platinum‐sensitive (S; 20 patients) and resistant (R; 14 patients) groups. The positive/negative predictive values were 61.1% and 78.6% with a predictive accuracy of 68.8%. Although without significant differences in pretreatment parameters, the S‐group showed better clinical response (P = .036), longer progression‐free survival (P = .060), and longer overall survival (P = .025).CONCLUSIONS.Despite using bronchoscopic biopsied specimens, ATP‐CRA and clinical outcomes correlated well after assay‐guided platinum‐based 2‐drug chemotherapy for unresectable NSCLC. There was a favorable response and survival in the platinum‐sensitive vs resistant groups. Cancer 2007. © 2007 American Cancer Society.
Acute binocular blindness
Authors: Chamberlain Marc C. , Chalmers Lisa 
Published: March 2007

AbstractBACKGROUND.Acute binocular blindness is an uncommon cause for neurologic consultation.METHODS.Over the last 20 months 10 patients with acute onset blindness were seen at a tertiary cancer center. Probable cause was identified in all patients.RESULTS.Treatment varied and was determined by etiology of visual loss.CONCLUSIONS.Six patients made a complete or near complete recovery. Cancer 2007. © 2007 American Cancer Society.