bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unstable transmission of a familial complex chromosome rearrangement
Authors: van Binsbergen Ellen , Hochstenbach Ron , Giltay Jacques , Swinkels Marielle 
Published: September 2012

AbstractComplex chromosome rearrangements (CCRs) are rare genomic structural aberrations involving three or more breakpoints on two or more chromosomes. About one‐third of all CCRs are familial. Transmittance of such a CCR results either in genomic imbalance due to abnormal segregation at meiosis I or is stably passed on to the next generation. Here we present a phenotypically normal mother with a CCR involving chromosomes 1, 3, and 5 that gave birth to a phenotypically abnormal son. The boy presented with hypotonia, mild facial dysmorphisms, and severe intellectual disability. Conventional karyotyping revealed the same apparently balanced CCR as in the mother. However, by use of array‐comparative genome hybridization (array‐CGH) and fluorescence in situ hybridization (FISH) we discovered that one of the derivative chromosomes in the patient contained a de novo rearrangement. It appears that during transmission of the CCR, an additional de novo deletion and duplication had arisen in one of the derivative chromosomes. We speculate that this was the result of the inverted duplication with a distal deletion mechanism. We also demonstrate the importance of high‐resolution breakpoint analysis in CCRs and stress that genetic counseling of a familial CCR is not straightforward. To our knowledge, this would be the first description of this mechanism operating on a structurally abnormal chromosome. © 2012 Wiley Periodicals, Inc.
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
Authors: Dalal Ashwin , Bhavani G Sri Lakshmi , Togarrati Padma Priya , Bierhals Tatjana , Nandineni Madhusudan R. , Danda Sumita , Danda Debashish , Shah Hitesh , Vijayan Sandeep , Gowrishankar Kalpana , Phadke Shubha R , Bidchol Abdul Mueed , Rao Anand Prahalad , Nampoothiri Sheela , Kutsche Kerstin , Girisha K.M. 
Published: September 2012

AbstractProgressive pseudorheumatoid dysplasia (PPD) is a progressive skeletal syndrome characterized by stiffness, swelling and pain in multiple joints with associated osteoporosis in affected patients. Radiographically, the predominant features resemble a spondyloepiphyseal dysplasia. Mutations in the WISP3 gene are known to cause this autosomal recessive condition. To date, only a limited number of studies have looked into the spectrum of mutations causing PPD. We report on clinical features and WISP3 mutations in a large series of Indian patients with this rare skeletal dysplasia. Families with at least one member showing clinical and radiologic features of PPD were recruited for the study. Symptoms, signs and radiographic findings were documented in 35 patients from 25 unrelated families. Swelling of small joints of hands and contractures are the most common presenting features. Mutation analysis was carried out by bidirectional sequencing of the WISP3 gene in all 35 patients. We summarize the clinical features of 35 patients with PPD and report on 11 different homozygous mutations and one instance of compound heterozygosity. Eight (c.233G>A, c.340T>C, c.348C>A, c.433T>C, c.682T>C, c.802T>G, c.947_951delAATTT, and c.1010G>A) are novel mutations and three (c.156C>A, c.248G>A, and c.739_740delTG) have been reported previously. One missense mutation (c.1010G>A; p.Cys337Tyr) appears to be the most common in our population being seen in 10 unrelated families. This is the largest cohort of patients with PPD in the literature and the first report from India on mutation analysis of WISP3. We also review all the mutations reported in WISP3 till date. © 2012 Wiley Periodicals, Inc.
Spectrofluorimetric method for the determination of sulpiride in pharmaceutical preparations and human plasma through derivatization with 2‐cyanoacetamide
Authors: Shah Jasmin , Jan M. Rasul , Khan M. Naeem , Shah Sultan 
Published: September 2012

ABSTRACTA sensitive and accurate spectrofluorimetric method has been developed for the determination of sulpiride in pharmaceutical preparations and human plasma. The developed method is based on the derivatization reaction of 2‐cyanoacetamide with sulpiride in 30% ammonical solution. The fluorescent derivatized reaction product exhibited maximum fluorescence intensity at 379 nm after excitation at 330 nm. The optimum conditions for derivatization reactions were studied and the fluorescence intensity versus concentration plot was found to be linear over the concentration range 0.2–20.0 µg/mL with a correlation coefficient of 0.9985. The limit of detection (LOD) and limit of quantification (LOQ) were found to be 0.82 and 2.73 ng/mL, respectively. The proposed method was validated according to ICH guidelines. The effects of common excipients and co‐administered drugs were also studied. The accuracy of the method was checked using the standard addition method and percent recoveries were found to be in the range of 99.00–101.25% for pharmaceutical preparations and 97.00–97.80% for spiked human plasma. The method was successfully applied to commercial formulations and the results obtained for the proposed method were compared with a high‐performance liquid chromatography reference method and statistically evaluated using the Student's t‐test for accuracy and the variance ratio F‐test for precision. A reaction pathway was also proposed. Copyright © 2012 John Wiley & Sons, Ltd.
ATP and ADP actin states
Authors: Kudryashov Dmitri S. , Reisler Emil 
Published: September 2012

AbstractThis minireview is dedicated to the memory of Henryk Eisenberg and honors his major contributions to many areas of biophysics and to the analysis of macromolecular states and interactions in particular. This work reviews the ATP and ADP states of a ubiquitous protein, actins, and considers the present evidence for and against unique, nucleotide‐dependent conformations of this protein. The effects of ATP and ADP on specific structural elements of actins, its loops and clefts, as revealed by mutational, crosslinking, spectroscopic, and EPR methods are discussed. It is concluded that the existing evidence points to dynamic equilibria of these structural elements among various conformational states in both ATP‐ and ADP‐actins, with the nucleotides impacting the equilibria distributions. © 2012 Wiley Periodicals, Inc. Biopolymers 99: 245–256, 2013.
Synthesis and Characterization of Rhenabenzyne Complexes
Authors: Chen Jiangxi , Shi Chuan , Sung Herman H. Y. , Williams Ian D. , Lin Zhenyang , Jia Guochen 
Published: September 2012

AbstractReactions of [ReH5(PMe2Ph)3] with alkynols HC≡CC(OH)(R)C≡CSiMe3 (R=tBu, iPr, 1‐adamantyl) in the presence of HCl give the vinylcarbyne complexes [Re{≡CCHC(R)C≡CSiMe3}Cl2(PMe2Ph)3], which react with tBuMgCl to give [Re{≡CCHC(R)C≡CSiMe3}HCl(PMe2Ph)3]. Treatment of [Re{≡CCHC(R)C≡CSiMe3}HCl(PMe2Ph)3] with nBu4NF gives [Re{≡CCHC(R)C≡CH}HCl(PMe2Ph)3], which first isomerizes to the bicyclic complexes [Re{CHCHC(R)CCH}Cl(PMe2Ph)3], and then to the rhenabenzynes [Re{≡CCHC(R)CHCH}Cl(PMe2Ph)3]. The NMR spectroscopic and structural data as well as the aromatic stabilization energy (ASE) and nucleus‐independent chemical‐shift (NICS) values suggest that these rhenabenzynes have aromatic character.
Molecular scaffolds underpinning macroglial polarization: An analysis of retinal Müller cells and brain astrocytes in mouse
Authors: Enger Rune , Gundersen Georg Andreas , Haj‐Yasein Nadia Nabil , Eilert‐Olsen Martine , Thoren Anna Elisabeth , Vindedal Gry Fluge , Petersen Pétur Henry , Skare Øivind , Nedergaard Maiken , Ottersen Ole Petter , Nagelhus Erlend A. 
Published: September 2012

AbstractKey roles of macroglia are inextricably coupled to specialized membrane domains. The perivascular endfoot membrane has drawn particular attention, as this domain contains a unique complement of aquaporin‐4 (AQP4) and other channel proteins that distinguishes it from perisynaptic membranes. Recent studies indicate that the polarization of macroglia is lost in a number of diseases, including temporal lobe epilepsy and Alzheimer's disease. A better understanding is required of the molecular underpinning of astroglial polarization, particularly when it comes to the significance of the dystrophin associated protein complex (DAPC). Here, we employ immunofluorescence and immunogold cytochemistry to analyze the molecular scaffolding in perivascular endfeet in macroglia of retina and three regions of brain (cortex, dentate gyrus, and cerebellum), using AQP4 as a marker. Compared with brain astrocytes, Müller cells (a class of retinal macroglia) exhibit lower densities of the scaffold proteins dystrophin and α‐syntrophin (a DAPC protein), but higher levels of AQP4. In agreement, depletion of dystrophin or α‐syntrophin—while causing a dramatic loss of AQP4 from endfoot membranes of brain astrocytes—had only modest or insignificant effect, respectively, on the AQP4 pool in endfoot membranes of Müller cells. In addition, while polarization of brain macroglia was less affected by dystrophin depletion than by targeted deletion of α‐syntrophin, the reverse was true for retinal macroglia. These data indicate that the molecular scaffolding in perivascular endfeet is more complex than previously assumed and that macroglia are heterogeneous with respect to the mechanisms that dictate their polarization. © 2012 Wiley Periodicals, Inc.
Chromosome stability in tonsillar squamous cell carcinoma is associated with HPV16 integration and indicates a favorable prognosis
Authors: Mooren Jeroen J. , Kremer Bernd , Claessen Sandra M.H. , Voogd Adri C. , Bot Fredrik J. , Peter Klussmann J. , Huebbers Christian U. , Hopman Anton H.N. , Ramaekers Frans C.S. , Speel Ernst‐Jan M. 
Published: September 2012

AbstractTonsillar squamous cell carcinoma (TSCC) is frequently associated with human papillomavirus (HPV) and chromosome instability. Data from cellular model systems are, however, controversial concerning a relation between HPV and chromosome instability development. Here we studied this association in 77 primary TSCC with known clinical outcome and cell cycle protein expression profiles. Thirty‐two tumors (42%) showed HPV16‐integration. All 77 cases were analyzed by fluorescence in situ hybridization using chromosome 1‐ and 7‐specific centromere DNA probes to detect chromosome instability, indicated by the presence of chromosome imbalances and/or polyploidization for these chromosomes. In addition, eight HPV‐positive dysplasias, seven of which were adjacent to a carcinoma, were analyzed. Disomy for chromosome 1 and 7 was present in 29 out of 77 TSCC (38%), of which 19 were HPV16‐positive (p = 0.002). Aneusomy was observed in the remaining 48 TSCC, of which 13 were HPV‐positive. Aneusomies correlated significantly with tobacco‐ and alcohol consumption (p = 0.001 and p = 0.016, respectively) and a higher T‐stage (p = 0.018). Both HPV‐positivity and chromosome disomy were significantly associated with a favorable disease‐free survival (p = 0.001 and p = 0.025, respectively). Particularly in the HPV16‐positive group chromosome instability is a very strong indicator for an unfavorable prognosis (p = 0.032). In the dysplasias an identical HPV and chromosome copy number status was identified as in the adjacent tumors. We conclude that HPV‐positive TSCC and their precursor lesions are more often genetically stable than HPV‐negative lesions and that these tumors are associated with a favorable prognosis. Chromosome instability is an indicator for unfavorable prognosis, particularly in the HPV‐positive patient group.
Variationally determined electronic states for the theoretical analysis of intramolecular interaction. II. Qualitative nature of the PO bond in phosphine oxides
Authors: Yamada Kenta , Koga Nobuaki 
Published: September 2012

AbstractWe have developed a space‐restricted wave function (SRW) method for the analysis of various types of intramolecular interactions. In this study, we demonstrate the applicability of our SRW method to the analysis of the nature of the PO bond in phosphine oxide (R3PO), one of the hypervalent molecules. An interesting character of this bond has been extensively studied by focusing on the negative hyperconjugation of the O lone pair (nO) with the R3P group. We reinvestigated the nature of the bond in terms of a change in total energy to produce evidence for the validity of our method. The electronic states without the interaction involving three nO orbitals (R3P+−O−) produced by the method were used as reference states in the assessment of the effects of this nO–R3P interaction. The result confirms that this interaction plays an essential role in the nature of the bond and occurs between the nO orbitals and the PR antibonding orbitals, in agreement with previous studies. A molecular orbital (MO)‐pair analysis technique shows that the nO–R3P interaction is decomposed into the negative hyperconjugation and the Pauli repulsion. Considering a reference state where the PO bond is completely broken (R3P2+···O2−) at an interacting distance, PO bond formation is attributed to one σ bond plus two 0.5 π bonds. This is equivalent to three banana bonds highly polarized to the O atom. Consequently, the SRW method suggested improved explanations of the nature of the PO bond. © 2012 Wiley Periodicals, Inc.
Electrochemical Behaviors of Adenosine‐5′‐triphosphate on Molecular Wire Modified Carbon Paste Electrode and Its Sensitive Detection
Authors: Sun Wei , Xu Li , Li Tongtong , Wang Xiuzhen , Li Guangjiu , Sun Zhenfan 
Published: September 2012

AbstractA new electrochemical method was proposed for the determination of adenosine‐5′‐triphosphate (ATP) based on the electrooxidation at a molecular wire (MW) modified carbon paste electrode (CPE), which was fabricated with diphenylacetylene (DPA) as the binder. A single well‐defined irreversible oxidation peak of ATP appeared on MW‐CPE with adsorption‐controlled process and enhanced electrochemical response in a pH 3.0 Britton‐Robinson buffer solution, which was due to the presence of high conductive DPA in the electrode. The electrochemical parameters of ATP were calculated with the electron transfer coefficient (α) as 0.54, the electron transfer number (n) as 1.9, the apparent heterogeneous electron transfer rate constant (ks) as 2.67 × 10−5 s−1 and the surface coverage (ΓT) as 4.15 × 10−10 mol cm−2. Under the selected conditions the oxidation peak current was proportional to ATP concentration in the range from 1.0 × 10−7 mol L−1 to 2.0 × 10−3 mol L−1 with the detection limit as 1.28 × 10−8 mol L−1 (3σ) by sensitive differential pulse voltammetry. The proposed method showed good selectivity without the interferences of coexisting substances and was successful applied to the ATP injection samples detection.
DC‐gated high resolution three‐dimensional lung imaging during free‐breathing
Authors: Weick Stefan , Breuer Felix A. , Ehses Philipp , Völker Michael , Hintze Christian , Biederer Jürgen , Jakob Peter M. 
Published: September 2012

AbstractPurpose:To use the acquisition of the k‐space center signal (DC signal) implemented into a Cartesian three‐dimensional (3D) FLASH sequence for retrospective respiratory self‐gating and, thus, for the examination of the whole human lung in high spatial resolution during free breathing.Materials and Methods:Volunteer as well as patient measurements were performed under free breathing conditions. The DC signal is acquired after the actual image data acquisition within each excitation of a 3D FLASH sequence. The DC signal is then used to track respiratory motion for retrospective respiratory gating.Results:It is shown that the acquisition of the DC signal after the imaging module can be used in a 3D FLASH sequence to extract respiratory motion information for retrospective respiratory self‐gating and allows for shorter echo times (TE) and therefore increased lung parenchyma SNR.Conclusion:The acquisition of the DC signal after image signal acquisition allows successful retrospective gating, enabling the reconstruction of high resolution images of the whole human lung under free breathing conditions. J. Magn. Reson. Imaging 2013;37:727–732. © 2012 Wiley Periodicals, Inc.
Customer‐related social stressors and service providers' affective reactions
Authors: Dudenhöffer Sarah , Dormann Christian 
Published: September 2012

SummaryPrevious research has shown that customer‐related social stressors (CSS) have negative effects on service providers' long‐term well‐being. Little is known, however, about short‐term and mid‐term affective stress reactions and reciprocal effects between service providers' affect and CSS. The aim of this study was to expand extant research (i) by analyzing service providers' short‐term (across a day) and mid‐term (across 2 weeks) affective reactions to perceived CSS; (ii) by analyzing intraindividual as well as interindividual effects; and (iii) by investigating reciprocal effects of affective reactions and CSS that may eventually lead to psychosocial cycles. Our study employed a diary design with three measurement occasions per day over five consecutive days and a two‐week panel design using a sample of employees from public service organizations (N = 106). Results showed that CSS elicit changes in service providers' short‐term and mid‐term negative affects. We also found support for reversed effects of service providers' affective reactions on experienced CSS indicating psychosocial cycles between customers and service providers. To prevent escalation, we discuss potential resources. Copyright © 2012 John Wiley & Sons, Ltd.
Gelation Behavior of Bioabsorbable Hydrogels Consisting of Enantiomeric Mixtures of A–B–A Tri‐block Copolymers of Polylactides (A) and Poly(ethylene glycol) (B)
Authors: Lee Chan Woo , Manoshiro Tomoyuki , Hsu Yu‐I , Kimura Yoshiharu 
Published: September 2012

AbstractA–B–A tri‐block copolymers of poly(L‐lactide) (PLLA: A) and poly(ethylene glycol) (PEG: B) and those of poly(D‐lactide) (PDLA: A) and PEG (B) were prepared and suspended in saline. Mixing suspensions consisting of the enantiomeric copolymers with identical block compositions induced a temperature‐dependent sol‐to‐gel transition. It was found that the composition window of the copolymers that allowed the spontaneous sol–gel transition around body temperature was considerably narrow, being affected by how easily the PLLA and PDLA blocks of the copolymers can form the stereocomplex in the mixed suspensions. The gelation rate and gel strength also depended on the copolymer composition and concentration at a constant gelation temperature of 37 °C.
Polylactide/transition metal ion modified montmorillonite nanocomposite—a critical evaluation of mechanical performance and thermal stability
Authors: K. Prakalathan , Mohanty Smita , Nayak Sanjay K. 
Published: September 2012

AbstractPolylactide (PLA) nanocomposite was prepared by melt blending of PLA and transition metal ion (TMI) adsorbed montmorillonite (MMT). PLA nanocomposite was characterized for mechanical performance, and the results revealed that the tensile modulus, flexural modulus, and impact strength were increased marginally. The nanocomposite was optimized at 5 wt% of TMI‐modified MMT (TMI‐MMT) loading. Thermogravimetric analysis displayed increase in onset of degradation temperature, and differential scanning calorimetry showed marginal increase in glass transition temperature (Tg) and melting temperature (Tm) in case of PLA nanocomposites, when compared with virgin PLA. The flammability testing of nanocomposites indicated good fire retardance characters. X‐ray diffraction patterns of TMI‐MMT and the corresponding nanocomposites indicated an intercalation of the metal ions into the clay interlayer. Fourier transform infrared spectroscopy analysis indicate formation of [Zn(EDA)2]2+ and [Cu(EDA)2]2+ complexes in the MMT interlayer. Dynamic mechanical analysis shows increase in glass transition temperature (Tg) and storage modulus (E′) in case of PLA nanocomposites reinforced with 5 wt% modified MMT. POLYM. COMPOS., 2012. © 2012 Society of Plastics Engineers
Preparation and properties of polyester nanocomposites: Effects of mixing
Authors: Rajabian Mahmoud , Piroozfar Hamid , Beheshty Mohammad Hosain 
Published: September 2012

AbstractA multistep mixing technique to manufacture highly intercalated/exfoliated nanocomposites of layered silicates in thermosetting resins was developed and successfully tested up to 9% nanoparticle content. We investigated the influences of mixing conditions on linear and nonlinear viscoelastic properties of processed clays and polyester suspensions. The effects of shear and mechanical mixing on the state of dispersion and microstructure of the cured nanocomposites were examined by the XRD and TEM techniques. Transient viscosities and linear viscoelastic data for the nanocomposites demonstrated significant enhancement by increasing speed and time of mechanical mixing. The solid state characterization techniques confirm mixed to highly exfoliated and delaminated microstructures were attained by the proposed method. Our observations indicate that the multistage mechanical mixing following a stationary step can be used to produce thermosetting and thermoplastic nanoparticles with the improved properties. POLYM. COMPOS., 2012. © 2012 Society of Plastics Engineers
Investigation of mechanical and thermodynamic properties of pH‐sensitive poly(N,N‐dimethylaminoethyl methacrylate) hydrogels prepared with different crosslinking agents
Authors: Orakdogen Nermin 
Published: September 2012

AbstractpH‐sensitive poly(N,N‐dimethylaminoethyl methacrylate) hydrogels were synthesized by free‐radical crosslinking polymerization using two different crosslinking agents; tetraethylene glycol dimethacrylate (TEGMA) and N,N′‐methylenebis(acrylamide) (BAAm). The influence of the polymerization factors such as the type of the crosslinking agent and the gel preparation concentration on the swelling behavior, the gel strength, the effective crosslinking density and the average chain length between the crosslink points for the resulting hydrogels was investigated. The results of the equilibrium swelling measurements in water showed that the linear swelling ratio of the resulting hydrogels increases with increasing gel preparation concentration. The swelling ratio of PDMAEMA hydrogels crosslinked with BAAm is larger than those for hydrogels crosslinked with TEGMA over the entire range of the polymer network concentration. The hydrogels exhibit very sharp pH‐sensitive phase transition in a very narrow range of pH between 7.7 and 8.0. From the mechanical measurements, it was also found that the linear swelling ratio of resulting hydrogels depends on the crosslinking density and also the type of the crosslinker used in the preparation. The resulting hydrogels are thought to be good candidates for pH‐sensitive drug delivery systems. POLYM. ENG. SCI. 2013. © 2012 Society of Plastics Engineers