bluuebunny/crossref_metadata_2025_split huggingface dataset:
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia
Authors: Maeda Koichi , Miyamoto Yoshinari , Sawai Hideaki , Karniski Lawrence P. , Nakashima Eiji , Nishimura Gen , Ikegawa Shiro 
Published: April 2006

AbstractDiastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO‐II) and achondrogenesis 1B (ACG‐1B). Correlation between disease severity and residual sulfate transport activity has been reported. Here we report a patient with DTDST mutations, whose manifestations fell in a range between AO‐II and DTD. The patient was a compound heterozygote for the recurrent c.835C>T (p.R279W) and novel c.1987G>A (p.G663R) mutations. Immunocytochemical analysis in HEK293 cells showed that the p.G663R mutation was localized within the cytoplasm, and not to the cell membrane, suggesting p.G663R is a loss‐of‐function mutation. Our case supports the previously described correlation between the severity of the phenotype and the putative level of residual transport function. © 2006 Wiley‐Liss, Inc.
Enantioselective Rhodium‐Catalyzed Hydrogenation of Enamides in the Presence of Chiral Monodentate Phosphanes
Authors: Enthaler Stephan , Hagemann Bernhard , Junge Kathrin , Erre Giulia , Beller Matthias 
Published: April 2006

AbstractThe rhodium‐catalyzed asymmetric hydrogenation of different acyclic and cyclic N‐acyl enamides to give N‐acyl‐protected optically active amines has been examined for the first time in detail in the presence of chiral monodentate 4,5‐dihydro‐3H‐dinaphthophosphepines 5a–i. The enantioselectivity is largely dependent on the nature of the substituent at the phosphorus atom and the enamide substrate. Applying optimized conditions up to 95 % ee and catalyst activity up to 2000 h–1 (TOF) have been achieved.(© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2006)
Hereditary cancer predisposition in children: Genetic basis and clinical implications
Authors: Strahm Brigitte , Malkin David 
Published: April 2006

AbstractAlthough cancer predisposition syndromes are rare and malignancies arising in this context account for only 1–10% of childhood tumors, studies performed in affected patients and their families have been of unique value for the understanding of cancer development. Three classes of genes (tumor suppressor genes, oncogenes and stability genes) have been identified and shown to be involved in the pathogenesis of familial, as well as sporadic tumors. Cancer has long been recognized as a genetic disease of somatic cells. Despite improved understanding of the molecular basis of predisposition to cancer and better diagnostic tools, the care of these patients and their families remains a major challenge for the clinician. Medical, psychological, ethical and legal issues have to be considered. This review focuses on examples of each class of inherited cancer predisposition syndromes with special implications for patients in the pediatric age group, including retinoblastoma predisposition, Li‐Fraumeni syndrome, multiple endocrine neoplasia disorders and Fanconi anemia. The genetic basis of cancer predisposition is discussed as well as the major concepts and controversies in the clinical management of these patients and their families. © 2006 Wiley‐Liss, Inc.
Development of a membrane array‐based multimarker assay for detection of circulating cancer cells in patients with non‐small cell lung cancer
Authors: Sheu Chau‐Chyun , Yu Ya‐Ping , Tsai Jong‐Rung , Chang Mei‐Yin , Lin Shiu‐Ru , Hwang Jhi‐Jhu , Chong Inn‐Wen 
Published: April 2006

AbstractCombination of multiple mRNA markers has been largely investigated for detection of circulating cancer cells. However, current PCR‐based methods are relatively expensive and time consuming. The aim of this study was to develop a membrane array‐based multimarker assay for detection of circulating cancer cells in nonsmall cell lung cancer (NSCLC) patients. At first, we selected 22 candidate genes by means of suppression subtractive hybridization and Northern blot analysis. The diagnostic value of each candidate gene was then preliminarily evaluated in 50 pairs of blood samples by membrane array method. Accordingly, 17 genes with area under the ROC curve (AUC) ≥ 0.8 were selected as target genes to reconstruct the diagnostic membrane array, which was then used to test peripheral blood samples from 100 NSCLC patients and 147 control subjects. ROC curve analysis demonstrated that the optimal threshold number of overexpressed markers on membrane array for discrimination between NSCLC patients and control subjects was 12. As a result, the diagnostic membrane array could detect circulating cancer cells in 90 (90%) of 100 NSCLC patients and in 14 (9.5%) of 147 control subjects (including 6 of 100 normal persons, 3 of 20 breast cancer patients, 3 of 15 colorectal cancer patients and 2 of 12 gastric cancer patients). Moreover, the detection rate was significantly correlated with NSCLC patients' metastatic status and overall stage (p = 0.028 and 0.014, respectively). These results suggested that our blood‐based membrane array assay for molecular detection of circulating lung cancer cells has great potential for clinical applications. © 2006 Wiley‐Liss, Inc.
Silencing of the UCHL1 gene in human colorectal and ovarian cancers
Authors: Okochi‐Takada Eriko , Nakazawa Kazuyuki , Wakabayashi Mika , Mori Akiko , Ichimura Shizue , Yasugi Toshiharu , Ushijima Toshikazu 
Published: April 2006

AbstractAberrant DNA methylation is associated with many types of human cancers. To identify genes silenced in human colorectal cancers, we performed a microarray analysis for genes whose expression was induced by treatment of HCT116 human colon cancer cells with a demethylating agent, 5‐aza‐2′‐deoxycitidine (5‐aza‐dC). Seven known genes were identified as being upregulated (≥8‐fold) and expressed at more than twice as high as the average level. Among these was the UCHL1 gene (also known as PGP9.5), which is involved in regulation of cellular ubiquitin levels. A dense CpG island in its promoter region was completely methylated in HCT116 cells, and no mRNA was detected. 5‐Aza‐dC treatment of HCT116 cells induced dose‐dependent demethylation of the CpG island, and restored UCHL1 mRNA and protein expression. UCHL1 silencing was observed in 11 of 12 human colorectal cancer cell lines, and its methylation was detected in 8 of 17 primary colorectal cancers. Further, UCHL1 silencing was observed in 6 of 13 ovarian cancer cell lines, and its methylation was detected in 1 of 17 primary ovarian cancers. These results showed that UCHL1 is inactivated in human colorectal and ovarian cancers by its promoter methylation, and suggest that disturbance of cellular ubiquitin levels is present. © 2006 Wiley‐Liss, Inc.
Storage studies of tomato and bell pepper using eco‐friendly films
Authors: Srinivasa Ponnachanna C , Harish Prashanth Keelara V , Susheelamma Nuggenahalli S , Ravi Ramasamy , Tharanathan Rudrapatnam N 
Published: April 2006

AbstractTomato (Lycopersicon esculentum) and bell pepper (Capsicum annuum), packaged in cartons (approximately 0.35 kg per box) covered with either eco‐friendly chitosan film or synthetic petroleum‐based low‐density polyethylene (LDPE) film, were stored at room temperature (27 ± 1 °C) and 65 ± 3% relative humidity (RH). Fruits were withdrawn periodically and changes in physico‐chemical, instrumental and sensory characteristics were analysed. During storage, oxygen levels showed only marginal changes, while CO2 levels showed a gradual increase, especially so in LDPE film‐covered cartons. The fresh weight loss, colour, firmness, formation of defective spots and shrivelling showed greater changes for unpackaged fruits as well as for those in LDPE film‐covered cartons, in comparison with fruits stored in chitosan film‐covered cartons, which retained many of the desirable attributes. Principle component analysis of data from sensory or instrumental sensory analyses indicated segregation of samples stored under different conditions with respect to both desirable and undesirable attributes. The fruits showed greater deterioration, including the loss of characteristic bell pepper odour, when packaged in cartons covered with LDPE films, while those packaged in chitosan film retained more of the desirable quality attributes for a longer period. Copyright © 2006 Society of Chemical Industry
Light‐induced neutralization of hydrogen shallow donors in zinc oxide
Authors: Nickel N. H. 
Published: April 2006

AbstractInfrared absorption measurements of the O–H shallow donor complex in zinc oxide show that its vibrational mode is very sensitive to sub band‐gap illumination. Upon illumination the intensity of the O–H vibrational line exhibits a pronounced decrease. This effect is completely reversible. Annealing the specimens at temperatures above 30 K restores the O–H vibrational line. The decrease and increase of the O–H absorption line is caused by a change of the infrared effective charge due to neutralization and ionization, respectively, of H shallow donors. (© 2006 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
A new equation for calculating wave loads on offshore structures
Authors: Rainey R. C. T. 
Published: April 2006

This paper derives an equation for the potential-flow wave loading on a lattice-type offshore structure moving partially immersed in waves. It is for the limiting case of small lattice-member diameter, and deals entirely in member-centreline fluid properties, so that it can be applied computationally by a simple ‘stick model’ computer program. This field is currently served by a simple two-term semiempirical formula ‘Morison's equation’: the new equation is effectively a replacement for the Morison inertial term, allowing the Morison drag term (or some refinement of it) to describe exclusively the effects of vorticity, which can in principle be calculated to greater accuracy when isolated in this way.The new equation calculates the potential-flow wave load accurate to second order in wave height, which is a great improvement on ‘Morison's equation’: such results can currently only be sought by very much more complicated and computationally intensive methods, of currently uncertain repeatability. Moreover the third-order error is localized at the free-surface intersection, so the equation remains attractive for fully nonlinear problems involving intermittent immersion of lattice members, which are currently beyond even the most sophisticated of these computationally intensive methods. It is shown that the primary reason for this large contrast in computational efficiency is that the loads are derived from energy considerations rather than direct integration of surface pressures, which requires a lower level of flow detail for a given level of load-calculation accuracy.These improvements must of course be seen against the current levels of uncertainty over the calculation of vorticity-induced loads, which in many applications completely dwarf inaccuracies in potential-flow load calculation. The conditions are accordingly established under which the improvements are comparable to the total wave load predicted by the Morison drag and inertia terms in combination. They are that the lattice member diameter is greater than its length/10, or the relative fluid motion/5, or the structure's motion radius/20, or the wavelength/30: if any one of these conditions is satisfied, the new equation is worthwhile even when used in combination with simple vorticity-induced load calculations from a Morison drag term.
Vertical mixing due to the breaking of critical internal waves on sloping boundaries
Authors: Ivey G. N. , Nokes R. I. 
Published: April 2006

A laboratory experiment is used to examine the vertical mixing resulting from the breaking of internal waves on a sloping boundary in a continuously stratified fluid. Attention is confined to the case of critical waves when the slope of the group velocity vector of the incident waves is equal to the bottom slope. Along the sloping boundary a turbulent bottom boundary layer forms with a thickness dependent on the incident wave amplitude. The mixing efficiency, defined as the ratio of the increase in potential energy due to mixing to the loss of kinetic energy by the incident waves, is dependent upon the stability of the flow and has an upper bound of approximately 0.20.By examining the increase in potential energy of the fluid as a result of sustained mixing, we are able to compute the transition value of the dissipation εtr below which no mixing occures. For mixing due to the breaking of critical internal waves on sloping boundaries we find that εtr = (8±2)νN2. From comparisons with experiments with grid-generated turbulence, this suggests that while εtr/νN2 = 0(10) in the available data sets, the specific value of εtr may be mechanism dependent.
The concentration distribution produced by shear dispersion of solute in Poiseuille flow
Authors: Stokes A. N. , Barton N. G. 
Published: April 2006

One of G. I. Taylor's most famous papers concerns the large-time behaviour of a cloud of soluble matter which has been injected into a solvent in laminar flow in a pipe. In the past thirty years, a number of successful attempts have been made to derive differently or extend Taylor's result, which is that the cloud of solute eventually takes a Gaussian profile in the flow direction. The present paper is another examination of this well-worked problem, but this time from the viewpoint of a formal integral transform representation of the solution. This approach leads to a better understanding of the solution; it also enables efficient numerical computations, and leads to extended and new asymptotic expansions.A Laplace transform in time and a Fourier transform in the flow direction leaves a complicated eigenvalue problem to be solved to give the cross-sectional behaviour. This eigenvalue problem is examined in detail, and the transforms are then inverted to give the concentration distribution. Both numerical and asymptotic methods are used. The numerical procedures lead to an accurate description of the concentration distribution, and the method could be generalized to compute dispersion in general parallel flows. The asymptotic procedures use two different classes of eigenvalues to give leading- and trailing-edge approximations for the solute cloud at small times. Meanwhile, at larger times, one eigenvalue branch dominates the solution and Taylor's result is recovered and extended using'the computer to generate extra terms in the approximation. Sixteen terms in the approximation are calculated, and a continued fraction expansion is deduced to enhance the accuracy.
Shear-layer pressure fluctuations and superdirective acoustic sources
Authors: Crighton D. G. , Huerre P. 
Published: April 2006

We consider a sequence of boundary-value problems for the acoustic wave equation, with the pressure specified on the boundary as a function of space and time, and simulating features of the pressure field measured just outside a turbulent shear layer supporting large-scale coherent structures. The boundary pressure field has the form of a travelling subsonic plane wave, modulated by a large-scale envelope function. Three models for the envelope distribution are studied in detail, and the particular features which they exhibit are shown to be representative of large classes of amplitude functions.We start by looking at the hydrodynamic near field of the boundary pressure fluctuations, over spatial regions throughout which the motion can be taken as incompressible. Very close to the boundary, the pressure fluctuations decay exponentially with transverse distance, while at sufficiently large distances from the whole wave packet on the boundary, the pressure fluctuations have a dipole algebraic decay. We investigate the transition from exponential to algebraic decay, and find that it is effected through quite a complicated multilayer structure which depends crucially on the detailed form of the envelope.Acoustic fields are then determined both from exact solutions to the wave equation, and from matching arguments. In some cases, where the boundary source is compact, the distant acoustic fields have a simple compressible dipole type of behaviour. In other cases, however, when the boundary source is non-compact, the acoustic field has a superdirective character, the angular variation being described by exponentials of cosines of the angle with the streamwise direction. It is shown how the superdirective acoustic sources are completely compatible with the features of the inner incompressible field, and a criterion for the occurrence of the superdirective acoustic fields will be given. Superdirective fields of this kind have been observed in measurements by Laufer & Yen (1983) on a low-speed round jet of Mach number 0.1, and the general relation of our results to those experiments is explained.
A contribution of core polarization to the hyperfine structure parameters
Authors: A V Loginov  
Published: April 2006

A method earlier suggested by the author for calculating the contribution of a particular interaction to a particular semiempirical parameter is adopted to calculate the contribution of core polarization to semiempirical values of the hyperfine structure parameters. Core polarization is envisaged as mixing with configurations originated by excitation of electrons from inner s2shells. A contribution of configuration mixing3s23p63d4s + 3s3p63d4s2+ 3s3p63d4sns(n= 5-7),3s23p63d2+ 3s3p63d2ns(n= 4-7),3s23p63d4p + 3s3p63d4pns(n= 4-7)to the hyperfine structure parameters of the configurations 3d4s, 3d2, 3d4p in Sc II spectrum is calculated.
Multicenter, Randomized, Double‐Blind Study Comparing 10, 20 and 40 mg Pantoprazole in Children (5‐11 Years) With Symptomatic Gastroesophageal Reflux Disease
Authors: Tolia Vasundhara , Bishop Phyllis R. , Tsou V. Marc , Gremse David , Soffer Elaine F. , Comer Gail M. ,   Member of the 322 Study Group
Published: April 2006

ABSTRACTObjective:To evaluate symptom improvement in 53 children (aged 5‐11 years) with endoscopically proven gastroesophageal reflux disease (GERD) treated with pantoprazole (10, 20 and 40 mg) using the GERD Assessment of Symptoms in Pediatrics Questionnaire.Methods:The GERD Assessment of Symptoms in Pediatrics Questionnaire was used to measure the frequency and severity over the previous 7 days of abdominal/belly pain, chest pain/heartburn, difficulty swallowing, nausea, vomiting/regurgitation, burping/belching, choking when eating and pain after eating. Individual symptom scores were based on the product of the frequency and usual severity of each symptom. The sum of the individual symptom score values made up the composite symptom score (CSS). The primary end point was the change in the mean CSS from baseline to week 8.Results:Mean frequency and severity of each symptom significantly decreased (from P < 0.006 to P < 0.001) over time. Similar significant decreases in CSS at week 8 versus baseline (P < 0.001) were seen in all groups. Significant decreases from baseline in CSS were noted from weeks 1 to 8 in the 20‐mg (P < 0.003) and 40‐mg (P < 0.001) groups. The 20‐ and 40‐mg doses were significantly (P < 0.05) more effective than the 10‐mg dose in improving GERD symptoms at week 1. Adverse events were similar among the treatment groups.Conclusions:Pantoprazole (20 and 40 mg) is effective in reducing endoscopically proven GERD symptoms in children. Both 20 and 40 mg pantoprazole significantly reduced symptoms as early as 1 week.
An algorithm for predicting protein–protein interaction sites: Abnormally exposed amino acid residues and secondary structure elements
Authors: Hoskins Jemima , Lovell Simon , Blundell Tom L. 
Published: April 2006

AbstractMultiprotein systems mediate most regulatory processes in living organisms. Although the structures of the individual proteins are often defined, less is known of the structures of multiprotein systems. Computational methods for predicting interfaces, using evolutionary conservation and/or physicochemical data, have been developed. Here we consider the use of solvent accessibility, residue propensity, and hydrophobicity, in conjunction with secondary structure data, as prediction parameters. We analyze the influence of residue type and secondary structure on solvent accessibility and define a measure of “relative exposedness.” Clustering abnormally high scoring residues provides a basis for predicting interaction sites. The analysis is extended to investigate abnormally exposed secondary structure elements, particularly β‐sheet strands. We show that surface‐exposed β‐strands lacking protective features are more likely to be found at protein–protein interfaces, allowing us to create an algorithm with ∼68% and ∼75% accuracy in differentiating between interacting and edge strands in isolated β‐strands and β‐sheet strands, respectively. These methods of identifying abnormally exposed surface regions are combined in an algorithm, which, on a data set of 77 unbound and disjoint (single chain extracted from complex) structures, predicts 79% of the protein–protein interfaces correctly. If enzyme–inhibitor complexes, where the inhibitor mimics a nonprotein substrate, are excluded, the accuracy increases to 85%.
3‐Nitrotyrosine as a spectroscopic probe for investigating protein–protein interactions
Authors: De Filippis Vincenzo , Frasson Roberta , Fontana Angelo 
Published: April 2006

Abstract3‐Nitrotyrosine (NT) is ∼103‐fold more acidic than Tyr, and its absorption properties are strongly pH‐dependent. NT absorbs radiation in the wavelength range where Tyr and Trp emit fluorescence (300 450 nm), and it is essentially nonfluorescent. Therefore, NT may function as an energy acceptor in resonance energy transfer (FRET) studies for investigating ligand protein interactions. Here, the potentialities of NT were tested on the hirudin thrombin system, a well‐characterized protease inhibitor pair of key pharmacological importance. We synthesized two analogs of the N‐terminal domain (residues 1 47) of hirudin: Y3NT, in which Tyr3 was replaced by NT, and S2R/Y3NT, containing the substitutions Ser2 → Arg and Tyr3 → NT. The binding of these analogs to thrombin was investigated at pH 8 by FRET and UV/Vis‐absorption spectroscopy. Upon hirudin binding, the fluorescence of thrombin was reduced by ∼50%, due to the energy transfer occurring between the Trp residues of the enzyme (i.e., the donors) and the single NT of the inhibitor (i.e., the acceptor). The changes in the absorption spectra of the enzyme inhibitor complex indicate that the phenate moiety of NT in the free state becomes protonated to phenol in the thrombin‐bound form. Our results indicate that the incorporation of NT can be effectively used to detect protein protein interactions with sensitivity in the low nanomolar range, to uncover subtle structural features at the ligand protein interface, and to obtain reliable Kd values for structure activity relationship studies. Furthermore, advances in chemical and genetic methods, useful for incorporating noncoded amino acids into proteins, highlight the broad applicability of NT in biotechnology and pharmacological screening.