bluuebunny/crossref_metadata_2025_split huggingface dataset:
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly
Authors: Nishimura Akira , Sakai Haruya , Ikegawa Shiro , Kitoh Hiroshi , Haga Nobuyuki , Ishikiriyama Satoshi , Nagai Toshiro , Takada Fumio , Ohata Takako , Tanaka Fumihiko , Kamasaki Hotaka , Saitsu Hirotomo , Mizuguchi Takeshi , Matsumoto Naomichi 
Published: March 2007

AbstractFBN2, FBN1, TGFBR1, and TGFBR2 were analyzed by direct sequencing in 15 probands with suspected congenital contractural arachnodactyly (CCA). A total of four novel FBN2 mutations were found in four probands (27%, 4/15), but remaining the 11 did not show any abnormality in either of the genes. This study indicated that FBN2 mutations were major abnormality in CCA, and TGFBR and FBN1 defects may not be responsible for the disorder. FBN2 mutations were only found at introns 30, 31, and 35 in this study. Thus analysis of a mutational hotspot from exons 22 to 36 (a middle part) of FBN2 should be prioritized in CCA as previously suggested. © 2007 Wiley‐Liss, Inc.
Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
Authors: Guzel Aslan , Tatli Mehmet , Bilguvar Kaya , DiLuna Michael L. , Bakkaloglu Betul , Ozturk Ali K. , Bayrakli Fatih , Gunel Murat 
Published: March 2007

AbstractWe report on an apparently new syndrome in a consanguineous family with seven members, three of whom have cerebral anomalies including pachygyria and arachnoid cysts along with mental retardation and seizures. The two patients with seizure disorders also had multiple enlarged perivascular spaces seen in the white matter of the centrum semiovale. Our data provide a contribution to the accumulating knowledge on familial cerebral anomalies including arachnoid cysts and lissencephaly. Given the lack of mutation in known lissencephaly genes such asLIS1,14‐3‐3ε, andDCX, this syndrome may constitute a new phenotype with autosomal recessive inheritance. © 2007 Wiley‐Liss, Inc.
Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems
Authors: Zou Ying S. , Van Dyke Daniel L. , Ellison Jay W. 
Published: March 2007

AbstractWe describe a 7‐year‐old patient with pervasive developmental disorder and behavioral problems who has a de novo cryptic unbalanced der(2)t(2;16)(p25.3;q24.3) chromosome resulting in deletion of distal 2p and duplication of distal 16q. These segmental aneusomies were detected by microarray comparative genomic hybridization analysis, as was a distal 17p13.3 duplication that was inherited from her father. FISH analysis using bacterial artificial chromosomes confirmed a deletion of approximately 1,700 kbp of DNA from 2pter (containing at least six complete genes or transcription units) and a duplication of ∼500 kbp from 16qter (including up to ten genes or transcription units). Several genes in these regions are plausible candidates for contributing to the patient's phenotype. © 2007 Wiley‐Liss, Inc.
Pulmonary disease is a component of distal arthrogryposis type 5
Authors: Williams Marc S. , Elliott C. Gregory , Bamshad Michael J. 
Published: March 2007

AbstractWe report on a three‐generation family with distal arthrogryposis type 5 (DA5). The family has four affected members in three generations with an apparent autosomal dominant pattern of inheritance. Three affected individuals were examined. All have distal joint contractures with absent flexion creases, limited mobility of all small and large joints, unusual stance with shortened heel cords and pes cavus, firm muscles, short stature, decreased extraocular movements, and pectus excavatum. The propositus has pulmonary hypertension secondary to chronic hypoxia from restrictive chest disease, alveolar hypoventilation, and residence at 7,000 feet above sea level. Cardiac catheterization documented pulmonary artery pressure of 54 mmHg and a pulmonary capillary wedge pressure of 10 mmHg. Pulmonary function tests showed severe chest restriction (forced vital capacity 30% of predicted; total lung capacity 51% predicted); and reduction of maximal inspiratory and expiratory pressures. Arterial blood gases documented alveolar hypoventilation. Restrictive chest disease is a component of DA5. This implies involvement of the skeletal, and/or respiratory muscles. All individuals diagnosed with DA5 should be evaluated for chest disease, alveolar hypoventilation, as treatment of chronic hypoxia may delay or reverse pulmonary hypertension. © 2007 Wiley‐Liss, Inc.
Over‐expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: A new syndrome
Authors: Feldman George J. , Billings Paul C. , Patel Rajesh V. , Caron Robert J. , Guenther Catherine , Kingsley David M. , Kaplan Frederick S. , Shore Eileen M. 
Published: March 2007

AbstractBone morphogenetic proteins (BMPs) are a highly conserved class of signaling molecules that induce ectopic cartilage and bone formation in vivo. Dysregulated expression of bone morphogenetic protein 4 (BMP4) is found in the cells of patients who have fibrodysplasia ossificans progressiva (FOP), a genetic disorder of axial and appendicular skeletal malformation and progressive heterotopic ossification. Loss of function mutations in the bone morphogenetic protein 5 (bmp5) gene leading to under‐expression of BMP5 cause the murine short ear syndrome, characterized by small malformed ears and a broad range of axial skeletal malformations. We found features reminiscent of both the short ear mouse and FOP in a child with malformed external ears, multiple malformations of the axial skeleton, and progressive heterotopic ossification in the neck and back. We examined BMP mRNA expression in transformed lymphocytes by semi‐quantitative RT‐PCR and protein expression by ELISA assays and immunohistochemistry. Elevated levels of BMP4 and BMP5 mRNA and protein were detected in the patient's cells while levels of BMP2 mRNA were unchanged. Our data suggest that dysregulated expression of BMP4 and BMP5 genes is associated with an array of human axial skeletal abnormalities similar to the short ear mouse and FOP. © 2007 Wiley‐Liss, Inc.
Untersuchungen über die Verengerung, welche sich im Wasserstrahl bildet, wenn Wasser aus Gefässen durch eine Oeffnung in einer dünnen Platte ausströmt
Authors: Venturi J. B. 
Published: March 2007

AbstractDie Verengerung eines Wasserstrahls, der durch eine dünne Platte aus einem Gefässe ausfliesst, ist nicht der Neutonsche Cataract. — Die Geschwindigkeit in der verengerten Stelle ist fast dieselbe, welche zur Höhe des Wasserstandes, als Fallhöhe, gehört.Sonderbare Gestalt eines Strahls, der durch eine Ritze ausfliesst. Versuch 31. Bei geradlinigen Oeffnungen entsprechen die Seiten des verengerten Strahls den Winkeln der Oeffnung, und umgekehrt. Ursache dieser Erscheinung.Bei höherm Wasserstande fällt die Stelle der grössten Verengerung des Strahls tiefer unter die Oeffnung hinab, als bei kleinern Wasserhöhen Versuch 32. Andere Verschiedenheit in Gestalt und Geschwindigkeit des sich verengernden Strahls. Versuch 33 und 34 — Ausfluss aus einer Röhre, deren inneres Ende in das Gefäss selbst hineingeht. Versuch 35.
What to look for in the seismology of solar active regions
Authors: Cally P. S. 
Published: March 2007

AbstractUsing a newly developed extension of ray theory which accounts for mode transmission and conversion between fast and slow magnetoacoustic waves, as well as simple wave mechanical calculations, we find that strong surface magnetic fields, as may be found in solar and stellar active regions, have several related but distinct effects on seismic waves: transmission/conversion, shortened travel times, a directional filtering of acoustic waves entering the overlying atmosphere, and a tendency to more closely align velocities with the field as height increases in the atmosphere. Magnetic field inclination is particularly relevant to these effects. Here, we briefly review these findings, and present some new results on ray travel times and magnetic filtering. (© 2007 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Estimating the solar meridional circulation by normal mode decomposition
Authors: Krieger L. , Roth M. , von der Lühe O. 
Published: March 2007

AbstractThe objective of this article is to use Fourier‐Hankel decomposition as suggested earlier by Braun & Fan (1998) to estimate the integrated horizontal meridional flow velocity as a function of mode penetration depth, and to find ways of potentially improve this technique. We use a time series of 43200 (30 days) consecutive full‐disk Dopplergrams obtained by the MDI (Michelson Doppler Imager) instrument aboard the SOHO (Solar Heliospheric Observatory) spacecraft in April 1999. We find averaged meridional flow estimates of 15 m/s for modes with a penetration depth in the upper 20 Mm of the solar convection zone. This reproduces the results of the earlier investigations. Moreover we conclude that this method has the potential to become a new technique to measure the meridional circulation in the deep convection zone, if some improvements will be applied. (© 2007 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Differential response to ischemia in adjacent hippocampalsectors: neuronal death in CA1 versus neurogenesis in dentate gyrus
Authors: Yamashima Tetsumori , Tonchev Anton B. , Borlongan Cesar V. 
Published: March 2007

AbstractTwo hippocampal sectors show distinct responses to transient ischemia: the cornu Ammonis (CA)1 sector undergoes a delayed neuronal death followed by a lack of neuronal generation, while the dentate gyrus (DG) shows slight postischemic damage followed by an increased neurogenesis. Using the monkey experimental paradigm of transient whole brain global ischemia, the ‘calpain‐cathepsin hypothesis’ was formulated in 1998. This hypothesis proposes that following ischemia calpain compromises the integrity of lysosomal membrane, causing a leakage of degrading hydrolytic enzymes – cathepsins – into the cytoplasm. Ischemia induces Ca2+ mobilization, calpain activation, lysosomal membrane disruption, and cathepsin release, which all occur specifically in the CA1 sector and cause neuronal death. In the postischemic DG, a vascular niche has been implicated in adult neurogenesis, in that adventitial cells of the DG microvascular environment provoke postischemic up‐reguation of neurogenesis with the aid of brain‐derived neurotrophic factor and polysialylated form of the neural cell adhesion molecule. In parallel, Down's syndrome cell adhesion molecule has recently been shown to be expressed specifically in the neural progenitor cells of DG. In this review, we focus on the monkey experimental paradigm to reveal the remarkable contrasts between CA1 and DG in response to the ischemic insult.
Amyotrophic lateral sclerosis – The tools of the trait
Authors: Lederer Carsten W. , Santama Niovi 
Published: March 2007

AbstractThe aim of this review is to analyze how our knowledge on the etiology, pathology, and treatment of amyotrophic lateral sclerosis (ALS) has profited from the application of biotechnology tools for the identification of disease markers, the development of animal disease models, and the design of innovative therapeutics. In humans, ALS‐specific clinical, genetic or protein biomarkers, or panels of biomarkers stemming from genomics and proteomics analyses can be critical for early diagnosis, monitoring of disease progression, drug validation in clinical trials, and identification of therapeutic targets for subsequent drug development. At the same time, animal models representing a number of human superoxide dismutase 1 mutations, intermediate‐filament disorganization or axonal‐transport defects have been invaluable in unraveling aspects of the pathophysiology of the disease; in each case, these only represent a small proportion of all ALS patients. Preclinical and clinical trials, although at present heavily concentrating on pharmacological approaches, are embracing the emerging alternative strategies of stem‐cell and gene therapy. In combination with a further subcategorization of patients and the development of corresponding model systems for functional analyses, they will significantly influence the already changing face of ALS therapy.
Nuclear magnetic relaxation dispersion study of the dynamics in solid homopolypeptides
Authors: Goddard Yanina , Korb Jean‐Pierre , Bryant Robert G. 
Published: March 2007

AbstractThe 1H nuclear magnetic relaxation dispersion profiles were measured from 10 kHz to 30 MHz as a function of temperature for polyglycine, polyalanine, polyvaline, and polyphenylalanine to examine the contributions of different side chain motions to the polypeptide proton relaxation rate constants. The spin‐fracton theory for 1H relaxation is modified to account for high frequency motions of side chains that are dynamically connected to the linear polymer backbone. The 1H relaxation is dominated by propagation of rare disturbances along the backbone of the polymer. The side‐chain dynamics cause an off‐set in the field dependence of the 1H spin‐lattice relaxation rate constants which obey a power law in the Larmor frequency in the limit of low and high magnetic field strength. © 2007 Wiley Periodicals, Inc. Biopolymers 86: 148–154, 2007.This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
Methods for the characterization of Jet Propellent‐8: vapor and aerosol
Authors: Gregg S. D. , Campbell J. L. , Fisher J. W. , Bartlett M. G. 
Published: March 2007

AbstractJet Propellant‐8 (JP‐8) has been responsible for the majority of reported chemical exposures by the US Department of Defense. Concerns related to human exposure to JP‐8 are relatively new; therefore, there is a lack of literature data. Additionally, health effects related to the composition of the exposure have only recently been considered. Two major questions exist: (1) what is the compositional difference between the aerosol and vapor portions of JP‐8 under controlled conditions and (2) what is the most representative method to sample JP‐8 aerosol and vapor? Thirty‐seven standards, representing more than 40% of the mass of JP‐8, were used for characterization of the neat fuel, vapor and aerosol portions. JP‐8 vapor samples at a concentration of 1600 mg/m3 were prepared in Tedlar bags. A portion of the vapor samples was adsorbed on charcoal, Tenax and custom mixed phase sorbents. These samples were then extracted using organic solvent and analyzed using gas chromatography/mass spectrometry. The vapor samples extracted from the sorbent tubes were directly compared with a vapor bag. The samples collected using Tenax sorbent tubes were found to be most representative of the composition of the vapor bags. In another set of experiments, aerosolized JP‐8 was generated using a collision nebulizer. Aerosol samples were collected and the chemical composition was characterized. The entire aerosol distribution was collected on a glass filter, extracted into solvent, and analyzed by GC‐MS. Finally, the composition of the vapor and aerosol was compared. The vapor was found to represent the lower molecular weight components of JP‐8, while the aerosol was composed of higher molecular weight components. Therefore, the vapor and aerosol should be treated as two discrete forms of exposure to JP‐8. Copyright © 2007 John Wiley & Sons, Ltd.
Evaluation of GSH adducts of adrenaline in biological samples
Authors: Silva Renata , Boldt Sílvia , Costa Vera Marisa , Carmo Helena , Carvalho Márcia , Carvalho Félix , Bastos Maria de Lourdes , Lemos‐Amado Francisco , Remião Fernando 
Published: March 2007

AbstractThe sustained high release of catecholamines to circulation is a deleterious condition that may induce toxicity, which seems to be partially related to the products formed by oxidation of catecholamines that can be further conjugated with glutathione (GSH). The aim of the present study was to develop a method for the determination of GSH adducts of adrenaline in biological samples. Two position isomers of the glutathion‐S‐yl‐adrenaline were synthesized and characterized by HPLC using diode array, coulometric and mass detectors. A method for the extraction of these adducts from human plasma was also developed, based on adsorption to activated alumina, which showed adequate recoveries and proved to be crucial in removing interferences from plasma. The selectivity, precision and linearity of the method were all within the accepted values for these parameters. Furthermore, the sensitivity of this method allows the detection of adduct amounts that are within the range of the expected concentrations for these adducts under certain pathophysiological conditions and/or drug treatments. In conclusion, the development of this method allows the direct analysis of GSH adducts of adrenaline in human plasma, providing a valuable tool for the study of the catecholamine oxidation process and its related toxicity. Copyright © 2007 John Wiley & Sons, Ltd.
Ab initio Studies of the Electronic Structure of the Quaternary System LiBC4N4
Authors: Matar S. F. , Betranhandy E. , Nakhl M. 
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.
Crystal Structures and Photocatalysis of the Triclinic Polymorphs of BiNbO4 and BiTaO4.
Authors: Muktha B. , Darriet J. , Madras Giridhar , Row T. N Guru 
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.
UV—VUV‐Excited Photoluminescence of Ln‐Activated CaLaP3010 (Ln: Eu, Tb).
Authors: Wu Chunfang , Wang Yuhua , Liu Wenjing 
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.
19F High Magnetic Field NMR Study of β‐ZrF4 and CeF4: From Spectra Reconstruction to Correlation Between Fluorine Sites and 19F Isotropic Chemical Shifts.
Authors: Legein C. , et al. et al. 
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.
Ab initio Analysis of Sulfur Tolerance of Ni, Cu, and Ni—Cu Alloys for Solid Oxide Fuel Cells
Authors: Choi Y. M. , Compson Charles , Lin M. C. , Liu Meilin 
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.
La6(C2)3Cl4 and La8(C2)5Cl4: Sheets and Channels of La6(C2)‐Clusters.
Authors: Mattausch Hansjuergen , Hoch Constantin , Zheng Chong , Simon Arndt 
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.
First Enantioselective Organocatalytic Allylation of Simple Aldimines with Allyltrichlorosilane.
Authors: Jagtap Sunil B. , Tsogoeva Svetlana B. 
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.
Controllable [2 + 2] Cycloadditions of 1,5‐Bisallenyl‐Substituted Compounds.
Authors: Jiang Xuefeng , Cheng Xin , Ma Shengming 
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.
Regio‐ and Diastereoselective Ring‐Opening Reaction of Epoxides with Nitric Oxide.
Authors: Fan Yuan , Shang Xiaojie , Liu Zhongquan , Wu Longmin 
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.
Observations on the Reductive Ring Opening Reactions of Alkylidenecyclopropyl Ketones Promoted by Lithium in Liquid Ammonia.
Authors: Motherwell William B. , Zuberi Sheena 
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.
Chemoselective Hydrogenation Method Catalyzed by Pd/C Using Diphenylsulfide as a Reasonable Catalyst Poison.
Authors: Mori Akinori , Mizusaki Tomoteru , Miyakawa Yumi , Ohashi Eri , Haga Tomoko , Maegawa Tomohiro , Monguchi Yasunari , Sajiki Hironao 
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.
Novel Synthetic Methodologies. An Efficient, Rapid and Regioselective Nuclear Bromination of Aromatics and Heteroaromatics with NBS Using Sulfonic Acid Functionalized Silica as a Heterogeneous Recyclable Catalyst.
Authors: Das Biswanath , Venkateswarlu Katta , Krishnaiah Maddeboina , Holla Harish 
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.
Homocoupling of Terminal Alkynes to 1,4‐Disubstituted 1,3‐Diynes Promoted by Copper(I) Iodide and a Task Specific Ionic Liquid, [bmim]OH — A Green Procedure.
Authors: Ranu Brindaban C. , Banerjee Subhash 
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.
Palladated Kaiser Oxime Resin as Precatalyst for the Heck Reaction in Organic and Aqueous Media.
Authors: Alacid Emilio , Najera Carmen 
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.
A New Stable Hoveyda—Grubbs Catalyst with Mixed Anionic Ligands.
Authors: Vehlow Kati , Maechling Simon , Koehler Katrin , Blechert Siegfried 
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.
Palladium‐Catalyzed Carbonylation of 4‐Substituted 2‐Iodoaniline Derivatives: Carbonylative Cyclization and Aminocarbonylation.
Authors: Acs Peter , Mueller Ernoe , Rangits Gabor , Lorand Tamas , Kollar Laszlo 
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.
Chemoselective Thioacetalization Using 3‐(1,3‐Dithian‐2‐ylidene)pentane‐2,4‐dione as an Odorless and Efficient Propane‐1,3‐dithiol Equivalent under Solvent‐Free Conditions.
Authors: Ouyang Yan , Dong Dewen , Zheng Chunbai , Yu Haifeng , Liu Qun , Fu Zhenqian 
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.