bluuebunny/crossref_metadata_2025_split huggingface dataset:
Loss of N‐acetylglucosamine‐1‐phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics
Authors: Pohl Sandra , Encarnacão Marisa , Castrichini Monica , Müller‐Loennies Sven , Muschol Nicole , Braulke Thomas 
Published: December 2009

AbstractMucolipidosis type III gamma (MLIII, pseudo‐Hurler polydystrophy) is a rare autosomal recessive disorder where the activity of the multimeric GlcNAc‐1–phosphotransferase is reduced and formation of the mannose 6‐phosphate (M6P) recognition marker on lysosomal enzymes is impaired. In this disease, the targeting of lysosomal enzymes is affected resulting in their hypersecretion, and an intracellular deficiency of multiple hydrolases. We report the biochemical and molecular diagnosis of MLIII in three siblings, aged 17, 15, and 14 years, who presented with joint pain and progressive joint stiffness. In addition to missorting of newly synthesized lysosomal protease cathepsin D, there were low levels of M6P‐containing proteins in cell extracts and media of cultured fibroblasts of the Patients. Direct sequencing identified a novel homozygous mutation in intron 7, IVS7‐10G>A, of the GNPTG gene, which encodes the γ‐subunit of the GlcNAc‐1–phosphotransferase. This mutation created a cryptic 3′‐splice site resulting in a frameshift and premature translational termination (p.V176GfsX18). The GNPTG mRNA levels were markedly reduced in Patients' fibroblasts indicating that the intronic mutation mediates mRNA decay, which was confirmed by absence of the γ‐subunit protein. These data contribute to an efficient diagnostic strategy to identify Patients with MLIII gamma and characterize their biochemical defect in fibroblasts. © 2009 Wiley‐Liss, Inc.
Various types of LRP5 mutations in four patients with osteoporosis‐pseudoglioma syndrome: Identification of a 7.2‐kb microdeletion using oligonucleotide tiling microarray
Authors: Narumi Satoshi , Numakura Chikahiko , Shiihara Takashi , Seiwa Chizuru , Nozaki Yasuyuki , Yamagata Takanori , Momoi Mariko Y. , Watanabe Yoriko , Yoshino Makoto , Matsuishi Toyojiro , Nishi Eriko , Kawame Hiroshi , Akahane Tsutomu , Nishimura Gen , Emi Mitsuru , Hasegawa Tomonobu 
Published: December 2009

AbstractOsteoporosis‐pseudoglioma syndrome (OPS; OMIM 259770) is an autosomal‐recessive genetic disorder characterized by severe osteoporosis and visual disturbance from childhood. Biallelic mutations in the low‐density lipoprotein receptor‐related protein 5 gene (LRP5) have been frequently detected, while a subset of patients had only one or no detectable mutation. We report on the clinical and molecular findings of four unrelated Japanese patients with the syndrome. The four patients had typical skeletal and ocular phenotypes of OPS, namely severe juvenile osteoporosis and early‐onset visual disturbance, with or without mental retardation. We undertook standard PCR‐based sequencing for LRP5 and found four missense mutations (p.L145F, p.T244M, p.P382L, and p.T552M), one nonsense mutation (p.R1534X), and one splice site mutation (c.1584+1G>A) among four OPS patients. Although three patients had two heterozygous mutations, one had only one heterozygous splice site mutation. In this patient, RT‐PCR from lymphocytic RNA demonstrated splice error resulting in 63‐bp insertion between exons 7 and 8. Furthermore, the patient was found to have only mutated RT‐PCR fragment, implying that a seemingly normal allele did not express LRP5 mRNA. We then conducted custom‐ designed oligonucleotide tiling microarray analyses targeted to a 600‐kb genome region harboring LRP5 and discovered a 7.2‐kb microdeletion encompassing exons 22 and 23 of LRP5. We found various types of LRP5 mutations, including an exon‐level deletion that is undetectable by standard PCR‐based mutation screening. Oligonucleotide tiling microarray seems to be a powerful tool in identifying cryptic structural mutations. © 2009 Wiley‐Liss, Inc.
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
Authors: Abaied L. , Trabelsi M. , Chaabouni M. , Kharrat M. , Kraoua L. , M'rad R. , Tebib N. , Maazoul F. , Chaabouni H. 
Published: December 2009

AbstractWe identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is non‐functional since the mutation implies the catalytic region of the enzyme. The family includes 14 affected patients born from four sisters. This mutation was found in all surviving affected individuals and their mothers pointing out the importance of genetic counseling possibility in Angelman syndrome (AS). All patients had severe mental retardation with epilepsy and microcephaly. Minor clinical expression variation was observed among the investigated patients. The severity of clinical expression is related to the detected molecular variation: deletion of 15 bp and insertion of 7 bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein. © 2009 Wiley‐Liss, Inc.
Brief communication: Patterns of linkage disequilibrium and haplotype diversity at Xq13 in six Native American populations
Authors: Wang Sijia , Bedoya Gabriel , Labuda Damian , Ruiz‐Linares Andres 
Published: December 2009

AbstractComparative studies of linkage disequilibrium (LD) can provide insights into human demographic history. Here, we characterize LD in six Native American populations using seven microsatellite markers in Xq13, a region of the genome extensively studied in populations around the world. Native Americans show relatively low diversity and high LD, in agreement with recent genome‐wide survey and a scenario of sequential founder effects accompanying human population dispersal around the globe. LD in Native Americans is similar to that observed in some recently described small population isolates and higher than in large European isolates (e.g., Finns), which have been extensively analyzed in medical genetics studies. Haplotype analyses are consistent with a colonization of the New World by a differentiated East Asian population, followed by extensive genetic drift in the Americas. Am J Phys Anthropol, 2010. © 2009 Wiley‐Liss, Inc.
Prehistorical East–West admixture of maternal lineages in a 2,500‐year‐old population in Xinjiang
Authors: Zhang Fan , Xu Zhi , Tan Jingze , Sun Yuefeng , Xu Bosong , Li Shilin , Zhao Xin , Zhou Hui , Gong Guoqiang , Zhang Jun , Jin Li 
Published: December 2009

AbstractAs an area of contact between Asia and Europe, Central Asia witnessed a scenario of complex cultural developments, extensive migratory movements, and biological admixture between West and East Eurasians. However, the detanglement of this complexity of diversity requires an understanding of prehistoric contacts of the people from the West and the East on the Eurasia continent. We demonstrated the presence of genetic admixture of West and East in a population of 35 inhabitants excavated in Gavaerk in southern Xinjiang and dated 2,800–2,100 years before present by analyzing their mitochondrial DNA variations. This result indicates that the initial contact of the East and the West Eurasians occurred further east than Central Asia as early as 2,500 years ago. Am J Phys Anthropol, 2010. © 2009 Wiley‐Liss, Inc.
Brief communication: Captive gorillas are right‐handed for bimanual feeding
Authors: Meguerditchian Adrien , Calcutt Sarah E. , Lonsdorf Elizabeth V. , Ross Stephen R. , Hopkins William D. 
Published: December 2009

AbstractPredominance of right‐handedness has historically been considered as a hallmark of human evolution. Whether nonhuman primates exhibit population‐level manual bias remains a controversial topic. Here, we investigated the hypothesis that bimanual coordinated activities may be a key‐behavior in our ancestors for the emergence and evolution of human population‐level right‐handedness. To this end, we collected data on hand preferences in 35 captive gorillas (Gorilla gorilla) during simple unimanual reaching and for bimanual coordinated feeding. Unimanual reaching consisted of grasping food on the ground, while bimanual feeding consisted of using one hand for holding a food and processing the food item by the opposite hand. No population‐level manual bias was found for unimanual actions but, in contrast, gorillas exhibited a significant population‐level right‐handedness for the bimanual actions. Moreover, the degree of right‐handedness for bimanual feeding exceeds any other known reports of hand use in primates, suggesting that lateralization for bimanual feeding is robust in captive gorillas. The collective evidence is discussed in the context of potential continuity of handedness between human and nonhuman primates. Am J Phys Anthropol 2010. © 2009 Wiley‐Liss, Inc.
Dopamine‐dependent motor learning: Insight into levodopa's long‐duration response
Authors: Beeler Jeff A. , Cao Zhen Fang Huang , Kheirbek Mazen A. , Ding Yunmin , Koranda Jessica , Murakami Mari , Kang Un Jung , Zhuang Xiaoxi 
Published: December 2009

AbstractObjectiveDopamine (DA) is critical for motor performance, motor learning, and corticostriatal plasticity. The relationship between motor performance and learning, and the role of DA in the mediation of them, however, remain unclear.MethodsTo examine this question, we took advantage of PITx3‐deficient mice (aphakia mice), in which DA in the dorsal striatum is reduced by 90%. PITx3‐deficient mice do not display obvious motor deficits in their home cage, but are impaired in motor tasks that require new motor skills. We used the accelerating rotarod as a motor learning task.ResultsWe show that the deficiency in motor skill learning in PITx3(−/−) is dramatic and can be rescued with levodopa treatment. In addition, cessation of levodopa treatment after acquisition of the motor skill does not result in an immediate drop in performance. Instead, there is a gradual decline of performance that lasts for a few days, which is not related to levodopa pharmacokinetics. We show that this gradual decline is dependent on the retesting experience.InterpretationThis observation resembles the long‐duration response to levodopa therapy in its slow buildup of improvement after the initiation of therapy and gradual degradation. We hypothesize that motor learning may play a significant, underappreciated role in the symptomatology of Parkinson disease as well as in the therapeutic effects of levodopa. We suggest that the important, yet enigmatic long‐duration response to chronic levodopa treatment is a manifestation of rescued motor learning. ANN NEUROL 2010;67:639–647
Effect of apolipoprotein E on biomarkers of amyloid load and neuronal pathology in Alzheimer disease
Authors: Vemuri Prashanthi , Wiste Heather J. , Weigand Stephen D. , Knopman David S. , Shaw Leslie M. , Trojanowski John Q. , Aisen Paul S. , Weiner Michael , Petersen Ronald C. , Jack Clifford R. ,   Alzheimer's Disease Neuroimaging Initiative
Published: December 2009

AbstractObjectiveTo study the effect of apolipoprotein E ϵ4 status on biomarkers of neurodegeneration (atrophy on magnetic resonance imaging [MRI]), neuronal injury (cerebrospinal fluid [CSF] t‐tau), and brain Aβ amyloid load (CSF Aβ1–42) in cognitively normal subjects (CN), amnestic subjects with mild cognitive impairment (aMCI), and patients with Alzheimer disease (AD).MethodsWe included all 399 subjects (109 CN, 192 aMCI, 98 AD) from the Alzheimer's Disease Neuroimaging Initiative study with baseline CSF and MRI scans. Structural Abnormality Index (STAND) scores, which reflect the degree of AD‐like anatomic features on MRI, were computed for each subject.ResultsA clear ϵ4 allele dose effect was seen on CSF Aβ1–42 levels within each clinical group. In addition, the proportion of the variability in Aβ1–42 levels explained by APOE ϵ4 dose was significantly greater than the proportion of the variability explained by clinical diagnosis. On the other hand, the proportion of the variability in CSF t‐tau and MRI atrophy explained by clinical diagnosis was greater than the proportion of the variability explained by APOE ϵ4 dose; however, this effect was only significant for STAND scores.InterpretationLow CSF Aβ1–42 (surrogate for Aβ amyloid load) is more closely linked to the presence of APOE ϵ4 than to clinical status. In contrast, MRI atrophy (surrogate for neurodegeneration) is closely linked with cognitive impairment, whereas its association with APOE ϵ4 is weaker. The data in this paper support a model of AD in which CSF Aβ1–42 is the earliest of the 3 biomarkers examined to become abnormal in both APOE carriers and noncarriers. ANN NEUROL 2010;67:308–316
Covalent functionalization of multiwalled carbon nanotubes with polybutadiene
Authors: Chen Hongbiao , Xiong Hua , Gao Yong , Li Huaming 
Published: December 2009

AbstractCovalent functionalization of multiwalled carbon nanotubes (MWNTs) with polybutadiene was accomplished by coupling of isocyanate‐decorated MWNTs with hydroxyl‐terminated polybutadiene (HTPB) in dry toluene. The MWNT precursor, isocyanate‐functionalized MWNTs, was prepared by directly reacting commercial hydroxyl functionalized MWNTs with excess toluene 2,4‐diisocyanate (TDI). HTPBs with different molecular weights (Mn = 1900, 2600, and 3600 g/mol) were subjected to this coupling reaction, resulting in the formation of polymer functionalized MWNTs. FTIR spectroscopy was utilized to follow the introduction and consumption of isocyanate groups on the MWNTs. Thermogravimetric analysis (TGA) indicated that HTPB was successfully grafted onto MWNT surface, with the final products having a polymer weight percentage of around 30 wt %. Transmission electron microscopy (TEM) was utilized to image the polymer functionalized MWNTs, showing relatively uniform polymer coatings presented on the surface of MWNTs. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Preparation and properties of polyurethane/benzyl amylose semi‐interpenetrating networks
Authors: Cao Xiaodong , Tao Yongzhen , Lucia Lucian A. , Zhang Lina 
Published: December 2009

AbstractA series of semi‐interpenetrating polymer networks (semi‐IPNs) films were prepared from 20 wt % of benzyl amylose (BA) of different Mw and castor oil‐based polyurethane (PU) in N,N‐dimethylformamide (DMF). The weight‐average molecular weight (Mw), and radii of gyration (<S2>z1/2) of benzyl amylose were determined by laser scattering measurement, and the results suggested BA was in a compact coil conformation in DMF. Furthermore, the properties and miscibility of the polyurethane/benzyl amylose (PUBA) films were studied by scanning electronic microscopy, differential scanning calorimetry, dynamic mechanical thermal analysis, ultraviolet–visible spectrophotometer, and tensile testing. The PUBA films possessed much higher optical transmittance and tensile strength than the pure PU film regardless of the molecular weight of BA, but lower values of elongation at break were observed. With decreasing of the BA Mw from 9.24 × 105 to 2.69 × 105, interestingly, the elongation at break of the films increased from 135 to 326%. This might be ascribed to the decrease of crosslinking density of PU networks and the enhancement in freedom of the molecular motion. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
The surface modification of medical polyurethane to improve the hydrophilicity and lubricity: The effect of pretreatment
Authors: Zhou Xuefeng , Zhang Tianzhu , Jiang Xiaoli , Gu Ning 
Published: December 2009

AbstractThe medical polyurethane (PU) film was grafted with poly(acrylic acid) (PAA) to improve the hydrophilic and lubricious properties. The influences of pretreatment by ozone or potassium peroxydisulfate on themorphologies of PU films and grafting results were systematically investigated. The grafted PU films were characterized using attenuated total reflection Fourier transformed infrared spectroscopy (ATR‐FTIR), scanning electron microscopy (SEM), atomic force microscopy (AFM) and gel permeation chromatography (GPC). The hydrophilic and lubricious properties were evaluated by water contact angle and friction coefficient, respectively. The results showed that PAA could be grafted firmly on PU activated by both ozone and potassium peroxydisulfate, and the PAA‐grafted PU showed good hydrophilic and lubricious performance. More importantly, the PAA‐grafted PU films with the pretreatment of ozone were better in surface roughness, hydrophilicty and lubricity, compared to those with the pretreatment of potassium peroxydisulfate. Hence, surface ozonation could be a better choice for the pretreatment of medical polymer. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Performance of fibers embedded in a cementitious matrix
Authors: Pakravan H. R. , Jamshidi M. , Latifi M. 
Published: December 2009

AbstractReinforcement of cementitious materials with short fibers has been proved to be an economical and effective way to convert these brittle materials to ductile products. Many fibers with different geometries have been used as reinforcement materials. Fibers bonding to cementitious materials play an important role in mechanical performance of these composites. This article describes the performance of (homemade) fibers as reinforcement in cement‐based materials by investigation on bonding characteristic of fiber to cement matrix. To this end, the fibers (glass, polypropylene, polyacrylonitrile (PAN), and high strength nylon 66 (N66)) are characterized using microscopy analysis, tensile strength, and alkali attack tests. The fibers embedded in the cement matrix, then, pulled‐out to evaluate their bonding to cementitious materials. SEM analysis is used to study fiber/cement interfacial transition zone. The results show that PAN fibers have the advantages of preparing for cementitious reinforcement. It was found that the reinforcing efficiency of fibers‐reinforced cementitious composites was strongly depending on interfacial contact area in fiber/matrix interface and chemical/physical properties of fibers. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Effect of crystallinity on enthalpy recovery peaks and cold‐crystallization peaks in PET via TMDSC and DMA studies
Authors: Shieh Yeong‐Tarng , Lin Yu‐Sheng , Twu Yawo‐Kuo , Tsai Hong‐Bing , Lin Rong‐Hsien 
Published: December 2009

AbstractPoly(ethylene terephthalate) (PET) sheets of different crystallinity were obtained by annealing the amorphous PET (aPET) sheets at 110°C for various times. The peaks of enthalpy recovery and double cold‐crystallization in the annealed aPET samples with different crystallinity were investigated by a temperature‐modulated differential scanning calorimeter (TMDSC) and a dynamic mechanical analyzer (DMA). The enthalpy recovery peak around the glass transition temperature was pronounced in TMDSC nonreversing heat flow curves and was found to shift to higher temperatures with higher degrees of crystallinity. The magnitudes of the enthalpy recovery peaks were found to increase with annealing times for samples annealed ≤30 min but to decrease with annealing times for samples annealed ≥40 min. The nonreversing curves also found that the samples annealed short times (≤40 min) having low crystallinity exhibited double cold‐crystallization peaks (or a major peak with a shoulder) in the region of 108–130°C. For samples annealed long times (≥50 min), the cold‐crystallization peaks were reduced to one small peak or disappeared because of high crystallinity in these samples. The double cold‐crystallization exotherms in samples of low crystallinity could be attributed to the superposition of the melting of crystals, formed by the annealing pretreatments, and the cold‐crystallizations occurring during TMDSC heating. The ongoing crystallization after the cold crystallization was clearly seen in the TMDSC nonreversing heat flow curves. DMA data agreed with TMDSC data on the origin of the double cold‐crystallization peaks. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
Zur Ermittlung der Verformungen von Stahlbetonbauteilen im Grenzzustand der Gebrauchstauglichkeit
Authors: Duţulescu Eugen 
Published: December 2009

AbstractIn Beton‐ und Stahlbetonbau 104, Heft 8, wurden die für die Ermittlung der Verformungen von Stahlbetonbauteilen benötigte Normalkraft‐mittlere Dehnungslinie, bzw. Biegemoment‐mittlere Krümmungslinie erläutert. Ein Rechenmodell und ein dazugehöriges Näherungsverfahren sowie deren praktische Anwendungen werden hier vorgestellt. Abschließend wird ein Vorgehen zur Vordimensionierung mit begleitenden Hilfsmitteln dargestellt.About the Calculation of Displacements of Reinforced Concrete Members in the Servicebility Limit StateIn Beton‐ und Stahlbetonbau 104, issue 8, the determination of axial tensile force – average strain, respectively bending moment – average curvature diagrams, in order to calculate the displacements of reinforced concrete members, were explained. A calculation model for the deformations, an approximation of it, and their practical applications are explained. Finally, a method for preliminary dimensioning with accompanying diagrams and tables is presented.
Erhöhung der Verbundtragfähigkeit von aufgeklebten CFK‐ oder Stahl‐Lamellen auf Stahlbetonkonstruktionen durch Bügelumschließungen
Authors: Husemann Ulf , Budelmann Harald 
Published: December 2009

AbstractBei Bauteilverstärkungen mit CFK‐Lamellen ist nach geltender Zulassung das Lamellenende durch eine äußere Umschließung durch Stahlbügel oder CF‐Gelege gegen eine Lamellenentkopplung (LEK) zu sichern. Durch die Entkopplungsbehinderung der Umschließung wird bei beginnender LEK ein passiver (selbstinduzierter) Anpressdruck aufgebaut, der eine traglaststeigernde Wirkung hat. In einem durch die DFG geförderten Forschungsvorhaben wurde die Traglaststeigerung durch unterschiedliche Umschließungsmaterialien und ‐geometrien untersucht und beschrieben sowie für die Bemessung ein Ingenieurmodell entwickelt. Anders als bei einbetonierter Bewehrung tritt bei einer Lamellenentkopplung sowohl eine Längs‐ als auch eine Querverschiebung der Lamelle auf, verursacht durch die anhaftenden Zuschlagskörner in der Klebstofffuge. Wird die abhebende Verschiebung der Lamelle durch Umschließungsbügel behindert, baut sich der passive Anpressdruck auf, was zu einer Steigerung der Lamellenzugkraft infolge der erhöhten Reibung im Riss führt. Es konnte ein direkter Zusammenhang zwischen dem Anpressdruck FAPund der Lamellenzugkraft Flgefunden und abgebildet werden.Increase of the Bond Capacitiy of Externally Bonded CFRPor Steel‐plates on RC‐Structures as the Result of External EnclosuresStrengthening of concrete structures with externally bonded CFRP‐ or steel‐plates has become a well established strengthening method in many countries. In Germany building authority approvals demand that the end of a plate has to be provided by a glued external enclosure. Glued enclosures are primarily needed in order to increase the shear force capacity of a RC member. It is known, that a transverse enclosure of longitudinal CFRP‐plates has a positive effect on the buckling load of the latter, which is yet completely unknown. The aim of this work is to assess the increase of the buckling load caused by the enclosure. In the paper the dependency between the so‐called self‐induced contact pressure of an external enclosure with steel frames or laminated carbon fiber sheets and the longitudinal force of the CFRP‐ or steel‐plate is shown. The self‐induced contact pressure is the result of the vertical lifting of the plate towards the external enclosure due to the beginning of plate's debonding process. The test results show, that the increase of the plate‐force depends on the type and size of the external enclosure. In some tests up to twice of the ultimate load was optained. An engineering model is presented to take into consideration the effect for dimensioning.