bluuebunny/crossref_metadata_2025_split huggingface dataset:
An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p
Authors: Boutry‐Kryza Nadia , Labalme Audrey , Till Marianne , Schluth‐Bolard Caroline , Langue Jacques , Turleau Catherine , Edery Patrick , Sanlaville Damien 
Published: December 2011

AbstractWe report on clinical and cytogenetic studies in a 7‐year‐old child with moderate intellectual disability, short stature, mild dysmorphism, and hearing loss. R‐chromosome banding showed a de novo autosomal marker originating from the 17p chromosome segment in all cells analyzed. Array comparative genome hybridization (aCGH) was used to determine the gene content and proximal and distal breakpoints of the small supernumerary marker chromosome (SMC). These breakpoints mapped to the centromere of chromosome 17 and the 17p11.2 region, respectively. Unexpectedly, aCGH analysis also revealed a de novo deletion of 800 kb encompassing six genes in the 17q23.2 region, including MED13 (also known as THRAP1). We compared our patient with other reported cases of SMC(17), to determine the respective contributions of the duplication and the deletion to the phenotype. We cannot entirely exclude a minor role for the SMC(17), but we suggest that MED13 haploinsufficiency was responsible for the phenotype of the patient particularly the cataract, hearing loss and semicircular canal dysplasia. Moreover, this report highlights the usefulness of aCGH for the specification of gene content in cases of abnormality, facilitating the establishment of accurate phenotype–genotype correlations and the detection of other, complex rearrangements. © 2011 Wiley Periodicals, Inc.
Evaluation of conserved and ultra‐conserved non‐genic sequences in chromosome 15q15‐linked periodic catatonia
Authors: Schanze Denny , Ekici Arif B. , Pfuhlmann Bruno , Reis André , Stöber Gerald 
Published: December 2011

AbstractConserved and ultra‐conserved non‐genic sequence elements (CNGs, UCEs) between human and other mammalian genomes seem to constitute a heterogeneous group of functional sequences which likely have important biological function. To determine whether variation in CNGs and UCEs contributes to risk for the schizophrenic subphenotype of periodic catatonia (according to K. Leonhard; OMIM 605419), we evaluated non‐coding elements at a critical 7.35 Mb interval on chromosome 15q15 in 8 unrelated cases with periodic catatonia (derived from pedigrees compatible with linkage to chromosome 15q15) and 8 controls, followed by association studies in a cohort of 510 cases and controls. Among 65 CNGs (≥100 bp, 100% identity; human‐mouse comparison), 7 CNGs matched criteria for UCE (≥200 bp, 100% identity). A hot spot of 62/65 CNGs (95%) appeared at the MEIS2 locus, which implicates functional importance of associated (ultra‐)conserved elements to this early developmental gene, which is present in the human fetal neocortex and associated with metabolic side effects to antipsychotic drugs. Further CNGs were identified at the PLCB2 and DLL4 locus or located intergenic between TYRO3 and MAPKBP1. Automated sequencing revealed genetic variation in 12.3% of CNGs, but frequencies were low (MAF: 0.06–0.4) in cases. Three variants located inside CNGs/UCEs were found in cases only. In a case–control association study we could not confirm a significant association of these three CNG‐variants with periodic catatonia. Our results suggest genetic variation in (ultra‐)conserved non‐genic sequence elements which might alter functional properties. The identified variants are genetically not associated with the phenotype of periodic catatonia. © 2011 Wiley Periodicals, Inc.
SNP variants within the vanilloidTRPV1andTRPV3receptor genes are associated with migraine in the Spanish population
Authors: Carreño Oriel , Corominas Roser , Fernández‐Morales Jessica , Camiña Montserrat , Sobrido María‐Jesús , Fernández‐Fernández José Manuel , Pozo‐Rosich Patricia , Cormand Bru , Macaya Alfons 
Published: December 2011

AbstractThe transient receptor potential (TRP) superfamily of non‐selective cationic channels are involved in several processes plausibly relevant to migraine pathophysiology, including multimodal sensory and pain perception, central and peripheral sensitization, and regulation of calcium homeostasis. With the aim of identifying single nucleotide polymorphisms (SNPs) in TRP genes that may confer increased genetic susceptibility to migraine, we carried out a case–control genetic association study with replication, including a total of 1,040 cases and 1,037 controls. We genotyped 149 SNPs covering 14 TRP genes with known brain expression. The two‐stage study comprised samples of 555 and 485 Spanish, Caucasian patients, selected according to the ICHD‐II criteria for the diagnosis of migraine without aura (MO) or migraine with aura (MA). In the discovery sample, 19 SNPs in ten TRP genes showed nominal association (P < 0.05) with MO, MA, or overall migraine. In the replication sample, nominal association was confirmed for TRPV3 rs7217270 in MA and TRPV1 rs222741 in the overall migraine group. Risk haplotypes were identified for seven of the genes showing nominal association in the discovery set, but none of them was replicated. The present findings suggest that members of the vanilloid TRPV subfamily of receptors contribute to the genetic susceptibility to migraine in the Spanish population. © 2011 Wiley Periodicals, Inc.
Study of a possible role of the monoamine oxidase A (MAOA) gene in paranoid schizophrenia among a Chinese population
Authors: Sun Yuhui , Zhang Jiexu , Yuan Yanbo , Yu Xin , Shen Yan , Xu Qi 
Published: December 2011

AbstractMonoamine oxidase A (MAOA) is the enzyme responsible for degradation of several monoamines, such as dopamine and serotonin that are considered as being two of the most important neurotransmitters involved in the pathophysiology of schizophrenia. To study a possible role of the MAOA gene in conferring susceptibility to schizophrenia, the present study genotyped the variable number of tandem repeat (VNTR) polymorphism and 41 SNPs across this gene among 555 unrelated patients with paranoid schizophrenia and 567 unrelated healthy controls. Quantitative real‐time PCR analysis was employed to quantify expression of MAOA mRNA in 73 drug‐free patients. While none of these genotyped DNA markers showed allelic association with paranoid schizophrenia, haplotypic association was found for the VNTR‐rs6323, VNTR‐rs1137070, and VNTR‐rs6323‐rs1137070 haplotypes in female subjects. Nevertheless, no significant change of the expression of MAOA mRNA was detected in either female or male patients with paranoid schizophrenia. Our study suggests that the interaction between genetic variants within the MAOA gene may contribute to an increased risk of paranoid schizophrenia, but the precise mechanism needs further investigation. © 2011 Wiley Periodicals, Inc.
Antibacterial properties of additives used in injection immunotherapy
Authors: Gilbert Kevin C. , Sundareshan Vidya , Bass Richard M. , Lin Sandra Y. 
Published: December 2011

AbstractBackground:Previous studies have reviewed the safety of preparing and administering allergy injection immunotherapy in a physician's office, and showed no evidence of infectious complications. The current study examines the antimicrobial properties of the common additives used in preparation of multidose immunotherapy vials.Methods:Vials were prepared with varying concentrations of glycerin (0‐25%), phenol (0‐0.4%) and combinations of glycerin with phenol. A standard inoculum of Staphylococcus aureus was introduced in each vial and incubated. Optical densities were measured and colony counts were performed at 24 and 48 hours. Follow‐up broth microdilution assays were performed using varying inocula of bacteria and the highest concentrations of additives to determine the number of bacteria for which these solutions were bacteriostatic and/or bactericidal. Optical densities were measured and colony counts were performed as in the vial assays.Results:All vials with varying dilutions of glycerin, phenol, and their combination showed bacterial growth with the standard inoculum of Staphylococcus aureus. Visible turbidity and optical density were inversely related to additive concentration. Follow‐up microdilution assays with differing concentrations of bacteria demonstrated bactericidal activity with inocula of 1×103 colony forming units (CFU) of Staphylococcus aureus at clinically used concentrations of glycerin and phenol.Conclusion:Higher concentrations of additives show better inhibition of bacterial growth. Solutions containing glycerin showed superior bactericidal activity than those containing only phenol. At concentrations of additives used in preparing allergy immunotherapy vials, antibacterial effects were observed with inoculation of 1×103 CFU or less of Staphylococcus aureus. © 2011 ARS‐AAOA, LLC.
DNA‐Origami: die Kunst, DNA zu falten
Authors: Saccà Barbara , Niemeyer Christof M. 
Published: December 2011

AbstractDie Einführung der DNA‐Origami‐Technik hat den Entwurf und die Herstellung von nanoskaligen DNA‐Objekten stark vereinfacht. Die Selbstorganisation eines DNA‐Origamis ist ein Prozess, durch den ein langes, zirkuläres DNA‐Einzelstrangmolekül (häufig aus dem Phagen M13mp18) unter Verwendung einer Vielzahl von kurzen Helfersträngen in praktisch jede gewünschte Form gefaltet werden kann. Dieser Ansatz ermöglicht die problemlose Herstellung von Objekten mit einer adressierbaren Oberfläche von der Größe einiger tausend Quadratnanometer. Dies entspricht einer “Pixel”‐Auflösung von etwa 6 nm. Gleichzeitig ist der Herstellungsprozess schnell, stellt keine hohen Anforderungen an die experimentellen Bedingungen und führt zu einer hohen Ausbeute der gewünschten Struktur. Diese Eigenschaften machen die DNA‐Origami‐Technik in der strukturellen DNA‐Nanotechnologie zur Methode der Wahl, wenn zwei‐ und dreidimensionale DNA‐Objekte hergestellt werden sollen. In diesem Kurzaufsatz werden die jüngsten Fortschritte bei der Entwicklung von DNA‐Origami‐Strukturen zusammengefasst, die zahlreiche interessante Anwendungsmöglichkeiten eröffnen.
Properties of phenol‐formaldehyde resins prepared from phenol‐liquefied lignin
Authors: Lee Wen‐Jau , Chang Kuo‐Chun , Tseng I‐Min 
Published: December 2011

AbstractIn this study, alkaline lignin (AL), dealkaline lignin (DAL), and lignin sulfonate (SL) were liquefied in phenol with sulfuric acid (H2SO4) or hydrochloric acid (HCl) as the catalyst. The phenol‐liquefied lignins were used as raw materials to prepare resol‐type phenol‐formaldehyde resins (PF) by reacting with formalin under alkaline conditions. The results show that phenol‐liquefied lignin‐based PF resins had shorter gel time at 135°C and had lower exothermic peak temperature during DSC heat‐scanning than that of normal PF resin. The thermo‐degradation of cured phenol‐liquefied lignin‐based PF resins was divided into four temperature regions, similar to the normal PF resin. When phenol‐liquefied lignin‐based PF resins were used for manufacturing plywood, most of them had the dry, warm water soaked, and repetitive boiling water soaked bonding strength fitting in the request of CNS 1349 standard for Type 1 plywood. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
The effect of maleic anhydride grafting efficiency on the flexural properties of polyethylene composites
Authors: Gunning M. A. , Istrate O. M. , Geever L. M. , Lyons J. G. , Blackie P. , Chen B. , Higginbotham C. L. 
Published: December 2011

AbstractMany authors have reported on the property enhancements possible by compounding high density polyethylene (HDPE) with fillers to produce composites. It is accepted that polyethylene combined with materials such as nanoclay or wood flour will not yield favorable properties unless a compatibilizing material is used to form a link. In this work, compatibilized HDPE was produced by grafting maleic anhydride (MA) to its backbone in a twin screw extruder using a peroxide initiated reactive process. Fourier transform infrared spectroscopy (FTIR) was used to examine the effects of varying peroxide and MA levels on the grafting percentage and it was found that a high percentage could be achieved. The gel content of each HDPE‐g‐MA batch was determined and twin bore rheometry analysis was carried out to examine the effects of crosslinking and MA grafting on the melt viscosity. These HDPE‐g‐MA compatibilizers were subsequently compounded with nanoclay and wood flour to produce composites. The composite materials were tested using a three point bending apparatus to determine the flexural modulus and strength and were shown to have favorable mechanical properties when compared with composites containing no compatibilizer. X‐ray diffraction (XRD) was used to examine the effects of grafted MA content on the intercalation and exfoliation levels of nanoclay composites. The results from XRD scans showed that increased intercalation in polymer nanoclay composites was achieved by increasing the grafted MA content. This was confirmed using a scanning electron microscope, where images produced showed increased levels of dispersion and reductions in nanoclay agglomerates. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Development of fibrillar morphology in immiscible PP/PS blends under shear flow
Authors: Mei Yuan , Huang Yajiang , He Yusong , Yang Qi 
Published: December 2011

AbstractThe formation dynamics of fibrillar morphology in dilute immiscible polypropylene (PP)/polystyrene blends under simple shear flow is investigated using optical‐shear technique. Two strategies in generating fibrillar droplets under shear flow, namely temperature quench and shear jump, are studied. It is found that the shear‐induced deformation of PP droplets is closely related to the total shear strain and changes of rheological properties of components during the temperature quench or shear‐jump process. The shape evolution of fibrillar droplets under shear flow displays large deviation to the prediction of affine deformation theory based on Newtonian fluids and that of three deformation models, which consider the viscoelastic properties of components. The possible effect of droplet coalescence, breakup, and interfacial slip on the deviation between the experimental data and the prediction values for droplet deformation are discussed. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Dielectric properties and structures of melt‐compounded poly(ethylene oxide)–montmorillonite nanocomposites
Authors: Choudhary Shobhna , Sengwa R. J. 
Published: December 2011

AbstractThe dielectric dispersion and relaxation process in melt‐compounded hot‐pressed poly(ethylene oxide) (PEO)–montmorillonite (MMT) clay nanocomposite films of 0–20 wt % MMT concentration were investigated over the frequency range 20 Hz to 1 MHz at ambient temperature. X‐ray diffraction study of the nanocomposites evidences that the PEO has been intercalated into the MMT interlayer galleries with a helical‐type multilayer structures, which results the formation of unique parallel plane PEO–MMT layered structures. The relaxation times corresponding to PEO chain segmental motion were determined from the loss peak frequencies of different dielectric formalisms and the same is used to explore the interactions compatibility between PEO molecules and the MMT nano platelets. It is revealed that the loading of only 1 wt % MMT in PEO matrix significantly increases the PEO chain segmental motion due to intercalation, which further varies anomalously with increase of MMT concentration. The real part of dielectric function at 1 MHz, relaxation time, and dc conductivity of these melt‐compounded nanocomposites were compared with the aqueous solution‐cast PEO–MMT films. Considering the comparative changes in the values of various dielectric parameters, the effect of synthesization route on the intercalated/exfoliated‐MMT structures and the PEO chain dynamics were discussed. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Preparation of epoxy functionalized PP with unique structure and its post‐ring open reaction
Authors: Wang Shuangshuang , Shao Lu , Song Zhiqiang , Zhao Jiruo , Feng Ying 
Published: December 2011

AbstractThis article discusses a convenient chemical approach named in situ chlorination graft copolymerization (ISCGC) to prepare epoxy functionalized isotactic polypropylene (iPP) with a unique structure. This method was carried out in the gas‐solid state, and chlorine was used as radical initiator as well as terminate agent. The effect of influence factors on the structure of the functionalized PP was investigated, and it was determined by levels of grafted GMA moieties. The results showed that PP modified with GMA could obtain higher grafting level. Crystallinity and mechanical properties of the functionalized PP were also investigated. For the purpose of researching the reactivity of epoxy groups located at the grafted side chains, trichloroacetic acid and hydroxyl‐terminated butadiene–acrylonitrile rubber (HTBN) were used as models to explore the ring open reaction of the epoxy groups of the functionalized PP. The structure and property of the modified PP that has undergone post‐ring open reaction was characterized by FTIR, dynamic property analysis. The results indicated that epoxy groups of the graft side chains have successfully undergone ring open reaction in the presence of carbonyl and hydroxyl groups. Additionally, the compatibilization of PP with HTBN is enhanced after PP was modified by GMA. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Laminar Expression of Ephrin‐A2 in Primary Somatosensory Cortex of Postnatal Rats
Authors: Kenmuir Cynthia L. , Chiaia Nicolas L. , Lane Richard D. , Mooney Richard D. 
Published: December 2011

AbstractSeveral Eph receptors, prominently EphA4 and EphA7, and their corresponding ligands are known to influence neocortical development, including topographic sorting of thalamocortical axons within primary somatosensory cortex (SI). This study investigated postnatal expression of a ligand that can bind to these receptors, ephrin‐A2. Quantitative methods revealed that expression of ephrin‐A2 mRNA in SI reached maximum levels on postnatal day (P) 4 and dropped thereafter to background by P18. Ephrin‐A2 mRNA expression assessed by in situ hybridization qualitatively revealed a similar time course and localized the expression pattern primarily in two broad laminae in SI, comprising the supragranular and infragranular layers, and with additional expression in the subplate. This expression pattern was investigated in greater detail using immunohistochemistry for ephrin‐A2 protein. Immunoreactivity generally showed the same laminar distribution as seen with in situ hybridization, except that it persisted longer, lasting to approximately P14. Expression in the cortical plate was low or absent within presumptive layer IV, and it remained so as cortical lamination progressed. Double‐labeling immunohistochemistry with confocal microscopy revealed that cortical neurons were the principal elements expressing ephrin‐A2 protein. These findings are consistent with possible involvement of ephrin‐A2, in concert with one or more Eph receptors, in influencing arbor development of thalamocortical axons at cortical layer IV boundaries. Anat Rec, 2012. © 2011 Wiley Periodicals, Inc.
Isolation and purification of recombinant proteins, antibodies and plasmid DNA with hydroxyapatite chromatography
Authors: Hilbrig Frank , Freitag Ruth 
Published: December 2011

AbstractHydroxyapatite and related stationary phases increasingly play a role in the downstream processing of high‐value biological materials, such as recombinant proteins, therapeutic antibodies and pharmaceutical‐grade plasmid DNA. Chromatographic hydroxyapatite is an inorganic, ceramic material identical in composition, if not in structure, to calcium phosphate found in human bones and teeth. The interaction of hydroxyapatite with biomacromolecules is complex and highly dynamic, which can make predicting performance difficult, but also allows the design of very selective isolation processes. This review discusses the currently commercially available chromatographic materials, different retention mechanisms supported by these materials and differential exploitation for the design of highly specific isolation procedures. The state of the art of antibody purification by hydroxy‐ and fluoroapatite is reviewed together with tested routines for method development and implementation. Finally, the isolation of plasmid DNA is discussed, since the purification of DNA therapeutics at a sufficiently large scale is an emerging need in bioprocess development and perhaps the area in bioseparation where apatite chromatography can make its most important contribution to date.
Identification of a 21 amino acid peptide conferring 3‐hydroxypropionic acid stress‐tolerance to Escherichia coli
Authors: Warnecke T.E. , Lynch M.D. , Lipscomb M.L. , Gill R.T. 
Published: December 2011

AbstractWe report the identification of a novel small open reading frame in Escherichia coli. The sORF (called iroK) encodes a 21 amino cid peptide, which when translated confers a 133% (ca. 20 g/L) increase in resistance to 3‐hydroxypropionic acid. We show that iroK conferred tolerance is additive to previously identified tolerance mechanisms involving relief of inhibited metabolism, yet does not involve altered 3‐HP transport. This result demonstrates the continued surprises that microbial genomes hold and emphasize the importance of comprehensive discovery methods in future strain and metabolic engineering efforts. Biotechnol. Bioeng. 2012; 109:1347–1352. © 2011 Wiley Periodicals, Inc.
384 hanging drop arrays give excellent Z‐factors and allow versatile formation of co‐culture spheroids
Authors: Hsiao Amy Y. , Tung Yi‐Chung , Qu Xianggui , Patel Lalit R. , Pienta Kenneth J. , Takayama Shuichi 
Published: December 2011

AbstractWe previously reported the development of a simple, user‐friendly, and versatile 384 hanging drop array plate for 3D spheroid culture and the importance of utilizing 3D cellular models in anti‐cancer drug sensitivity testing. The 384 hanging drop array plate allows for high‐throughput capabilities and offers significant improvements over existing 3D spheroid culture methods. To allow for practical 3D cell‐based high‐throughput screening and enable broader use of the plate, we characterize the robustness of the 384 hanging drop array plate in terms of assay performance and demonstrate the versatility of the plate. We find that the 384 hanging drop array plate performance is robust in fluorescence‐ and colorimetric‐based assays through Z‐factor calculations. Finally, we demonstrate different plate capabilities and applications, including: spheroid transfer and retrieval for Janus spheroid formation, sequential addition of cells for concentric layer patterning of different cell types, and culture of a wide variety of cell types. Biotechnol. Bioeng. 2012; 109:1293–1304. © 2011 Wiley Periodicals, Inc.
PCR Analysis of expR Gene Regulating Biosynthesis of Exopolysaccharides in Sinorhizobium meliloti
Authors: Sorroche Fernando G. , Giordano Walter 
Published: December 2011

AbstractExopolysaccharide (EPS) production by the rhizobacterium Sinorhizobium meliloti is essential for root nodule formation on its legume host (alfalfa), and for establishment of a nitrogen‐fixing symbiosis between the two partners. Production of EPS II (galactoglucan) by certain S. meliloti strains results in a mucoid colony phenotype. Other strains that are unable to produce EPS II display a dry phenotype, due to the presence of an insertion element in the gene expR, a key regulator involved in many important cellular processes, including production of low‐molecular‐weight EPS II. We describe a series of three programmed undergraduate biochemistry laboratory classes teaching PCR and electrophoresis procedures to detect non‐functional expR loci in S. meliloti.