bluuebunny/crossref_metadata_2025 huggingface dataset:
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
Authors: Johnston Jennifer J. , Sapp Julie C. , Curry Cynthia , Horton Margaret , Leon Eyby , Cusmano‐Ozog Kristina , Dobyns William B. , Hudgins Louanne , Zackai Elaine , Biesecker Leslie G.
Published: November 2013

The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X‐linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. The first two original families were quite similar in phenotype, with uniform early lethality although a confirmatory case report showed survival into childhood. Here we report on five affecteds from three newly recognized families, including patients with atypical manifestations. None of the five patients had talipes and others also lacked cardinal TARP features of Robin sequence and atrial septal defect. All three families demonstrated de novo mutations, and one of the families had two recurrences, with demonstrable maternal mosaicism. © 2013 Wiley Periodicals, Inc.
Thiazolothiazole‐Containing Ambipolar Organic Semiconductor with Balanced Hole and Electron Mobility
Authors: Wang Yuanyuan , Huang Qiuliu , Liu Zhiqiang , Li Hongxiang
Published: November 2013

Thiazolothiazole‐containing organic semiconductors DH‐TTFZTT and DPCO‐TTFZTT were synthesized. Single crystal diffraction result revealed that DH‐TTFZTT adopts herringbone packing in the crystals, and strong S–S and S–π intermolecular interactions were found among neighboring molecules, which form a two‐dimensional network in the crystals. Thin‐film transistor characteristics showed that DH‐TTFZTT behaves as a p‐channel semiconductor with a hole mobility of approximately 2×10−2 cm2 V−1 s−1. DPCO‐TTFZTT‐based devices have balanced ambipolar performance, with hole and electron mobilities as high as 2.41×10−2 cm2 V−1 s−1 and 2.36×10−2 cm2 V−1 s−1 respectively, which are some of the highest values for thiazolothiazole derivatives.
Highly Enantioselective Preparation of Fluorinated Phosphonates by Michael Addition of α‐Fluoro‐β‐ketophosphonates to Nitroalkenes
Authors: Kwiatkowski Jacek , Lu Yixin
Published: November 2013

Fluorinated phosphonates are excellent surrogates of phosphates, outperforming the latter in terms of hydrolytic stability in biological systems while retaining similar activities. However, methods for preparing chiral fluorinated phosphonates are very limited. In this report, racemic α‐fluoro‐β‐ketophosphonates were used in stereoselective Michael addition to nitroalkenes promoted by trifunctional thiourea organocatalyst. Highly functionalised α‐fluoro‐β‐keto‐γ‐nitrophosphonates were obtained in high yields of 84–99% with excellent stereochemical control (96–99% ee and 3:1–34:1 d.r.).
Highly Selective Dimerization and Trimerization of Isobutene to Linearly Linked Products by Using Nickel Catalysts
Authors: Behr Arno , Rentmeister Nils , Seidensticker Thomas , Vosberg Jonas , Peitz Stephan , Maschmeyer Dietrich
Published: November 2013

The unique linear linkage of isobutene to generate highly valuable C8 precursors for plasticizers is feasible by using special nickel catalysts. (4‐Cyclooctene‐1‐yl)(1,1,1,5,5,5‐hexafluoro‐2,4‐acetylacetonato)nickel and aluminum‐alkyl‐activated nickel acetylacetonates produce isobutene dimers with high selectivities of up to 95 %. Moreover, selectivity for the head‐to‐head products (2,5‐dimethylhexenes) is remarkably high at up to 99 %. Additionally, novel C12 isobutene trimers are also formed with a very high selectivity of up to 99 % for the linear linkage. The trimer structure (2,5,8‐trimethylnonenes) reflects the stepwise characteristic of the reaction mechanism. Pathways of insertion and activation and the deactivation processes of the catalyst are discussed in detail.
Clickable SBA‐15 to Screen Functional Groups for Adsorption of Antibiotics
Authors: Gao Jinsuo , Zhang Xueying , Xu Shutao , Liu Jian , Tan Feng , Li Xinyong , Qu Zhenping , Zhang Yaobin , Quan Xie
Published: November 2013

Pharmaceutical antibiotics, as emerging contaminants, are usually composed of several functional groups that endow them with the ability to interact with adsorbents through different interactions. This makes the preparation of adsorbents tedious and time‐consuming to screen appropriate functionalized materials. Herein, we describe the synthesis of clickable SBA‐15 and demonstrate its feasibility as a screening material for the adsorption of antibiotics based on similar adsorption trends on materials with similar functional groups obtained by a click reaction and cocondensation/grafting methods.
Why Have We Made Neglect So Complicated? Taking a Fresh Look at Noticing and Helping the Neglected Child
Authors: Daniel Brigid
Published: November 2013

The experience of chronic neglect is extremely harmful to children's physical, emotional, cognitive and behavioural development. As an area of research it has been traditionally described as neglected, and as an arena of practice it is viewed as complex and intractable. Over the last few decades, however, there has been a body of evidence building up to help with the understanding of the impact of neglect upon children and to guide intervention. This paper draws on experience as a researcher in the field to present some thoughts on our current understanding of neglect, and how we can move forward with more appropriate responses. It argues that existing evidence is not being used to best effect and that current protective systems, like those in the UK, are still struggling to provide an effective response to neglected children. The language of neglect has become over‐complicated and the systems and processes for assessment, planning and intervention are mired in bureaucracy. Some of these complexities are explored in more detail and a model is proposed that would support a more direct and straightforward response to children whose needs are not being met. Copyright © 2013 John Wiley & Sons, Ltd.

‘current protective systems’

‘are still struggling to provide an effective response to neglected children’

Key Practitioner Messages:

Agencies and practitioners need to avoid being driven into developing complex responses by the complexity of neglect as a phenomenon.

Separate ‘child protection’ and ‘family support/child in need’ pathways are not helpful for neglected children.

In relation to a neglected child, practitioners can consider what the child needs and what they need people to think about and do on their behalf.

Copyright © 2013 John Wiley & Sons, Ltd.
Hetero‐bivalent GLP‐1/Glibenclamide for Targeting Pancreatic β‐Cells
Authors: Hart Nathaniel J. , Chung Woo Jin , Weber Craig , Ananthakrishnan Kameswari , Anderson Miranda , Patek Renata , Zhang Zhanyu , Limesand Sean W. , Vagner Josef , Lynch Ronald M.
Published: November 2013

G protein‐coupled receptor (GPCR) cell signalling cascades are initiated upon binding of a specific agonist ligand to its cell surface receptor. Linking multiple heterologous ligands that simultaneously bind and potentially link different receptors on the cell surface is a unique approach to modulate cell responses. Moreover, if the target receptors are selected based on analysis of cell‐specific expression of a receptor combination, then the linked binding elements might provide enhanced specificity of targeting the cell type of interest, that is, only to cells that express the complementary receptors. Two receptors whose expression is relatively specific (in combination) to insulin‐secreting pancreatic β‐cells are the sulfonylurea‐1 (SUR1) and the glucagon‐like peptide‐1 (GLP‐1) receptors. A heterobivalent ligand was assembled from the active fragment of GLP‐1 (7–36 GLP‐1) and glibenclamide, a small organic ligand for SUR1. The synthetic construct was labelled with Cy5 or europium chelated in DTPA to evaluate binding to β‐cells, by using fluorescence microscopy or time‐resolved saturation and competition binding assays, respectively. Once the ligand binds to β‐cells, it is rapidly capped and presumably removed from the cell surface by endocytosis. The bivalent ligand had an affinity approximately fivefold higher than monomeric europium‐labelled GLP‐1, likely a result of cooperative binding to the complementary receptors on the βTC3 cells. The high‐affinity binding was lost in the presence of either unlabelled monomer, thus demonstrating that interaction with both receptors is required for the enhanced binding at low concentrations. Importantly, bivalent enhancement was accomplished in a cell system with physiological levels of expression of the complementary receptors, thus indicating that this approach might be applicable for β‐cell targeting in vivo.
Isomerization During Olefin Metathesis: An Assessment of Potential Catalyst Culprits
Authors: Higman Carolyn S. , Plais Lucie , Fogg Deryn E.
Published: November 2013

Two ruthenium hydride complexes commonly proposed as agents of unintended isomerization during olefin metathesis are examined for their activity in isomerization of estragole, a representative allylbenzene. Neither proves kinetically competent to account for the levels of isomerization observed during cross‐metathesis of estragole by the second‐generation Grubbs catalyst. A structure–activity analysis of selected ruthenium hydride complexes indicates that higher isomerization activity correlates with a more electrophilic metal center.
ChemInform Abstract: Ca1‐xRExAg1‐ySb (RE: La, Ce, Pr, Nd, Sm; 0 ≤ x 1; 0 ≤ y ≤ 1): Interesting Structural Transformation and Enhanced High‐Temperature Thermoelectric Performance.
Authors: Wang Jian , Liu Xiao‐Cun , Xia Sheng‐Qing , Tao Xu‐Tang
Published: November 2013

The new Zintl phase‐based thermoelectric materials are synthesized from the elements using Pb as flux (alumina crucible, 900 °C, 24 h).
ChemInform Abstract: Mechanical Niobium Doping in Barium Titanate Electroceramics.
Authors: Velasco‐Davalos I. A. , Ruediger A. , Cruz‐Rivera J. J. , Gomez‐Yanez C.
Published: November 2013

Nb‐doped BaTiO3 ceramics are prepared by mechanical alloying of BaTiO3 and Nb2O5 powders in a planetary mill for up to 9 h followed by sintering at 1500 °C for 5 h.
ChemInform Abstract: Luminescent Carbon Dots in a New Magnesium Aluminophosphate Zeolite.
Authors: Wang Yanyan , Li Yi , Yan Yan , Xu Jun , Guan Buyuan , Wang Qiang , Li Jiyang , Yu Jihong
Published: November 2013

The structure of the new magnesium aluminophosphate molecular sieve materials (III) (obtained with 86 wt.% yield; monoclinic, space group P21/c, Z = 4) and (IV) (monoclinic, P21/n, Z = 4) are determined by single crystal XRD.
ChemInform Abstract: New Monoclinic Phase at the Composition Cu2SnSe3 and Its Thermoelectric Properties.
Authors: Fan Jing , Carrillo‐Cabrera Wilder , Akselrud Lev , Antonyshyn Iryna , Chen Lidong , Grin Yuri
Published: November 2013

A new phase of Cu2SnSe3 is synthesized from stoichiometric mixtures of the elements (quartz ampule, 1173 K for 12 h and annealing at 850 K for 7 d).
ChemInform Abstract: Electrochemical Technique and Copper‐Promoted Transformations: Selective Hydroxylation and Amination of Arylboronic Acids.
Authors: Qi Hing‐Lin , Chen Dong‐Song , Ye Jian‐Shan , Huang Jing‐Mei
Published: November 2013

Boronic acids are selectively converted by electrolysis into the corresponding phenols and amines in aqueous ammonia simply by changing the concentration of ammonia solution and the potential.
ChemInform Abstract: Efficient Ring Opening Reaction of Epoxides with Oxygen Nucleophiles Catalyzed by Quaternary Onium Salt.
Authors: Kim Jin Won , Cho Dae Won , Park Gyoosoon , Kim Sung Hong , Ra Choon Sup
Published: November 2013

The quarternary phosphonium salt Bu4PBr shows to be the most efficient catalyst for the title ring opening reaction.
ChemInform Abstract: Generation of Organolithium Compounds Bearing Super Silyl Ester and Their Application of Matteson Rearrangement.
Authors: Oda Susumu , Yamamoto Hisashi
Published: November 2013

The super silyl group Si(SiEt3)3 is found to be an efficient and robust protecting group for carboxylic acids.
ChemInform Abstract: Rh(III)‐Catalyzed Halogenation of Vinylic C—H Bonds: Rapid and General Access to Z‐Halo Acrylamides.
Authors: Kuhl Nadine , Schroeder Nils , Glorius Frank
Published: November 2013

Additionally representative application of this method for subsequent Sonogashira coupling is demonstrated.
ChemInform Abstract: Room Temperature Ambient Pressure (RTAP)‐Hydroformylation in Water Using a Self‐Assembling Ligand.
Authors: Straub Alexander T. , Otto Marina , Usui Ippei , Breit Bernhard
Published: November 2013

The Ru‐catalyzed hydroformylation of a variety of terminal alkenes is demonstrated to proceed under mild reaction conditions using the self‐assembling ligand PTS.
ChemInform Abstract: Three‐Component Chemoenzymatic Synthesis of Amide Ligated 1,2,3‐Triazoles.
Authors: Hassan Sidra , Tschersich Roxanne , Mueller Thomas J. J.
Published: November 2013

Novozym 435 is used as efficient promotor for the aminolysis of a variety of methyl esters with propargylamine.
ChemInform Abstract: Catalytic Asymmetric Hydrogenation of δ‐Ketoesters: Highly Efficient Approach to Chiral 1,5‐Diols.
Authors: Yang Xiao‐Hui , Xie Jian‐Hua , Liu Wei‐Peng , Zhou Qi‐Lin
Published: November 2013

This method yields the title compounds in high yields and with excellent enantioselectivities under mild reaction conditions and with low catalyst loadings.
ChemInform Abstract: In situ Formed Bifunctional Primary Amine‐Imine Catalyst: Application to the Construction of Chiral Tertiary Alcohols Through Asymmetric Aldol‐Type Reaction.
Authors: Mao Zhijie , Zhu Xi , Lin Aijun , Li Weipeng , Shi Yan , Mao Haibin , Zhu Chengjian , Cheng Yixiang
Published: November 2013

The asymmetric aldol‐type reaction of cyclic ketones with β,γ‐unsaturated α‐keto esters and isatins is developed using chiral bisimines as precatalysts.
ChemInform Abstract: The Pd(0) Nanoparticles Stabilized by Collagen Fibers as a Recyclable Heterogeneous Catalyst for the Cyanation of Aryl Bromides Using K4Fe(CN)6 as Non‐toxic Source of Cyanide.
Authors: Bahari Siavash
Published: November 2013

The title reaction is applicable to a wide range of aromatic bromides with good yields and the catalyst can be recycled and reused without significant loss of activity.
ChemInform Abstract: Immobilization of L‐Lysine on Zeolite 4A as an Organic‐Inorganic Composite Basic Catalyst for Synthesis of α,β‐Unsaturated Carbonyl Compounds under Mild Conditions.
Authors: Zamani Farzad , Rezapour Mehdi , Kianpour Sahar
Published: November 2013

The immobilized lysine catalyst is shown to be highly active for the Knoevenagel reaction of various aromatic and aliphatic aldehydes with ethyl cyanoacetate.
ChemInform Abstract: Mild Negishi Cross‐Coupling Reactions Catalyzed by Acenaphthoimidazolylidene Palladium Complexes at Low Catalyst Loadings.
Authors: Liu Zelong , Dong Ningning , Xu Mizhi , Sun Zheming , Tu Tao
Published: November 2013

Negishi cross‐coupling of alkylzinc reagents with a wide range of (het)aryl halides proceeds at low catalyst loading under mild reaction conditions mostly within 30 minutes.
ChemInform Abstract: Asymmetric Indoline Synthesis via Intramolecular Aza‐Michael Addition Mediated by Bifunctional Organocatalysts.
Authors: Miyaji Ryota , Asano Keisuke , Matsubara Seijiro
Published: November 2013

A novel asymmetric synthesis of 2‐substituted indolines is developed using intramolecular cyclization of α,β‐unsaturated ketones of type (I) in the presence of a quinidine derived bifunctional urea catalyst.
ChemInform Abstract: Catalytic Friedel—Crafts Reaction of Aminocyclopropanes.
Authors: de Nanteuil Florian , Loup Joachim , Waser Jerome
Published: November 2013

It is demonstrated that phthaloyl protected 2,2,2‐trifluoroethyl diester aminocyclopropanes are useful homo‐olefin equivalents in Friedel—Crafts type reactions with differently substituted indoles to provide C3 or C2 substituted indoles.
ChemInform Abstract: Copper‐Catalyzed Direct Synthesis of Iodoenamides from Ketoximes.
Authors: Liang Hao , Ren Zhi‐Hui , Wang Yao‐Yu , Guan Zheng‐Hui
Published: November 2013

The novel and efficient title synthesis affords regioselectively Z‐iodoenamides from readily available ketoximes.
ChemInform Abstract: Synthesis and Antimosquito Properties of 2,6‐Substituted Benzo[d]thiazole and 2,4‐Substituted Benzo[d]thiazole Analogues Against Anopheles arabiensis.
Authors: Venugopala Katharigatta Narayanaswamy , Krishnappa Manjula , Nayak Susanta K. , Subrahmanya Bhat K. , Vaderapura Jayashankaragowda P. , Chalannavar Raju K. , Gleiser Raquel M. , Odhav Bharti
Published: November 2013

Title compounds [(IV), (VI), and (IX)] are efficiently synthesized via three‐component condensation and screened for their antimosquito properties, where the compounds (IVa), (IVc), and (IX) show highest repellent activity.
ChemInform Abstract: Synthesis of Some Novel Chalcones, Flavanones and Flavones and Evaluation of Their Antiinflammatory Activity.
Authors: Bano Sameena , Javed Kalim , Ahmad Shamim , Rathish I. G. , Singh Surender , Chaitanya M. , Arunasree K. M. , Alam M. S.
Published: November 2013

The anti‐inflammatory activity of a series of novel synthesized chalcones (III), flavones (V) and flavanones (IV), derived from 2‐hydroxyacetophenones and aromatic aldehydes is presented.
ChemInform Abstract: Superior Anticancer Activity of Halogenated Chalcones and Flavonols over the Natural Flavonol Quercetin.
Authors: Dias Tatiana A. , Duarte Cecilia L. , Lima Cristovao F. , Proenca M. Fernanda , Pereira‐Wilson Cristina
Published: November 2013

Among the newly synthesized compounds, derivative (IId) exhibits the highest cytostatic activity.
ChemInform Abstract: Rhodium(III)‐Catalyzed C—H Activation and Amidation of Arenes Using N‐Arenesulfonated Imides as Amidating Reagents.
Authors: Yu Songjie , Wan Boshun , Li Xingwei
Published: November 2013

Arenes bearing pyridine, pyrimidine, and oxime directing groups are suitable substrates for the title reaction which proceeds without the need of a base as additive.
ChemInform Abstract: Ruthenium‐Catalyzed Intramolecular Allylic Dearomatization Reaction of Indole Derivatives.
Authors: Zhang Xiao , Liu Wen‐Bo , Wu Qing‐Feng , You Shu‐Li
Published: November 2013

Indoles of type (I) bearing an unsaturated carbonate side chain undergo efficient spirocyclization via a Ru‐catalyzed intramolecular allylic dearomatization.
ChemInform Abstract: Electrocatalytic Fluoroalkylation of Olefins. Perfluoroalkylation of 2‐Vinylpyridine.
Authors: Khrizanforov M. N. , Gryaznova T. V. , Mikhailov D. Yu. , Budnikova Yu. H. , Sinyashin O. G.
Published: November 2013

Depending on the electrosynthesis conditions, perfluoroalkylation of compound (I) leads either to dimeric products of addition of perfluoroalkyl substituents at the double bond of the olefin (III) or, in the presence of triethylamine, to monomeric product (IV).
ChemInform Abstract: The Kondrat′eva Reaction in Flow: Direct Access to Annulated Pyridines.
Authors: Lehmann Johannes , Alzieu Thibaut , Martin Rainer E. , Britton Robert
Published: November 2013

The direct synthesis of cycloalka[c]pyridines via the title reaction by using continuous flow reaction conditions is developed.
ChemInform Abstract: A Novel Amalgamation of 1,2,3‐Triazoles, Piperidines and Thieno Pyridine Rings and Evaluation of Their Antifungal Activity.
Authors: Darandale Sunil N. , Mulla Nayeem A. , Pansare Dattatraya N. , Sangshetti Jaiprakash N. , Shinde Devanand B.
Published: November 2013

The synthesized compounds (X) exhibit moderate to good antifungal activity, wherein they are able to discriminate between different species of the same genus.
ChemInform Abstract: Organocatalysis in the Three‐Component Povarov Reaction and Investigation by Mass Spectrometry.
Authors: Simoes Juliana Baptista , de Fatima Angelo , Sabino Adao Aparecido , de Aquino Francisco Jose Torres , da Silva Daniel Leite , Barbosa Luiz Claudio Almeida , Fernandes Sergio Antonio
Published: November 2013

A diastereoselective three‐component cascade reaction, catalyzed by 4‐sulfonic acid calix[4]arene, provides a new access to diverse julolidine derivatives (IV) in high yields.
ChemInform Abstract: Synthesis and Reactivity of 5‐Polyfluoroalkyl‐5‐deazaalloxazines.
Authors: Dudkin Sergii , Iaroshenko Viktor O. , Sosnovskikh Vyacheslav Ya. , Tolmachev Andrey A. , Villinger Alexander , Langer Peter
Published: November 2013

Reaction of 6‐arylamino‐uracils (I) with anhydrides of polyfluorocarboxylic acids (II) and subsequent cyclization with conc.
ChemInform Abstract: Enantioselective C—H Arylation Strategy for Functionalized Dibenzazepinones with Quaternary Stereocenters.
Authors: Saget Tanguy , Cramer Nicolai
Published: November 2013

The reaction proceeds via an enantiodiscriminating CMD (concerted metalation deprotonation) step through a rare eight‐membered palladacycle, which is unprecedented for an enantioselective process.
ChemInform Abstract: Steroids and Ceramide from the Stem Bark of Odyendyea gabonensis.
Authors: Happi Emmanuel Ngeufa , Fannang Simone Veronique , Fomani Marie , Donkwe Suzy Mireille Moladje , Nicaise Nkoungou Yomzak Carine , Wansi Jean Duplex , Sewald Norbert
Published: November 2013

Two new steroids (I) and (II) and one new ceramide (III) are isolated from the methylene chloride extract of the stem bark of Odyendyea gabonensis together with 11 known compounds.
ChemInform Abstract: Straightforward Synthesis of Non‐natural L‐Chalcogen and L‐Diselenide N‐Boc‐protected‐γ‐amino Acid Derivatives.
Authors: Kawasoko Cristiane Y. , Foletto Patricia , Rodrigues Oscar E. D. , Dornelles Luciano , Schwab Ricardo S. , Braga Antonio L.
Published: November 2013

A simple, efficient and flexible route for the preparation of enantiopure selenium‐, telluro‐, and thio‐N‐protected‐γ‐amino acid derivatives (III) from glutamic acid is described.
ChemInform Abstract: In‐situ Vibrational Spectroscopic Studies on Model Catalyst Surfaces at Elevated Pressures
Authors: Ozensoy Emrah , Vovk Evgeny I.
Published: November 2013

Review: 106 refs.
ChemInform Abstract: Chemistry of Precious Metal Oxides Relevant to Heterogeneous Catalysis
Authors: Kurzman Joshua A. , Misch Lauren M. , Seshadri Ram
Published: November 2013

Review: 155 refs.
ChemInform Abstract: Recent Advances in the Field of Main‐Group Mono‐ and Diatomic “Allotropes” Stabilized by Neutral Ligands
Authors: Wilson David J. D. , Dutton Jason L.
Published: November 2013

Review: 75 refs.
ChemInform Abstract: Nonvolatile Functional Molecular Liquids
Authors: Babu Sukumaran Santhosh , Nakanishi Takashi
Published: November 2013

Review: 87 refs.
ChemInform Abstract: Recent Developments in Deep Eutectic Solvents in Chemical Sciences
Authors: Tang Baokun , Row Kyung Ho
Published: November 2013

Review: 117 refs.
ChemInform Abstract: Asymmetric Organocatalysis and the Nitro Group Functionality
Authors: Aitken Lewis S. , Arezki Natasha R. , Dell'Isola Antonio , Cobb Alexander J. A.
Published: November 2013

Review: 115 refs.
ChemInform Abstract: Flash Chemistry: Flow Chemistry That Cannot be Done in Batch
Authors: Yoshida Jun‐ichi , Takahashi Yusuke , Nagaki Aiichiro
Published: November 2013

Review: 149 refs.
ChemInform Abstract: Au‐metal Oxide Support Interface as Catalytic Active Sites
Authors: Wu Yi Y. , Mashayekhi Neema A. , Kung Harold H.
Published: November 2013

Review: 106 refs.
ChemInform Abstract: Controlling Photons in a Box and Exploring the Quantum to Classical Boundary (Nobel Lecture)
Authors: Haroche Serge
Published: November 2013

Review: 118 refs.
ChemInform Abstract: Environmentally Responsive MRI Contrast Agents
Authors: Davies Gemma‐Louise , Kramberger Iris , Davis Jason J.
Published: November 2013

Review: 165 refs.
ChemInform Abstract: A Review of Cellulosic Biofuel Commercial‐Scale Projects in the United States
Authors: Brown Tristan R. , Brown Robert C.
Published: November 2013

Review: 62 refs.
ChemInform Abstract: Recent Advances on the Application of NMR Methods to Study the Conformation and Recognition Properties of Carbohydrates
Authors: Arda Ana , Berbis M. Alvaro , Blasco Pilar , Canales Angeles , Canada F. Javier , Fernandez‐Alonso M. Carmen , Marcelo Filipa , Jimenez‐Barbero Jesus
Published: November 2013

Review: 117 refs.
Establishing the flow cytometric assessment of myeloid cells in kidney ischemia/reperfusion injury
Authors: Williams Timothy M. , Wise Andrea F. , Alikhan Maliha A. , Layton Daniel S. , Ricardo Sharon D.
Published: November 2013

Polychromatic flow cytometry is a powerful tool for assessing populations of cells in the kidney through times of homeostasis, disease and tissue remodeling. In particular, macrophages have been identified as having central roles in these three settings. However, because of the plasticity of myeloid cells it has been difficult to define a specific immunophenotype for these cells in the kidney. This study developed a gating strategy for identifying and assessing monocyte and macrophage subpopulations, along with neutrophils and epithelial cells in the healthy kidney and following ischemia/reperfusion (IR) injury in mice, using antibodies against CD45, CD11b, CD11c, Ly6C, Ly6G, F4/80, CSF‐1R (CD115), MHC class II, mannose receptor (MR or CD206), an alternatively activated macrophage marker, and the epithelial cell adhesion marker (EpCAM or CD326). Backgating analysis and assessment of autofluorescence was used to extend the knowledge of various cell types and the changes that occur in the kidney at various time‐points post‐IR injury. In addition, the impact of enzymatic digestion of kidneys on cell surface markers and cell viability was assessed. Comparisons of kidney myeloid populations were also made with those in the spleen. These results provide a useful reference for future analyses of therapies aimed at modulating inflammation and enhancing endogenous remodeling following kidney injury. © 2013 International Society for Advancement of Cytometry
Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse model
Authors: Morita Jumpei , Nakamura Masataka , Kobayashi Yukiho , Deng Chu‐Xia , Funato Noriko , Moriyama Keiji
Published: November 2013

Background: Apert syndrome (AS) is characterized by craniosynostosis, midfacial hypoplasia, and bony syndactyly. It is an autosomal dominantly inherited disease caused by point mutations (S252W or P253R) in fibroblast growth factor receptor (FGFR) 2. These mutations cause activation of FGFR2 depending on ligand binding. Recently, an AS mouse model, Fgfr2+/S252W, showed phenotypes similar to those of AS patients. We previously reported that the soluble form of FGFR2S252W (sFGFR2IIIcS252W) efficiently inhibits enhanced osteoblastic differentiation caused by FGFR2 activation in AS in vitro, presumably because FGFs binding to FGFRs is interrupted. In this study, we developed Fgfr2+/S252W (Ap) mice expressing the sFGFR2IIIcS252W protein, and we investigated the effects of sFGFR2IIIcS252W on AS‐like phenotypes. Results: In Ap mice, the coronal suture (CS) was fused prematurely at P1. In addition, the mice exhibited a widened interfrontal suture (IFS) with ectopic bone and thickened cartilage formation. In Fgfr2+/S252W sFGFR2IIIcS252W (Ap/Sol) mice, the CS was similar to that of wild‐type mice. Ap/Sol mice did not show any ectopic bone or cartilage formation in the IFS, but showed a wider IFS than that of the wild‐type mice. Conclusions: sFGFR2IIIcS252W may partially prevent craniosynostosis in the Apert mouse model by affecting the CS and IFS in vivo. Developmental Dynamics 243:560–567, 2014. © 2013 The Authors Developmental Dynamics published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists.
Oral antihistamine–decongestant–analgesic combinations for the common cold—do they work?
Authors: Fernandes Ricardo
Published: November 2013

Eco‐paediatrics is an occasional feature in Evidence‐Based Child Health: A Cochrane Review Journal. Our goal is to contribute to the worldwide discussion on reducing waste in health care. In each instalment, we will select a recent Cochrane review highlighting a practice, still in use, which the available evidence tells us should be discontinued.
Cochrane in context: Parent‐mediated early intervention for young children with autism spectrum disorders (ASD)
Authors: McConachie Helen , Oono Inalegwu
Published: November 2013

Cochrane Review: Parent‐mediated early intervention for young children with autism spectrum disorders (ASD) Oono IP, Honey EJ, McConachie H. Parent‐mediated early intervention for young children with autism spectrum disorders (ASD). Cochrane Database of Systematic Reviews 2013, Issue 4. Art. No.: CD009774. DOI: 10.1002/14651858.CD009774.pub2

This companion piece, “Parent‐mediated early intervention for young children with autism spectrum disorders (ASD),” contains the following pieces:

The abstract of the review

A commentary from one or more of the review authors, explaining why the review team felt the review was an important one to produce

A review of clinical practice guidelines from the National Institute for Health and Care Excellence (NICE), United Kingdom
Triethanolamine as an Inexpensive and Efficient Ligand for Copper‐Catalyzed Hydroxylation of Aryl Halides in Water
Authors: Wang Deping , Kuang Daizhi , Zhang Fuxing , Tang Siping , Jiang Wujiu
Published: November 2013

The CuI/triethanolamine catalyst system efficiently promotes the direct hydroxylation of aryl iodides and bromides in water to provide the corresponding phenols in good to excellent yields. Moreover, the procedure avoids the use of toxic organic solvents and tolerates many functional groups.
Spiro‐ and Bicycloannulation of Sulfoximine‐Substituted 2‐Hydroxy‐dihydropyrans: Enantioselective Synthesis of Spiroketals, Spiroethers, and Oxabicycles and Structure of Dihydropyran Oxocarbenium Ions
Authors: Lejkowski Michal , Banerjee Prabal , Raabe Gerhard , Runsink Jan , Gais Hans‐Joachim
Published: November 2013

A modular enantioselective synthesis of spiroketals, spiroethers, and oxabicycles, each containing a dihydropyran subunit, is described. It is based on the 2,2‐spiro‐ and 2,6‐bicycloannulation of sulfoximine‐substituted 2‐hydroxy‐dihydropyrans. Key steps of the spiroannulations are the ring‐closing metathesis of the corresponding 2,2‐oxadienyl and 2,6‐dienyl dihydropyrans and Prins cyclization of 2‐alkenyl 2‐hydroxy‐dihydropyrans. Ring‐closing metathesis of the corresponding 2,6‐dienyl dihydropyrans gave oxabicycles with oxabicyclo[4.3.1]decane skeletons. These routes were extended to the synthesis of spiroketals and spiroethers incorporating additional annulated six‐membered rings. Diastereoselective Prins cyclization of mono‐ and bicyclic 2‐alkenyl‐2‐hydroxy‐dihydropyrans was highly selective and afforded chloro‐substituted spirocycles. Substituted 2‐hydroxy‐dihydropyrans were obtained through cyclization of δ‐hydroxy ketones, which were synthesized from enantiomerically pure sulfoximine‐substituted homoallylic alcohols through lithiation and trapping of the α‐lithioalkenylsulfoximines with unsaturated aldehydes, followed by allylic oxidation. Inter‐ and intramolecular glycosidations of the 2‐hydroxy‐dihydropyrans with O‐ and C‐nucleophiles proceeded with high stereoselectivities and furnished 2,6‐trans‐configured glycosides. Dihydropyran oxocarbenium ions are most likely intermediates in the glycosidations. According to ab initio calculations, sulfoximine‐ and trimethyl‐substituted dihydropyran oxocarbenium ions adopt a half‐chair‐like conformation. The energy difference between the oxocarbenium ion with pseudoaxial and the one with pseudoequatorial methyl groups is very small. A transition state model for their reactions with nucleophiles is proposed. It features a half‐chair‐like conformation, a pseudoequatorial C6 substituent, and an anti‐addition of the nucleophile along an axial trajectory to C2 that produces an anti‐periplanar lone pair at the O atom. A similar transition state model allows a general explanation for the trans stereoselectivity of the reactions between C6‐substituted dihydropyran oxocarbenium ions and nucleophiles.
Analysis of Photovoltaics and Wind Power in Future Renewable Energy Scenarios
Authors: Kreifels Niklas , Mayer Johannes N. , Burger Bruno , Wittwer Christof
Published: November 2013

This study aims to shed light on the question of how the renewable coverage ratio and the corresponding share of usable energy from fluctuating production by photovoltaics (PV) and wind depends on the flexibility of the conventional power plant system, additional positive load options (i.e., power to heat), and storage capacity in the German electricity system. It was shown that a flexible power plant system with a small amount of must‐run base generation improves the ratio of renewable coverage and usable fluctuating production significantly. Flexible loads also proved to be a very effective measure for integrating renewables into the grid. The simulation suggested that large storage systems are only effective in combination with high penetration levels of PV and wind capacity. Furthermore the ratio of PV/wind capacity that yields the highest technical efficiency was evaluated regarding the ratio of renewable coverage to usable fluctuating energy for the different scenarios.
Carbon capture in molten salts
Authors: Olsen Espen , Tomkute Viktorija
Published: November 2013

Capture and storage of fossil carbon emitted to the atmosphere from anthropogenic sources has been identified as a key technology for keeping human‐induced global warming below 2°C. Available technologies have not achieved widespread impact due to costs related to increased energy consumption and expensive, large process equipment. Here, we show how molten inorganic halide salt‐based mixtures containing CaO may be utilized for selective capture and subsequent controlled release of carbon dioxide from diluted flue gases. Highly efficient absorption is demonstrated in a fluoride‐based liquid, absorbing close to 100% of the CO2 from a simulated flue gas with an absorbing column height of only 10 cm. Greater than 90% carbonation with >80% regeneration to CaO was recorded. Excellent cyclability has been achieved with a chloride‐based liquid with 60% carbonation and 100% regeneration to CaO during four cycles. The high efficiencies may enable extraction of CO2 from highly diluted gas mixtures.
Nonparametric linkage and family‐based association studies of a simulated complex disorder
Authors: Koller Daniel L. , Balding Joanna , Foroud Tatiana
Published: November 2013

Affected sibling pairs are widely used to identify chromosomal regions harboring genetic loci underlying common disease. We explore the utility of nonparametric sibling pair and family‐based association methods to search for disease susceptibility loci in simulated pedigree data for a qualitative disease trait. Logistic regression was used to model gene×gene and gene×environment interactions when significant linkage and association were detected. Using these methods, we were able to detect three of the four susceptibility loci underlying the disease trait with multipoint lod scores of 1.0 or greater.
Application of probabilistic neural network analysis to a disease with complex inheritance: The GAW11 simulated data
Authors: Naimark David M.J. , Paterson Andrew D.
Published: November 2013

A probabilistic neural network analysis was applied to the simulated GAW11 data. Six replicates drawn at random from one of the simulated populations were used to generate training and test vectors for pairs of siblings. The vectors incorporated two environmental indicators as well as identical‐by‐descent allele sharing scores from each of 300 genetic markers. The performance of a ‘naïve’ probabilistic neural network (PNN) was fair. However, by combining a traditional linkage analysis with a PNN which incorporated gene×environment interaction, the performance was considerably enhanced.
The impact of marker allele frequency misspecification in variance components quantitative trait locus analysis using sibship data
Authors: Borecki Ingrid B. , Province Michael A.
Published: November 2013

In cases where sibship data are collected for a quantitative trait locus (QTL) linkage study without access to parental genotypes, the proportion of genes shared identical by descent must be estimated using the marker allele frequencies. No systematic study has been conducted to date to evaluate the effect of misspecification of these frequencies on a test of quantitative trait linkage. Analysis of both simulated and actual data on quantitative traits was carried out under various sets of allele frequency estimates. While correctly specifying the allele frequency distribution led to a slightly more powerful test and higher lod scores, the differences were small and would not likely alter the conclusion of a study. These results suggest that, at least for QTL analysis, there is a great deal of tolerance for misspecifying marker allele frequencies with little, if any, appreciable effect on the linkage test. However, the observed variations may be sufficiently large to alter the priority one might give to a positive finding for follow up.
Assessment of estimation procedures for risk and onset hazard with dependent data
Authors: Chase Gary A. , King Terri M. , Oja‐Tebbe Nancy , Rybicki Benjamin A. , Goldin Lynn R.
Published: November 2013

Analysis of the role of candidate genes as risk factors for age‐dependent hereditary conditions often ignores the importance of dependence among sibships or other family clusters for age of onset. We examined the performance of several methods of survival analysis with dependent data using Collaborative Study on the Genetics of Alcoholism families as submitted for GAW11. Additionally, an arbitrary truncation of cluster size was performed to explore the potential impact of heterogeneity of family size on the resulting inferences concerning the role of candidate genes. Our results showed substantial differences in attribution of risk to candidate genes according to whether the method utilized allowed for dependence in onset age and according to whether the sample was truncated or arbitrarily stratified. Further work needs to be done to clarify the importance of properly accounting for dependent data in age‐dependent phenotypes and in integrating these methods into widely used genetic analysis computer programs.
Detection of quantitative trait loci associated with alcohol‐dependence: Use of model‐free sib‐pair method and combined segregation‐linkage analysis based on regressive models
Authors: Durrieu Gilles , Meunier Flavie , O'Connell Jeff , Martinez Maria , Demenais Florence
Published: November 2013

Two linkage methods were used to detect loci underlying neurophysiological measures associated with alcohol dependence 1) the Haseman‐Elston (H‐E) sib pair method for genome‐wide search, and 2) the combined segregation‐linkage (CSL), based on regressive models, to confirm positive linkages found by the genome screening. Among 14 linkage results that were significant at the 0.5% level using H‐E, the CSL method leads to similar p‐values in only three cases but to higher p‐values in all others. Investigation of these discrepancies shows that assumptions (normality and homoscedasticity of the error term) of H‐E least‐squares regression method are not verified. A robust estimator of slope parameters without assuming any distribution function for the linear model error terms increases the p‐values and reduces the difference between H‐E and CSL results. Alternatively, the CSL approach may lack power when multiple genes with small effects are involved.
Linkage and association analyses of alcoholism using a regression‐based transmission/disequilibrium test
Authors: George Varghese , Tiwari Hemant K. , Shu Youyi , Zhu Xiaofeng , Elston Robert C.
Published: November 2013

Recently, George et al. proposed a regression‐based transmission/disequilibrium test for linkage using information on the parent‐to‐offspring transmission status of an allele at a marker locus. We extended this test by simultaneously testing for any population association by incorporating the presence/absence status of the associated allele as a covariate in the model. We used this method to analyze markers on chromosomes 1 through 21 of the Collaborative Study on the Genetics of Alcoholism data on alcoholism for possible association and linkage. We found nominal significance (at the 0.02 level) at eight different regions for linkage, though statistical significance may not be concluded due to multiple testing. The strongest evidence of linkage was observed for markers D4S2639 and D12S397 with p‐values less than 0.005. We also found strong association between the trait and alleles 149 of D7S691 and 131 of D21S1437.
Model‐based and model‐free multipoint genome‐wide linkage analysis of alcoholism
Authors: Jacobs Kevin B. , Wedig Geoffrey C. , Schnell Audrey H. , Witte John S. , Elston Robert C.
Published: November 2013

We analyzed a subset of the Collaborative Study on the Genetics of Alcoholism (COGA) data set as provided by the 11th Genetic Analysis Workshop (GAW11). Linkage analyses were performed using each of the diagnostic criteria for alcoholism included in the data: the COGA criteria (DSM‐III‐R plus the Feighner criteria) and the narrower World Health Organization diagnosis ICD‐10 criteria. Formal segregation analysis using these data was not attempted because only a subset of all the originally ascertained families was made available. Nevertheless, an attempt was made to estimate the best one‐locus two‐allele genetic model for these data. Model‐based multipoint linkage analysis was performed using the results of our trait model fitting, and model‐free multipoint linkage analysis was performed with an improved version of the Haseman and Elston linkage method for sib pairs.
A semiquantitative whole genome screen analysis of alcohol dependence
Authors: John S. , Myerscough A. , Worthington J. , Barrett J.H.
Published: November 2013

Two whole genome screens were applied to sibling pairs from the Collaborative Study on the Genetics of Alcoholism (COGA) family data to compare a semiquantitative method with a standard qualitative approach. The semiquantitative method used a score derived from 11 symptoms, and the qualitative approach used the COGA criteria for alcohol dependence. There was no concordance in the regions identified by the two models. Three regions of nominal significance were identified using the symptom score. In these three regions, correlated traits were also analyzed to determine whether linkage could be attributed to their intermediate effect. The evidence for linkage to one locus on chromosome 6 could be explained by linkage to the personality trait harm avoidance.
Alcoholism as a complex trait: Comparison of genetic models and role of epidemiological risk factors
Authors: Macciardi Fabio , Morenghi Emanuela , Morabito Alberto
Published: November 2013

A genetic component for alcoholism appears likely, but the genes involved have yet to be identified. The mode of inheritance is probably more complex than for traditional mendelian disorders. In particular, there are marked differences in alcoholism by gender, parent‐of‐origin effects, ethnicity, and other epidemiological factors. We investigated the evidence for the presence of susceptibility genes for alcohol dependence in the Collaborative Study on the Genetics of Alcoholism data set.
Linkage of chromosome 1 markers to alcoholism‐related phenotypes by sib pair linkage analysis of principal components
Authors: Olson Jane M. , Rao Shaoqi , Jacobs Kevin , Elston Robert C.
Published: November 2013

Using the Collaborative Study on the Genetics of Alcoholism data and affected‐sib‐pair linkage methods, Reich et al. [1998] reported linkage of alcohol dependence to a region near D1S1588 on chromosome 1. In this paper, we assessed the ability of multivariate sib‐pair linkage analysis of the neurophysiologic measurements (including age and sex) to evaluate evidence for linkage to chromosome 1. Principal components of 16 neurophysiologic measurements, plus age and sex, were analyzed separately using sib‐pair linkage analysis, and a cumulative sum of the resulting r‐statistics computed at each point on the chromosome. The first four principal components, which accounted for 74% of the total variation, showed little or no evidence for linkage in the D1S1588 region, while the remaining components showed substantial evidence for linkage. We conclude that potentially important linkage results can be missed if investigators limit attention only to major sources of variability.
Genome scans for genetic predisposition to alcoholism by use of transmission disequilibrium test analyses
Authors: Page Grier P. , King Terri M. , Barnholtz Jill S. , Andrade Mariza De , Peterson Leif E. , Amos Christopher I.
Published: November 2013

We report the results of the analysis of three measures of alcoholism and six associated symptoms using transmission disequilibrium (TDT) analysis on data from the Collaborative Study on the Genetics of Alcoholism data set. Implementation of identity‐by‐state (IBS) routines for error checking revealed 10 reported full siblings that were rejected as a full sibling to all of their purported full siblings with p < 0.05. TDT analysis revealed two loci with significant transmission disequilibrium (p < 0.001) on chromosomes 1 and 7. Analysis by parental origin found alleles at three loci displaying significant disequilibrium in the transmission of the paternal alleles for at least three of the nine tested traits. These loci are on chromosomes 6, 9, and 13. Analyses of Caucasian families alone and the use of a single affected individual from each family also yielded significant results for the loci on chromosomes 6, 9, and 13.
Genome‐wide linkage analysis using genetic variance components of alcohol dependency‐associated censored and continuous traits
Authors: Palmer Lyle J. , Tiller Katrina J. , Burton Paul R.
Published: November 2013

We used variance‐components analysis to investigate the additive genetic effects regulating some of the phenotypes included in the GAW11 data set. Variance‐components models were fitted using Gibbs sampling methods in BUGS v 0.6. Linkage analyses for both multivariate normal (MvN) traits and right censored survival times (age‐of‐onset) were based upon standard Haseman‐Elston identity‐by‐descent sib‐pair methods applied directly to traits showing evidence of substantial additive genetic determination (residualized for any important covariates) and to the estimated σ2∧residuals for those traits. Harm avoidance behavior (TPQ subscale) showed evidence of linkage to markers on chromosomes 1, 13, and 18. P300 levels at the Fp1 site showed evidence of linkage to markers on chromosomes 2, 3, 9, 12, 17, 19, and 20. Platelet monoamine oxidase B (MAOB) levels showed evidence of linkage to D4S1651. The age‐of‐onset for ALDX1 in those over 30 years old showed evidence of linkage to markers on chromosomes 1, 6, 14, and 15. The age‐of‐onset for the more strictly defined ALDX2 in those over 30 years old showed evidence of linkage to markers on chromosomes 7 and 14. These results are consistent with a complex, multifactorial susceptibility to alcohol dependency.
Analyses of the COGA data set in one ethnic group with examinations of alternative definitions of alcoholism
Authors: Sheffield L.J. , Knauert M.P. , Pakstis A.J. , Zhao H. , Kidd K.K.
Published: November 2013

We used GENEHUNTER and GENEHUNTER‐PLUS to search for linkage with the markers in the Collaborative Study on the Genetics of Alcoholism (COGA) data set in a single ethnic group. Analyses of a complex disorder such as alcoholism depend on the definition of affection status. The COGA study provides two definitions of alcoholism (variables ALDX1 and ALDX2). To identify more severely affected alcoholics that might be more homogeneous genetically, we developed two other ways of characterizing subjects as alcohol dependent: (1) by combining the symptom variable values equally into a 24‐point scale and (2) by weighting optimally the symptoms and other descriptive variables into a single score using logistic regression. We applied these definitions within a single ethnic group to map alcoholism‐related loci. We found two regions on chromosome 1 that have adjacent markers significant at p‐values ≤ 0.05. ALDX1 provided the highest Z‐scores compared to the alternatives.