bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria
Authors: Marangi Giuseppe , Ricciardi Stefania , Orteschi Daniela , Lattante Serena , Murdolo Marina , Dallapiccola Bruno , Biscione Chiara , Lecce Rosetta , Chiurazzi Pietro , Romano Corrado , Greco Donatella , Pettinato Rosa , Sorge Giovanni , Pantaleoni Chiara , Alfei Enrico , Toldo Irene , Magnani Cinzia , Bonanni Paolo , Martinez Federica , Serra Gigliola , Battaglia Domenica , Lettori Donatella , Vasco Gessica , Baroncini Anna , Daolio Cecilia , Zollino Marcella 
Published: June 2011

AbstractPitt‐Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies. Following the discovery of the causative haploinsufficiency of transcription factor 4 (TCF4), about 60 patients have been reported. We looked for TCF4 mutations in 63 patients with a suspected PTHS. Haploinsufficiency of TCF4 was identified in 14 patients, as a consequence of large 18q21.2 chromosome deletions involving TCF4 (2 patients), gene mutations (11 patients) and a t(14q;18q) balanced translocation disrupting TCF4 (one patient). By evaluating the clinical features of these patients, along with literature data, we noticed that, in addition to the typical facial gestalt, the PTHS phenotype results from the various combinations of the following characteristics: intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. Although PTHS is currently considered to be involved in differential diagnosis with Angelman and Rett syndromes, we found that combining the facial characteristics with a detailed analysis of both the physical and the neurological phenotype, made molecular testing for PTHS the first choice. Based on striking clinical criteria, a diagnosis of PTHS was made clinically in two patients who had normal TCF4. This report deals with the first series of PTHS patients of Italian origin. © 2011 Wiley‐Liss, Inc.
Population history of the Red Sea—genetic exchanges between the Arabian Peninsula and East Africa signaled in the mitochondrial DNA HV1 haplogroup
Authors: Musilová Eliška , Fernandes Verónica , Silva Nuno M. , Soares Pedro , Alshamali Farida , Harich Nourdin , Cherni Lotfi , Gaaied Amel Ben Ammar El , Al‐Meeri Ali , Pereira Luísa , Černý Viktor 
Published: June 2011

AbstractArchaeological studies have revealed cultural connections between the two sides of the Red Sea dating to prehistory. The issue has still not been properly addressed, however, by archaeogenetics. We focus our attention here on the mitochondrial haplogroup HV1 that is present in both the Arabian Peninsula and East Africa. The internal variation of 38 complete mitochondrial DNA sequences (20 of them presented here for the first time) affiliated into this haplogroup testify to its emergence during the late glacial maximum, most probably in the Near East, with subsequent dispersion via population expansions when climatic conditions improved. Detailed phylogeography of HV1 sequences shows that more recent demographic upheavals likely contributed to their spread from West Arabia to East Africa, a finding concordant with archaeological records suggesting intensive maritime trade in the Red Sea from the sixth millennium BC onwards. Closer genetic exchanges are apparent between the Horn of Africa and Yemen, while Egyptian HV1 haplotypes seem to be more similar to the Near Eastern ones. Am J Phys Anthropol 2011. © 2011 Wiley‐Liss, Inc.
Climate‐related variation of the human nasal cavity
Authors: Noback Marlijn L. , Harvati Katerina , Spoor Fred 
Published: June 2011

AbstractThe nasal cavity is essential for humidifying and warming the air before it reaches the sensitive lungs. Because humans inhabit environments that can be seen as extreme from the perspective of respiratory function, nasal cavity shape is expected to show climatic adaptation. This study examines the relationship between modern human variation in the morphology of the nasal cavity and the climatic factors of temperature and vapor pressure, and tests the hypothesis that within increasingly demanding environments (colder and drier), nasal cavities will show features that enhance turbulence and air‐wall contact to improve conditioning of the air. We use three‐dimensional geometric morphometrics methods and multivariate statistics to model and analyze the shape of the bony nasal cavity of 10 modern human population samples from five climatic groups. We report significant correlations between nasal cavity shape and climatic variables of both temperature and humidity. Variation in nasal cavity shape is correlated with a cline from cold–dry climates to hot–humid climates, with a separate temperature and vapor pressure effect. The bony nasal cavity appears mostly associated with temperature, and the nasopharynx with humidity. The observed climate‐related shape changes are functionally consistent with an increase in contact between air and mucosal tissue in cold–dry climates through greater turbulence during inspiration and a higher surface‐to‐volume ratio in the upper nasal cavity. Am J Phys Anthropol 2011. © 2011Wiley‐Liss, Inc.
DJ‐1 modulates the expression of Cu/Zn‐superoxide dismutase‐1 through the Erk1/2–Elk1 pathway in neuroprotection
Authors: Wang Zhiquan , Liu Jun , Chen Siyan , Wang Ying , Cao Li , Zhang Yu , Kang Wenyan , Li Hui , Gui Yaxing , Chen Shengdi , Ding Jianqing 
Published: June 2011

AbstractObjective:Loss of function mutations of Park7/DJ‐1 gene increase the susceptibility of dopaminergic cells to reactive oxygen species and cause early onset familial Parkinson disease (PD). However, the mechanisms underlying dopaminergic neuron loss related to DJ‐1 mutation remain undefined. Therefore, it is important to find the new mechanisms underlying the antioxidative functions of DJ‐1.Methods:DJ‐1 knockdown cells and DJ‐1 knockout mice were used to elucidate the mechanisms underlying the antioxidative stress of DJ‐1. Preliminary study of the saliva from PD patients and controls was used to confirm our findings obtained from the above studies.Results:Our experiments showed that DJ‐1 interacted with Erk1/2 and was required for the nuclear translocation of Erk1/2 upon oxidative stimulation. The translocation of Erk1/2 activated Elk1 and sequentially promoted superoxide dismutase1 (SOD1) expression. The nuclear translocation of Erk1/2, the activation of Elk1, and the ensuing upregulation of SOD1 were all suppressed in DJ‐1 knockdown cells and DJ‐1 null mice treated with oxidative insult. Furthermore, reintroduction of SOD1 into DJ‐1 knockdown cells protected them against oxidative stress. Finally, in the preliminary study, we found close correlation between the protein levels of DJ‐1 and SOD1 in the saliva samples from different stages of PD patients.Interpretation:Our studies suggest that DJ‐1 regulates SOD1 expression through Erk1/2–Elk1 pathway in its protective response to oxidative insult. ANN NEUROL 2011
Enhancement of photocatalytic degradation of poly(vinyl chloride) with perchlorinated iron (II) phthalocyanine modified nano‐TiO2
Authors: Fa Wenjun , Gong Chuqing , Tian Lihong , Peng Tianyou , Zan Ling 
Published: June 2011

AbstractA novel photodegradable thin film of poly(vinyl chloride) (PVC) composite was prepared by embedding modified TiO2 nanoparticles into the commercial PVC. The photocatalyst nanoparticles were modified with perchlorinated iron (II) phthalocyanine (FePcCl16) to improve their photocatalytic activity. Solid‐phase photocatalytic degradation of the PVC‐FePcCl16‐TiO2 thin film was carried out under ultraviolet (UV) lamp or sunlight irradiation in atmosphere. The properties of composite films were compared with those of pure PVC film and poly(vinyl chloride)‐TiO2 (PVC‐TiO2) composite films through performing weight loss monitoring, scanning electron microscope and Fourier‐transform infrared spectroscopy. The results indicated that the degradation efficiency of PVC‐FePcCl16‐TiO2 composite film was significantly higher than that of pure PVC film and PVC‐TiO2 composite film under UV or sunlight irradiation. The photocatalytic degradation mechanism was discussed briefly. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
New approach for the polymerization of 2‐chloroethyl vinyl ether using a maghnite clay as eco‐catalyst
Authors: Chabani Malika , Yahiaoui Ahmed , Hachemaoui Aïcha , Belbachir Mohammed 
Published: June 2011

AbstractThe polymerization of 2‐chloro ethyl vinyl ether (CEVE) catalyzed by the Maghnite‐H (Mag‐H+) was investigated. Mag‐H+ is a Montmorillonite sheet silicate clay exanchanged with protons. It was found that the cationic polymerization of 2‐chloroethyl vinyl ether is initiated by Mag‐H+ at 20°C in bulk and in solution. The effect of the amount of Mag‐H+, the temperature and the solvent was studied. The polymerization rate increased with increase of the temperature and the proportion of catalyst, and it was higher in dichloromethane than that in toluene. It may be suggested that the polymerization is initiated by proton addition to monomer from Mag‐H+. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Optical and vibrational studies on single walled carbon nanotubes/short oligo‐para‐methoxy‐toluene composite
Authors: Said A. Haj , Ayachi S. , Chefia I. , Wéry J. , Alimi K. 
Published: June 2011

AbstractIn a solution state, an oligophenylene prepared by electrochemical oxidation of para‐methoxy‐toluene exhibited luminescence in the violet‐to‐blue region. However, in a solid state, a clear red shift was observed as a signature of a supramolecular π‐stacking interaction between oligomer chains. In a de‐doped state, by chemical reduction, a fine structure in the form of two peaks was observed and luminescence intensity was strongly improved. When mixed with single walled carbon nanotubes (SWNTs), a quenching in the luminescence intensity accompanied by a slight blue shift of the PL peak of the nanocomposite was observed. This implies the shortening of the oligomer's effective π‐conjugation length caused by the added amount of SWNTs. A charge transfer in the photo‐excited state was also noted. The interaction taking place between the two materials was supported by optical infrared absorption and Raman scattering measurements and then a functionalizing mechanism was proposed. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Microemulsion polymerization of microlatex in sublimation ink for cotton fabric ink jet printing
Authors: Chang Shiau‐Yin Peggy , Chao Yu‐Chou 
Published: June 2011

AbstractA novel microlatex of styrene/2‐ethylhexylacrylate (2‐EHA)/2‐hydroxyethyl methacrylate (2‐HEMA)/N‐(isobutoxy methyl) acrylamide (IBMA) copolymer was synthesized and mixed in sublimation inks to be inkjet printed on the cotton fabric to provide soft hand feel and good color fastness after heat‐press. In the optimized microemulsion composition with highest monomer mixture amount, polymerizable maleate surfactants with moderate EO value attained smaller microemulsion droplet size in mono distribution and lower dosage than conventional POE surfactants in combination with anionic surfactants. With adopted semicontinuous process in microemulsion copolymerization at 65°C, the polymerizable surfactants stabilized the growth of microlatex particle size within 70 nm in 240 min and attained 100% of monomer conversion rate with two initiator systems, 2‐2‐azobis(2‐methlypropionamidine dihydrochloride (AAPH) and tert‐butylhydroperoxide (TBHP)/sodium formaldehyde sulfoxylate (SFS). The microlatex particle size of two surfactant systems increased with higher conversion rate and reaction temperature, which synchronized with initiator concentration. High polymer solid content was contributed mainly by IBMA monomer ratio requiring higher amounts of anionic surfactants and 2‐HEMA as a cosurfactant in particle stabilization. Although the optimum ink containing high IBMA microemulsion exhibited small variation in viscosity, pH value and surface tension, disperse dyes in four colors had different interaction with the microlatex to demonstrate distinct printing durability and color performance. The resulted cotton fabric attained high K/S value for color strength, great AATCC grade for color fastness, and nearly zero color difference for negative dye particle diffusion or migration. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Oxyfold: A Simple and Efficient Solid‐Supported Reagent for Disulfide Bond Formation
Authors: Verdié Pascal , Ronga Luisa , Cristau Michèle , Amblard Muriel , Cantel Sonia , Enjalbal Christine , Puget Karine , Martinez Jean , Subra Gilles 
Published: June 2011

AbstractThe synthesis and use of novel polymer‐supported reagents for disulfide bond formation is described. This family of supported reagents consists of a series of oxidized methionines grafted onto a solid support. Their cost and the simplicity of their preparation through N‐carboxyanhydride polymerization on beads make them reactants of choice for the formation of disulfide bridges in peptides.
Variant origin of the superior thyroid artery in a Kenyan population
Authors: Ongeti Kevin W. , Ogeng'o Julius A. 
Published: June 2011

AbstractVariant anatomy of the superior thyroid artery is important during surgical procedures, interpretation of angiograms, and interventional radiography in the neck. Pattern of the variations shows population differences but there is no data from the Kenyan population. This study therefore investigated the variations in origin of the superior thyroid artery in a Kenyan population. Forty six necks (36 males and 10 females) from 46 cadavers of black Kenyans in Department of Human Anatomy University of Nairobi, Kenya were bilaterally dissected to expose the origin of the superior thyroid artery. Pattern of origin of the vessel was determined on both sides in males and females. It originated from the external carotid artery common carotid artery and linguo‐facial trunk in 80%, 13%, and 6.5% of the cadavers respectively on the right side. All but one of the superior thyroid arteries were ventral branches. There was asymmetric origin in 6.5% of cases. Origin from the common carotid artery was associated with high carotid bifurcation. Nearly 20% of superior thyroid arteries showed variant origin. Of these, 6.5% arose from the linguo‐facial trunk, much higher than in the Caucasian and Oriental populations. Origin from common carotid artery is substantially lower than prevailing figures from other populations. These findings support ethnic variations. Preoperative angiographic evaluation is recommended. Clin. Anat. 25:198–202, 2012. © 2011 Wiley‐Liss, Inc.
Parotidectomy—Anatomical considerations
Authors: Wang Steven J. , Eisele David W. 
Published: June 2011

AbstractThe parotid glands are paired major salivary glands and are located in the preauricular region. Parotidectomy is a surgical procedure that entails removal of all or a portion of the parotid gland. The most common indications for this operative procedure are a neoplasm of the parotid gland or metastases to parotid lymph nodes. An intimate knowledge of the anatomy of the parotid gland and related structures is necessary for the performance of safe and successful parotid surgery. This report will discuss the anatomy of the parotid gland as it pertains to parotid surgery and the avoidance of complications related to this surgery. Clin. Anat. 25:12–18, 2012. © 2011 Wiley‐Liss, Inc.
Synthesis and Photochemical Investigations of Tetrasubstituted Alkenes as Molecular Switches—The Effect of Substituents
Authors: Tietze Lutz F. , Düfert M. Alexander , Hungerland Tim , Oum Kawon , Lenzer Thomas 
Published: June 2011

AbstractMolecular switches based on helical tetrasubstituted alkenes, substituted with either electron‐withdrawing (CF3, F, CN; 2 a–c, 3 a,c) or ‐donating substituents (Me, OMe; 2 d,e), have been synthesized from acyclic precursors 4 and 5 in a domino carbopalladation/Stille reaction. This palladium‐catalyzed process allowed the rapid assembly of two CC bonds, two six‐membered rings, and the tetrasubstituted double bond in a completely diastereoselective fashion. The electronic effects of the substituents on the overall switching process were investigated by alternating irradiation of two different wavelength regions. Although the substituents had only a small influence on the absorption maxima, drastic differences in the switching behavior were observed.
High‐Intensity Fluorescence Imaging and Sensitive Electrochemical Detection of Cancer Cells by using an Extracellular Supramolecular Reticular DNA‐Quantum Dot Sheath
Authors: Zhong Hua , Zhang Qinglan , Zhang Shusheng 
Published: June 2011

AbstractActing as a cage‐type cellular probe, an extracellular supramolecular reticular DNA–quantum dot (QD) sheath has been developed for high‐intensity fluorescence microscopy imaging and the sensitive electrochemical detection of Ramos cells. The extracellular supramolecular reticular DNA–QD sheath is constructed from layer‐by‐layer self‐assembly of DNA–CdTe QD probes and DNA nanowire frameworks functionalized with a Ramos cell‐binding aptamer. The DNA–QD sheath forms specifically and quickly on the surface of Ramos cells at physiological temperature, and the assembly of large numbers of DNA–CdTe QD probes on the surface of Ramos cells produces exceedingly high fluorescence intensity. Using the extracellular supramolecular reticular DNA–QD sheath as the cellular probe, Ramos cells can be clearly observed and easily distinguished from a mixture of multiple cancer cells by fluorescence microscopy imaging. Using the new cage‐type cellular probe, a sensitive sandwich‐type electrochemical strategy has also been developed to achieve accurate quantitative analysis of Ramos cells. Under the optimized conditions, Ramos cells can be detected quantitatively in a range from 10 to 1000 cells with a detection limit of 10 cells. This strategy presents a promising platform for highly sensitive and convenient evaluation of cancer cell levels.
ChemInform Abstract: Magnetic and Crystallographic Studies of Mg‐Herbertsmithite, γ‐Cu3Mg(OH)6Cl2 — A New S = 1/2 Kagome Magnet and Candidate Spin Liquid.
Authors: Colman R. H. , Sinclair A. , Wills A. S. 
Published: June 2011

AbstractThe new quantum Kagome magnet of title is synthesized by hydrothermal reaction of Cu2(OH)2CO3 and MgCl2 (H2O, 190 °C, autoclave, 24 h; 98% yield).
ChemInform Abstract: Synthesis, Crystal Structure and Vibrational Spectroscopy of NH4[Co(NH3)5(H2O)] [B4O5(OH)4] 2·6H2O.
Authors: Lin Dan , You Xiaoyan , Zhu Lixia 
Published: June 2011

AbstractRed large single crystals of the new title compound are prepared from an aqueous solution of H3BO3, CoCl2, and NH4OH (pH 9, 25 °C, 3 d).
ChemInform Abstract: Highly Enantioselective Synthesis of Cyclic Sulfamidates and Sulfamides via Rhodium‐Catalyzed Transfer Hydrogenation.
Authors: Lee Sun Ah , Kwak Se Hun , Lee Kee‐In 
Published: June 2011

AbstractFacile one‐pot synthesis of cyclic N‐sulfonylimines (III) and (V) from α‐hydroxy ketones (I) and their highly enantioselective Rh‐catalyzed transfer hydrogenation furnishing cyclic 1,2‐sulfamidates (IV) or ‐sulfamides (VI) are described.
ChemInform Abstract: Palladium(II) Complexes of Y,C,Y‐Chelated Phosphines: Synthesis, Structure, and Catalytic Activity in Suzuki—Miyaura Reaction.
Authors: Reznicek Tomas , Dostal Libor , Ruzicka Ales , Kulhanek Jiri , Bures Filip , Jambor Roman 
Published: June 2011

AbstractThe catalytic activity of a variety of novel catalysts is tested in Suzuki cross coupling reaction.
ChemInform Abstract: Mild Method for the Selective Esterification of Carboxylic Acids Based on the Garegg—Samuelsson Reaction.
Authors: Morcillo Sara P. , Alvarez de Cienfuegos Luis , Mota Antonio J. , Justicia Jose , Robles Rafael 
Published: June 2011

AbstractA wide range of carboxylic acids reacts with primary alcohols and phenols to afford the corresponding esters in high yields.
ChemInform Abstract: Unexpected Preparation of (Z)‐Chloromethyleneketals and Their Sulfur Analogues by a Novel Three‐Component Condensation.
Authors: Schevenels Florian , Marko Istvan E. 
Published: June 2011

AbstractThe obtained chlorovinyl adducts can be further functionalized by metal‐catalyzed cross‐coupling reactions [cf.
ChemInform Abstract: Demethylation of Aromatic Methyl Ethers Using Ionic Liquids under Microwave Irradiation.
Authors: Passiniemi Mikko , Myllymaeki Mikko J. , Vuokko Juha , Koskinen Ari M. P. 
Published: June 2011

AbstractAn efficient demethylation reaction for aromatic methyl ethers is described.
ChemInform Abstract: Polyethylene Glycol‐Bound Ru Catalyst for Asymmetric Transfer Hydrogenation of Aromatic Ketones in Water.
Authors: Zhou Zhongqiang , Ma Qiong 
Published: June 2011

AbstractTitle transfer hydrogenation reaction proceeds smoothly for a range of aromatic ketones to give the corresponding alcohols (II) in excellent conversion and up to 92% optical purity.
ChemInform Abstract: Gallium(III)‐Catalyzed Bromocyanation of Alkynes: Regio‐ and Stereoselective Synthesis of β‐Bromo‐α,β‐unsaturated Nitriles.
Authors: Murai Masahito , Hatano Ryo , Kitabata Sachie , Ohe Kouichi 
Published: June 2011

AbstractThe synthetic utility of the obtained bromoacrylonitriles (III) is demonstrated by several cross‐coupling reactions of (IIIa) and its transformation into the biologically active heterocycles (VII) and (IX).
ChemInform Abstract: From Difluoromethyl 2‐Pyridyl Sulfone to Difluorinated Sulfonates: A Protocol for Nucleophilic Difluoro(sulfonato)methylation.
Authors: Prakash G. K. Surya , Ni Chuanfa , Wang Fang , Hu Jinbo , Olah George A. 
Published: June 2011

AbstractAn efficient method for the synthesis of alkyl α,α‐difluorosulfonates from primary alkyl halides is developed.
ChemInform Abstract: TBCA‐Mediated Microwave‐Assisted Hofmann Rearrangement.
Authors: Miranda Leandro S. M. , da Silva Thayane Rabello , Crespo Livia Tenorio , Esteves Pierre Mothe , de Matos Louise F. , Diederichs Carla C. , de Souza Rodrigo Octavio Mendonca Alves 
Published: June 2011

AbstractThe rearrangement is affected by a combination of heterocyclic brominating reagents such as NBS or TBA in the presence of an appropriate base.
ChemInform Abstract: Electrophilic Cyclization of Buta‐1,3‐diynylarenes: Synthesis of Precursors of (Z)‐3‐Ene‐1,5‐diyne Systems Fused to Heterocycles.
Authors: Danilkina Natalia A. , Braese Stefan , Balova Irina A. 
Published: June 2011

AbstractThiophenol, aniline and phenol derivatives are transformed to the corresponding 2‐ethynyl‐3‐iodo‐substituted heterocycles which are converted into the title systems.
ChemInform Abstract: Five‐Membered 2,3‐Dioxo Heterocycles. Part 72. Recyclization of Isopropyl 2‐(1‐Aryl‐4,5‐dioxo‐2‐phenyl‐4,5‐dihydro‐1H‐pyrrol‐3‐yl)‐2‐oxoacetates by the Action of Aliphatic Amines.
Authors: Dmitriev M. V. , Silaichev P. S. , Maslivets A. N. 
Published: June 2011

AbstractThe reaction is an example for the pyrrole‐pyrrole recyclization via cleavage of the dioxopyrrole ring and closure of the new dioxopyrrole ring by the action of alkylamines.
ChemInform Abstract: Synthesis of 2‐Aminoindole‐3‐carboxylic Acid Derivatives by the Copper(I) Iodide Catalyzed Reaction of N‐(2‐Iodophenyl)formamides with Malononitrile or Cyanoacetates.
Authors: Kobayashi Kazuhiro , Komatsu Toshihide , Yokoi Yuki , Konishi Hisatoshi 
Published: June 2011

AbstractAn efficient and concise method for the synthesis of the title compounds (III) is developed from readily available starting materials.
ChemInform Abstract: Synthesis of 3‐Aminoindole Derivatives: Combination of Thorpe—Ziegler Cyclization and Unexpected Allylindium‐Mediated Decyanation.
Authors: Kim Yu Mi , Kim Ko Hoon , Park Sunhong , Kim Jae Nyoung 
Published: June 2011

AbstractTreatment of nitriles (I) with aroyl chlorides results in formation of unexpected 3‐iminodihydroindoles via Thorpe—Ziegler cyclization.