bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diastereoselective Methyl Orthoformate Alkylations of Chiral N‐Acylthiazolidinethiones Catalyzed by Nickel(II) Complexes
Authors: Romo Juan Manuel , Gálvez Erik , Nubiola Ignasi , Romea Pedro , Urpí Fèlix , Kindred Max 
Published: October 2013

AbstractThe completely diastereoselective silyl triflate‐mediated methyl orthoformate alkylation of chiral N‐acyl‐4‐isopropyl‐1,3‐thiazolidine‐2‐thiones catalyzed by commercially available nickel(II) complexes is reported. The simple experimental procedure requires 2.5–5 mol% of bis(phosphine)nickel dichloride [(R3P)2NiCl2] complexes, proceeds under very mild conditions, and covers a wide array of acyl groups. Furthermore, it can potentially be expanded to different electrophiles.magnified image
Synthesis of 1H‐Indole‐3‐carboxamidines through a Palladium‐Catalyzed Three‐Component Reaction Involving Isocyanide Insertion as a Key Step
Authors: Hu Ziwei , Wang Jian , Liang Dongdong , Zhu Qiang 
Published: October 2013

AbstractA three‐component reaction involving isocyanides, o‐alkynyltrifluoroacetanilides, and amines for the efficient synthesis of 2‐substituted 1H‐indole‐3‐carboxamidines has been developed. The reaction proceeds through intramolecular aminopalladation of alkynes activated by isocyanide‐ligated palladium(II) species. Dioxygen acts as the sole oxidant to regenerate the active palladium(II) species.magnified image
Gold‐Catalyzed Hydroarylation of Aryl Alkynylphosphonates for the Synthesis of Phosphacoumarins
Authors: Kim Cheol‐Eui , Ryu Taekyu , Kim Sanghyuck , Lee Kooyeon , Lee Chang‐Hee , Lee Phil Ho 
Published: October 2013

AbstractIntramolecular hydroarylation using aryl alkynylphosphonates proceeds smoothly with a gold/silver catalyst in the presence of trifluoromethanesulfonic acid (TfOH) in the 6‐endo mode, thus affording a unique synthetic method for phosphacoumarins having various functional groups, which could be a privileged structure and prevalent scaffold in phosphorus heterocycles.magnified image
Decatungstate Photocatalyzed Benzylation of Alkenes with Alkylaromatics
Authors: Qrareya Hisham , Ravelli Davide , Fagnoni Maurizio , Albini Angelo 
Published: October 2013

AbstractThe direct benzylation of electrophilic alkenes with alkylbenzenes has been achieved by decatungstate photocatalysis in a high ionic strength medium (5:1 acetonitrile/water mixed solvents, 0.5 M lithium perchlorate). The reaction has been extended to ring‐substituted (Cl, F, CN) toluenes and further alkylbenzenes. Intramolecular selectivity (p‐cymene, 4‐methylanisole) and deuteration effects support the atom transfer character of the process that, however, requires a sufficient stabilization of the intermediate polar exciplex to occur. The reactivity of the decatungstate anion is compared with that of aromatic ketones, the benchmark of photochemical hydrogen/electron transfer processes.magnified image
Copper‐Catalyzed Asymmetric Alkylation of β‐Keto Esters with Xanthydrols
Authors: Trillo Paz , Baeza Alejandro , Nájera Carmen 
Published: October 2013

AbstractThe copper(II) triflate‐tert‐butyl‐bisoxazoline [Cu(OTf)2‐t‐Bu‐BOX]‐catalyzed asymmetric alkylation of β‐keto esters using free benzylic alcohols such as xanthydrols, as alkylating agents, is herein described for the first time. This green protocol renders in general the corresponding products with good results in terms of both yields and enantioselectivities using different keto esters, even when quaternary stereocenters were created. The scope, limitations and mechanistic aspects of the process are also discussed.magnified image
Synthesis and Suzuki–Miyaura Cross‐Coupling of Enantioenriched Secondary Potassium β‐Trifluoroboratoamides: Catalytic, Asymmetric Conjugate Addition of Bisboronic Acid and Tetrakis(dimethylamino)diboron to α,β‐Unsaturated Carbonyl Compounds
Authors: Molander Gary A. , Wisniewski Steven R. , Hosseini‐Sarvari Mona 
Published: October 2013

AbstractEnantioenriched potassium β‐trifluoroboratoamides have been synthesized via an asymmetric, copper‐catalyzed 1,4‐addition of tetrahydroxydiboron (BBA) and tetrakis(dimethylamino)diboron to α,β‐unsaturated amides. These dibora reagents provide access to the desired organotrifluoroborates using effective and atom economical sources of boron. The copper‐catalyzed β‐boration is extended to α,β‐unsaturated ketones and esters. The desired potassium organotrifluoroborates are synthesized with yields up to 92% and enantiomeric ratios up to 98:2. The enantioenriched potassium β‐trifluoroboratoamides are successfully cross‐coupled with an array of aryl and heteroaryl chlorides in high yield with complete stereochemical fidelity as the transmetalation proceeds through an SE2 mechanism via an open transition state.magnified image
Dehydrogenative Cross‐Coupling of Primary and Secondary Alcohols
Authors: Musa Sanaa , Ackermann Lutz , Gelman Dmitri 
Published: October 2013

AbstractHomo‐ and cross‐coupling of alcohols resulting in the formation of the corresponding ketones in very good to excellent yield was realized through the one‐pot sequence of dehydrogenation/aldol condensation/hydrogenation accompanied by the release of molecular hydrogen. The dehydrogenation and hydrogenation steps are catalyzed by the previously reported ruthernium‐ and iridium‐based ligand‐metal cooperating catalysts.magnified image
An atmosphere‐switching polymerization process: A novel strategy to advanced polyolefin materials
Authors: Tian Zhou , Gu Xue‐Ping , Feng Lian‐Fang , Fan Zhi‐Qiang , Hu Guo‐Hua 
Published: October 2013

SignificanceWe report on a novel atmosphere‐switching polymerization process (ASPP) that produces advanced polyolefin materials with high performance in a single polymerization reactor through unique monomer feeding policies. In the ASPP, each polymer particle is exposed to “atmosphere A” and “atmosphere B” in an alternating manner and time and again. As a result, “polymer A” and “polymer B” are formed within the polymer particle in an alternating manner and time and again too. Two types of polypropylene (PP) in‐reactor alloys are prepared: impact polypropylene copolymers (IPCs) with an exceptional stiffness‐toughness balance and soft polypropylene alloys (SPPs) with well‐defined, high‐rubber content sticking‐free particles. © 2013 American Institute of Chemical Engineers AIChE J, 59: 4468–4473, 2013
Chloroform hydrodechlorination behavior of alumina‐supported Pd and PdAu catalysts
Authors: Velázquez Juan C. , Leekumjorn Sukit , Nguyen Quang X. , Fang Yu‐Lun , Heck Kimberly N. , Hopkins Gary D. , Reinhard Martin , Wong Michael S. 
Published: October 2013

SignificanceChloroform is a common groundwater contaminant that is very difficult to remove. Chemically converting it into a less toxic form through heterogeneous catalysis is an attractive approach over conventional physical removal methods if it can be done economically. In this study, we explore the efficacy of supported precious metal catalysts for chloroform hydrodechlorination. We find that Pd/Al2O3 is catalytically active for this reaction (6.4 L/gPd/min) at room temperature, atmospheric pressure, in buffered water, and in the presence of hydrogen gas, and that Pd deposited on commercial Au/Al2O3 shows activities as high as 22.4 L/gPd/min, suggestive of some Pd metal located on top of Au domains. The primary reaction product is methane, with selectivity values exceeding 90%. Surface‐enhanced Raman spectroscopy shows evidence of chloroform adsorption and dechlorination on the catalyst surface under aqueous conditions. The results highlight the potential of ambient‐condition reductive catalysis to remove chloroform from water. © 2013 American Institute of Chemical Engineers AIChE J, 59: 4474–4482, 2013
Skeletal variability in the pelvis and limb skeleton of humans: Does stabilizing selection limit female pelvic variation?
Authors: Kurki Helen K. 
Published: October 2013

ABSTRACTObjectivesThis study tests the hypothesis, a correlate of the obstetric dilemma, that skeletal variability in the human female pelvic canal is limited owing to the action of stabilizing selection. Levels of variation in three skeletal regions (pelvic canal, noncanal pelvis, and limbs) of females and males are compared to each other and between sexes.MethodsNine human skeletal samples (total female n = 101; male n = 117) representing diverse populations were included. Osteometric data were collected from the articulated pelvis, os coxa, sacrum, femur, tibia, humerus, radius, and clavicle. Coefficients of variation, adjusted for small sample size (V*), were calculated for variables in separate samples by sex, and mean V*s were taken for the skeletal regions. Size variances were measured as V* of the geometric mean (GM) of the skeletal region variables. Using nonparametric methods, coefficients were compared between sexes and skeletal regions and correlations among V*s were calculated.ResultsFemales and males do not differ in levels of variation for any skeletal region. The pelvic canal is the most variable region in both sexes, while size variability (GM) is similar among the three skeletal regions. Across the samples, canal and noncanal pelvic regions share patterns of variability in females but not males, while variability of the limb skeleton is independent in both sexes.ConclusionsThe results suggest that stabilizing selection does not limit variability in the female pelvic canal. Biological plasticity may be greater in the canal than that in other skeletal regions. Am. J. Hum. Biol. 25:795–802, 2013. © 2013 Wiley Periodicals, Inc.
High hsCRP is associated with reduced lung function in structural firefighters
Authors: Gaughan Denise M. , Christiani David C. , Hughes Michael D. , Baur Dorothee M. , Kobzik Lester , Wagner Gregory R. , Kales Stefanos N. 
Published: October 2013

AbstractBackgroundTo assess the association between markers of systemic inflammation and pulmonary function in a population of structural firefighters.MethodsWe studied male career members of a large Midwestern fire department with questionnaires, spirometry, and high‐sensitivity C‐reactive protein (hsCRP) as a biomarker of systemic inflammation. We examined percent predicted forced expiratory volume in 1 s (FEV1%‐predicted) and forced vital capacity (FVC%‐predicted).ResultsComplete data were available for 401 firefighters. Higher hsCRP levels were associated with lower lung function values, after adjusting for confounding variables. Specifically, for every twofold increase in log10‐hsCRP, FEV1%‐predicted decreased by a mean 1.5% (95% CI: 0.4, 2.6%) and FVC%‐predicted decreased by a mean 1.4% (95% CI: 0.4, 2.3%).ConclusionhsCRP as a biomarker of systemic inflammation may indicate reduced lung function in structural firefighters. Am. J. Ind. Med. 57:31–37, 2014. © 2013 Wiley Periodicals, Inc.
Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis
Authors: Peddibhotla Sirisha , Khalifa Mohamed , Probst Frank J. , Stein Jennifer , Harris Leslie L. , Kearney Debra L. , Vance Gail H. , Bull Marilyn J. , Grange Dorothy K. , Scharer Gunter H. , Kang Sue‐Hae L. , Stankiewicz Pawel , Bacino Carlos A. , Cheung Sau W. , Patel Ankita 
Published: October 2013

AbstractStructural rearrangements of chromosome 19p are rare, and their resulting phenotypic consequences are not well defined. This is the first study to report a cohort of eight patients with subtelomeric 19p13.3 microdeletions, identified using clinical chromosomal microarray analysis (CMA). The deletion sizes ranged from 0.1 to 0.86 Mb. Detailed analysis of the patients' clinical features has enabled us to define a constellation of clinical abnormalities that include growth delay, multiple congenital anomalies, global developmental delay, learning difficulties, and dysmorphic facial features. There are eight genes in the 19p13.3 region that may potentially contribute to the clinical phenotype via haploinsufficiency. Moreover, in silico genomic analysis of 19p13.3 microdeletion breakpoints revealed numerous highly repetitive sequences, suggesting LINEs/SINEs‐mediated events in generating these microdeletions. Thus, subtelomeric 19p13.3 appears important for normal embryonic and childhood development. The clinical description of patients with deletions in this genomic interval will assist clinicians to identify and treat individuals with similar deletions. © 2013 Wiley Periodicals, Inc.
A patient with a unique frameshift mutation in GPC3, causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle
Authors: Villarreal Diana D. , Villarreal Humberto , Paez Ana Maria , Peppas Dennis , Lynch Jane , Roeder Elizabeth , Powers George C. 
Published: October 2013

AbstractWe present a Hispanic male with the clinical and molecular diagnosis of Simpson–Golabi–Behmel syndrome (SGBS). The patient was born with multiple anomalies not entirely typical of SGBS patients, including penoscrotal hypospadias, a large prostatic utricle, and left coronal craniosynostosis. In addition, he demonstrated endocrine anomalies including a low random cortisol level suspicious for adrenal insufficiency and low testosterone level. To our knowledge, this is the first report of a prostatic utricle in SGBS and the second report of craniosynostosis. The unique disease‐causing mutation likely arose de novo in the mother. It is a deletion‐insertion that leads to a frameshift at the p.S349 residue of GPC3 and a premature stop codon after five more amino acids. P.S349 is the same residue that is normally cleaved by the Furin convertase, although the significance of this novel mutation with respect to the patient's multiple anomalies is unknown. We present this case as the perinatal course of a patient with unique features of SGBS and a confirmed molecular diagnosis. © 2013 Wiley Periodicals, Inc.
Congenital heart defects in oculodentodigital dysplasia: Report of two cases
Authors: Izumi Kosuke , Lippa Andrew M. , Wilkens Alisha , Feret Holly A. , McDonald‐McGinn Donna M. , Zackai Elaine H. 
Published: October 2013

ABSTRACTOculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4–5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4–5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.
Perspectives on RAGE signaling and its role in cardiovascular disease
Authors: Cohen M. Michael 
Published: October 2013

AbstractRAGE stands for Receptor of Advanced Glycation Endproducts. The two main topics discussed are (1) the nature of RAGE signaling and (2) its role in cardiovascular disease. RAGE may occur in membrane‐bound form or in secretory form. RAGE signaling involves multiple ligands: (1) several AGEs (2) amyloid β pecursor protein (APP), (3) high mobility group box 1 (HMGB1), (4) S100A4, (5) S100A8/A9, and (6) S100A12, which are calcium‐binding proteins, and (7) S100B, a glial‐derived protein. RAGE ligands and various diseases involving RAGE signaling are summarized in tabular form. © 2013 Wiley Periodicals, Inc.
Historical perspective on developmental concepts and terminology
Authors: Opitz John M. , Neri Giovanni 
Published: October 2013

AbstractIn their ontogeny and phylogeny all living beings are historical entities. The revolution in biology of the 18th and 19th centuries that did away with thescala naturaeaccording to which we humans, the acme of creation, “made a little lower than the angels,” also led to the gradual realization that a humble one‐celled protist (“protoctist”), such asEntamoeba histolyticaof ill repute [Margulis and Chapman,] has the same 4‐billion‐year phylogeny as that ofHomo sapiens, vivid testimony to common ancestry and the relatedness of all living beings on earth. The group of medical geneticists who assembled at the NIH, Bethesda, MD this January to address terms pertaining to human ontogeny, did so in the long tradition of Sydenham, Linnaeus, Meckel, Geoffroy St‐Hilairepère et fils, Wilhelm His and so many others before who had over the previous two centuries wrestled as earnestly as they could with concepts of “classification” and nomenclature of developmental anomalies. The prior massive need for classificationper sein medical morphology has diminished over the years in favor of ever more sophisticated understanding of pathogenesis and cause through experimental biology and genetics; however, in the winter of 2013 it was still found prudent to respect terminological precedent on general terms while recognizing recent advances in developmental pathology requiring clarification and definition of special terms. Efforts along similar lines instigated by the German Society of Anatomists at their first meeting in Leipzig in 1887 culminated, after intense years of work by hundreds of experts and consultants under the goad of Wilhelm His, in the BaselNomina Anatomica[BNA, His (1895)]. His, himself, stated prefatorily that the BNA had no legislative weight, only an evanescent consensus of many to be amended in the future as needed and indicated. Without hubris, no one before or after will do the same. The more substantial the consensus the more permanent the structure. After some 120 years the BNA is alive and flourishing. Now retitledTerminologia Anatomica, it has been amended and added to many times, is still in Latin but now with synonyms in English, the newlingua francaof science, for every anatomical, histological and embryological term. May our successors be equally effective. © 2013 Wiley Periodicals, Inc.
Solving the puzzle of spinal muscular atrophy: What are the missing pieces?
Authors: Tiziano Francesco Danilo , Melki Judith , Simard Louise R. 
Published: October 2013

AbstractSpinal muscular atrophy (SMA) is an autosomal recessive, lower motor neuron disease. Clinical heterogeneity is pervasive: three infantile (type I–III) and one adult‐onset (type IV) forms are recognized. Type I SMA is the most common genetic cause of death in infancy and accounts for about 50% of all patients with SMA. Most forms of SMA are caused by mutations of the survival motor neuron (SMN1) gene. A second gene that is 99% identical to SMN1 (SMN2) is located in the same region. The only functionally relevant difference between the two genes identified to date is a C → T transition in exon 7 of SMN2, which determines an alternative spliced isoform that predominantly excludes exon 7. Thus, SMN2 genes do not produce sufficient full length SMN protein to prevent the onset of the disease. Since the identification of the causative mutation, biomedical research of SMA has progressed by leaps and bounds: from clues on the function of SMN protein, to the development of different models of the disease, to the identification of potential treatments, some of which are currently in human trials. The aim of this review is to elucidate the current state of knowledge, emphasizing how close we are to the solution of the puzzle that is SMA, and, more importantly, to highlight the missing pieces of this puzzle. Filling in these gaps in our knowledge will likely accelerate the development and delivery of efficient treatments for SMA patients and be a prerequisite towards achieving our final goal, the cure of SMA. © 2013 Wiley Periodicals, Inc.
Epigenetics, fragile X syndrome and transcriptional therapy
Authors: Tabolacci Elisabetta , Chiurazzi Pietro 
Published: October 2013

AbstractEpigenetics refers to the study of heritable changes in gene expression that occur without a change in DNA sequence. Epigenetic mechanisms therefore include all transcriptional controls that determine how genes are expressed during development and differentiation, but also in individual cells responding to environmental stimuli. The purpose of this review is to examine the basic principles of epigenetic mechanisms and their contribution to human disorders with a particular focus on fragile X syndrome (FXS), the most common monogenic form of developmental cognitive impairment. FXS represents a prototype of the so‐called repeat expansion disorders due to “dynamic” mutations, namely the expansion (known as “full mutation”) of a CGG repeat in the 5′UTR of the FMR1 gene. This genetic anomaly is accompanied by epigenetic modifications (mainly DNA methylation and histone deacetylation), resulting in the inactivation of the FMR1 gene. The presence of an intact FMR1 coding sequence allowed pharmacological reactivation of gene transcription, particularly through the use of the DNA demethylating agent 5′‐aza‐2′‐deoxycytydine and/or inhibitors of histone deacetylases. These treatments suggested that DNA methylation is dominant over histone acetylation in silencing the FMR1 gene. The importance of DNA methylation in repressing FMR1 transcription is confirmed by the existence of rare unaffected males carrying unmethylated full mutations. Finally, we address the potential use of epigenetic approaches to targeted treatment of other genetic conditions. © 2013 Wiley Periodicals, Inc.
Developmental disease and cancer: Biological and clinical overlaps
Authors: Bellacosa Alfonso 
Published: October 2013

AbstractNumerous parallelisms exist between development and cancer. In this article, I review some of the founding ideas linking development and cancer, and highlight clinical conditions exhibiting features of both developmental derangement and cancer predisposition, including cohesinopathies, rasopathies, phakomatoses, Proteus syndrome and other overgrowth disorders, recessive chromosome breakage syndromes, and dominant hereditary cancer syndromes. I suggest that these disorders encompass a continuous spectrum spanning clinical genetics and clinical oncology, and derive some general implications that might be useful in the future for the treatment of these diseases. © 2013 Wiley Periodicals, Inc.