bluuebunny/crossref_metadata_2025_split huggingface dataset:
Co‐occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome‐like phenotype
Authors: Ekvall Sara , Hagenäs Lars , Allanson Judith , Annerén Göran , Bondeson Marie‐Louise 
Published: May 2011

AbstractNoonan syndrome (NS) is a heterogeneous disorder caused by activating mutations in the RAS‐MAPK signaling pathway. It is associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity, and typical facial features and the inheritance is autosomal dominant. Here, we present a clinical and molecular characterization of a patient with Noonan‐like syndrome with loose anagen hair phenotype and additional features including mild psychomotor developmental delay, osteoporosis, gingival hyperplasia, spinal neuroblastoma, intrathoracic extramedullary hematopoiesis, and liver hemangioma. Mutation analysis of PTPN11, SOS1, RAF1, KRAS, BRAF, MEK1, MEK2, NRAS, and SHOC2 was conducted, revealing a co‐occurrence of two heterozygous previously identified mutations in the index patient. The mutation SHOC2 c.4A > G; p.Ser2Gly represents a de novo mutation, whereas, PTPN11 c.1226G > C; p.Gly409Ala was inherited from the mother and also identified in the brother. The mother and the brother present with some NS manifestations, such as short stature, delayed puberty, keratosis pilaris, café‐au‐lait spots, refraction error (mother), and undescended testis (brother), but no NS facial features, supporting the notion that the PTPN11 p.Gly409Ala mutation leads to a relatively mild phenotype. We propose that, the atypical phenotype of the young woman with NS reported here is an additive effect, where the PTPN11 mutation acts as a modifier. Interestingly, co‐occurrence of RAS‐MAPK mutations has been previously identified in a few patients with variable NS or neurofibromatosis‐NS phenotypes. Taken together, the results suggest that co‐occurrence of mutations or modifying loci in the RAS‐MAPK pathway may contribute to the clinical variability observed among NS patients. © 2011 Wiley‐Liss, Inc.
Is autosomal recessive Silver–Russel syndrome a separate entity or is it part of the 3‐M syndrome spectrum?
Authors: Akawi Nadia A. , Ali Bassam R. , Hamamy Hanan , Al‐Hadidy Azmy , Al‐Gazali Lihadh 
Published: May 2011

AbstractIntrauterine growth retardation (IUGR) is a nonspecific finding that occurs in approximately 0.17% of all live‐births. However, IUGR can also be a significant feature of many recognized genetic syndromes including Silver–Russel syndrome (SRS), Three M syndrome (3‐M), Dubowitz syndrome, and Mulibrey nanism. Differentiation of 3‐M syndrome from autosomal recessive SRS has been difficult because of the phenotypic variability of the latter. Limb length asymmetry is seen in over half of those with autosomal recessive SRS, but not in individuals with 3‐M syndrome. Characteristic radiologic findings of 3‐M syndrome are not present in SRS. We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of phenotypic features of SRS that shows autosomal recessive inheritance in three consanguineous families, two from United Arab Emirates (UAE), and one from Jordan. The mapped regions contained CUL7 and OBSL1, the genes that have recently been shown to cause 3‐M syndrome. Subsequently, direct DNA sequencing of CUL7 and OBSL1 genes revealed novel mutations in both genes including two mutations in OBSL1 [c.1119G>C (p.W373C) and c.681_682delinsTT (p.Q228X)], and a nonsense mutation in CUL7 [c.203G>A (p.W68X)]. In addition, a six nucleotide deletion in CUL7 [c.649_654delAGCCGC (p.217_218delSR)] was found in a consanguineous family from UAE that had the typical features of 3‐M. As a result of these findings, we question the identity of the autosomal recessive SRS and suggest that all apparently recessive SRS families should be tested for mutations in CUL7 and OBSL1. © 2011 Wiley‐Liss, Inc.
Human sinonasal epithelial cells direct dendritic function and T‐cell T helper 1/T helper 2 skewing following Aspergillus exposure
Authors: Mulligan Jennifer K. , Mulligan Ryan M. , Atkinson Carl , Schlosser Rodney J. 
Published: May 2011

AbstractBackgroundIn lower airway disease such as asthma, epithelial cells have been shown to be potent regulators of dendritic cell (DC) functions. However, it is unclear how human sinonasal epithelial cells (HSNECs) from patients with sinusitis regulate DC functions. Therefore, in these studies we investigated the ability of Aspergillus fumigatus exposed HSNECs to regulate DC antigen uptake, maturation, and direction of T‐cell T helper 1 (Th1)/Th2 skewing.MethodsPrimary HSNECs were cultured from control (n = 8), chronic sinusitis without nasal polyps (CRSsNP) (n = 9), and chronic sinusitis with nasal polyps (CRSwNP) (n = 7) patients and exposed to Aspergillus. Conditioned media was placed upon monocyte‐derived DCs from healthy controls. DC antigen uptake was assessed by dextran–fluorescein isothiocyanate (FITC) uptake. DC differentiation and maturation was assessed by immunostaining for CD209, CD80, and CD86 followed by flow cytometric analysis. DC direction of T‐cell Th1/Th2 skewing was evaluated by immunostaining followed by intracellular flow cytometric analysis for interferon (IFN)‐γ and interleukin (IL)‐5.ResultsControl and CRSsNP HSNECs have the capacity to stimulate DC antigen uptake, differentiation, and maturation following Aspergillus exposure. CRSwNP HSNECs stimulate DC activation independent of Aspergillus exposure. Furthermore, Aspergillus‐exposed CRSwNP HSNECs skew T‐cells toward a Th2 phenotype.ConclusionCRSwNP‐derived HSNECs stimulate DC maturation and Th2 skewing independent of Aspergillus exposure. However, control and CRSsNP HSNECs induce DC maturation and Th2 skewing after Aspergillus exposure. These in vitro studies demonstrate that HSNECs are key regulators of DC functions in the sinus microenvironment. © 2011 ARS‐AAOA, LLC.
Nanoporous silica polyamine composites for metal ion capture from rice hull ash
Authors: Berlin Matt , Allen Jesse , Kailasam Varadharajan , Rosenberg David , Rosenberg Edward 
Published: May 2011

AbstractRice hull ash (RHA) was converted to amorphous silica gel using a modified version of published literature procedures. The gels were characterized by a comparison of their Cross Polarization Magic Angle Spinning 29Si NMR and scanning electron microscopy images with commercial silica gels. The resulting gels were silanized with a 7.5:1 mixture of methyltrichlorosilane and chloropropyltrichlorosilane and then reacted with poly(allylamine) (PAA) to produce the silica polyamine composite (SPC) BP‐1. The BP‐1 was then further modified with pyridine‐2‐carboxaldehyde to form the copper‐selective SPC, CuSelect. This procedure follows that used to produce the commercialized version of these composite materials from commercially available amorphous silica gels. The composites were characterized by solid‐state NMR techniques, elemental analysis, SEM, porosimetry and metal ion capacity and selectivity. The overall goal of the project was to determine the feasibility of using RHA to make SPC. The observed strengths and weaknesses of this approach are discussed. Copyright © 2011 John Wiley & Sons, Ltd.
Preparation and characterization of maleated thermoplastic starch‐based nanocomposites
Authors: Raquez Jean‐Marie , Nabar Yogaraj , Narayan Ramani , Dubois Philippe 
Published: May 2011

AbstractBiodegradable nanoscale‐reinforced starch‐based products were prepared from an in situ chemically modified thermoplastic starch and poly(butylene adipate‐co‐terephthalate) (PBAT) through reactive processing. Natural montmorillonite (hydrophilic Cloisite Na) and organophilic Cloisite 30B were studied. In situ chemically modified thermoplastic starch (MTPS) was first prepared starting from (nano)clay (previously swollen in glycerol as plasticizer), and maleic anhydride (MA) as an esterification agent. Then, these nanoscale‐reinforced MTPS was reactively melt‐blended with PBAT through transesterification reactions promoted by MA‐derived acidic moieties grafted onto the starch backbone. The tensile and barrier properties of resulting (nano)composites were studied. High‐performance formulations with superior tensile strength (>35 MPa as compared with 16 MPa for the PBAT‐g‐MTPS copolymer) and break elongation (>800%) were obtained, particularly with Cloisite30B. Better water vapor and oxygen barrier properties of nanoscale‐reinforced MTPS‐g‐PBAT were achieved rather than the PRECURSORS. Wide angle X‐ray diffraction and transmission electronic microscopy analyses show that partial exfoliation of the clay platelets was observed within the PBAT‐g‐MTPS graft copolymer‐Cloisite 30B nanocomposite. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Dual‐responsive semi‐interpenetrating network beads based on calcium alginate/poly(N‐isopropylacrylamide)/poly(sodium acrylate) for sustained drug release
Authors: Sun Ximeng , Shi Jun , Zhang Zhengzheng , Cao Shaokui 
Published: May 2011

AbstractTo improve the mechanical strength of natural hydrogels and to obtain a sustained drug‐delivery device, temperature‐/pH‐sensitive hydrogel beads composed of calcium alginate (Ca‐alginate) and poly(N‐isopropylacrylamide) (PNIPAAm) were prepared in the presence of poly(sodium acrylate) (PAANa) with ultrahigh molecular weight (Mη ≥ 1.0 × 107) as a strengthening agent. The influence of PAANa content on the properties, including the beads stability, swelling, and drug‐release behaviors, of the hydrogels was evaluated. Scanning electron microscopy and oscillation experiments were used to analyze the structure and mechanical stability of the hydrogel beads, respectively. The results show that stability of the obtained Ca‐alginate/PNIPAAm hydrogel beads strengthened by PAANa the alginate/poly(N‐isopropyl acrylamide) hydrogel bead (SANBs) was significantly improved compared to that of the beads without PAANa (NANBs) at pH 7.4. The swelling behavior and drug‐release capability of the SANBs were markedly dependent on the PAANa content and on the environmental temperature and pH. The bead sample with a higher percentage of PAANa exhibited a lower swelling rate and slower drug release. The drug release profiles from SANBs were further studied in simulated intestinal fluid, and the results demonstrated here suggest that SANBs could serve as a potential candidate for controlled drug delivery in vivo. © 2011 Wiley Periodicals, Inc. J Appl Polym Sci, 2011
Reduction of in vitro invasion and in vivo cartilage degradation in a SCID mouse model by loss of function of the fibrinolytic system of rheumatoid arthritis synovial fibroblasts
Authors: Serratì Simona , Margheri Francesca , Chillà Anastasia , Neumann Elena , Müller‐Ladner Ulf , Benucci Maurizio , Fibbi Gabriella , Del Rosso Mario 
Published: May 2011

AbstractObjectiveUrokinase plasminogen activator (uPA), uPA receptor (uPAR), and PA inhibitor 1 (PAI‐1) have pivotal roles in the proliferation and invasion of several cell types, including synovial fibroblasts (SFs). The aim of this study was to investigate the possibility of controlling the invasion of rheumatoid arthritis (RA) SFs in vitro and in vivo by inhibiting uPA and uPAR.MethodsNormal SFs, SFs from patients with RA, and SFs from patients with psoriatic arthritis (PsA) were used. The levels of uPA, uPAR, and PAI‐1 were measured by enzyme‐linked immunosorbent assay and reverse transcription–polymerase chain reaction analysis of messenger RNA. The activity of uPA was studied by zymography. Proliferation was measured by cell counting, and cell invasion was measured with a Boyden chamber assembled with Matrigel‐coated porous filters. Human cartilage and RA SF implantation in the SCID mouse model of RA were used to study cartilage invasion in vivo.ResultsRA SFs and PsA SFs overexpressed uPAR and as a result were more active than their normal counterparts in terms of both Matrigel invasion and proliferation. This effect was counteracted by a specific inhibitor of uPA enzymatic activity (WX‐340) and by uPAR antisense treatment. The use of both WX‐340 and uPAR antisense treatment in vitro showed cooperative effects in RA SFs that were more intense than the effects of either treatment alone. Significant inhibition of cartilage invasion was obtained in vivo with uPAR antisense treatment, while uPA inhibition was inefficient, either alone or in combination with antisense treatment.ConclusionThe decrease in uPAR expression in RA SFs reduced invasion of human cartilage in vitro and in the SCID mouse model.
Institutional interactions: Exploring social, cognitive, and geographic relationships between institutions as demonstrated through citation networks
Authors: Yan Erjia , Sugimoto Cassidy R. 
Published: May 2011

AbstractThe objective of this research is to examine the interaction of institutions, based on their citation and collaboration networks. The domain of library and information science is examined, using data from 1965–2010. A linear model is formulated to explore the factors that are associated with institutional citation behaviors, using the number of citations as the dependent variable, and the number of collaborations, physical distance, and topical distance as independent variables. It is found that institutional citation behaviors are associated with social, topical, and geographical factors. Dynamically, the number of citations is becoming more associated with collaboration intensity and less dependent on the country boundary and/or physical distance. This research is informative for scientometricians and policy makers.
On the border of the homeotic function: Re‐evaluating the controversial role of cofactor‐recruiting motifs
Authors: Merabet Samir , Hudry Bruno 
Published: May 2011

AbstractIn this review we present concepts that challenge a recently emerging paradigm explaining how similar Hox proteins perform different developmental functions across evolution, despite relatively limited sequence variability. This paradigm relates to the transcription factor, Fushi tarazu (Ftz), whose evolutionary plasticity has been shown to rely on the shuffling between two short protein recognition motifs. We discuss the Ftz paradigm and consider alternative interpretations to the evolutionary flexibility of this Hox protein. In particular, we propose that the protein environment might have played a critical role in the functional shuffling of Ftz during arthropod evolution.
A unique case of renal artery fibromuscular dysplasia
Authors: Shetty Ranjith , Lotun Kapildeo 
Published: May 2011

AbstractFibromuscular dysplasia (FMD) is a noninflammatory, nonatherosclerotic disorder resulting in arterial stenosis. Here, a unique case of renal artery FMD (RA FMD) is presented. With the use of angiograpic and intravascular ultrasound (IVUS) imaging modalities, a patient was diagnosed with two distinct types of FMD. Until now, the prevalence of FMD has been underestimated due to limitations in diagnostic modalities. Clinically, the correct identification of RA FMD is essential because these patients have been shown to respond to revascularization therapy with significant improvement in blood pressure whereas renal artery lesions secondary to other etiologies such as atherosclerosis have yet to show the same consistent response. Further, the presence of two subtypes of FMD in a single patient may suggest the possibility of genetic factors that predispose certain vessels to certain subtypes of FMD.© 2011 Wiley‐Liss, Inc.
The ability to achieve complete revascularization is associated with improved in‐hospital survival in cardiogenic shock due to myocardial infarction: Manitoba cardiogenic shock registry investigators
Authors: Hussain Farrukh , Philipp Roger K. , Ducas Robin A. , Elliott Jason , Džavík Vladimír , Jassal Davinder S. , Tam James W. , Roberts Daniel , Garber Philip J. , Ducas John 
Published: May 2011

AbstractObjectives: To identify predictors of survival in a retrospective multicentre cohort of patients with cardiogenic shock undergoing coronary angiography and to address whether complete revascularization is associated with improved survival in this cohort. Background: Early revascularization is the standard of care for cardiogenic shock. Coronary bypass grafting and percutaneous intervention have complimentary roles in achieving this revascularization. Methods: A total of 210 consecutive patients (mean age 66 ± 12 years) at two tertiary centres from 2002 to 2006 inclusive with a diagnosis of cardiogenic shock were evaluated. Univariate and multivariate predictors of in‐hospital survival were identified utilizing logistic regression. Results: ST elevation infarction occurred in 67% of patients. Thrombolysis was administered in 34%, PCI was attempted in 62% (88% stented, 76% TIMI 3 flow), CABG was performed in 22% (2.7 grafts, 14 valve procedures), and medical therapy alone was administered to the remainder. The overall survival to discharge was 59% (CABG 68%, PCI 57%, medical 48%). Independent predictors of mortality included complete revascularization (P = 0.013, OR = 0.26 (95% CI: 0.09–0.76), hyperlactatemia (P = 0.046, OR = 1.14 (95% CI: 1.002–1.3) per mmol increase), baseline renal insufficiency (P = 0.043, OR = 3.45, (95% CI: 1.04–11.4), and the presence of anoxic brain injury (P = 0.008, OR = 8.22 (95% CI: 1.73–39.1). Within the STEMI with concomitant multivessel coronary disease subgroup of this population (N = 101), independent predictors of survival to discharge included complete revascularization (P = 0.03, OR = 2.5 (95% CI: 1.1–6.2)) and peak lactate (P = 0.02). Conclusions: The ability to achieve complete revascularization may be strongly associated with improved in‐hospital survival in patients with cardiogenic shock. © 2011 Wiley‐Liss, Inc.
Fungal endocarditis after transfemoral aortic valve implantation
Authors: Head Stuart J. , Dewey Todd M. , Mack Michael J. 
Published: May 2011

AbstractTranscatheter aortic valve implantation (TAVI) was introduced in 2006 as an alternative for surgical aortic valve replacement (SAVR) as treatment for patients with aortic stenosis. Endocarditis after TAVI has been anecdotally reported, but concerns aroused because SAVR is often needed to explant the endocarditic valve in a high risk patient previously deemed not to be a surgical candidate. We report a case of a patient who underwent TAVI because he was too high risk to undergo SAVR. Several months later, he developed an intermittent self‐limiting fever of unknown origin which eventually was diagnosed as endocarditis. The valve was surgically removed, and pathology showed an infection caused by Histoplasma capsulatum. The patient recovered fully and remains in good condition.© 2011 Wiley Periodicals, Inc.
On the Configuration of Five‐Membered Rings: A Spin–Spin Coupling Constant Approach
Authors: Napolitano José G. , Gavín José A. , García Celina , Norte Manuel , Fernández José J. , Hernández Daranas Antonio 
Published: May 2011

AbstractFive‐membered rings are clearly among the most common structural motifs found in chemistry and biology. Nevertheless, the configuration of conformationally mobile five‐membered rings is often difficult to assign from nuclear magnetic resonance (NMR) data. A simple, reliable, and efficient approach for the stereochemical analysis of five‐membered rings based on the measurement of NMR coupling constants is presented. Density functional theory calculations using representative conformations of the full conformational space available to rings with different substitution patterns were used to identify differences between the accessible coupling constant values for cis and trans relative orientations of the substituents. The calculations were assessed experimentally using NMR data obtained from a number of models. This approach can be easily used to analyze different five‐membered rings, such as oxolanes, cyclopentanes, furanosides and pyrrolidines, and their relative configuration can be determined without the need for making further conformational considerations.
ChemInform Abstract: Room Temperature Electroresistance in Sr2‐xGdxMnTiO6 Perovskites (0 ≤ x ≤ 1).
Authors: Biskup N. , Garcia‐Hernandez M. , Alvarez‐Serrano I. , Lopez M. L. , Veiga M. L. 
Published: May 2011

AbstractThe title perovskites with mixed Mn valence exhibit strong electroresistance at room temperature, which is confirmed to be not associated with heating.
ChemInform Abstract: Preparation, Characterization, Magnetic Susceptibility (Eu, Gd and Sm) and XPS Studies of Ln2ZrTiO7 (Ln: La, Eu, Dy and Gd).
Authors: Kumar B. Vijaya , Velchuri Radha , Devi V. Rama , Sreedhar B. , Prasad G. , Prakash D. Jaya , Kanagaraj M. , Arumugam S. , Vithal M. 
Published: May 2011

AbstractThe title compounds are prepared by the sol—gel method starting with Ln2O3 dissolved in HNO3, aqueous solutions of ZrO(NO3)2, and H2O2 solutions containing Ti powder and NH3 followed by heating of the obtained precursors (500—900 °C, 5 h).
ChemInform Abstract: Efficient Light‐Driven Carbon‐Free Cobalt‐Based Molecular Catalyst for Water Oxidation.
Authors: Hill Craig L. , et al. et al. 
Published: May 2011

Abstract[Co4(H2O)2 (PW9O34)2]10‐ is a hydrolytically and oxidatively stable, homogeneous, and efficient molecular catalyst for the visible‐light‐driven catalytic oxidation of water.
ChemInform Abstract: A New Salt of the Monoperoxocarbonic Acid: K2 (O2)CO2·3.5H2O2.
Authors: Hinrichs Friederike , Adam Arnold 
Published: May 2011

AbstractColorless needles of the new title compound are obtained from a solution of H2O2 and KHCO3 and characterized by single crystal XRD and Raman spectroscopy.
ChemInform Abstract: High‐Pressure Synthesis, Crystal Structure, and Characterization of Zn2PN3 — A New catena‐Polynitridophosphate.
Authors: Sedlmaier Stefan J. , Eberspaecher Moritz , Schnick Wolfgang 
Published: May 2011

AbstractZn2PN3 is synthesized from Zn3N2 and P3N5 in a multianvil apparatus (8 GPa, 1200 °C, 10 min) and characterized by powder XRD, FTIR, Raman, and 31P solid state MAS NMR spectroscopy.
ChemInform Abstract: Regular [Ti6]6‐ Cluster in Cs4Tl2O Exhibiting Closed‐Shell Configuration and Energetic Stabilization due to Relativistic Spin—Orbit Coupling.
Authors: Saltykov Vyacheslav , Nuss Juergen , Wedig Ulrich , Jansen Martin 
Published: May 2011

AbstractCs4Tl2O is synthesized by reaction of CsTl and Cs2O in the molar ratio 1:0.95 (Ta tube, 573 K, 7 d).
ChemInform Abstract: Li(H2O)2‐x [Zr2(PO4)3]: A Li‐Filled Langbeinite Variant (x = 0) as a Precursor for a Metastable Dehydrated Phase (x = 2).
Authors: Chen Shuang , Hoffmann Stefan , Weichert Katja , Maier Joachim , Prots Yurii , Zhao Jing‐Tai , Kniep Ruediger 
Published: May 2011

AbstractLi(H2O)2[Zr2(PO4)3] is synthesized by hydrothermal reaction of ZrCl4, Li2B4O7, and H3PO4 (HCl, H2O, pH 1, 180 °C, autoclave, 8 d; 60% yield).
ChemInform Abstract: Syntheses and Single‐Crystal Structures of CsTh(MoO4)2Cl and Na4Th(WO4)4.
Authors: Jin Geng Bang , Soderholm L. 
Published: May 2011

AbstractColorless crystals of CsTh(MoO4)2Cl (I) and Na4Th(WO4)4 (II) are synthesized by solid state reactions of either ThO2, MoO3, and excess CsCl, or ThCl4 and Na2WO4 (silica ampules, 993 K, 120 h).
ChemInform Abstract: An Unprecedented 3D 8‐Connected Pure Inorganic Framework Based on Nanosized {[Na12PO16H24]@ [P4Mo6O31H6] 4}15‐ Clusters and Zinc.
Authors: Du Dong‐Ying , Qin Jun‐Sheng , Li Yang‐Guang , Li Shun‐Li , Lan Ya‐Qian , Wang Xin‐Long , Shao Kui‐Zhan , Su Zhong‐Min , Wang En‐Bo 
Published: May 2011

AbstractH7{ [Na12(PO4)(H2O)12]@ [Mo6O12(OH)3(HPO4)3 (PO4)] 4(Zn6O2)}·38H2O is hydrothermally synthesized from an aqueous solution of H3PO3, Na2MoO4, and ZnCl2 (autoclave, pH 4—5, 170 °C, 5 d; 62% yield).
ChemInform Abstract: Synthesis and Characterization of the Dicopper(II)‐Containing 22‐Palladate(II) [Cu2IIPd22IIP12VO60(OH)8]20‐.
Authors: Kortz Ulrich , et al. et al. 
Published: May 2011

AbstractThe new double‐cuboid‐shaped compound Na20 [Cu2Pd22P12O60(OH)8] ·58H2O is synthesized by reaction of Pd3(OAc)6 and Cu(OAc)2 in a 0.5 M aq.