bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association analysis of the PIP4K2A gene on chromosome 10p12 and schizophrenia in the Irish study of high density schizophrenia families (ISHDSF) and the Irish case–control study of schizophrenia (ICCSS)
Authors: Thiselton D.L. , Maher B.S. , Webb B.T. , Bigdeli T.B. , O'Neill F.A. , Walsh D. , Kendler K.S. , Riley B.P. 
Published: May 2009

AbstractMolecular studies support pharmacological evidence that phosphoinositide signaling is perturbed in schizophrenia and bipolar disorder. The phosphatidylinositol‐4‐phosphate‐5‐kinase type‐II alpha (PIP4K2A) gene is located on chromosome 10p12. This region has been implicated in both diseases by linkage, and PIP4K2A directly by association. Given linkage evidence in the Irish Study of High Density Schizophrenia Families (ISHDSF) to a region including 10p12, we performed an association study between genetic variants at PIP4K2A and disease. No association was detected through single‐marker or haplotype analysis of the whole sample. However, stratification into families positive and negative for the ISHDSF schizophrenia high‐risk haplotype (HRH) in the DTNBP1 gene and re‐analysis for linkage showed reduced amplitude of the 10p12 linkage peak in the DTNBP1 HRH positive families. Association analysis of the stratified sample showed a trend toward association of PIP4K2A SNPs rs1417374 and rs1409395 with schizophrenia in the DTNBP1 HRH positive families. Despite this apparent paradox, our data may therefore suggest involvement of PIP4K2A in schizophrenia in those families for whom genetic variation in DTNBP1 appears also to be a risk factor. This trend appears to arise from under‐transmission of common alleles to female cases. Follow‐up association analysis in a large Irish schizophrenia case–control sample (ICCSS) showed significant association with disease of a haplotype comprising these same SNPs rs1417374–rs1409395, again more so in affected females, and in cases with negative family history of the disease. This study supports a minor role for PIP4K2A in schizophrenia etiology in the Irish population. © 2009 Wiley‐Liss, Inc.
No evidence of an association between two genes, EDN1 and ACE, and childhood‐onset mood disorders
Authors: Dempster Emma L. , Kiss Eniko , Kapornai Krisztina , Daróczi Gabriella , Mayer Laszlo , Baji Ildiko , Tamas Zsuzsanna , Gadoros Julia , Kennedy James L. , Vetró Agnes , Kovacs Maria , Barr Cathy L. ,   The International Consortium for Childhood‐Onset Mood Disorders
Published: May 2009

AbstractRecent evidence supports a pathological link between heart disease and depressive symptoms, suggesting that depression is both etiologic and prognostic to heart disease. Thus, biological molecules which are at the interface between heart and mind are plausible candidate genes for depressive disorders. To investigate this line of enquiry we have investigated two genes, Endothelin 1 (EDN1) and Angiotensin‐converting enzyme (ACE) in a family‐based sample with childhood‐onset mood disorders (COMDs). EDN1 is highly expressed in endothelium where it acts as a potent vasoconstrictor, and is also expressed in the brain where it exhibits neurotransmitter characteristics. ACE acts as a potent vasopressor, and interacts with the hypothalamic–pituitary–adrenocortical (HPA) system, which is often dysregulated in mood disorders. Furthermore, ACE has recently been found to be associated with major depression. Polymorphisms were selected to best capture the genetic variation at the two loci, and to replicate previous associations. The markers were genotyped across EDN1 and ACE in a sample comprised of 382 Hungarian nuclear families ascertained through affected probands diagnosed with a mood disorders before the age of 15. We found no evidence of association between either of these genes and COMD. Consequently, we were unable to support our hypothesis that these two genes, which are involved in both vascular and brain functions are contributing to the susceptibility to mood disorders of children/adolescents. © 2009 Wiley‐Liss, Inc.
Novel extreme homozygote haplotypes at the human caveolin 1 gene upstream purine complex in sporadic Alzheimer's disease
Authors: Zarif Yeganeh M. , Mirabzadeh A. , Khorram Khorshid H.R. , Kamali K. , Heshmati Y. , Gozalpour E. , Veissy K. , Olad Nabi M. , Najmabadi H. , Ohadi M. 
Published: May 2009

AbstractAberrant expression of the caveolin‐1 (CAV1) gene is associated with Alzheimer's disease (AD) brain. We have recently reported a polymorphic purine stretch located at between 1.8 and 1.5 kb flanking the CAV1 gene, whose alleles and genotypes are associated with late‐onset AD. Extra‐short homozygote haplotypes were observed that were present only in the AD cases. Following an independent case/control study, we report alleles at the other extreme of the allele range, haplotypes of which were observed to be homozygous across the region in the AD cases. We propose that there is a window for the length of motifs and haplotypes in the controls. Homozygosity for shorter and longer motifs and haplotypes was linked with AD in our study. Our findings elucidate novel predisposing haplotypes at the CAV1 gene purine complex, and confirm the role of this region in the etiopathophysiology of late‐onset AD. © 2009 Wiley‐Liss, Inc.
Differential diagnosis of mastoid hypocellularity in human skeletal remains
Authors: Flohr Stefan , Kierdorf Uwe , Schultz Michael 
Published: May 2009

AbstractMastoid hypocellularity is frequently used as an indicator of chronic otits media in paleopathological investigations. The condition can be caused by a poor development of air cells during infancy and early childhood (primary hypocellularity) or by obliteration of air cells with bone during later life (secondary hypocellularity). We performed a macroscopic, radiographic, and microscopic study of pneumatization patterns in 151 mastoid processes of individuals from an early‐medieval cemetery in Germany, with emphasis on the architecture of the nonpneumatized portion of hypocellular mastoid processes. Two types of primary mastoid hypocellularity were distinguished. The first was characterized by a poorly defined boundary between the pneumatized portion and the nonpneumatized portion and a trabecular thickening in the spongy bone of the latter. The second showed a well‐defined boundary between the pneumatized portion and the nonpneumatized portion and normal spongy bone architecture in the latter. The key feature for the diagnosis of secondary hypocellularity was the recognition of the walls of former air cells. Our observations closely match the histopathological findings by Wittmaack (Wittmaack: Über die normale und die pathologische Pneumatisation des Schläfenbeins. Jena: Gustav Fischer [1918]), who developed a concept of the normal pneumatization process of the temporal bone and the pathogenesis of aberrant pneumatization. We agree with Wittmaack's view that two types of primary mastoid hypocellularity can be distinguished morphologically. Regarding the pathogenesis of these types, we, however, conclude that Wittmaack's concept needs to be revised and updated. Further studies are required to establish the relationship between morphological findings in cases of mastoid hypocellularity and the health status of individuals. Am J Phys Anthropol, 2009. © 2009 Wiley‐Liss, Inc.
Tetrahydrobiopterin in the prevention of hypertonia in hypoxic fetal brain
Authors: Vásquez‐Vivar Jeannette , Whitsett Jennifer , Derrick Matthew , Ji Xinhai , Yu Lei , Tan Sidhartha 
Published: May 2009

AbstractObjectiveTetrahydrobiopterin (BH4) deficiency is a cause of dystonia at birth. We hypothesized that BH4is a developmental factor determining vulnerability of the immature fetal brain to hypoxic‐ischemic injury and subsequent motor deficits in newborns.MethodsPregnant rabbits were subjected to 40‐minute uterine ischemia, and fetal brains were investigated for global and focal changes in BH4. Newborn kits were assessed by neurobehavioral tests following vehicle and sepiapterin (BH4analog) treatment of dams.ResultsNaive fetal brains at 70% gestation (E22) were severely deficient for BH4compared with maternal and other fetal tissues. BH4concentration rapidly increased normally in the perinatal period, with the highest concentrations found in the thalamus compared with basal ganglia, frontal, occipital, hippocampus, and parietal cortex. Global sustained 40‐minute hypoxia‐ischemia depleted BH4in E22 thalamus and to a lesser extent in basal ganglia, but not in the frontal, occipital, and parietal regions. Maternal supplementation prior to hypoxia‐ischemia with sepiapterin increased BH4in all brain regions and especially in the thalamus, but did not increase the intermediary metabolite, 7,8‐BH2. Sepiapterin treatment also reduced incidence of severe motor deficits and perinatal death following E22 hypoxia‐ischemia.InterpretationWe conclude that early developmental BH4deficiency plays a critical role in hypoxic‐ischemic brain injury. Increasing brain BH4via maternal supplementation may be an effective strategy in preventing motor deficits from antenatal hypoxia‐ischemia. Ann Neurol 2009;66:323–331
Periodontitis and incidence of cerebrovascular disease in men
Authors: Jimenez Monik , Krall Elizabeth A. , Garcia Raul I. , Vokonas Pantel S. , Dietrich Thomas 
Published: May 2009

AbstractObjectiveTo identify associations between periodontitis and incidence of cerebrovascular disease.MethodsWe analyzed data of 1,137 dentate men in the Veterans Affairs Normative Aging and Dental Longitudinal Study who were followed with triennial medical/dental exams for up to 34 years (mean, 24 years). We evaluated incidence of cerebrovascular events consistent with stroke or transient ischemic attack in relation to mean radiographic alveolar bone loss (a measure of periodontitis history) and cumulative periodontal probing depth (a measure of current periodontal inflammation). Cox proportional hazards models were fit controlling for age, baseline socioeconomic status, and time‐varying effects of established cardiovascular risk factors.ResultsEighty incident cases of cerebrovascular disease occurred from 27,506 person‐years. Periodontal bone loss was significantly associated with an increased hazard rate (HR) of cerebrovascular disease (HR, 3.52; 95% confidence interval [CI], 1.59–7.81 comparing highest to lowest bone loss category; p for trend, <0.001). There was a stronger effect among men aged <65 years (HR, 5.81; 95% CI, 1.63–20.7) as compared with men aged ≥65 years (HR, 2.39; 95% CI, 0.91–6.25). Periodontal probing depth was not associated with a significantly increased rate of cerebrovascular disease in the combined or age‐stratified analyses.InterpretationThese results support an association between history of periodontitis—but not current periodontal inflammation—and incidence of cerebrovascular disease in men, independent of established cardiovascular risk factors, particularly among men aged <65 years. Ann Neurol 2009;66:505–512
Anti–N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis in children and adolescents
Authors: Florance Nicole R. , Davis Rebecca L. , Lam Christopher , Szperka Christina , Zhou Lei , Ahmad Saba , Campen Cynthia J. , Moss Heather , Peter Nadja , Gleichman Amy J. , Glaser Carol A. , Lynch David R. , Rosenfeld Myrna R. , Dalmau Josep 
Published: May 2009

AbstractObjectiveTo report the clinical features of anti–N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis in patients ≤ 18 years old.MethodsInformation was obtained by the authors or referring physicians. Antibodies were determined by immunocytochemistry and enzyme‐linked immunosorbent assay (ELISA) using HEK293 cells ectopically expressing NR1.ResultsOver an 8‐month period, 81 patients (12 male) with anti‐NMDAR encephalitis were identified. Thirty‐two (40%) were ≤18 years old (youngest 23 months, median 14 years); 6 were male. The frequency of ovarian teratomas was 56% in women >18 years old, 31% in girls ≤18 years old (p = 0.05), and 9% in girls ≤14 years old (p = 0.008). None of the male patients had tumors. Of 32 patients ≤18 years old, 87.5% presented with behavioral or personality change, sometimes associated with seizures and frequent sleep dysfunction; 9.5% with dyskinesias or dystonia; and 3% with speech reduction. On admission, 53% had severe speech deficits. Eventually, 77% developed seizures, 84% stereotyped movements, 86% autonomic instability, and 23% hypoventilation. Responses to immunotherapy were slow and variable. Overall, 74% had full or substantial recovery after immunotherapy or tumor removal. Neurological relapses occurred in 25%. At the last follow‐up, full recovery occurred more frequently in patients who had a teratoma that was removed (5/8) than in those without a teratoma (4/23; p = 0.03).InterpretationAnti‐NMDAR encephalitis is increasingly recognized in children, comprising 40% of all cases. Younger patients are less likely to have tumors. Behavioral and speech problems, seizures, and abnormal movements are common early symptoms. The phenotype resembles that of the adults, although dysautonomia and hypoventilation are less frequent or severe in children. Ann Neurol 2009;66:11–18
Real‐life impact of early interferonβ therapy in relapsing multiple sclerosis
Authors: Trojano M. , Pellegrini F. , Paolicelli D. , Fuiani A. , Zimatore G.B. , Tortorella C. , Simone I.L. , Patti F. , Ghezzi A. , Zipoli V. , Rossi P. , Pozzilli C. , Salemi G. , Lugaresi A. , Bergamaschi R. , Millefiorini E. , Clerico M. , Lus G. , Vianello M. , Avolio C. , Cavalla P. , Lepore V. , Livrea P. , Comi G. , Amato M.P. ,   Italian Multiple Sclerosis Database Network (MSDN) Group
Published: May 2009

AbstractObjectiveRecent findings support greater efficacy of early vs. delayed interferon beta (IFNβ) treatment in patients with a first clinical event suggestive of multiple sclerosis (MS). We aimed to evaluate the effectiveness of early IFNβ treatment in definite relapsing‐remitting MS (RRMS) and to assess the optimal time to initiate IFNβ treatment with regard to the greatest benefits on disability progression.MethodsA cohort of 2,570 IFNβ‐treated RRMS patients was prospectively followed for up to 7 years in 15 Italian MS Centers. A Cox proportional hazards regression model adjusted for propensity score (PS) quintiles was used to assess differences between groups of patients with early vs. delayed IFNβ treatment on risk of reaching a 1‐point progression in the Expanded Disability Status Scale (EDSS) score, and the EDSS 4.0 and 6.0 milestones. A set of PS‐adjusted Cox hazards regression models were calculated according to different times of treatment initiation (within 1 year up to within 5 years from disease onset). A sensitivity analysis was performed to assess the robustness of findings.ResultsThe lowest hazard ratios (HRs) for the three PS quintiles–adjusted models were obtained by a cutoff of treatment initiation within 1 year from disease onset. Early treatment significantly reduced the risk of reaching a 1‐point progression in EDSS score (HR = 0.63; 95% CI = 0.48–0.85; p < 0.002), and the EDSS 4.0 milestone (HR = 0.56; 95% CI = 0.36–0.90; p = 0.015). Sensitivity analysis showed the bound of significance for unmeasured confounders.InterpretationGreater benefits on disability progression may be obtained by an early IFNβ treatment in RRMS. Ann Neurol 2009;66:513–520
Brainstem 1H nuclear magnetic resonance (NMR) spectroscopy: Marker of demyelination and repair in spinal cord
Authors: Denic Aleksandar , Bieber Allan , Warrington Arthur , Mishra Prasanna K. , Macura Slobodan , Rodriguez Moses 
Published: May 2009

AbstractMeasuring in vivo spinal cord injury and repair remains elusive. Using magnetic resonance spectroscopy (MRS) we examined brainstem N‐acetyl‐aspartate (NAA) as a surrogate for spinal cord injury in two mouse strains with different reparative phenotypes following virus‐induced demyelination. Swiss Jim Lambert (SJL) and Friend Virus B (FVB) mice progressively demyelinate with axonal loss. FVB mice demyelinate similarly but eventually remyelinate coincident with functional recovery. Brainstem NAA levels drop in both but recover in FVB mice. Chronically infected SJL mice lost 30.5% of spinal cord axons compared to FVB mice (7.3%). In remyelination‐enhancing or axon‐preserving clinical trials, brainstem MRS may be a viable endpoint to represent overall spinal cord dysfunction. Ann Neurol 2009;66:559–564
Synthesis and Microcontact Printing of Dual End‐Functionalized Mucin‐like Glycopolymers for Microarray Applications
Authors: Godula Kamil , Rabuka David , Nam Ki Tae , Bertozzi Carolyn R. 
Published: May 2009

AbstractKlick‐Verschluss: Glycopolymere können verwendet werden, um Glycane auf Mikroarrays in nativ‐ähnlichen Architekturen zu präsentieren. Mucin‐mimetische Glycopolymere (siehe Bild; TR=Fluorophor) mit einheitlicher Struktur wurden beim Mikrokontakt‐Stempeln in Gegenwart eines Kupferkatalysators über ihre Alkin‐Endgruppen auf Azid‐funktionalisierten Chips verankert. Die befestigten Glycopolymere waren in der Lage, Lectine ligandenspezifisch zu binden.magnified image
Crystalline Amyloid Structures at Interfaces
Authors: Lepère Mathilde , Chevallard Corinne , Brezesinski Gerald , Goldmann Michel , Guenoun Patrick 
Published: May 2009

AbstractDie Grundlagen geschaffen: Die Fähigkeit eines Amyloidpeptids zur Selbstorganisation an Grenzflächen wurde für den Aufbau kristalliner Nanostrukturen an Luft‐Wasser‐Grenzflächen genutzt, die AFM‐mikroskopisch und röntgenographisch (siehe Bild) untersucht wurden. Diese Strukturen führen zu regulär angeordneten funktionellen Gruppen und bereiten den Weg für ein gesteuertes Abscheiden anorganischer Materialien, wie man es bei der Biomineralisation findet.magnified image
Cationic Crown Ether Complexes of Germanium(II)
Authors: Rupar Paul A. , Bandyopadhyay Rajoshree , Cooper Benjamin F. T. , Stinchcombe Michael R. , Ragogna Paul J. , Macdonald Charles L. B. , Baines Kim M. 
Published: May 2009

AbstractDie Krone muss passen: Kationische GeII‐Komplexe lassen sich mit Kronenethern zum Stabilisieren und Schützen des Germaniumzentrums herstellen. Drei verschiedene Kronenether wurden eingesetzt: [12]Krone‐4 (siehe Struktur, Ge türkis, O rot, C grau), [15]Krone‐5 und [18]Krone‐6. Die Strukturen der kationischen Komplexe hängen von der Größe des Kronenetherhohlraums und dem Germaniumsubstituenten ab.magnified image
A Graphene Platform for Sensing Biomolecules
Authors: Lu Chun‐Hua , Yang Huang‐Hao , Zhu Chun‐Ling , Chen Xi , Chen Guo‐Nan 
Published: May 2009

AbstractAuf Graphenoxid (GO) beruht ein empfindliches und selektives Verfahren zum DNA‐ und Proteinnachweis. Durch die Wechselwirkung von GO mit einer farbstoffmarkierten Einzelstrang‐DNA wird die Fluoreszenz des Farbstoffs gelöscht. Sind Ziel‐DNAs oder Zielproteine vorhanden, binden sie an die farbstoffmarkierte DNA und spalten sie von GO ab, sodass sie erneut fluoresziert (siehe Bild).magnified image
Aktivierung der C‐H‐Bindung von Methan bei Raumtemperatur durch nacktes [P4O10].+
Authors: Dietl Nicolas , Engeser Marianne , Schwarz Helmut 
Published: May 2009

AbstractEs braucht nicht immer ein Metall: Massenspektrometrie und quantenchemische Rechnungen liefern für [P4O10].+ – als erstes nichtmetallisches Oxidkation – Belege, dass es in der Lage ist, die C‐H‐Bindung in Methan bei Raumtemperatur zu aktivieren (siehe Bild). Damit wird das Konzept der sauerstoffzentrierten Radikale um ein weiteres Beispiel erweitert.magnified image
Ketone Hydrosilylation with Sugar Silanes Followed by Intramolecular Aglycone Delivery: An Orthogonal Glycosylation Strategy
Authors: Buchan Zachary A. , Bader Scott J. , Montgomery John 
Published: May 2009

AbstractSüßer Anhang nach Wunsch: Ein Verfahren zur direkten Glycosylierung von Ketonen ohne Hydroxyintermediate ermöglicht die ortsselektive Glycosylierung von Hydroxyketonen an der Keton‐ oder der Alkoholeinheit, ohne dass Schutzgruppen am Aglycon notwendig sind (siehe Schema). Die Ortsselektivität wird in den Hydrosilylierungen und dehydrierenden Silylierungen mit Zuckersilanen durch die Katalysatorstruktur bestimmt. Bn=Benzyl.magnified image
2,7‐Di‐tert‐butylnaphtho[1,8‐cd][1,2]dithiole 1,2‐dioxides: Thermally Stable, Photochemically Active vic‐Disulfoxides
Authors: Grainger Richard S. , Patel Bhaven , Kariuki Benson M. 
Published: May 2009

AbstractTemperaturstabil dank tert‐Butyl: Die thermische Barriere für die Umlagerung eines vic‐Disulfoxids wird durch die Gegenwart sperriger tert‐Butylgruppen in ortho‐Stellung zu den S‐Atomen deutlich erhöht. Dies macht die Titelverbindungen zu den bisher thermisch stabilsten vic‐Disulfoxiden, allerdings gehen sie bei Raumtemperatur eine neuartige Photoepimerisierung ein (siehe Schema).magnified image
Click Chemistry beyond Metal‐Catalyzed Cycloaddition
Authors: Becer C. Remzi , Hoogenboom Richard , Schubert Ulrich S. 
Published: May 2009

AbstractNo copper needed: In recent years, a large number of metal‐free click reactions have been reported based on thiol‐ene radical additions, Diels–Alder reactions, and Michael additions. In this Minireview, special attention is given to the advantages and limitations of the different methods to evaluate whether they have the potential to surpass the overwhelming success of the copper(I)‐catalyzed azide‐alkyne cycloaddition.magnified imageThe overwhelming success of click chemistry encouraged researchers to develop alternative “spring‐loaded” chemical reactions for use in different fields of chemistry. Initially, the copper(I)‐catalyzed azide‐alkyne cycloaddition was the only click reaction. In recent years, metal‐free [3+2] cycloaddition reactions, Diels–Alder reactions, and thiol‐alkene radical addition reactions have come to the fore as click reactions because of their simple synthetic procedures and high yields. Furthermore, these metal‐free reactions have wide applicability and are physiologically compatible. These and other alternative click reactions expand the opportunities for synthesizing small organic compounds as well as tailor‐made macromolecules and bioconjugates. This Minireview discusses the success and applicability of new, in particular metal‐free, click reactions.
Selective Production of Reactive and Nonreactive Oxygen Atoms on Pd(001) by Rotationally Aligned Oxygen Molecules
Authors: Vattuone Luca , Gerbi Andrea , Cappelletti David , Pirani Fernando , Gunnella Roberto , Savio Letizia , Rocca Mario 
Published: May 2009

AbstractSticking together: The occupation of different sites by oxygen atoms that are produced by the dissociation of O2 on Pd(100) is determined by the initial rotational alignment of the parent molecules. The atom locations are characterized by different chemical reactivities in the reaction with CO to form CO2 (see picture), which are followed by synchrotron radiation (SR) experiments with a supersonic molecular beam (SMB).magnified image
Cationic Crown Ether Complexes of Germanium(II)
Authors: Rupar Paul A. , Bandyopadhyay Rajoshree , Cooper Benjamin F. T. , Stinchcombe Michael R. , Ragogna Paul J. , Macdonald Charles L. B. , Baines Kim M. 
Published: May 2009

AbstractFit for a king: Cationic complexes of GeII can be prepared by using crown ethers to stabilize and protect the germanium center. Three different crown ethers were employed: [12]crown‐4 (see structure, Ge teal, O red, C gray), [15]crown‐5, and [18]crown‐6. The structures of the cationic complexes depend on the cavity size of the crown ether and on the substituent on germanium.magnified image
Etching and Growth: An Intertwined Pathway to Silver Nanocrystals with Exotic Shapes
Authors: Cobley Claire M. , Rycenga Matthew , Zhou Fei , Li Zhi‐Yuan , Xia Younan 
Published: May 2009

AbstractTwo‐faced nanocrystals: Rapid addition of a second aliquot of silver nitrate during a polyol synthesis led to the formation of anisotropically truncated octahedrons as a result of oxidative etching and overgrowth of silver nanocubes. Three adjacent faces of the nanocube grew more rapidly than the three other faces, generating a non‐centrosymmetric structure (see picture).magnified image