bluuebunny/crossref_metadata_2025_split huggingface dataset:
Linkage disequilibrium analysis of polymorphisms in the gene for myelin oligodendrocyte glycoprotein in Tourette's syndrome patients from a Chinese sample
Authors: Huang Yi , Li Tao , Wang Yun , Ansar Jawaid , Lanting Guo , Liu Xiehe , Zhao Jing Hua , Hu Xun , Sham Pak C. , Collier David 
Published: December 2003

AbstractGilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterised by multiple motor and phonic tics, which wax and wane. Recently, evidence has accumulated supporting the role of autoimmune mechanisms in the aetiology of GTS, suggesting that it is within the paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) spectrum of childhood neurobehavioural disorders. An immunopathogenic role of antibodies against myelin oligodendrocyte glycoprotein (MOG) has been suggested in this syndrome. In this study, we investigate the association of three microsatellite polymorphisms (MOGa, MOGb, MOGc) in the gene for MOG with GTS in 197 family trios collected from southwest China. Linkage disequilibrium between these three markers was observed with the strongest between MOGa and MOGc (D′ = 0.541, P = 0.000). We did not find overall significant evidence for distorted transmission of any of these three markers of MOG gene in GTS, although we observed a weak preferential transmission of the 148 bp allele of MOGc (χ2 = 4.000, P = 0.046) which did not survive correction for multiple testing. Our results suggest that there is no association between the MOG gene polymorphisms we tested and GTS. © 2003 Wiley‐Liss, Inc.
Ethnicity‐independent genetic basis of functional psychoses: A genotype‐to‐phenotype approach
Authors: Stassen H.H. , Bridler R. , Hell D. , Weisbrod M. , Scharfetter C. 
Published: December 2003

AbstractThe functional psychoses schizophrenia, schizoaffective disorder, and bipolar illness represent complex clinical syndromes that are characterized by phenotypic heterogeneity. Yet evidence from numerous studies suggests that (1) the prevalence of schizophrenia and bipolar illness is with 1% very similar across ethnicities, and (2) a strong genetic component is involved in the disorders' pathogenesis. Using data from different US‐American ethnicities (77 families with a total of 17 unaffected and 170 affected sib pairs; 276 marker loci), we searched for ethnicity‐independent oligogenic susceptibility loci for which the between‐sib genetic similarity in affected sib pairs deviated from the expected values. Specifically, we addressed the question of the extent to which genetic risk factors and their interactions constitute multigenic inheritance of functional psychoses across populations and might constitute universal targets for treatment. Our novel multivariate genotype‐to‐phenotype search strategy was based on a genetic similarity function that allowed us to quantify the inter‐individual genetic distances d(xi, xj) between the allelic genotype patterns xi, xjof any two subjects i, j with respect to n loci l1, l2, … ln. Thus, we were able to assess the between‐ethnicity, the within‐ethnicity, and the within‐family genetic similarities. The problem of ethnicity‐independent vulnerability was addressed by treating the Afro‐American families as “training” samples, while the non‐Afro‐American families served as independent “test” samples. We evaluated the between‐sib similarities, which were expected to deviate from “0.5” in affected sib pairs if the region of interest contained markers close to vulnerability genes. The reference value “0.5” was derived from the parent–offspring similarities that are always 0.5, irrespective of the affection status of parents and offspring. We found 12 vulnerability loci on chromosomes 1, 4, 5, 6, 13, 14, 18, and 20, that were reproducible across the two samples under comparison and therefore, likely to constitute an ethnicity‐independent, oligogenic vulnerability model of functional psychoses. The elevated vulnerability appeared to be unspecific and to act in such a way that exogenous factors become more likely to trigger the onset of psychiatric illnesses. © 2003 Wiley‐Liss, Inc.
Combined family trio and case‐control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa
Authors: Gabrovsek M. , Brecelj‐Anderluh M. , Bellodi L. , Cellini E. , Di Bella D. , Estivill X. , Fernandez‐Aranda F. , Freeman B. , Geller F. , Gratacos M. , Haigh R. , Hebebrand J. , Hinney A. , Holliday J. , Hu X. , Karwautz A. , Nacmias B. , Ribases M. , Remschmidt H. , Komel R. , Sorbi S. , Tomori M. , Treasure J. , Wagner G. , Zhao J. , Collier D.A. 
Published: December 2003

AbstractThe high activity Val158 (H) allele of the dopamine‐metabolizing enzyme catechol‐O‐methyltransferase (COMT) was associated with anorexia nervosa (AN) in a recent family trio‐based study of patients from Israel. In an attempt to replicate this finding, we performed a combined family trio and case‐control study in an European population from seven centers in six different countries (Austria, Germany, Great Britain, Italy [Milan], Italy [Florence], Slovenia, and Spain), together contributing a total of 372 family trios, 684 controls and 266 cases. TDT analyses of high (H) and low (L) alleles in family trios showed that H allele and L allele were each transmitted 101 times (χ2 = 0, ns). Allele‐wise case‐control analysis using separate samples simply combined from the centers was also not significant, with the frequencies of the H allele 50% in cases and same in controls. Stratified analysis of data from all centers gave an odds ratio of 0.98 (Cornfield 95% confidence limits 0.78–1.24). Analysis by genotype was likewise not significant (overall χ2 = 0.42). Because we were not able to support the primary hypothesis that Val158Met is a risk factor for AN, we did not perform secondary analysis of minimum body mass index (mBMI), age at onset or illness subtype (restricting or binge purging anorexia). Overall we found no support for the hypothesis that the Val158 allele of COMT gene is associated with AN in our combined European sample. © 2003 Wiley‐Liss, Inc.
Association between interleukin 1‐β promoter (−511) polymorphism and depressive symptoms in Alzheimer's disease
Authors: McCulley Michelle C. , Day Ian N.M. , Holmes Clive 
Published: December 2003

AbstractDepressive symptoms have been associated with raised interleukin 1‐β (IL‐1β) plasma levels. The presence of behavioral and psychological symptoms of dementia (BPSD) in Alzheimer's disease, including depressive symptoms, have been shown to be influenced by common genetic polymorphisms. A common polymorphism in the promoter region of IL‐1β has been linked to altered synthesis of IL‐1β. We hypothesize that this common genetic polymorphism is a risk factor for the appearance of depressive symptoms in AD. A total of 133 subjects, diagnosed as probable AD and 156 controls were genotyped for the −511 variant of IL‐1β. Neither genotype or allele frequencies differed between the AD and control group. However, an allelic association was found between the T variant and the symptoms of depression in AD subjects. Genotypic analysis showed that heterozygotes were three times more likely to develop depressive symptoms than CC homozygotes. © 2003 Wiley‐Liss, Inc.
The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans
Authors: Shi Jiajun , Zhang Sizhong , Tang Mouni , Liu Xiehe , Li Tao , Wang Yingcheng , Han Haiying , Guo Yangbo , Hao Yuantao , Zheng Keqin , Kong Xiangdong , Su Zhiguang , Tong Yu , Ma Cui 
Published: December 2003

AbstractBeta‐site amyloid‐precursor protein cleaving enzyme (BACE1) is a candidate risk factor for Alzheimer's disease (AD) because of involving in generating β‐amyloid peptide, which is thought to play a central role in the pathogenesis of the disease. A single nucleotide polymorphism 1239G/C in exon 5 of BACE1 gene and a weak association between this polymorphism and AD in Caucasian APOEε4 allele carriers has been reported. To examine possible association of the polymorphism with sporadic AD, two Chinese Han cohorts including 257 patients and 242 age‐matched controls in Guangzhou and 112 patients and 113 controls in Chengdu were genotyped using PCR‐RFLP techniques. The frequency of the C allele in controls of both cohorts was 0.65, which was higher than that in Caucasian populations [0.39 by Nowotny et al. 2001: Neuroport 12:1799–1802; 0.44 by Nicolaou et al. 2001: Neurogenetics 3:203–206]. There was a significant excess of C allele among the patients in both cohorts (Guangzhou, 0.71 vs. 0.65, χ2 = 5.20, P = 0.02; Chengdu, 0.74 vs. 0.65, χ2 = 4.36, P = 0.04). The CC genotype was found to be associated with AD (Guangzhou cohort, OR = 1.56, 95% CI = 1.09–2.23; Chengdu cohort, OR = 1.74, 95% CI = 1.03–2.95; combined sample: OR = 1.61, 95% CI = 1.20–2.17). The association remained in non‐APOE ε4 allele carriers when all subjects were divided on the basis of the APOEε4 status. Our findings suggest that the 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic AD in Chinese Hans. © 2003 Wiley‐Liss, Inc.
Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database
Authors: Karayiorgou Maria , Torrington Marie , Abecasis Gonçalo R. , Pretorius Herman , Robertson Brian , Kaliski Sean , Lay Stephen , Sobin Christina , Möller Natalie , Lundy S. Laura , Blundell Maude L. , Gogos Joseph A. , Roos J. Louw 
Published: December 2003

AbstractFounder populations hold tremendous promise for mapping genes for complex traits, as they offer less genetic and environmental heterogeneity and greater potential for genealogical research. Not all founder populations are equally valuable, however. The Afrikaner population meets several criteria that make it an ideal population for mapping complex traits, including founding by a small number of initial founders that likely allowed for a relatively restricted set of mutations and a large current population size that allows identification of a sufficient number of cases. Here, we examine the potential to conduct genealogical research in this population and present initial results indicating that accurate genealogical tracing for up to 17 generations is feasible. We also examine the clinical similarities of schizophrenia cases diagnosed in South Africa and those diagnosed in other, heterogeneous populations, specifically the US. We find that, with regard to basic sample descriptors and cardinal symptoms of disease, the two populations are equivalent. It is, therefore, likely that results from our genetic study of schizophrenia will be applicable to other populations. Based on the results presented here, the history and current size of the population, as well as our previous analysis addressing the extent of background linkage disequilibrium (LD) in the Afrikaners, we conclude that the Afrikaner population is likely an appropriate founder population to map genes for schizophrenia using both linkage and LD approaches. © 2003 Wiley‐Liss, Inc.
No association between allelic variants of HOXA1/HOXB1 and autism
Authors: Gallagher Louise , Hawi Ziarih , Kearney Geraldine , Fitzgerald Michael , Gill Michael 
Published: December 2003

AbstractTwo recent studies have reported conflicting findings of association of a variant in the HOXA1 gene and autism. To try to resolve the conflict in findings, we conducted an association study in 78 Irish families of the reported DNA variants. We did not find statistically significant association between the variants and autism. Similarly there was no evidence of preferential transmission of variants from parent of either sex to affected offspring. We also report negative findings for HOXB1 variants. We conclude that the HOXA1/B1 are unlikely to be the susceptibility genes for autism in our sample. © 2003 Wiley‐Liss, Inc.
Dinucleotide repeat polymorphism in interferon‐γ gene is not associated with sporadic Alzheimer's disease
Authors: Oda Masaya , Maruyama Hirofumi , Izumi Yuishin , Morino Hiroyuki , Torii Tsuyoshi , Nakamura Shigenobu , Kawakami Hideshi 
Published: December 2003

AbstractVarious factors have been suggested to participate in Alzheimer's disease (AD) pathology, and some inflammatory cytokines may play an important role in the development of AD. Interferon‐γ (IFNG), an important pro‐inflammatory cytokine, is encoded by a single gene mapped to chromosome 12, one of the candidate locus of AD. The first intron in the IFNG gene represents a CA repeat polymorphism that is possible to affect the IFNG secretion dose. We speculate that the polymorphism may have some roles on the inflammatory process and the pathologic change in AD, so we analyzed the IFNG gene polymorphism in 199 Japanese AD patients and 225 Japanese controls. There were no significant differences in allele frequency between the AD and control groups. We conclude that IFNG gene polymorphism is not associated with development of AD. © 2004 Wiley‐Liss, Inc.
Eine Strategie für die Diversitäts‐orientierte Synthese
Authors: Burke Martin D. , Schreiber Stuart L. 
Published: December 2003

AbstractAnders als die Target‐orientierte Synthese (TOS) und die medizinische oder kombinatorische Chemie, die den Zugang zu einem bestimmten, oft engen Bereich des chemischen Raums anstreben, füllt die Diversitäts‐orientierte Synthese (DOS) den chemischen Raum mit kleinen Molekülen unterschiedlichster Strukturen. Hauptziel von DOS ist es, einen effizienten, drei‐ bis fünfstufigen Zugang zu Kollektiven kleiner Moleküle mit hoher stereochemischer Diversität und Molekülgerüst‐Diversität zu schaffen, die definierte Koordinaten im chemischen Raum einnehmen. Idealerweise erhält man dabei Verbindungen, die nach dem Screening regio‐ und stereoselektiv funktionalisiert werden können. Stereochemische Diversität und Molekülgerüst‐Diversität stellen sicher, dass die Bausteine an der Moleküloberfläche in verschiedenen Ausrichtungen gebunden werden können. Die Retrosynthese war ein Fortschritt für TOS, für die medizinische und die kombinatorische Chemie. Obwohl die Ziele von DOS die Anwendung einer Retrosynthese nicht vorsehen, kann man eine komplementäre Vorgehensweise entwickeln: die vorwärtssynthetische Analyse (forward synthetic‐analysis). Dieses Konzept erleichtert die Entwicklung, die Beschreibung und das Unterrichten von DOS.
Solution‐ and Crystal‐Phase Covalent Modification of Lysozyme by a Purpose‐Designed Organoruthenium Complex. A MALDI‐TOF MS Study of its Metal Binding Sites
Authors: Salmain Michèle , Caro Bertrand , Le Guen‐Robin Françoise , Blais Jean‐Claude , Jaouen Gérard 
Published: December 2003

AbstractStudy of the reaction between the transition organometallic complex 4‐ruthenocenyl 2,6‐dimethylpyrylium tetrafluoroborate and the enzyme hen egg white lysozyme (HEWL) in solution and by diffusion in crystals was performed by use of a combination of spectroscopic and chromatographic methods. Conjugation involving the lysine residues of lysozyme appeared to occur readily, yielding very stable ruthenocenyl pyridinium adducts with average degrees of incorporation ranging from 0.2 to 1.8 metal complexes per protein molecule, depending on reaction conditions. Matrix‐assisted laser desorption ionization time‐of‐flight mass spectrometry (MALDI‐TOF MS) revealed that the protein conjugates were in fact mixtures of unmodified, mono‐, di‐ and sometimes tripyridinium adducts. In combination with reversed‐phased HPLC, we were able to show that six different monoruthenocenyl pyridinium adducts were formed in solution. This result was confirmed by trypsin digestion of a ruthenocenyl pyridinium conjugate and MALDI‐TOF MS analysis of the peptide mixture, which showed that lysines 1, 13, 33, 96, 97 and 116 were involved in the reaction with the pyrylium complex, lysines 13, 33 and 116 being the major binding sites. In the tetragonal crystal state, no binding of the ruthenium complex was shown to occur at lysine 116, owing to steric hindrance at this particular position.
Substituent‐Dependent Reactivity in the Photodimerization of N‐Substituted Dibenz[b,f]azepines
Authors: Querner Jens , Wolff Thomas , Görner Helmut 
Published: December 2003

AbstractThe photoprocesses of a series of N‐substituted dibenz[b,f]azepines (iminostilbenes) were studied by absorption and emission spectroscopy, by laser flash photolysis, and by preparative irradiation with NMR analysis. In solutions, 2π+2π photodimers of N‐cyano and N‐acyl dibenzazepines are formed via the triplet state upon acetone‐ or benzophenone‐sensitized energy transfer. T–T absorption spectra were measured and absorption coefficients were determined. The triplet energy transfer is equally efficient for N‐alkyl dibenzazepines, which do not dimerize. Excited states of nπ* character in the latter cases are discussed to rationalize the different reactivities. In spite of negligible intersystem crossing of 21 dibenzazepine derivatives, photodimers of N‐acyl and N‐cyano dibenzazepines are formed upon direct excitation in concentrated solutions (0.01–0.1 mol dm−3) as well as in the solid state. A selective anti‐configuration of the photodimers was found throughout.
Modular Solid‐Phase Synthetic Approach To Optimize Structural and Electronic Properties of Oligoboronic Acid Receptors and Sensors for the Aqueous Recognition of Oligosaccharides
Authors: Stones Duane , Manku Sukhdev , Lu Xiaosong , Hall Dennis G. 
Published: December 2003

AbstractThis article describes the design and optimization of the first entirely modular, parallel solid‐phase synthetic approach for the generation of well‐defined polyamine oligoboronic acid receptors and fluorescence sensors for complex oligosaccharides. The synthetic approach allows an effective building of the receptor polyamine backbone, followed by the controlled diversification of the amine benzylic side chains. This approach enabled the testing, in a modular fashion, of the effect of different arylboronic acid units substituted with unencumbering para electron‐withdrawing or electron‐donating groups. The feasibility of this approach toward automated synthesis was also investigated with the assembly of a sublibrary of receptors by means of the Irori MiniKan technology. Several sublibraries of anthracene‐capped sensors containing two or three arylboronic acids were synthesized, and their binding to a series of model disaccharides was examined in neutral aqueous media. The calculation of association constants by fluorescence titrations confirmed that subtle changes in the structures of the interamine spacers in the polyamine backbone can have a significant effect on the stability of the resulting complexes. Most importantly, this study led to the determination of the preferred electronic characteristics for the arylboronate units, and suggests that a new generation of receptors containing very electron‐poor arylboronic acids could lead to a significant improvement of binding affinities.
Subcellular distribution of spinophilin immunolabeling in primate prefrontal cortex: Localization to and within dendritic spines
Authors: Muly E. Chris , Smith Yoland , Allen Patrick , Greengard Paul 
Published: December 2003

AbstractSignal transduction in the nervous system depends on kinases and phosphatases, whose localization is regulated by a large group of scaffolding proteins. In particular, protein phosphatase‐1 mediates dopamine's actions on a variety of substrates, including glutamate receptors, and this, in turn, depends on the binding of protein phosphatase‐1 to its binding protein spinophilin. To better understand spinophilin's role in targeting protein phosphatase‐1 within neurons, we used a combination of preembedding immunoperoxidase and postembedding immunogold labeling and electron microscopy to determine the localization of this scaffolding protein in macaque prefrontal cortex. Consistent with previous reports, spinophilin was found predominantly in dendritic spines, but a significant number of labeled dendritic shafts and, less frequently, glia and preterminal axons were also identified. By using the postembedding immunogold method, we further examined the distribution of spinophilin within dendritic spines. Spinophilin immunoreactivity was present throughout the spine, but the density of label was heterogeneous and defined two domains. The highest density of label was associated with the postsynaptic density and the 100 nm immediately subjacent to it. The deeper region of the spine, further than 100 nm from the postsynaptic density, had a lower density of spinophilin label. The distribution of spinophilin reported in this study supports its role in modulating glutamatergic neurotransmission but also suggests the possibility that spinophilin may target protein phosphatase‐1 to other sites within the spine or to other neuronal or glial compartments. J. Comp. Neurol. 469:185–197, 2004. © 2003 Wiley‐Liss, Inc.
Efficacy in evidence‐based practice
Authors: Bower Peter 
Published: December 2003

AbstractEvidence‐based practice is concerned with ensuring that patients receive treatments of proven ‘efficacy,’ and this article considers the meaning of ‘efficacy’ in relation to psychological therapy. The concept of efficacy is compared with that of ‘effectiveness’ and the relationship between these terms and the study design concepts of internal and external validity is highlighted. The advantages and disadvantages of efficacy research in psychological therapies are considered, alternatives to efficacy research are discussed and the issues are considered using the practical example of the development of the evidence base for counselling services in primary care settings in the United Kingdom. Copyright © 2003 John Wiley & Sons, Ltd.
Compliance in small claims court: Exploring the factors associated with defendants' level of compliance with mediated and adjudicated outcomes
Authors: Long Jennie J. 
Published: December 2003

AbstractThis study explores how defendants in small claims cases, settled in either mediation or adjudication, react to case outcomes that require them to
make some form of payment to the opposing party. Of particular interest was the relationship between dispute resolution forum and the reasons given
for compliant behavior. Data were drawn from thirty‐nine structured interviews in small claims cases filed in a local justice court. In
mediated cases, defendants tended to comply with case outcomes from a sense of personal responsibility and obligation to fulfill a promise made to
complainants, while defendants in adjudicated cases reported that they complied with the judgment in their case because of their duty to obey the
law.
Syntheses, Crystal Structures and Optical Limiting Properties of Three Novel Organometallic Tungsten‐Copper‐Sulfur Clusters: [PPh4][(η5‐C5Me5)WS3(CuCN)2], [(η5‐C5Me5)WS3Cu2(PPh3)(μ‐CN)]2 and [PPh4][{(η5‐C5Me5)WS3Cu2(CN)(Py)}2(μ‐CN)]
Authors: Lang Jian‐Ping , Xu Qing‐Feng , Ji Wei , Elim Hendry Izaac , Tatsumi Kazuyuki 
Published: December 2003

AbstractReactions of [PPh4][(η5‐C5Me5)WS3] with two equivalents of CuCN in MeCN produced a novel trinuclear butterfly‐shaped cluster [PPh4][(η5‐C5Me5)WS3(CuCN)2] (1) in a 70% yield. Treatment of 1 with excess PPh3 or Py gave rise to two different hexanuclear clusters [(η5‐C5Me5)WS3Cu2(PPh3)(μ‐CN)]2 (2) and [PPh4][{(η5‐C5Me5)WS3Cu2(CN)(Py)}2(μ‐CN)] (3), respectively. Compounds 1−3 were fully characterized by spectroscopy and X‐ray crystallography. The structure of the cluster anion of 1 contains a butterfly‐like WS3Cu2 fragment in which each Cu atom is coordinated to one μ‐S atom, one μ3‐S atom, and one terminal CN group. The neutral compound 2 has a double butterfly‐shaped structure in which two WS3Cu2 fragments are interconnected by two Cu−μ‐CN−Cu bridges. The anion of 3 adopts another type of double butterfly‐shaped structure in which the two WS3Cu2 fragments are linked by a single Cu−μ‐CN−Cu bridge. Compared with C60 in terms of the optical limiting (OL) properties measured under identical conditions, 1 and 2 exhibit a relatively good OL performance, whereas the OL effect is not observed for 3. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2004)