bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dimerization of Np(V) and media effects in concentrated solutions
Authors: Gregoire-Kappenstein A. C. , Moisy Ph. , Cote Gerard , Blanc P. 
Published: December 2003

Abstract
Highly concentrated (up to 3.56mol L-1) binary solutions of NpO2NO3 were prepared to investigate the self-association of Np(V). By using visible/NIR absorption spectrophotometry and chemometric techniques, Np(V) was shown to be only monomeric below 0.2mol L-1, to exist under its monomeric and dimeric forms between 0.2 and 2mol L-1, to begin to form self-associates of higher degrees above 2mol L-1. In the range 0.2mol L-1 < C
Np(V)<2mol L-1, the neptunium distribution between the free NpO2
+ and dimeric (NpO2)2
2+ forms was determined by Raman spectroscopy. The simple solution concept was used to establish the activity function for the reaction of dimerization. Such a water activity function can be used to calculate the apparent dimer formation constant for any solution of known composition and water activity, provided that this solution is simple.
Speciation and mobility of uranium(VI) in humic-containing soils
Authors: Crançon Pierre , van der Lee J. 
Published: December 2003

AbstractUranium is known to easily form stable complexes with both organic and inorganic ligands in natural aquatic environments. The potential mobility of U(VI), and particularly the role of humic substances, has been investigated for a sandy podzol. Adsorption of U(VI) at equilibrium was experimentally investigated, comparatively for a pure quartz sand as well as a sandy podzolic soil from Landes Gascony, France, containing 0.6 wt. organic matter. Uranium is strongly retained by the bulk soil, mainly due to organic aggregates (<50μm) and organic coatings on quartz grains. A large fraction of U(VI) is found to be associated to humic colloids in soil, thus forming a potential mobile uranium phase. For the soil, the U(VI) adsorption isotherm is linear for relatively low U(VI) total aqueous concentration, ranging from 15 to 40000μg/L. This indicates that the functional groups of humic matter are far from saturated for aqueous concentrations close to U(VI) solubility in soil pore-water. The speciation of uranium in soil pore water and the interactions between U(VI) species and the reactive sites of the soil material were evaluated using the speciation code CHESS [1]. Comparison between the model and experimental results show that complexation of U(VI) by humic substances tends to immobilise uranium in soils with a pH below 5, when the reactive surface of quartz grains and aggregates are entirely coated by humic matter. In soil pore-water, the presence of mobile organic ligands competing with surface-bound organics for U(VI) complexation must be included in the speciation modelling. Without the mobile organic phase, the model overestimates the actual bound fraction, thus underestimating the actual amount of mobile U(VI).
Association between the TPH gene A218C polymorphism and suicidal behavior: A meta‐analysis
Authors: Bellivier Frank , Chaste Pauline , Malafosse Alain 
Published: December 2003

AbstractGenes encoding proteins involved in serotonergic metabolism are major candidates in association studies of suicidal behavior. The tryptophan hydroxylase (TPH) gene, which codes for the rate‐limiting enzyme of serotonin biosynthesis, is a major candidate gene and has been extensively studied in association studies of suicidal behavior, providing conflicting results. It is difficult to interpret these conflicting results due to lack of power, ethnic heterogeneity, and variations in the sampling strategies (in particular for controls) and in the polymorphism of the TPH gene studied. Meta‐analyses can improve the statistical power for the analysis of the effects of candidate vulnerability factors. The analysis of the sources of heterogeneity that contribute to these conflicting results is an important step in the interpretation of these conflicting association results and in the interpretation of the results of a meta‐analysis. We selected all of the published association studies between the TPH gene polymorphism and suicidal behavior. Nine association studies between the A218C TPH polymorphism and suicidal behavior fulfilled the inclusion criteria. A significant association was observed between the A218C polymorphism and suicidal behavior using the fixed effect method (odds ratio (OR) = 1.62; 95% confidence interval (CI) = [1.26; 2.07]) and the random effect method (OR = 1.61; 95% CI = [1.11; 2.35]). The analysis of the sources of heterogeneity showed that two studies (one positive and one negative) significantly deviated from the calculated global effect. The meta‐analysis performed after removing those two studies also revealed a significant association between the TPH A218C polymorphism and suicidal behavior. Both analyses suggested that the A allele has a dose‐dependent effect on the risk of suicidal behavior. © 2004 Wiley‐Liss, Inc.
Variation in the urokinase‐plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD
Authors: Myers Amanda J. , Marshall Helen , Holmans Peter , Compton Danielle , Crook Richard J.P. , Mander Adrian P. , Nowotny Petra , Smemo Scott , Dunstan Melanie , Jehu Luke , Wang Jen C. , Hamshere Marian , Morris John C. , Norton Joanne , Chakraventy Sumi , Tunstall Nigel , Lovestone Simon , Petersen Ronald , O'Donovan Michael , Jones Lesley , Williams Julie , Owen Michael J. , Hardy John , Goate Alison 
Published: December 2003

AbstractLinkage studies indicate that the same region of chromosome 10 contains a risk locus for late onset Alzheimer disease (LOAD) and a QTL for plasma Aβ42 levels suggesting that a single locus may influence risk for AD by elevating plasma Aβ42 [Ertekin‐Taner et al., 2000; Myers et al., 2000]. A strong positional and biological candidate is the urokinase‐plasminogen activator (PLAU) gene. Eight polymorphisms spanning the entire gene were examined using case control (CC) and family‐based association methods. No association was observed by any method making it unlikely that variation in PLAU explains our linkage data. © 2004 Wiley‐Liss, Inc.
Nature and nurture: Interaction and coaction
Authors: McClearn Gerald E. 
Published: December 2003

AbstractThe sophistry of the “Nature versus Nurture” formulation is becoming ever more apparent as a consequence of the rapid advances in understanding of the basic mechanisms of heredity and in the application of this knowledge to a wide spectrum of issues of human health and welfare. It is clear that a more accurate formulation would emphasize the interaction and coaction of genetic and environmental factors in their influence on complex phenotypes. Furthermore, the potential dependence of the influence of a particular gene on other genes in the system is increasingly realized. This paper documents these perspectives by examples of gene‐environment interaction and gene‐gene interaction both from animal model and from human research that reveal both the potential power and subtlety of these interactive effects. © 2004 Wiley‐Liss, Inc.
Role of dopamine D3 receptor (DRD3) and dopamine transporter (DAT) polymorphism in cognitive dysfunctions and therapeutic response to atypical antipsychotics in patients with schizophrenia
Authors: Szekeres György , Kéri Szabolcs , Juhász Anna , Rimanóczy Ágnes , Szendi István , Czimmer Csongor , Janka Zoltán 
Published: December 2003

AbstractMolecular components of the dopaminergic system may play an important role in the pathophysiology of schizophrenia. In this study, we investigated the relationship of the Ser9Gly (S/G) polymorphism of the dopamine D3 receptor (DRD3) and the variable number of tandem repeats (VNTR) polymorphism of the dopamine transporter (DAT) with therapeutic response to atypical antipsychotics (clozapine, olanzapine, quetiapine, risperidone) and cognitive functions. No associations were found between the DRD3 and DAT polymorphisms and schizophrenia. The S/S genotype and the S allele were more frequent in the non‐responder patients (n = 28) than in the group of responders (n = 47) (cut‐off: >20‐point improvement in Global Assessment of Functioning (GAF) scale). The patients with S/S genotype completed fewer categories and had more perseverative errors in the Wisconsin Card Sorting Test (WCST) compared with the S/G patients. The S/S and S/G patients did not differ in positive and negative symptoms, GAF scores, WCST failure to maintain set, and verbal learning. No differences in symptoms or WCST measures were observed in the patients with different DAT genotypes. These results suggest that the S/S genotype of the DRD3 is associated with worse therapeutic response and more severe executive dysfunctions in patients with schizophrenia. © 2003 Wiley‐Liss, Inc.
Personality traits in young female apolipoprotein E (apoE) ε4 and non‐ε4 carriers
Authors: Tsai Shih‐Jen , Yu Younger W.‐Y. , Hong Chen‐Jee 
Published: December 2003

AbstractApolipoprotein E (apoE) is the major brain apolipoprotein, and is related to the functional integrity of the central nervous system. It has been reported that the apoE genetic polymorphism is associated with several components of childhood and adolescent temperament. To study the effect of the presence of the apoE ε4 allele on adult personality factors, tridimensional personality questionnaire (TPQ) scores were compared for ε4 and non‐ε4 carriers in a sample population consisting of 135 young females. No significant differences were demonstrated comparing the scores for the two groups. Our findings suggest that the investigated apoE polymorphism does not play a major role in personality trait factors, as assessed by TPQ. © 2004 Wiley‐Liss, Inc.
Mutation screen of the glutamate decarboxylase‐67 gene and haplotype association to unipolar depression
Authors: Lappalainen Jaakko , Sanacora Gerard , Kranzler Henry R. , Malison Robert , Hibbard Ellen S. , Price Lawrence H. , Krystal John , Gelernter Joel 
Published: December 2003

AbstractAbnormally low concentrations of brain gamma‐aminobutyric acid (GABA) have been reported in unipolar depression. Almost all of the brain GABA is synthesized by glutamate decarboxylase (GAD) enzymes (GAD67 and GAD65). These enzymes, therefore, play a central role in brain GABA homeostasis. We screened all the 17 exons of the GAD67 gene for mutations using single strand conformation polymorphism (SSCP) or denaturing high pressure liquid chromatography (dHPLC) in a sample of 43 individuals diagnosed with major unipolar depression or other disorders with putative GABAergic dysfunction. We identified eight novel variants (five synonymous base substitutions, two insertion/deletions and one tandem repeat). Three relatively common (minor allele frequency >20%) single nucleotide polymorphisms (SNPs), located in the 5′ non‐coding region (exon 0), intron 8, and the 3′ non‐coding region (exon 16) of the gene, were genotyped in 103 European‐American (EA) subjects with depression and 125 EA psychiatrically screened controls. Linkage disequilibrium (LD) and haplotype frequencies were estimated using the 3LOCUS program. Significant LD was observed between the intron 8 SNP and the exon 16 SNP and between the exon 0 SNP and the exon 16 SNP. Three common GAD67 haplotypes were observed in this population, which accounted for >90% of the possible GAD67 three‐locus haplotypes. Comparison of SNP and haplotype frequencies between individuals with depression and controls revealed no differences. These results demonstrate a significant within‐gene LD for GAD67 in the EA population and begin to establish a haplotype map for this gene. Furthermore, these results suggest that common genetic variation within the GAD67 gene does not play a major role in the predisposition to unipolar depression. © 2003 Wiley‐Liss, Inc.
Re‐Screening serotonin receptors for genetic variants identifies population and molecular genetic complexity
Authors: Glatt Charles E. , Tampilic Maricel , Christie Carroll , DeYoung Joe , Freimer Nelson B. 
Published: December 2003

AbstractWe have re‐screened the genes for the 5‐HT1A, 5‐HT2A, 5‐HT2C, and 5‐HT7 serotonin receptors for genetic variants in a large African‐American and Caucasian‐American population sample. We have identified eight novel variants in these genes including four that are predicted to cause amino acid substitutions. These variants are additional candidates for association studies of behavioral disorders such as depression and schizophrenia as well as quantitative personality traits. We have also detected some, but not all, previously identified variants in these genes suggesting that many previously identified variants are unique to specific populations. The results of this study, and previous screens of serotonin receptors, demonstrate that the genes for serotonin receptors display marked population and molecular genetic complexity. These levels of complexity may have a substantial effect on genetic association studies of human behavioral variability related to these genes. We discuss the implications of these findings and propose methods to address complexity in genetic association studies. © 2003 Wiley‐Liss, Inc.
Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia
Authors: Tsutsumi T. , Holmes S.E. , McInnis M.G. , Sawa A. , Callahan C. , DePaulo J.R. , Ross C.A. , DeLisi L.E. , Margolis R.L. 
Published: December 2003

AbstractThe possible presence of anticipation in bipolar affective disorder and schizophrenia has led to the hypothesis that repeat expansion mutations could contribute to the genetic etiology of these diseases. Using the repeat expansion detection (RED) assay, we have systematically examined genomic DNA from 100 unrelated probands with schizophrenia and 68 unrelated probands with bipolar affective disorder for the presence of CAG/CTG repeat expansions. Our results show that 28% of the probands with schizophrenia and 30% of probands with bipolar disorder have a CAG/CTG repeat in the expanded range, but that each expansion could be explained by one of three nonpathogenic repeat expansions known to exist in the general population. We conclude that novel CAG/CTG repeat expansions are not a common genetic risk factor for bipolar disorder or schizophrenia.© 2003 Wiley‐Liss, Inc.
An indirect test of the new mutation hypothesis associating advanced paternal age with the etiology of schizophrenia
Authors: Pulver Ann E. , McGrath John A. , Liang Kung‐Yee , Lasseter Virginia K. , Nestadt Gerald , Wolyniec Paula S. 
Published: December 2003

AbstractTwo studies by Malaspina et al. [2001: Arch Gen Psychiatr 58:361–367]; [2002: Am J Med Genet 114:299–303] have put forward the hypothesis that advanced paternal age with concomitant mutations in the male germ line is associated with sporadic schizophrenia in offspring. The hypothesis was supported by an observation of a monotonic increase in the risk for schizophrenia with increased paternal age, and a second observation in a separate sample of greater paternal mean age at birth among cases of apparent sporadic schizophrenia. The present study did not test the association of the risk of schizophrenia with advanced paternal age, but repeated the test of paternal age at birth among sporadic versus familial schizophrenic probands. We also examined the risk of schizophrenia, psychosis, and broad psychosis among paternal 1st and 2nd degree relatives of schizophrenic probands as a function of paternal age at birth of the proband, reasoning that if probands born to older fathers are more likely to be sporadic cases, the risk of schizophrenia (or psychosis) should be lower on the paternal side of the family. Results indicate a lack of support for the previous finding that sporadic probands tend to have older fathers at birth than familial probands. Results also failed to support the related hypothesis that increased paternal age is associated with the lower risk of schizophrenia (or psychosis) in the relatives of schizophrenic probands. The failure to support the paternal age hypothesis may be a function of heterogeneous samples, but calls for further research in the context of family studies. © 2003 Wiley‐Liss, Inc.
Interleukin‐1β (IL‐1β) gene and increased risk for the depressive symptom‐dimension in schizophrenia spectrum disorders
Authors: Rosa Araceli , Peralta Victor , Papiol Sergi , Cuesta Manuel J. , Serrano Fermín , Martínez‐Larrea Alfredo , Fañanás Lourdes 
Published: December 2003

AbstractInterleukin‐1β (IL‐1β), as well as other cytokines, has been classically implicated in the pathophysiology of major psychiatric disorders such as schizophrenia and major depression, and recent studies have implicated the IL‐1β gene and schizophrenia. Nevertheless, new approaches to this complex phenotype are necessary to clarify the risk conferred by this gene, either to the disorder or to its clinical manifestations. The aim of the present study was to explore the effect of a genetic polymorphism of the promoter region of the IL‐1β gene, in schizophrenia defined with: (i) a categorical diagnosis and (ii) a multidimensional symptom approach. We studied 356 individuals from 89 nuclear families consisting of one affected individual and the unaffected father, mother, and sib, in a family‐based association study design. We find a trend for biased transmission of allele 2 from heterozygous parents to affected offspring, categorically defined (P = 0.07). This tendency was not observed in the healthy offspring. Using a multidimensional symptom approach to the diagnosis, the association was confirmed in psychotic patients showing the depressive symptom‐dimension (P = 0.02). © 2003 Wiley‐Liss, Inc.
No evidence of linkage or association between the norepinephrine transporter (NET) gene MnlI polymorphism and adult ADHD
Authors: De Luca Vincenzo , Muglia Pierandrea , Jain Umesh , Kennedy James L. 
Published: December 2003

AbstractAttention deficit hyperactivity disorder (ADHD) is a prevalent psychiatric condition in children and follow‐up studies have indicated that one to two thirds of patients continue to suffer from ADHD during late adolescence and adulthood. The mechanism of action of the new selective noradrenergic reuptake inhibitor, atomoxetine, efficacious in the treatment of ADHD symptoms, suggests that the norepinephrine transporter (NET) may be involved in ADHD. The aim of this study was to investigate for the presence of linkage disequilibrium between the MnlI RFLP in the NET gene and adult ADHD in a sample of nuclear families. The MnlI polymorphism was typed in 128 trios and analyzed using the transmission disequilibrium test (TDT). There was no preferential transmission of either allele (χ2 = 0.209, df = 1, P = 0.647). © 2003 Wiley‐Liss, Inc.
Co‐occurrence of ADHD and low IQ has genetic origins
Authors: Kuntsi J. , Eley T.C. , Taylor A. , Hughes C. , Asherson P. , Caspi A. , Moffitt T.E. 
Published: December 2003

AbstractPrevious studies show that the symptoms of attention deficit hyperactivity disorder (ADHD) and lower intelligence quotient (IQ) covary in children. We investigated the aetiology of this association in a large population‐based sample of 5‐year‐old twins. The twins were individually assessed on an IQ test, and data on ADHD symptoms were obtained from mother interviews and teacher ratings. Confirming previous studies, the phenotypic correlation between ADHD symptom scores and IQ was −0.3 and, in a categorical analysis, children with a Diagnostic and Statistical Manual of Mental Disorders (DSM‐IV) ADHD research diagnosis obtained IQ scores nine points lower, on average, than comparison children. We show here that the co‐occurrence of ADHD and lower IQ has genetic origins: 86% of the association between ADHD symptom scores and IQ, and 100% of the association between ADHD diagnosis and IQ, was accounted for by genetic influences that are shared by ADHD and IQ. Some candidate genes for ADHD could also contribute to variation in IQ or vice versa. © 2003 Wiley‐Liss, Inc.
Effects of dopamine receptor D4 variation on alcohol and tobacco use and on novelty seeking: Multivariate linkage and association analysis
Authors: Luciano Michelle , Zhu G. , Kirk K.M. , Whitfield J.B. , Butler R. , Heath A.C. , Madden P.A.F. , Martin N.G. 
Published: December 2003

AbstractThe dopamine D4 receptor gene contains a polymorphic sequence consisting of a variable number of 48‐base‐pair (bp) repeats, and there have been a number of reports that this polymorphism is associated with variation in novelty seeking or in substance abuse and addictive behaviors. In this study we have assessed the linkage and association of DRD4 genotype with novelty seeking, alcohol use, and smoking in a sample of 377 dizygotic twin pairs and 15 single twins recruited from the Australian Twin Registry (ATR). We found no evidence of linkage or association of the DRD4 locus with any of the phenotypes. We made use of repeated measures for some phenotypes to increase power by multivariate genetic analysis, but allelic effects were still non‐significant. Specifically, it has been suggested that the DRD4 7‐repeat allele is associated with increased novelty seeking in males but we found no evidence for this, despite considerable power to do so. We conclude that DRD4 variation does not have an effect on use of alcohol and the problems that arise from it, on smoking, or on novelty seeking behavior. © 2003 Wiley‐Liss, Inc.
Association between brain‐derived neurotrophic factor 196 G/A polymorphism and personality traits in healthy subjects
Authors: Itoh Kanako , Hashimoto Kenji , Kumakiri Chikara , Shimizu Eiji , Iyo Masaomi 
Published: December 2003

AbstractSeveral lines of evidence suggest that a certain type of personality or temperament is at risk for developing neuropsychiatric diseases, and that brain‐derived neurotrophic factor (BDNF) might be involved in pathophysiology of neuropsychiatric diseases such as mood disorders. Considering the role of BDNF and personality traits in the neuropsychiatric diseases, it is of interest to examine the association between BDNF gene polymorphism and personality test scores. In this study, we examined the association between 196 G/A the polymorphism in the coding region of the BDNF gene and personality traits scores (temperament and character inventory (TCI) and NEO personality inventory (NEO‐PI)) in Japanese healthy subjects. We found that female, but not male, subjects with BDNF genotype A/A have high scores in reward dependence on TCI and high scores in extraversion on NEO‐PI as compared with other genotypes (G/A or G/G), suggesting an association between reward dependence (or extraversion) personality traits and BDNF genotype in female subjects. Our findings suggest that BDNF 196 A/G polymorphism might be associated with personality traits in female, but not male, healthy subjects. © 2003 Wiley‐Liss, Inc.