bluuebunny/crossref_metadata_2025_split huggingface dataset:
Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases
Authors: Feng Jinong , Chen Jiesheng , Yan Jin , Jones Ian R. , Craddock Nick , Cook Edwin H. , Goldman David , Heston Leonard L. , Sommer Steve S. 
Published: January 2005

AbstractRetinoid receptors (RARs and RXRs) regulate brain morphogenesis and function. Defects in these receptors may contribute to schizophrenia or other psychiatric diseases. To test the hypothesis that genetic variants of the retinoid receptor genes may predispose to schizophrenia and other psychiatric diseases, the six RAR and RXR genes and a heterodimer partner, the NURR1 gene, were scanned in 100 schizophrenia patients, along with pilot studies in 20–24 patients with bipolar disorder (BPD), attention‐deficit hyperactivity disorder (ADHD), autism, or alcoholism. A total of 5.4 megabases of genomic sequence was scanned. No variants affecting protein structure or expression (VAPSEs) were found in four of the genes. One uncommon missense variant was found in each of the RARβ, RARγ, and RXRγ genes. We conclude that structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia. © 2004 Wiley‐Liss, Inc.
Clozapine‐induced weight gain associated with the 5HT2C receptor −759C/T polymorphism
Authors: Miller Del D. , Ellingrod Vicki L. , Holman Timothy L. , Buckley Peter F. , Arndt Stephan 
Published: January 2005

AbstractWeight gain has been documented as a significant adverse effect associated with many of the atypical antipsychotic medications. Several recent reports have linked a −759C/T polymorphism of the 5HT2C receptor gene and obesity as well as chlorpromazine, risperidone, and clozapine induced to weight gain. This aim was to determine the association between changes in body mass index (BMI) during clozapine treatment and the −759C/T polymorphism of the 5HT2C receptor gene. This study included 41 patients with treatment‐refractory schizophrenia (DSM‐IV) who were followed prospectively during treatment with clozapine. Weight and height measurements were obtained prior to starting clozapine and after 6‐months of treatment. Genomic DNA was isolated from a whole blood sample and analyzed for the −759C/T polymorphism of the 5HT2C receptor gene. A χ2 analysis comparing whether or not the subjects carried a −759T allele in subjects grouped as having an increase of more or less than 7% of their baseline BMI during treatment with clozapine found that the presence of the −759T allele was significantly higher in subjects with less than or equal to a 7% increase in baseline BMI compared to those with a greater than 7% increase in BMI. A multiple linear regression analysis showed that both baseline BMI and the presence or absence of the −759T allele had significant effects on 6‐month BMI. The T allele may have a protective function in preventing significant weight gain from clozapine. Subjects without the −759T variant allele were at a greater risk for weight gain from clozapine over 6‐months compared to those with the −759T allele. © 2004 Wiley‐Liss, Inc.
Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease
Authors: Clarimon Jordi , Johnson Janel , Dogu Okan , Horta Wagner , Khan Naheed , Lees Andrew J. , Hardy John , Singleton Andrew 
Published: January 2005

AbstractAutosomal recessive juvenile parkinsonism (AR‐JP, PARK2) is characterized by an early onset parkinsonism, often presenting with dystonia as an early feature. Mutations in Parkin are a relatively common cause of AR‐JP and are estimated to be present in ∼30% of familial young onset Parkinson disease (PD) [Abbas et al. (1999); Hum Mol Genet 8:567–574]. These mutations include exon rearrangements (deletions and duplications), point mutations, and small deletions. Similar genomic mutations have been described in unrelated patients, thereby indicating independent mutational events or ancient founder effects. We have identified homozygous deletion mutations of exon 4 in Parkin in two unrelated families, one from Brazil and the other from Turkey [Dogu et al. (2004); Mov Dis 9:812–816; Khan et al., Mov Dis, in press]. We have performed molecular analysis of the deletion breakpoints and this data indicates these mutations originated independently. We present here data demonstrating that the mutation responsible for disease in the Brazilian kindred consists of two separate deletions (1,069 and 1,750 bp) surrounding and including exon 4. The deletion removing parkin exon 4 identified in the Turkish family extended 156,203 bp. In addition to demonstrating that disease in these families is not caused by a single founder mutation, these data show that there is no common fragile site between these mutational events. © 2004 Wiley‐Liss, Inc.
Linkage disequilibrium analysis in the LOC93081‐KDELC1‐BIVM region on 13q in bipolar disorder
Authors: Ferraren Dilberto O. , Liu Chunyu , Badner Judith A. , Corona Winston , Rezvani Azadeh , Monje Virginia D. , Gershon Elliot S. , Bonner Tom I. , Detera‐Wadleigh Sevilla D. 
Published: January 2005

AbstractGenome‐wide scans in bipolar disorder and a meta analysis on published data have provided evidence for linkage to chromosome 13q, although the reported peaks from various studies have not converged in a narrow region. Recently, single nucleotide polymorphisms (SNPs) at the G72/G30 locus have been shown to be associated with bipolar disorder suggesting its potential role in increasing disease risk. The proposed linkage region on 13q extends over a wide span, and could provide a clue to the existence of other susceptibility variants. In the present study, SNPs in the LOC93081‐KDELC1‐BIVM, a region proximal to G72, were interrogated in two bipolar family series. KDELC1 has a predicted filamin domain and BIVM contains an immunoglobulin‐like motif. The small pedigree series yielded a nominally significant global P‐value due to under‐transmission of a rare haplotype but this finding was not supported by results from the larger series and in the case‐control study that compared 278 cases and 277 controls. © 2004 Wiley‐Liss, Inc.
Interaction of polymorphisms in the genes encoding interleukin‐6 and estrogen receptor beta on the susceptibility to Parkinson's disease
Authors: Håkansson Anna , Westberg Lars , Nilsson Staffan , Buervenich Silvia , Carmine Andrea , Holmberg Björn , Sydow Olof , Olson Lars , Johnels Bo , Eriksson Elias , Nissbrandt Hans 
Published: January 2005

AbstractThe multifunctional cytokine interleukin‐6 (IL‐6) is involved in inflammatory processes in the central nervous system and increased levels of IL‐6 have been found in patients with Parkinson's disease (PD). It is known that estrogen inhibits the production of IL‐6, via action on estrogen receptors, thereby pointing to an important influence of estrogen on IL‐6. In a previous study, we reported an association between a G/A single nucleotide polymorphism (SNP) at position 1730 in the gene coding for estrogen receptor beta (ERbeta) and age of onset of PD. To investigate the influence of a G/C SNP at position 174 in the promoter of the IL‐6 gene, and the possible interaction of this SNP and the ERbeta G‐1730A SNP on the risk for PD, the G‐174C SNP was genotyped, by pyrosequencing, in 258 patients with PD and 308 controls. A significantly elevated frequency of the GG genotype of the IL‐6 SNP was found in the patient group and this was most obvious among patients with an early age of onset (≤50 years) of PD. When the GG genotypes of the IL‐6 and ERbeta SNPs were combined, the combination was much more robustly associated with PD, and especially with PD with an early age of onset, than respective GG genotype when analyzed separately. Our results indicate that the G‐174C SNP in the IL‐6 promoter may influence the risk for developing PD, particularly regarding early age of onset PD, and that the effect is modified by interaction of the G‐1730A SNP in the ERbeta gene. © 2004 Wiley‐Liss, Inc.
A family study of obsessive‐compulsive disorder with pediatric probands
Authors: Hanna Gregory L. , Himle Joseph A. , Curtis George C. , Gillespie Brenda W. 
Published: January 2005

AbstractObsessive‐compulsive disorder (OCD) is a heterogeneous disorder of unknown etiology. We examined the lifetime history of obsessions, compulsions, and OCD in the first‐ and second‐degree relatives of 35 pediatric probands with OCD and 17 controls with no psychiatric diagnosis. All available first‐degree relatives were directly interviewed blind to proband status with two semi‐structured interviews. Parents were also interviewed to systematically assess the family psychiatric history of first‐ and second‐degree relatives. Best‐estimate lifetime diagnoses were made using all available sources of information. Data were analyzed with logistic regression by the generalized estimating equation method and with robust Cox regression models. The lifetime prevalence of definite OCD was significantly higher in case than control first‐degree relatives (22.5% vs. 2.6%,P < 0.05). Compared to controls, case first‐degree relatives also had significantly higher lifetime rates of obsessions and compulsions (bothP < 0.05). There was no significant difference between case and control second‐degree relatives in lifetime rates of OCD. First‐degree relatives of case probands with ordering compulsions had a significantly higher lifetime rate of definite and subthreshold OCD than relatives of case probands without ordering compulsions (45.4% vs. 18.8%,P < 0.05). The lifetime prevalence of definite OCD was significantly higher in case first‐degree relatives with a history of tics than in case first‐degree relatives without a tic history (57.1% vs. 20.9%,P < 0.01). The results provide further evidence that early‐onset OCD is highly familial and suggest that two clinical variables are associated with its familial aggregation. © 2004 Wiley‐Liss, Inc.
Familial aggregation of schizophrenia‐spectrum disorders and obsessive‐compulsive associated disorders in schizophrenia probands with and without OCD
Authors: Poyurovsky Michael , Kriss Victoria , Weisman Gregory , Faragian Sarit , Schneidman Michael , Fuchs Camil , Weizman Abraham , Weizman Ronit 
Published: January 2005

AbstractA substantial proportion of schizophrenia patients also has obsessive‐compulsive disorder (OCD). To further validate the clinical validity of a schizo‐obsessive diagnostic entity, we assessed morbid risks for schizophrenia‐spectrum disorders and OC‐associated disorders in first‐degree relatives of schizophrenia probands with and without OCD. Two groups of schizophrenia probands [with OCD (n = 57) and without OCD (n = 60)] and community‐based controls (n = 50) were recruited. One hundred eighty two first‐degree relatives of probands with OCD‐schizophrenia, 210 relatives of non‐OCD schizophrenia probands, and 165 relatives of community subjects were interviewed directly [59.3% (108/182), 51.9% (109/210), and 54.5% (90/165), respectively], using the Structured Clinical Interview for Axis‐I DSM‐IV Disorders and Axis II DSM‐III‐R Personality Disorders and the remaining relatives were interviewed indirectly, using the Family History Research Diagnostic Criteria. Relatives of OCD‐schiozphrenia probands had significantly higher morbid risks for OCD‐schizophrenia (2.2% vs. 0%; P = 0.033) and OCPD (7.14% vs. 1.90%; P = 0.014), and a trend towards higher morbid risk for OCD (4.41% vs. 1.43%; P = 0.08) compared to relatives of non‐OCD schizophrenia probands. When morbid risks for OCD, OCPD, and OCD‐schizophrenia were pooled together, the significant between‐group difference became robust (13.74% vs. 3.33%; P = 0.0002). In contrast, relatives of the two schizophrenia groups did not differ significantly in morbid risks for schizophrenia‐spectrum disorders, mood disorders, or substance abuse disorders. A differential aggregation of OC‐associated disorders in relatives of OCD‐schizophrenia versus non‐OCD schizophrenia probands, provides further support for the validity of a putative OCD‐schizophrenia (“schizo‐obsessive”) diagnostic entity. © 2004 Wiley‐Liss, Inc.
Organotins: Toxicology and biological effects
Authors: Nicklin S. , Robson M W 
Published: January 2005

AbstractOrganotins are currently one of the most studied groups of organometallic compounds; their novel and often unique chemical properties have intrigued chemists for over 100 years and, today, many of these compounds find extensive use in agriculture and industry. Over the years, however, a number of the organotins have been demonstrated to be toxic and there is now increasing concern that their widespread use may cause adverse effects within environmental and biological systems. This article reviews and updates the current literature concerning organotin toxicology. It identifies the various target organs and systems, discusses mechanisms and species susceptibility, and directs the reader to additional sources of more specialized information as appropriate.
Comparative studies of methylmercury determination in biological and environmental samples
Authors: Horvat M , May K , Stoeppler M , Byrne A R 
Published: January 2005

AbstractSome parameters affecting the accuracy of various approaches to methylmercury (MeHg) determination in biological and environmental samples were studied. Different isolation techniques (ion‐exchange, extraction, volatilization, distillation) and final measurement via cold vapour atomic absorption spectroscopy (CV AA) or gas chromatography (GC) were compared. Results obtained by the various isolation techniques are comparable for almost all biological and environmental samples, except for soils and some sediments, where disagreement between the results obtained by GC and CV AA was found. In order to resolve these problems, a new separation technique based on distillation of MeHg from the sample followed either by CV AA or GC was developed. The new method results in very good recovery and reproducibility (95 ± 2%) for all samples examined (fish, mussel, shrimp, blood, hair, algae, sediment, etc.), is specific for MeHg and provides for its differentiation from other species by an indirect CV AA determination.Gas‐chromatographic measurement of the isolated MeHg using different packings and conditioning of the columns is also discussed. The distillation method with GC detection is advantageous in producing cleaner chromatograms and in prolonging the life‐time of the packing and the intervals between reconditioning.
An improved method for the polymerization of ethynylferrocene. Conducting properties of doped polyethynylferrocene
Authors: Camus A , Faruffini V , Furlani A , Marsich N , Ortaggi G , Paolesse R , Russo M V 
Published: January 2005

AbstractThe catalytic activity of the [Rh(cod)Cl]2 complex (cod  cis, cis‐cyclo‐octa‐1,5‐diene) with respect to the polymerization of ethynylferrocene (EFc) was examined. A good yield (about 80%) of polyethynylferrocene (PEFc) was obtained in benzene by addition of sodium hydroxide as co‐catalyst. PEFc was insoluble in most organic solvents. The conductivity (s̀) of the undoped polymer is about 10−11 ohm−1 cm−1; upon doping PEFc with iodine in tetrahydrofuran the conductivity can be increased to 10‐100 ohm−1 cm−1. The influence of other doping agents was also examined.
Distribution of inorganic arsenic and methylated arsenic in marine organisms
Authors: Kaise Toshikazu , Hanaoka Ken'Ichi , Tagawa Shoji , Hirayama Teruhisa , Fukui Shozo 
Published: January 2005

AbstractInorganic arsenic and methylated arsenic compounds in 60 specimens of marine organisms were investigated by hydride generation derivatization and cold‐trap gas chromatography–mass spectrometry (GC MS). Chloroform–methanol extracts from seaweeds, shellfish, fish, crustaceans and other marine organisms were separated into water‐soluble and lipid‐soluble fractions. The arsenic compounds in each fraction were identified and analysed as arsine, methylarsine, dimethylarsine and trimethylarsine.Trimethylarsenic compounds were distributed mainly in the water‐soluble fraction of muscle of carnivorous gastropods, crustaceans and fish. The amounts of dimethylated arsenic compounds were found to be larger than that of trimethylated arsenic in the lipid‐soluble fraction of fish viscera. Dimethylated arsenic compounds were distributed in the water‐soluble fraction of Phaeophyceae.
Simultaneous butyltin determinations in the microlayer, water column and sediment of a northern Chesapeake Bay marina and receiving system
Authors: Matthias Cheryl L , Bushong Steven J , Hall Lenwood W , Bellama Jon M , Brinckman F E 
Published: January 2005

AbstractButyltins were determined in the microlayer, water column and sediment of a northern Chesapeake Bay marina and its receiving system. Concentrations of the toxicant species tributyltin (TBT) ranged from 60 to 4130 ng dm−3in the microlayer, from 34 to 367 ng dm−3in the water column and from <0.05 to 1.4 m̈g g−1(dry weight) in sediment. TBT concentrations in all three environmental compartments were higher in the marinas than in the receiving system. Concentrations of TBT in the microlayer and water column of the study area were potentially toxic to sensitive aquatic biota. The microlayer appears to be depleted in dibutyltin relative to tributyltin compared to both water column and sediment.
Heterocycles derived from dichlorothiophene
Authors: Ai‐Soudani A‐R , Massey A G 
Published: January 2005

AbstractA number of new, air‐stable heterocycles have been synthesized which contain 2,5‐dichlorothiophene groups as the structure‐forming units with sulphur, selenium, tellurium, phosphorus, arsenic, antimony, bismuth, tin and mercury acting as the hetero‐atoms.
An organoantimony catalyst for peptide synthesis; preparation and aminolysis of triphenylantimony bis(aminoacylate)s
Authors: Nomura R , Yamada Y , Matsuda H 
Published: January 2005

AbstractTriphenylantimony bis(aminoacylate)s [Ph3Sb(OA)2, A = ZGly, ZPhe, ZLeu, BzPhe] were prepared by direct condensation between triphenylstibine oxide and N‐protected amino‐acids in acetone. The aminolysis of these antimony aminoacylates by amino‐acid esters gave corresponding dipeptides, which lead to a catalytic dipeptide synthesis using triphenylstibine oxide as a catalytic precursor of the antimony aminoacylate in situ.
The influence of clay minerals, oxides, and humic matter on the methylation and demethylation of mercury by micro‐organisms in freshwater sediments
Authors: Jackson Togwell A 
Published: January 2005

AbstractLaboratory experiments and analysis of field samples showed that clay minerals, Fe and Mn oxides, and humic matter (colloids) have complex and often dramatic effects on the microbial methylation and demethylation of Hg, and on other microbial activities, in lake sediments. Depending on the nature, abundance, and surface chemistry of the colloids, the source of the sediment, the nature of the microbes, and synergistic/antagonistic effects of environmental variables, the colloids either strongly inhibited or stimulated the Hg transformations, had little or no effect, or alternated in their effects. Most of the results suggest specific effects on particular kinds of microbes, and are not attributable to general inhibition or stimulation of microbial growth or to effects due to the binding of Hg by the colloids. The colloids probably alter the species composition of the microbial community and affect the course of ecological succession, upsetting the dynamic balance between methylation and demethylation and causing alternate increases and decreases in methyl mercury (CH3Hg+) levels along with changes in other indicators of microbial activity [CO2 and CH4 production and oxidationreduction potential (Eh)].The role of clays was critically dependent on surface coatings. Clays often interfered with methylation (while in some cases strongly promoting subsequent demethylation); but iron oxide (FeOOH) often promoted methylation, and FeOOH coatings on clay tended to counterbalance the negative influence of the clay. Removal of oxide coatings depressed both methylation and demethylation. Manganese oxide (MnOOH) coatings sometimes promoted methylation, but larger amounts of MnOOH (unlike FeOOH) strongly suppressed methylation. On addition of organic nutrients, oxide coatings enhanced methylation and impeded demethylation; without nutrient enrichment, the reverse tended to occur. Humic matter in solution tended to stimulate methylation; but humic coatings on clay impeded methylation and fostered demethylation. Thus, the effects of natural colloids on Hg speciation are vitally important but variable, inconsistent, and not altogether predictable.
The analyses of alkyllead compounds in fish and environmental samples in Ontario, Canada (1981–1987)
Authors: Wong P T S , Chau Y K , Yaromich J , Hodson P , Whittle M 
Published: January 2005

AbstractAnalyses of fish and other environmental samples (clams, macrophytes, sediments and waters) from areas upstream and downstream from two alkyllead manufactures beside the St Lawrence and St Clair Rivers, Ontario, show a clear indication of elevated alkyllead levels in samples near the industries. Most species of fish contained alkyllead compounds with tetraethyllead and triethyllead as the predominant forms. Most fish from the contaminated areas contained 50–75% of total lead as alkylleads. Carp, yellow perch and white sucker were generally the most contaminated species while pike, alewife and rock bass were the least contaminated. Average alkyllead levels varied from year to year but declined steadily after 1981. For example, the geometric mean of alkyllead compounds in carp from the St Lawrence River decreased from 4207 μg kg−1 in 1981 to 2000 μg kg−1 in 1982 and to 49 μg kg−1 in 1987, reflecting the reduction of alkylleads in the effluents and the closure of one of the manufactures in 1985. Alkyllead levels were consistently lower in muscle and carcass samples in comparison with whole fish containing fatty intestines. However, muscle levels were generally equal to carcass levels.The concentrations of alkyllead compounds were generally low in clams, macrophytes, sediments and waters except from the immediate vicinity of the manufactures' final effluent discharges.
Studies of the naturally occurring biomethylation of selenium and the determination of the products
Authors: Jiang S G , Robberecht H , Adams F 
Published: January 2005

AbstractA systematic study of the biomethylation of selenium and the determination of the methylated species indicates preliminarily that selenium is susceptible to natural biomethylation under certain environmental conditions. Detectable levels of methylated selenium species, including dimethyl selenide [(CH3)2Se], dimethyl diselenide [(CH3)2Se2] and dimethylselenone [(CH3)2SeO2] have been detected by gas chromatography – graphite furnace atomic absorption spectrophotometry (GC – GF AA) from a variety of environmental samples. Findings of naturally methylated selenium species from both soil samples and related air samples suggest that there may exist a localized cycle of selenium between ground soil and the ambient air.Factors that influence the sensitivity and accuracy for the determination of alkyl selenide compounds by GC – GF AA have also been investigated. Flashlike injection mode and addition of about 10% of hydrogen gas to the argon carrier gas provide for highly sensitive detection. Reproducible determination can be obtained with a precision of about 6% and the detection limits are 0.3 ng Se m−3.