bluuebunny/crossref_metadata_2025_split huggingface dataset:
Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European multicenter association study of affective disorders
Authors: Massat Isabelle , Souery Daniel , Del‐Favero Jurgen , Van Gestel Sofie , Serretti Alessandro , Macciardi Fabio , Smeraldi Enrico , Kaneva Radka , Adolfsson Rolf , Nylander Peter O. , Blackwood Douglas , Muir Walter , Papadimitriou George N. , Dikeos Dimitris , Oruč Lilijana , Segman Ronnen H. , Ivezič Sladjana , Aschauer Harold , Ackenheil Manfred , Fuchshuber S. , Dam Henrik , Jakovljevič Miro , Peltonen Leena , Hilger Christiane , Hentges François , Staner Luc , Milanova Vihra , Jazin Elena , Lerer Bernard , Van Broeckhoven Christine , Mendlewicz Julien 
Published: October 2004

AbstractConvincing evidence for a genetic component in the etiology of affective disorders (AD), including bipolar affective disorder (BPAD) and unipolar affective disorder (UPAD), is supported by traditional and molecular genetic studies. Most arguments lead to the complex inheritance hypothesis, suggesting that the mode of inheritance is probably not Mendelian but most likely oligogenic (or polygenic) and that the contribution of genes could be moderate or weak. The purpose of the present European multicenter study (13 centers) was to test the potential role in BPAD and UPAD of two candidate dopaminergic markers, DRD2 and DRD3, using a case‐control association design. The following samples were analyzed for DRD2: 358 BPAD/358 control (C) and 133 UPAD/ 133 C subjects, and for DRD3: 325 BPAD/ 325 C and 136 UPAD/136 C subjects. Patients and controls were individually matched for sex, age ( ± five years) and geographical origin. Evidence for significant association between BPAD and DRD2 emerged, with an over‐representation of genotype 5‐5 (P = 0.004) and allele 5 (P = 0.002) in BPAD cases compared to controls. No association was found for DRD2 in UPAD, and for DRD3 neither in BPAD or UPAD. Our results suggest that the DRD2 microsatellite may be in linkage disequilibrium with a nearby genetic variant involved in the susceptibility to BPAD. Our large European sample allowed for replicating of some previous reported positive findings obtained in other study populations. © 2002 Wiley‐Liss, Inc.
High prevalence of the G101W germline mutation in the CDKN2A (P16ink4a) gene in 62 Italian malignant melanoma families
Authors: Mantelli Michela , Barile Monica , Ciotti Paola , Ghiorzo Paola , Lantieri Francesca , Pastorino Lorenza , Catricalà Caterina , Torre Gabriella Della , Folco Ugo , Grammatico Paola , Padovani Laura , Pasini Barbara , Rovini Dario , Queirolo Paola , Rainero Maria Luisa , Santi Pier Luigi , Sertoli Roberto M. , Goldstein Alisa M. , Bianchi‐Scarrà Giovanna 
Published: October 2004

AbstractCDKN2A germline mutation frequency estimates are commonly based on families with several melanoma cases. When we started counseling in a research setting on gene susceptibility analysis in northern and central Italy, however, we mostly found small families with few cases. Here we briefly characterize those kindred, estimate CDKN2A/CDK4 mutation test yields, and provide indications on the possibility of implementing formal DNA testing for melanoma‐prone families in Italy. In September 1995 we started genetic counseling in a research setting at our Medical Genetics Center. Screening for CDKN2A/CDK4 mutations was performed on families with two melanoma patients, one of whom was younger than 50 years at onset, the other complying with one of the following: 1) being a first‐degree relative, 2) having an additional relative with pancreatic cancer, or 3) having multiple primary melanomas. Sixty‐two of 67 (80%) melanoma cases met our criteria. Four previously described CDKN2A mutations (G101W, R24P, V126D, and N71S) were found in 21 of the 62 families (34%) with a high prevalence of G101W (18/21). The percentage of families with two melanoma cases/family harboring a mutation was low (7%, 2/27), but rose to 45% (9/20) if one of the melanoma patients carried multiple melanomas or if pancreatic cancer was present in that family. In the 15 families with three melanoma cases the presence of a mutation was higher (67%, 10/15) and reached 100% in the 4 families with four or more melanoma cases. Our results suggest that CDKN2A/CDK4 counseling‐based mutational analysis may be reasonably efficient also for families with two melanoma cases, if one patient carries multiple melanomas or if pancreatic cancer is present in the family. © 2002 Wiley‐Liss, Inc.
Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak‐Higashi syndrome
Authors: Karim Mohammad A. , Suzuki Koji , Fukai Kazuyoshi , Oh Jangsuk , Nagle Deborah L. , Moore Karen J. , Barbosa Ernest , Falik‐Borenstein Tzipora , Filipovich Alexandra , Ishida Yasushi , Kivrikko Sirpa , Klein Christoph , Kreuz Friedmar , Levin Alex , Miyajima Hiroaki , Regueiro Jose R. , Russo Carolyn , Uyama Eiichiro , Vierimaa Outi , Spritz Richard A. 
Published: October 2004

AbstractChediak‐Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction. Most patients present in early childhood and die unless treated by bone marrow transplantation. About 10–15% of patients exhibit a much milder clinical phenotype and survive to adulthood, but develop progressive and often fatal neurological dysfunction. Very rare patients exhibit an intermediate adolescent CHS phenotype, presenting with severe infections in early childhood, but a milder course by adolescence, with no accelerated phase. Here, we describe the organization and genomic DNA sequence of theCHS1gene and mutation analysis of 21 unrelated patients with the childhood, adolescent, and adult forms of CHS. In patients with severe childhood CHS, we found only functionally null mutantCHS1alleles, whereas in patients with the adolescent and adult forms of CHS we also found missense mutant alleles that likely encode CHS1 polypeptides with partial function. Together, these results suggest an allelic genotype–phenotype relationship among the various clinical forms of CHS. © 2002 Wiley‐Liss, Inc.
Mutations in the dopamine β‐hydroxylase gene are associated with human norepinephrine deficiency
Authors: Kim Chun‐Hyung , Zabetian Cyrus P. , Cubells Joseph F. , Cho Sonhae , Biaggioni Italo , Cohen Bruce M. , Robertson David , Kim Kwang‐Soo 
Published: October 2004

AbstractNorepinephrine (NE), a key neurotransmitter of the central and peripheral nervous systems, is synthesized by dopamine β‐hydroxylase (DBH) that catalyzes oxidation of dopamine (DA) to NE. NE deficiency is a congenital disorder of unknown etiology, in which affected patients suffer profound autonomic failure. Biochemical features of the syndrome include undetectable tissue and circulating levels of NE and epinephrine, elevated levels of DA, and undetectable levels of DBH. Here, we report identification of seven novel variants including four potentially pathogenic mutations in the human DBH gene (OMIM 223360) from analysis of two unrelated patients and their families. Both patients are compound heterozygotes for variants affecting expression of DBH protein. Each carries one copy of a T→C transversion in the splice donor site of DBH intron 1, creating a premature stop codon. In patient 1, there is a missense mutation in DBH exon 2. Patient 2 carries missense mutations in exons 1 and 6 residing in cis. We propose that NE deficiency is an autosomal recessive disorder resulting from heterogeneous molecular lesions at DBH. © 2002 Wiley‐Liss, Inc.
Frequencies of UDP‐glucuronosyltransferase 1 (UGT1A1) gene promoter polymorphisms among distinct ethnic groups from Brazil
Authors: Fertrin K.Y. , Gonçalves M.S. , Saad S.T.O. , Costa F.F. 
Published: October 2004

AbstractA polymorphism in the promoter region of the UDP‐glucuronosyltransferase 1 (UGT1A) gene is associated with Gilbert syndrome (GS), a benign form of mild unconjugated hyperbilirubinemia. We genotyped 157 individuals from Brazil, comprising 71 Caucasians, 54 African‐derived subjects, and 32 Parakanã Indians. Frequencies of the alelle (TA)7 associated with GS found in this study were 0.324, 0.407, and 0.328, respectively. The genotype frequencies differed significantly between Caucasians and African‐derived individuals. The high frequencies of (TA)7 polymorphism among the three groups confirm previous data that this polymorphism is very ancient and appears to be distributed throughout the world. © 2002 Wiley‐Liss, Inc.
Germline engineering: The moral challenges
Authors: Engelhardt H. Tristram 
Published: October 2004

AbstractNot only is the use of germline genetic engineering likely in the long run to be inevitable, there are also no convincing secular moral grounds to forbid this technology in principle. Instead, the general secular moral constraints on the use of germline genetic engineering are either procedural or without predetermined content. Nor can one develop a coherent distinction between eliminating disease and enhancing human abilities. At best, in secular morality one can establish the principle to proceed with care, though the invocation of the precautionary principle argues as much in favor of the development of germline genetic engineering as against its use. Because germline genetic engineering, by eliminating certain genetic defects, offers the prospect of decreasing human suffering and decreasing the use of prenatal diagnosis and abortion, there is an obligation, all else being equal, to change the human genome. In a post‐modern world, humans face the challenge of directing their own evolution, although they share no common understanding of human destiny and purpose. Such understandings, though available within religious contexts, are not available to secular bioethics. © 2002 Wiley‐Liss, Inc.
Mandibular variation among Chinese macaques
Authors: Pan Ruliang , Oxnard Charles , Milne Nick 
Published: October 2004

AbstractIn order to clarify the degree to which mandibular variation among Chinese macaques results from functional adaptation and phylogenetic inertia, 13 mandibular variables were analyzed by bivariate and multivariate techniques. The results indicate, not surprisingly, that the main differences in the mandible are associated with size. The study further implies that the variation between species is not closely associated with differences in functional adaptation even though the dietary and related differences are large compared to the situation in other macaques. The great variety in diet and related factors among Chinese macaques may not have yet resulted in a significant variation in the mandible. This may be because their radiation in Asia, though involving considerably greater differences in habitat, climate, and so on, has occurred more recently than for other macaque species in Southeast Asia. Mandibular variation between these species, therefore, is likely to be more closely tied to their immediate prior phylogenetic history. For example, the two stump‐tailed macaques are closely similar and are also closely similar to the Assam species. Function in the mandible in these species is quite different. The results, therefore, seem to support the hypothesis that these three macaque species should be placed in a single species‐group (sinica) as proposed by Delson [1980], Pan [1998], and Pan et al. [1998]. Am. J. Primatol. 56:99–115, 2002. © 2002 Wiley‐Liss, Inc.
Familiarity and dominance relations among female sooty mangabeys in the Taï National Park
Authors: Range Friederike , Noë Ronald 
Published: October 2004

AbstractDominance relationships of female sooty mangabeys have thus far been studied exclusively in captive groups. In captivity, adult females form a stable linear hierarchy as would be expected in species exhibiting strong contest competition. However, the same individuals do not exhibit other aspects of behavior that would be expected where contest competition occurs. For example, they show no kin‐based alliances leading to hierarchies in which the members of each matriline occupy adjacent ranks. The goal of this study was to provide the first data on dominance relationships of sooty mangabey females in their natural environment in the Taï National Park, Ivory Coast. In our study group, adult females formed a linear dominance hierarchy. Aggression over food increased in food patches, as would be expected for species that experience contest competition. Moreover, females formed highly differentiated social relationships, showing particular affinities with females of adjacent rank. Am. J. Primatol. 56:137–153, 2002. © 2002 Wiley‐Liss, Inc.
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease
Authors: Rosso Sonia M. , Van Herpen Esther , Deelen Wout , Kamphorst Wouter , Severijnen Lies‐Anne , Willemsen Rob , Ravid Rivka , Niermeijer Martinus F. , Dooijes Dennis , Smith Michael J. , Goedert Michel , Heutink Peter , Van Swieten John C. 
Published: October 2004

AbstractMutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with presenile dementia. To our knowledge, it is the first mutation to be described in exon 11 of tau. The proband died at age 53 years, after a disease duration of 15 years, and autopsy revealed a neuropathological picture similar to Pick's disease. Recombinant tau protein with the S320F mutation showed a greatly reduced ability to promote microtubule assembly.
Studies on surface energetics of glass fabrics in an unsaturated polyester matrix system: Effect of sizing treatment on glass fabrics
Authors: Park Soo‐Jin , Kim Taek‐Jin 
Published: October 2004

AbstractThe surfaces of glass fibers were sized by polyvinyl alcohol (PVA), polyester, and epoxy resin types in order to improve the mechanical interfacial properties of fibers in the unsaturated polyester matrix. The surface energetics of the glass fibers sized were investigated in terms of contact angle measurements using the wicking method based on the Washburn equation, with deionized water and diiodomethane as the wetting liquids. In addition, the mechanical behaviors of the composites were studied in the context of the interlaminar shear strength (ILSS), critical stress intensity factor (KIC), and flexural measurements. Different evolutions of the London dispersive and specific (or polar) components of the surface free energy of glass fibers were observed after different sizing treatments. The experimental result of the total surface free energies calculated from the sum of their two components showed the highest value in the epoxy‐sized glass fibers. From the measurements of mechanical properties of composites, it was observed that the sizing treatment on fibers could improve the fiber–matrix interfacial adhesion, resulting in improved final mechanical behaviors, a result of the effect of the enhanced total surface free energy of glass fibers in a composite system. © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 1439–1445, 2001
Acrylate‐based liquid rubber as impact modifier for epoxy resin
Authors: Ratna D. , Banthia A. K. , Deb P. C. 
Published: October 2004

AbstractCarboxyl‐terminated poly(2‐ethyl hexyl acrylate) (CTPEHA) having various molecular weights were synthesized by bulk polymerization in the form of liquid rubber. The liquid rubbers (LR‐1 to LR‐4) were characterized by 13C‐NMR spectroscopic analysis, nonaqueous titration, and vapor‐pressure osmometry (VPO). The liquid rubber having the lowest molecular weight (M̄n = 3600) was prereacted with the epoxy resin and the modified epoxy networks were made by curing with an ambient temperature curing agent. The modified epoxy networks containing different concentrations of CTPEHA were evaluated with respect to their thermal and impact properties. The optimum properties were obtained at about 10–15 phr of CTPEHA concentration (phr stands for parts per hundred parts of epoxy resin). Fracture surface analysis by scanning electron microscopy (SEM) indicated the presence of a two‐phase microstructure. © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 1792–1801, 2001
Copolymerization of N‐substituted maleimide with alkyl acrylate and its industrial applications
Authors: Thamizharasi S. , Reddy B. S. R. 
Published: October 2004

AbstractA series of new copolymers with desired thermal stability and mechanical properties for applications in leather industry were synthesized from various substituted maleimides and alkyl acrylates. Polymerization was carried out by a free‐radical polymerization using benzoyl peroxide (BPO) as initiator. The monomers and polymers synthesized were characterized by elemental analysis, IR, and nuclear magnetic resonance (NMR). Interestingly, these polymers were soluble in common organic solvents. Copolymer composition and reactivity ratios were determined by 1H‐NMR spectra. The molecular weights of the polymers were determined by gel permeation chromatography. The homo‐ and copolymer of maleimide showed single‐stage decomposition (ranging from 300–580°C). The initial decomposition temperatures of poly[N‐(phenyl)maleimide] [poly(PM)], poly[N‐4‐(methylphenyl)maleimide] [poly(MPM)] and poly[N‐3‐(chlorophenyl)maleimide] [poly(CPM)] were higher compared to those of the copolymers. Heat‐resistant adhesives such as blends of epoxy resin with phenyl‐substituted maleimide‐co‐glycidyl methacrylate copolymers with improved adhesion property were developed. Different adhesive formulations of these copolymaleimides were prepared by curing with diethanolamine at two different temperatures (30°C and 60°C). © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 1870–1879, 2001
The effects of p‐butoxyphenylcyclohexyl‐phosphinic acid on the properties of PC based on Bisphenol A
Authors: Ozden S. , Shaov A. H. , Charayev A. M. , Gurdaliyev X. X 
Published: October 2004

AbstractA polymer stabilizer, p‐butoxyphenylcyclohexyl‐phosphinic acid, was introduced into an industrial polymer, a Bisphenol A‐based polycarbonate, and the effects of this stabilizer on the mechanical and thermal properties were investigated. The mechanical properties were improved with small amount of stabilizers, while thermal properties were not effected significantly. For higher contents of stabilizer, both thermal and mechanical properties were deteriorated. This deterioration was caused by the increase of molecular distance between the chains, which lead to the reduction of polar forces and an increase in the free volume of the polymer. © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 2113–2119, 2001
Sorption properties of poly(styrene‐co‐divinylbenzene) amine functionalized weak resin
Authors: Rivas Bernabé L. , Pooley S. Amalia , Maturana Hernán A. , Villegas Sandra 
Published: October 2004

AbstractThe poly(styrene‐co‐divinylbenzene) amine functionalized weak resin was studied as adsorbent of heavy metal ions from an aqueous solution by using the Batch equilibrium procedure. The resin adsorbed Hg(II) 56% (0.56 mEq/g) at pH 2, and 45% (1.13 mEq/g) of U(VI), 38% (0.36 mEq/g) of Pb(II) at pH 5 from an aqueous solution containing 1 g/L of each metal ion. It did not adsorb Cd(II), Zn(II). The equilibrium time was achieved during the first hour. The maximum load capacity for Hg(II) was 0.8 mEq/g (75 mg)/g dry resin. It is possible to recover around 60% of the resin after the treatment with 1–4 M HClO4 and HNO3 of the loaded Hg(II) resin. © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 2123–2127, 2001
Dielectric properties and ferroelectric behavior of poly(vinylidene fluoride‐trifluoroethylene) 50/50 copolymer ultrathin films
Authors: Xu Haisheng 
Published: October 2004

AbstractUltrathin films of poly(vinylidene fluoride‐trifluoroethylene) copolymer [P(VDF‐TrFE), with a content (mol %) ratio of 50/50 VDF/TrFE] were fabricated on silicon wafers covered with platinum by a spin‐coating technique, ranging in thickness from 20 nm to 1 μm. The effect of thickness on dielectric properties and polarization behavior was investigated. A critical thickness was found to be about 0.1 μm. An abrupt drop of dielectric constant was observed, although there is no significant change in dielectric loss at this thickness. Square and symmetric hysteresis loops were obtained in films thicker than 0.1 μm. However, for films thinner than 0.1 μm, fewer square hysteresis loops were observed. SEM and X‐ray results demonstrate that the effect of thickness on dielectric and ferroelectric properties could be explained by the changes of crystal structure in these films. In addition, the effects of irradiation on dielectric property and polarization response for ultrathin P(VDF‐TrFE) films were also presented. © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 2259–2266, 2001
Miscibility of block copolymers of poly(ε‐caprolactone) and poly(ethylene glycol) with poly(3‐hydroxybutyrate) as well as the compatibilizing effect of these copolymers in blends of poly(ε‐caprolactone) and poly(3‐hydroxybutyrate)
Authors: Shuai Xintao , He Yong , Na Yang‐Ho , Inoue Yoshio 
Published: October 2004

AbstractAtactic poly(3‐hydroxybutyrate) (a‐PHB) and block copolymers of poly(ethylene glycol) (PEG) with poly(ε‐caprolactone) (PCL‐b‐PEG) were synthesized through anionic polymerization and coordination polymerization, respectively. As demonstrated by differential scanning calorimetry (DSC) and dynamic mechanical thermal analysis (DMTA) measurements, both chemosynthesized a‐PHB and biosynthesized isotactic PHB (i‐PHB) are miscible with the PEG segment phase of PCL‐b‐PEGs. However, there is no evidence showing miscibility between both PHBs and the PCL segment phase of the copolymer even though PCL has been block‐copolymerized with PEG. Based on these results, PCL‐b‐PEG was added, as a compatibilizer, to both the PCL/a‐PHB blends and the PCL i‐PHB blends. The blend films were obtained through the evaporation of chloroform solutions of mixed components. Excitingly, the improvement in mechanical properties of PCL/PHB blends was achieved as anticipated initially upon the addition of PCL‐b‐PEG. © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 2600–2608, 2001
High molecular weight tail and long‐chain branching in low‐density polyethylenes
Authors: Beer F. , Capaccio G. , Rose L. J. 
Published: October 2004

AbstractThe composition of the high molecular weight tail in branched low‐density polyethylenes made by both tubular and autoclave reactors was studied in detail using size‐exclusion chromatography (SEC) coupled with a viscosity detector (VD) and a two‐angle light‐scattering detector (LSD). The detection of a second peak at very small elution volumes in the light‐scattering chromatogram but not in the refractive index chromatogram and viscosity chromatogram is due to high molecular weight species. It is also indicative of a change in the long‐chain branching distribution. It was found that the intrinsic viscosity contraction factor g′ scales with the radius of the gyration contraction factor, g, with the exponent, ε, having a value in the range 0.4–1.4. Furthermore, ε shows significant molar mass dependence. © 2001 John Wiley & Sons, Inc. J Appl Polym Sci 80: 2815–2822, 2001