bluuebunny/crossref_metadata_2025_split huggingface dataset:
Meier‐Gorlin syndrome (ear–patella–short stature syndrome) in an Italian patient: Clinical evaluation and analysis of possible candidate genes
Authors: Cohen Amnon , Mulas Roberta , Seri Marco , Gaiero Alberto , Fichera Graziella , Marini Monica , Baffico Maria , Camera Gianni 
Published: August 2002

AbstractWe report on an Italian boy with the Meier‐Gorlin syndrome (ear–patella–short stature syndrome). This rare autosomal recessive disorder comprises the triad of microtia, absent patellae, and growth retardation with prenatal onset. The patient had also an acute torsion of his left spermatic cord, a condition related to a congenital defect of the tunica vaginalis. Because this syndrome had been suggested as the human equivalent of the short ear mouse [Lacombe et al., 1994: Ann. Genet. 37:184–191], a mutation analysis of the BMP5 gene was performed and found normal. The LMX1B and the SHOX genes were also evaluated considering the absent patellae and short stature, respectively, and were found normal as well. © 2001 Wiley‐Liss, Inc.
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis
Authors: Visapää Ilona , Fellman Vineta , Lanyi Lisa , Peltonen Leena 
Published: August 2002

AbstractGRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death; OMIM 603358) is a rare metabolic disorder with autosomal recessive mode of inheritance. So far it has been diagnosed only in patients with Finnish ancestors. The GRACILE locus has been positioned to a restricted region of chromosome 2q33–37, but the causative gene remains to be identified. The ABCB6 gene, involved in iron homeostasis, mitochondrial respiratory function, and maintenance of the stability of mitochondrial DNA, has been positioned to this same chromosomal region, and advocated in literature as a highly probable candidate gene for the syndrome on both functional and positional grounds. We carried out sequence and quantitative expression analyses to detect potential disease‐associated mutations in the ABCB6 gene. No mutations in the coding region of ABCB6 were found, and the expression level of ABCB6 in patient fibroblasts was found to be comparable to controls. Haplotype analysis of the critical DNA region provided evidence for positional exclusion also. Based on these data, ABCB6 is not the causative gene for GRACILE syndrome. © 2002 Wiley‐Liss, Inc.
Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs
Authors: Mégarbané André , Hersh Joseph H. , Chouery Eliane , Fabre Michel 
Published: August 2002

AbstractA sister and a brother with anomalous skull configuration, facial abnormalities, abnormal scalp hair growth, sensorineural hearing loss and, in the boy, proven craniosynostosis, severe mental retardation, and autism were reported in 1986 in an abstract by Hersh et al. We reexamined this family and here review the literature focusing on the major clinical findings, and suggest that their clinical manifestations may represent a previously unreported syndrome. © 2002 Wiley‐Liss, Inc.
Relationship between Taq1 A dopamine D2 receptor (DRD2) polymorphism and prolactin response to bromperidol
Authors: Mihara Kazuo , Suzuki Akihito , Kondo Tsuyoshi , Yasui‐Furukori Norio , Ono Shingo , Otani Koichi , Kaneko Sunao , Inoue Yoshimasa 
Published: August 2002

AbstractThe dopamine D2 receptor (DRD2) gene has a Taq1 A restriction fragment length polymorphism yielding two alleles, A1 and A2. We have previously shown that female patients with the A1 allele show greater prolactin response to nemonapride, a selective antagonist for D2‐like dopamine receptors, in schizophrenic patients. In the present study, the relationship between this polymorphism and prolactin response to bromperidol was investigated in 32 untreated schizophrenic inpatients (16 males, 16 females). The daily dose of bromperidol was fixed at 6 (n = 10), 12 (n = 13), or 18 mg (n = 9) during a 2‐week treatment period. Taq1 A genotypes were determined by PCR method. Plasma prolactin concentration was measured by radioimmunoassay. Plasma concentration of bromperidol was measured by HPLC method. The subjects were divided into four subgroups by gender and the genotypes, i.e., 10 males and 11 females with the A1 allele, 6 males and 5 females with no A1 allele. The females with the A1 allele had the highest Δ prolactin (the change from the pretreatment concentration)/bromperidol concentration ratio among the other groups (P < 0.05). The present study thus suggests that female patients with the A1 allele show greater prolactin response to bromperidol, who may have a high risk for adverse effects associated with neuroleptic‐induced hyperprolactinemia. © 2001 Wiley‐Liss, Inc.
Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families
Authors: Li Jun , Tabor Holly K. , Nguyen Loan , Gleason Christopher , Lotspeich Linda J. , Spiker Donna , Risch Neil , Myers Richard M. 
Published: August 2002

AbstractA recent report suggested that the HoxA1 and/or HoxB1 genes play a role in susceptibility to autism. To determine whether these findings could be confirmed, we screened these genes for DNA polymorphisms by sequencing all exons in 24 individuals with autism. We identified the same sequence variants in the genes that appeared in this report, which include one single‐base substitution variant in HoxA1 and a common haplotype in HoxB1. We performed an association study by applying the transmission disequilibrium test to detect possible association of these variants to autism in 110 multiplex families. Our results demonstrated no deviation from the null hypothesis of no association. We have also separately examined transmissions within individual mating types, for paternal versus maternal alleles, to affected versus unaffected children, and for transmission to affected boys versus girls. None of these subsets revealed significant deviation from the null expectation. Our interpretation of these findings is that it is unlikely that HoxA1 and HoxB1 play a significant role in the genetic predisposition to autism. © 2001 Wiley‐Liss, Inc.
Effects of food availability on serum insulin and lipid concentrations in free‐ranging baboons
Authors: Kemnitz Joseph W. , Sapolsky Robert M. , Altmann Jeanne , Muruthi Philip , Mott Glen E. , Stefanick Marcia L. 
Published: August 2002

AbstractThe relationship between food availability and metabolic physiology was studied in groups of free‐ranging baboons (Papio spp.) living in the Amboseli National Park and the Masai Mara National Reserve of Kenya. Three groups subsisted entirely on natural forage, while two other groups lived near tourist facilities and often consumed food wastes from these lodges. The refuse provided a very accessible food source with relatively high caloric density. Consumption of the refuse was associated with reduced locomotion. Sexually mature individuals from all five groups were sedated surreptitiously in the early morning and blood samples were collected. Compared to animals foraging exclusively in the wild, animals that supplemented their diet with the refuse items had two‐ to threefold elevations in serum insulin concentrations, as well as increased total cholesterol (C), HDL‐C, and VLDL+LDL‐C levels. No sex differences in physiological measures were observed except in body mass. Elevated serum insulin, and cholesterol and lipoprotein concentrations influence the development of cardiovascular disease and have been shown to be subject to dietary manipulation and exercise under controlled conditions. The present results suggest potentially deleterious effects of a highly accessible, calorically dense food source, and associated reduction of physical activity for baboons living in an otherwise natural environment. Am. J. Primatol. 57:13–19, 2002. © 2002 Wiley‐Liss, Inc.
Multiple sirehood in free‐ranging twin rhesus macaques (Macaca mulatta)
Authors: Bercovitch Fred B. , Widdig Anja , Berard John D. , Nürnberg Peter , Kessler Matt J. , Schmidtke Jörg , Trefilov Andrea , Krawczak Michael 
Published: August 2002

AbstractRhesus macaque females regularly copulate with a number of partners, and produce a single offspring per reproductive cycle in over 99% of cases. We used genotyping of 10 STR markers to determine paternity in the Cayo Santiago population of rhesus macaques. About 1,500 monkeys have been analyzed to date, with their marker genotypes entered into a computerized database. These data enable us to report the first documented case in any cercopithecine nonhuman primate species of the production of twin offspring sired by different males. Am. J. Primatol. 57:31–34, 2002. © 2002 Wiley‐Liss, Inc.
Melatoninergic neuroprotection of the murine periventricular white matter against neonatal excitotoxic challenge
Authors: Husson Isabelle , Mesplès Bettina , Bac Pierre , Vamecq Joseph , Evrard Philippe , Gressens Pierre 
Published: August 2002

AbstractPeriventricular leukomalacia is one of the main causes of cerebral palsy. Perinatal white matter lesions associated with cerebral palsy appears to involve glutamate excitotoxicity and excess free radical production. When injected intracerebrally into newborn mice, the glutamatergic analog ibotenate induces white matter cysts mimicking human periventricular leukomalacia. Melatonin acts on specific receptors. It also exhibits intrinsic free radical scavenging properties. The goal of the present study is to determine whether melatonin can protect against excitotoxic lesions induced by ibotenate in newborn mice. Mice that received intraperitoneal melatonin had an 82% reduction in size of ibotenate‐induced white matter cysts when compared with controls. Although melatonin did not prevent the initial appearance of white matter lesions, it did promote secondary lesion repair. Axonal markers supported the hypothesis that melatonin induced axonal regrowth or sprouting. The protective effects of melatonin were suppressed by coadministration of luzindole, a melatonin receptor antagonist. Forskolin, an adenylate cyclase activator, prevented the protective effects of melatonin; inhibitors of protein kinase C and mitogen‐associated protein kinase had no detectable effect. Melatonin and derivatives that block cAMP production through activation of melatonin receptors could represent new avenues for treating human periventricular leukomalacia.
Complex immunomodulatory effects of interferon‐β in multiple sclerosis include the upregulation of T helper 1‐associated marker genes
Authors: Wandinger Klaus‐Peter , Stürzebecher Claus‐Steffen , Bielekova Bibiana , Detore Greg , Rosenwald Andreas , Staudt Louis M. , McFarland Henry F. , Martin Roland 
Published: August 2002

AbstractMultiple sclerosis (MS) is considered an autoimmune disease that is mediated by proinflammatory T helper‐1 lymphocytes. The putative mechanism of interferon‐β (IFN‐β), an approved treatment for MS, includes the inhibition of T‐cell proliferation, blocking of blood‐brain‐barrier opening and T‐cell transmigration into the brain via interference with cell adhesion, and the upregulation of anti‐inflammatory (TH2) cytokines. In the present study, a gene expression analysis of IFN‐β‐treated peripheral blood mononuclear cells by cDNA microarray documents the broad effects of IFN‐β that are not purely anti‐inflammatory. Specifically, we addressed the effect of IFN‐β on T helper‐1 differentiation‐ or lineage markers such as the IL‐12 receptor β2 chain and the chemokine receptor CCR5 that have been implicated in the pathogenesis of MS. Both markers were significantly upregulated in vitro and in vivo under IFN‐β therapy, supporting that this cytokine exerts complex effects on the immune system. The combination of cDNA microarray and quantitative polymerase chain reaction will expand our knowledge of the immunological effects of such pleiotropic agents as IFN‐β, may provide a key to why certain patients fail to respond, and eventually influence our view of the disease pathogenesis.
Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy
Authors: Liu Wan‐Kyng , Le Tien V. , Adamson Jennifer , Baker Matthew , Cookson Natalie , Hardy John , Hutton Michael , Yen Shu‐Hui , Dickson Dennis W. 
Published: August 2002

AbstractTwo extended haplotypes of the tau gene (H1 and H2) have been described. The frequency of H1 haplotype is increased in progressive supranuclear palsy (PSP). PSP is associated with filamentous tau lesions in neurons and glia, which are reportedly composed exclusively of tau isoforms with four repeats in the microtubule‐binding domain (4R tau). To determine the influence of the tau haplotype on tau isoform composition and neuropathology, we studied 25 PSP cases and 6 Alzheimer's disease patients matched for age, sex, and postmortem delay. In the basal ganglia, tau and amyloid burdens were determined to see if there was an effect of concurrent Alzheimer‐type pathology, and the ratio of 4R to 3R tau was measured in detergent‐insoluble tau fractions. Insoluble tau from PSP was not composed exclusively of 4R tau. All brains had a mixture of 4R and 3R tau, but the ratio was different in Alzheimer's disease and PSP. In Alzheimer's disease there was less 4R than 3R tau, whereas the ratio was reversed in PSP. In PSP cases with concurrent Alzheimer‐type pathology, the ratio of 4R to 3R was intermediate between Alzheimer's disease and PSP. The H1 haplotype had no effect on the 4R to 3R ratio or on tau and amyloid burdens. In summary, the H1 haplotype does not have a major influence on the pathological or biochemical phenotype of PSP.
Biotransformation of arsenite in freshwater food‐chain models
Authors: Suhendrayatna  , Ohki Akira , Maeda Shigeru 
Published: August 2002

AbstractBioaccumulation and biotransformation of arsenite by freshwater organisms consisting Daphnia magna, Neocaridina denticulata and Tilapia mossambica has been studied. When organisms were exposed to a medium containing arsenite, the total arsenic concentration accumulated by the organisms increased with an increase in the arsenic concentration in the medium. The order of total arsenic accumulation by freshwater organisms was D. magna > N. denticulata > T. mossambica. Bioaccumulation and biotransformation of arsenite in three‐step laboratory food‐chain models was investigated by feeding a diet of arsenite‐dosed alga (Chlorella vulgaris) to herbivorous grazers (D. magna and N. denticulata) and then the herbivores were fed to carnivorous fish (T. mossambica and Zacco platypus). Total arsenic concentrations in the organisms decreased by an order of magnitude for each step in the food chain. Arsenite and arsenate were accumulated as the predominant arsenic species in organisms. Little methylation of arsenic in organisms occurred at each step in the food chain. Copyright © 2001 John Wiley & Sons, Ltd.
Silylation–desilylation of quinones and their derivatives
Authors: Bakola‐Christianopoulou Maria N. 
Published: August 2002

AbstractThe silylation of quinones and their substituted derivatives for the protection of the reactive quinonic moiety and/or reactive substituents (in particular hydroxyl groups) is discussed in view of the wide applicability of the reaction for synthetic, biological and analytical purposes. Furthermore, the most common and efficient methods for the subsequent desilylation of the silylated quinones and their derivatives to the parent quinones or to the corresponding hydroquinones are discussed. Copyright © 2001 John Wiley & Sons, Ltd.
Isothermal curing by dynamic mechanical analysis of three epoxy resin systems: Gelation and vitrification
Authors: López J. , Ramírez C. , Torres A. , Abad M. J. , Barral L. , Cano J. , Díez F. J. 
Published: August 2002

AbstractTimes to gelation (tgel) and times to vitrification (tvit) during isothermal curing for the epoxy systems diglycidyl ether of bisphenol A (DGEBA)/1,3‐bisaminomethylcyclohexane (1,3‐BAC), tetraglycidyl‐4,4′‐diaminodiphenylmethane (TGDDM)/4‐4′‐diaminodiphenylsulfone (DDS), and TGDDM/epoxy novolac (EPN)/DDS were measured at different curing temperatures. This article reports on a method to determine tgel and tvit by dynamic mechanical analysis (DMA). Gelation was determined at the onset of the storage modulus or by the peak of the loss factor. Vitrification was defined as the curve of the storage modulus as the curve reached a constant level (endset) in DMA tests. The experimental values obtained for tgel and tvit were compared with values obtained by other experimental methods and with theoretical values (tgel's) or indirect determinations (tvit's). From kinetic analysis by differential scanning calorimetry, conversions corresponding to gelation were obtained for the three systems; this yielded a constant value for each system that was higher than theoretical value. Values of the apparent activation energies of the DGEBA/1,3‐BAC, TGDDM/DDS, and TGDDM/EPN/DDS epoxy systems were obtained from plots of tgel's against reciprocal temperatures. They were 53.2, 58.2, and 46.5 kJ/mol, respectively. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 78–85, 2002
Modification of epoxy resin by isocyanate‐terminated polybutadiene
Authors: Barcia Fábio L. , Abrahão Márcio A. , Soares Bluma G. 
Published: August 2002

AbstractHydroxy‐terminated polybutadiene was functionalized with isocyanate groups and employed in preparation of a block copolymer of polybutadiene and bisphenol A diglycidyl ether (DGEBA)‐based epoxy resin. The block copolymer was characterized by Fourier transform infrared (FTIR) spectroscopy and size‐exclusion chromatography (SEC). Cured blends of epoxy resin and hydroxy‐terminated polybutadiene (HTPB) or a corresponding block copolymer were characterized by differential scanning calorimetry (DSC), dynamic mechanical analysis (DMTA), and scanning electron microscopy (SEM). All modified epoxy resin networks presented improved impact resistance with the addition of the rubber component at a proportion up to 10 wt % when compared to the neat cured resin. The modification with HTPB resulted in milky cured materials with phase‐separated morphology. Epoxy resin blends with the block copolymer resulted in cured transparent and flexible materials with outstanding impact resistance and lower glass transition temperatures. No phase separation was discernible in blends with the block copolymer. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 838–849, 2002
Adsorption of Ni2+ from aqueous solutions by novel polyethyleneimine‐attached poly(p‐chloromethylstyrene) beads
Authors: Say Ridvan , Tuncel Ali , Denizli Adil 
Published: August 2002

AbstractIn this study Ni2+ adsorption properties of polyethyleneimine (PEI)‐attached poly(p‐chloromethylstyrene) (PCMS) beads were investigated. Spherical beads with an average size of 186 μm were obtained by the suspension polymerization of p‐chloromethylstyrene conducted in an aqueous dispersion medium. Owing to the reasonably rough character of the bead surface, PCMS beads had a specific surface area of 14.1 m2/g. PEI chains could be covalently attached onto the PCMS beads with equilibrium binding capacities up to 208 mg PEI/g beads, via a direct chemical reaction between the amine and chloro‐methyl groups. After PEI adsorption with 10% (w/w) initial PEI concentration, free amino content of PEI‐attached PCMS beads was determined as 0.91 mEq/g. PEI‐attached PCMS beads were utilized as adsorbents in the adsorption/desorption of Ni2+ ions from synthetic solutions. The adsorption process was fast; 90% of adsorption occurred within 90 min, and equilibrium was reached at around 2 h. Adsorption capacity was obtained to be 78.2 mg/g at a pH of about 6.0. The chelating beads can be easily regenerated by 0.1 M HNO3 with higher effectiveness. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2467–2473, 2002
Physical and mechanical properties of Al(OH)3/polypropylene composites modified by in situ‐functionalized polypropylene
Authors: Mai Kancheng , Li Zhengjun , Qiu Yuxin , Zeng Hanmin 
Published: August 2002

AbstractAl(OH)3/polypropylene (PP) composites modified by in situ‐functionalized polypropylene (FPP) were prepared by a one‐step melt‐extrusion process. The effect of in situ FPP on the crystallization and melting behavior, melt‐flow index, limiting oxygen index, thermal degradation, mechanical properties, and fracture morphology of Al(OH)3/PP composites was studied. Formation of in situ FPP resulted in a decreased crystallization temperature and melting point of PP in the composites, an increased melt‐flow index, and improved tensile and flexural strengths of Al(OH)3/PP composites, whereas the thermal degradation behavior and limiting oxygen index was not been influenced. The impact strength of the Al(OH)3/PP composites modified by in situ FPP depended upon the content of the initiator, dicumyl peroxide, and the monomer, acrylic acid. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2850–2857, 2002; DOI 10.1002/app.10269
Mechanochemical copolymerization of methyl methacrylate and styrene initiated by the grinding of quartz
Authors: Hasegawa Masahiro , Kimata Mitsumasa , Kobayashi Shun‐Itsu 
Published: August 2002

AbstractThe copolymerization of methyl methacrylate and styrene mechanochemically initiated by the grinding of quartz in the monomer mixture was investigated by using a vibrating ball mill. The effect of the grinding of quartz on the copolymerization was investigated by characterizing both the polymer formed and the ground quartz. The copolymerization proceeds apparently from the quartz grindings and was closely related to the total surface area of the ground quartz. The molecular weight distributions of the copolymers formed were unimodal as found in a homopolymer of only methyl methacrylate. It was clear from the composition analysis of the copolymer that the mechanochemical copolymerization of methyl methacrylate and styrene proceeded with a radical polymerization mechanism because of radicals on the quartz surface produced by the grinding. The monomer reactivity ratios obtained by the Fineman‐Ross method suggested that the copolymers formed were alternating copolymers. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 84: 2011–2017, 2002; DOI 10.1002/app.10544
Solid‐state 13C‐NMR and study of the subproducts obtained from corn industry
Authors: Mothé C. G. , Machado M. G. S. , Tavares M. I. B. 
Published: August 2002

AbstractThe two types of commercial corn flour subproducts from the Brazilian corn industry containing starch with low fat and with fat were investigated by solid‐state NMR techniques to improve their uses. From the NMR techniques used, it was characterized that after a treatment the quantity of fibers decreased. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 84: 1680–1685, 2002; DOI 10.1002/app.10547