bluuebunny/crossref_metadata_2025_split huggingface dataset:
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome
Authors: Raas‐Rothschild Annick , Shteyer Eyal , Lerer Israela , Nir Amiram , Granot Esther , Rein Azaria J.J.T. 
Published: October 2002

AbstractCongenital cardiac defects such as peripheral pulmonary stenosis are well described in Alagille syndrome (AGS), which is transmitted in an autosomal dominant inheritance. Haploinsufficiency of the Jagged1 (JAG1) gene has been shown to cause AGS. Abdominal coarctation is an uncommon vascular congenital anomaly which has been described only three times in AGS. Recently, expression of the Jagged1 gene has been found in the developing heart and in multiple associated vascular structures, including the descending aorta. Mutation analysis of the Jagged1 gene in this fourth reported patient with coarctation of the abdominal aorta in AGS and right subclavian stenosis identified a mutation deletion (1485 Del CT). This agrees with the Jagged1 expression studies and suggests that coarctation of aorta may be a component of AGS. © 2002 Wiley‐Liss, Inc.
Three novel DNMT3B mutations in Japanese patients with ICF syndrome
Authors: Shirohzu Hisao , Kubota Takeo , Kumazawa Azumi , Sado Takashi , Chijiwa Takahito , Inagaki Kouichi , Suetake Isao , Tajima Shoji , Wakui Keiko , Miki Yuko , Hayashi Masatoshi , Fukushima Yoshimitsu , Sasaki Hiroyuki 
Published: October 2002

AbstractICF syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial anomalies. It is caused by mutations in a de novo DNA methyltransferase gene, DNMT3B. We here report the first three Japanese cases of ICF syndrome from two unrelated families. All patients had typical facial dysmorphism and immunoglobulin A (IgA) deficiency, but none of them had apparent mental retardation. Cytogenetic analysis of peripheral blood lymphocytes showed chromosomal abnormalities, including multiradial configurations and a stretching of the pericentromeric heterochromatin of chromosomes 1 and 16. Hypomethylation of classical satellite 2 DNA was also observed. Mutation analyses of DNMT3B revealed three novel mutations: patient 1 from the first family was a compound heterozygote for a nonsense mutation (Q42Term) and a missense mutation (R832Q); patients 2 and 3 from the second family were both homozygous for a missense mutation (S282P). The R832Q mutation occurred within the conserved methyltransferase domain, and thus may affect the enzyme activity directly. The S282P mutation, on the other hand, occurred close to the PWWP domain, which is presumably involved in protein‐protein interaction. This is the first missense mutation mapped to the N‐terminal half of the protein, suggesting that the region plays an important role in the regulation of the DNMT3B enzyme. © 2002 Wiley‐Liss, Inc.
20‐Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb
Authors: Bonaglia Maria Clara , Giorda Roberto , Carrozzo Romeo , Roncoroni Maria Elena , Grasso Rita , Borgatti Renato , Zuffardi Orsetta 
Published: October 2002

AbstractWe studied the case of a girl with a partial 9p duplication, dup(9)(p22.1 → p13.1). Molecular cytogenetics studies defined the chromosome 9 rearrangement as a direct duplication of 20 Mb from D9S1213 to D9S52. Microsatellite analysis demonstrated the presence of a double dosage of the paternal alleles and demonstrated that the duplication occurred between sister chromatids. The patient's phenotype was almost normal, with a few minor anomalies (dolichocephaly, crowded teeth, high arched palate) and normal IQ. The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6‐Mb portion of chromosome 9p22 between markers D9S267 and D9S1213. © 2002 Wiley‐Liss, Inc.
Evidence for imprinting on chromosome 16: The effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies
Authors: Yong P.J. , Marion S.A. , Barrett I.J. , Kalousek D.K. , Robinson W.P. 
Published: October 2002

AbstractAlthough a number of infants with maternal uniparental disomy of chromosome 16 (upd(16)mat) have been reported, the evidence for imprinting on chromosome 16 is not yet conclusive. To test the hypothesis that upd(16)mat has a distinct phenotype, which would support the existence of imprinted gene(s) on chromosome 16, statistical analysis was performed on a large series (n = 83) of mosaic trisomy 16 cases with molecular determination of uniparental disomy status. The incidence of upd(16)mat was 40%, which is consistent with the expected one third from random chromosome loss during trisomy rescue (P = 0.262). In pairwise comparisons, upd(16)mat was found to be associated with fetal growth restriction (P = 0.029) and with increased risk of major malformation (RR = 1.43; P = 0.053). Regression modeling showed that the effect of upd(16)mat on fetal/neonatal weight and malformation is independent of the degree of trisomy detected in the fetus. Regression modeling to control for the degree of trisomy detected in the placenta was not possible due to limited sample size. We conclude that upd(16)mat is associated with more severe growth restriction, and possibly, with higher risk of malformation. Our hypothesis is that imprinted gene(s) exist on chromosome 16 and that abnormal expression of these gene(s) in upd(16)mat cells during development results in decreased cell proliferation. Although we do not advocate prenatal testing for upd(16), studies on the long‐term outcome of upd(16)mat neonates is necessary for counseling purposes. © 2002 Wiley‐Liss, Inc.
Temporal trends in femoral curvature and length in medieval and modern Scotland
Authors: Bruns Wolfgang , Bruce Margaret , Prescott Gordon , Maffulli Nicola 
Published: October 2002

AbstractWe measured how much the radius of the anterior curvature and the length of the femoral shaft of cadaveric bones have changed from medieval to recent times. Around 20 (x, y) coordinates of a virtual coordinate system were measured at intervals of 1.5 cm along the shaft of the femur to calculate one single radius of a virtual circle in the (x, y) plane. The median radii of curvature were 119, 141, and 158 cm for medieval, early, and late 20th century femora, respectively. Early and late 20th century femora were of similar length (45 cm), but medieval femora were shorter (43.5 cm). Femora have become not only longer but also straighter since the Middle Ages. These findings account in part for the increase in height of modern generations. Size and shape changes may have significant implications for the biomechanical response of the femur to the forces to which it is subjected in everyday life, in trauma, and following surgical intervention. Am J Phys Anthropol 119:224–230, 2002. © 2002 Wiley‐Liss, Inc.
Polymorphisms of CYP1a1, CYP2e1, GSTM1, GSTT1, and TP53 genes in Amerindians
Authors: Gaspar Pedro A. , Hutz Mara H. , Salzano Francisco M. , Hill Kim , Hurtado A. Magdalena , Petzl‐Erler M. Luiza , Tsuneto Luiza T. , Weimer Tania A. 
Published: October 2002

AbstractPolymorphisms at the TP53, cytochrome P‐450 (CYP), and glutathione S‐transferase (GST) genes are related to cancer susceptibility and present high diversity in allele frequencies among ethnic groups. This study concerns the CYP2E1, GSTM1, and GSTT1 polymorphisms in seven Amerindian populations (Xavante, Guarani, Aché, Wai Wai, Zoró, Surui, and Gavião). Polymorphic sites at CYP1A1 and TP53 were also studied in the Aché and Guarani tribes and compared with previous results about these systems already obtained in the other populations. The CYP2E1*5B haplotype showed, respectively, the highest and the lowest frequencies already observed in human groups. High frequencies of CYP1A1*2A and CYP1A1*2C alleles and mostly low values of GSTM1*0/*0 and GSTT1*0/*0 genotypes were observed. These data may be interpreted as being due to genetic drift or selection for these high‐frequency CYP1A1 alleles and against GST null genotypes during America's colonization. Intrapopulation diversity varied from 0.19 (Guarani) to 0.38 (Surui), and 90% of the total diversity was due to the variability within populations. The relationships between these Amerindians and with other ethnic groups were evaluated based on DA distances and the neighbor‐joining method. Low correlation was observed between genetic relationships and geographic distances or linguistic groups. In the TP53 comparison with other ethnic groups, Amerindians clustered together and then joined Chinese populations. The cluster analysis seems to indicate that the Aché tribe might descend from a Gê group that could have first colonized that Paraguayan region, but had also assimilated some amount of the Guarani gene pool, maybe through intertribal admixture. Am J Phys Anthropol 119:249–256, 2002. © 2002 Wiley‐Liss, Inc.
Aggregation of actin and cofilin in identical twins with juvenile‐onset dystonia
Authors: Gearing Marla , Juncos Jorge L. , Procaccio Vincent , Gutekunst Claire‐Anne , Marino‐Rodriguez Elaine M. , Gyure Kymberly A. , Ono Shoichiro , Santoianni Robert , Krawiecki Nicolas S. , Wallace Douglas C. , Wainer Bruce H. 
Published: October 2002

AbstractThe neuropathology of the primary dystonias is not well understood. We examined brains from identical twins with DYT1‐negative, dopa‐unresponsive dystonia. The twins exhibited mild developmental delays until age 12 years when they began developing rapidly progressive generalized dystonia. Genetic, metabolic, and imaging studies ruled out known causes of dystonia. Cognition was subnormal but stable until the last few years. Death occurred at ages 21 and 22 years. The brains were macroscopically unremarkable. Microscopic examination showed unusual glial fibrillary acidic protein–immunoreactive astrocytes in multiple regions and iron accumulation in pallidal and nigral neurons. However, the most striking findings were 1) eosinophilic, rod‐like cytoplasmic inclusions in neocortical and thalamic neurons that were actin depolymerizing factor/cofilin‐immunoreactive but only rarely actin‐positive; and 2) abundant eosinophilic spherical structures in the striatum that were strongly actin‐ and actin depolymerizing factor/cofilin‐positive. Electron microscopy suggested that these structures represent degenerating neurons and processes; the accumulating filaments had the same dimensions as actin microfilaments. To our knowledge, aggregation of actin has not been reported previously as the predominant feature in any neurodegenerative disease. Thus, our findings may shed light on a novel neuropathological change associated with dystonia that may represent a new degenerative mechanism involving actin, a ubiquitous constituent of the cytoskeletal system.
Phase structure in the blend of atactic poly(vinyl alcohol) with atactic poly(vinyl alcohol‐block‐vinyl acetate)
Authors: Tanigami Tetsuya , Maruyama Nobuyuki , Yamazaki Koji , Ichikawa Yoko , Nagai Hiroyuki , Shimizu Kaori 
Published: October 2002

AbstractAn almost fully saponified atactic poly(vinyl alcohol) and an atactic poly(vinyl alcohol‐block‐vinyl acetate) of which degree of saponification is 89 mol % were blended by a solution casting method. The phase structure of the blend film was analyzed by optical microscopy, 13C‐NMR, and differential scanning calorimetry. The most remarkable structure of the blend was composed of cylindrical domains penetrating the film. The swelling behavior of the blend films was also investigated in the dimethylsulfoxide and water mixed solvents to find differences in solubility and diffusion behavior between the matrix and the domain. The cylindrical domains could be selectively dissolved away in water and the film became porous. We tried to change the size of the cylindrical domain with various film preparation conditions. This aimed to turn the film into the useful filter membrane. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1807–1815, 2002
Biodegradable block copolymers with poly(ethylene oxide) and poly(glycolic acid‐valine) blocks
Authors: Feng Yakai , Klee Doris , Höcker Hartwig 
Published: October 2002

AbstractBiodegradable ABA triblock copolymers with poly(ethylene oxide) and poly(glycolic acid‐valine) blocks were synthesized via ring‐opening polymerization of cyclo(glycolic acid‐valine) using Ca‐alcoholates of hydroxytelechelic PEO as the initiator. The L‐valine residue racemized during copolymerization of cyclo(glycolic acid‐valine). The crystallization of the block copolymers decreases with decreasing PEO content in the triblock copolymers and with increasing length of the poly(glycolic acid‐valine) block. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2916–2919, 2002
Emulsifying and self‐emulsified properties of siloxane polymer grafted with easy hydrophile
Authors: Lee Chia‐Fen , Hsieh Pei‐Hsia , Ghosh Swapan K. , Kuo Ping‐Lin 
Published: October 2002

AbstractA series of siloxane polymers (SHE) with varying weight percents of simple nonionic hydrophilic groups have been synthesized and characterized by FTIR and 13C‐NMR. Emulsions have been made by self‐emulsification of those polymers in pure water and also by emulsifying silicone oil using those polymers as oil‐in‐water type emulsifiers. The stability of those emulsions have been examined apparently from the phase separation and also from the particle size increase on storage by Transmission Electron Microscopy (TEM) and photo microscopy. The results reviled that SHE 40, having 40 wt % grafted hydrophile, formed the most stable self‐emulsified emulsion, and SHE30 and SHE40 could be used as effective emulsifiers for silicone oil emulsification. The possible use of those emulsions as a defoamer for water‐borne systems has also been investigated by measuring the reduction of foam height of a strongly foamed aqueous solution of sodium lauryl sulfate (SLS). The defoaming ability decreases with the increase in hydrophile wt % in the polymer backbone; however, it increases with the emulsion (defoamer) concentrations. When compared with respect to the total wt % of hydrophobe contents in the emulsion defomer, the self‐emulsified emulsion has shown better defoaming than the silicone oil emulsion, and the results are well in accord with the difference in size of the respective emulsion particles. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2408–2415, 2002
Dynamic mechanical analysis of polyethylene and ethylene vinylacetate copolymer blends irradiated by electron beam
Authors: Sethi Meenu , Gupta Neeraj K. , Srivastava A. K. 
Published: October 2002

AbstractDynamic mechanical properties of nonirradiated and irradiated blends of polyethylene (PE) and ethylene vinylacetate (EVA) copolymer have been determined. Effect of addition of EVA and radiational crosslinking on loss and storage modulus, tan δ, and transition temperatures were determined. Increase in transition temperatures on exposure to radiation and decrease in transition temperatures with addition of EVA is observed. Peak broadening is observed on exposure to radiation. Values of the storage modulus increase while that of loss modulus and tan δ decrease on crosslinking. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2429–2434, 2002
Effect of structural features of poly(butylene terephthalate) tubes on the useful properties of the loose tube/optical fibers system in the tubular optical fiber cables
Authors: Ambroziak Mariusz , Gruin Irma , Zdunek Krzystzof , Wronikowski Marian 
Published: October 2002

AbstractTo verify a hypothesis that a relationship exists between the useful properties of the loose tube/optical fibers system and the structural features of poly(butylene terephthalate) (PBT) tubes, optical attenuation of optical fibers was studied both in the tubular optical fiber cable and in the tube proper. Examinations of the tube material structure was also performed by the DTA, SEM, and WAXD techniques. The results obtained allowed conclusion that during the standard industrial PBT tube extrusion process a finely dispersed crystalline α phase is formed in a quantity of ∼29%. The value is much less compared with the literature value of 66% (Yasuniwa et al., J Polym Sci B 1999, 37, 24201) reported for a possible maximal content of the crystalline phase in PBT. Accordingly, it was assumed that the quantity of the crystalline phase in the tubes can be made to increase by their heating at a temperature above the glass transition temperature (Tg) of PBT. Results of the study corroborate the soundness of the assumption that during the optical cable conditioning process over its working temperature range, i.e., from −40 to 70°C, crystallisation of PBT tubes is likely to occur to result in their shrinkage which, as proven, affects the optical fibers attenuation, which is a major useful property of optical cables. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2124–2129, 2002
Mass transfer dynamics of the evaporation step in membrane formation by phase inversion
Authors: Hao Ji Hua , Wang Shichang 
Published: October 2002

AbstractA ternary diffusion model has been developed for the evaporation step of the phase inversion process. The model is applied to the analysis of mass transfer dynamics of the evaporation step for the methanol–acetone–cellulose acetate (CA) ternary casting system. The combined analysis of quantitatively computational results from the ternary evaporation model and qualitative dynamic results during the quench process has shown that the evaporation step is essentially necessary to prepare the defect‐free, ultrathin skinned asymmetric CA membrane for the separation of CO2/CH4. The skin layer of high CA concentration obtained by evaporation has an ability to suppress liquid–liquid phase separation. And the skin layer with high tensile strength can resist the interfacial tension caused by spinodal decomposition from the substructure. Although the CA concentration in the skin layer increases considerably because of the evaporation step and the following delay time during the quench process, the substructure can still induce the spinodal decomposition because the strong coagulant, methanol, can diffuse rapidly across the ultrathin skin layer. Hence the defect‐free, ultrathin‐skinned asymmetric membrane for gas separation can be prepared from methanol–acetone–CA casting system by evaporation step and the wet phase inversion. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1564–1571, 2002
Thermoreversible hydrogel. XVII. Investigation of the drug release behavior for [N‐isopropylacrylamide‐co‐trimethyl acrylamidopropyl ammonium iodide‐co‐3‐dimethyl (methacryloyloxyethyl) ammonium propane sulfonate] copolymeric hydrogels
Authors: Lee Wen‐Fu , Chiu Ru‐Jen 
Published: October 2002

AbstractA series of copolymeric hydrogels were prepared from various molar ratios of N‐isopropylacrylamide (NIPAAm), trimethyl acrylamidopropyl ammonium iodide (TMAAI), and 3‐dimethyl (methacryloyloxyethyl) ammonium propane sulfonate (DMAPS). Results showed that the swelling ratios of these copolymeric hydrogels increased with an increase of TMAAI content. The drug release behavior of the ionic thermosensitive hydrogels related to their ionicity and drug types. Results indicated that the release ratio of caffeine in the hydrogels was not affected by the ionicity of hydrogels, but increased with increasing of the swelling ratio. The anionic solute (phenol red) strongly interacted with cationic hydrogel (very large Kd), so the phenol red release ratio in cationic gels was very low. On the other hand, CV was adsorbed only on the skin layer of the cationic hydrogel because of the charge repulsion, and released rapidly. Therefore the release ratio was highest for cationic hydrogel to cationic drug. In addition, the partition coefficients (Kd) and the drug delivery behavior of the present gels were also investigated. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1592–1598, 2002
Natural fiber composites of high‐temperature thermoplastic polymers: Effects of coupling agents
Authors: Jana Sadhan C. , Prieto Alberto 
Published: October 2002

AbstractOur earlier paper (Jana, S.C.; Prieto, A. J Appl Polym Sci 2002, 86, 2159) on the development of natural fiber composites of high‐performance thermoplastic polymers described a new methodology for the manufacturing of composite materials of a high‐temperature thermoplastic polymer, poly(phenylene ether) (PPE) and wood flour, a cellulosic natural filler. A thermosetting epoxy, used as a reactive solvent, reduced the processing temperature of PPE/epoxy blends to well below the decomposition temperature of natural fillers. In addition, the epoxy component, upon polymerization, formed coating layers around the filler particles to provide resistance against moisture diffusion and attacks by acids and alkali. This article describes the results of an investigation on two outstanding issues: (1) the influence of cellulosic wood particles and coupling agents on the speed of epoxy curing and reaction‐induced phase separation and (2) the effects of coupling agents on the morphology of crosslinked epoxy at the surfaces of natural fillers and mechanical properties of the composites. It was found that wood particles expedited epoxy curing in the composites; the extent of epoxy curing, however, was reduced in the presence of coupling agents. Also, the coupling agents promoted complete coverage of wood flour particles by polymerized epoxy, although the mechanical properties deteriorated over systems without coupling agents. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2168–2173, 2002
Syntheses of poly(methyl methacrylate)/poly(dimethyl siloxane) graft copolymers and their surface enrichment of their blend with acrylate adhesive copolymers
Authors: Lee Yongjun , Akiba Isamu , Akiyama Saburo 
Published: October 2002

AbstractSeveral types of poly(methyl methacrylate)/poly(dimethyl siloxane) graft copolymers (PMMA‐g‐PDMS) were synthesized using macromonomer technology. Three types of PMMA‐g‐PDMS with different PDMS chain length were obtained. The effect of siloxane chain length on surface segregation of PMMA‐g‐PDMS/poly(2‐ethylhexyl acrylate‐co‐acrylic acid‐co‐vinyl acetate)[P(2EHA‐AA‐VAc)] blends was investigated. The blends of PMMA‐g‐PDMS with P(2EHA‐AA‐VAc) showed surface segregations of PDMS components. The surface enrichments of PDMS in the blends depended on the PDMS chain length, significantly. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1736–1740, 2002
Spectral and electrochemical studies on blends of polyaniline and cellulose esters
Authors: Marques A. P. , Brett C. M. A. , Burrows H. D. , Monkman A. P. , Retimal B. 
Published: October 2002

AbstractBlends of chemically prepared polyaniline emeraldine base (PANi) with cellulose esters were studied as films by UV–visible spectroscopy and cyclic voltammetry. The cellulose esters used were acetate, propionate, acetate butyrate, and acetate hydrogen phthalate. Films were prepared by casting from N‐methylpyrrolidone or formic acid, and the effect of doping by acids on their spectral and electrochemical properties was studied. Similar behavior was observed with the acetate, propionate, or acetate butyrate, with spectral changes on adding acid due to protonation of the PANi. In agreement with previous studies, kinetic measurements on PANi in a cellulose acetate matrix shows a relatively slow spectral change on protonation. In contrast, with cellulose acetate hydrogen phthalate (CAHP), no changes were observed on adding acid, and it is suggested that the hydrogen phthalate group acts as proton donor. This was mirrored by the cyclic voltammetry behavior in hydrochloric acid solution. Electrochemical studies on films of PANi/CAHP blends in different relative proportions in sulfuric acid solution show a marked dependence on the solvent used for casting, with higher currents and better electrical conductivity being observed in films prepared from N‐methylpyrrolidone. This is shown to be due to the presence of PANi particles in the films. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2182–2188, 2002