bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic screening for reproductive purposes at school: Is it a good strategy?
Authors: Frumkin Ayala , Zlotogora Joël 
Published: December 2007

AbstractThalassemia and Tay‐Sachs disease were the first diseases in which the criteria for heterozygote genetic screening were met and successful programs for reproductive purposes were initiated in populations at risk. However, many of the couples first discover the possibility of genetic screening during pregnancy and efforts are made to bring couples to consider screening tests before the first pregnancy. In this context, high school offers a convenient setting and several pilot programs have been very successful. All evaluations of these programs found that education plays a critical role in allowing informed decisions and minimizing the possible harms. While it has been suggested that high school may be the best setting for reproductive screening programs, guidelines of several societies of human genetics recommend the use of carrier screening only in individuals older than 18 years. There are several other problems related to genetic screening programs at school and some are discussed in the review. Our opinion is that school should be a place to provide the tools for decisions by education only; while the option to have the genetic tests later in life or in another setting should be offered to the students as part of the education session. This may allow the students to decide when and where to have a genetic test. © 2007 Wiley‐Liss, Inc.
Noonan syndrome: Psychological and psychiatric aspects
Authors: Verhoeven Willem , Wingbermühle Ellen , Egger Jos , Van der Burgt Ineke , Tuinier Siegfried 
Published: December 2007

AbstractAlthough Noonan syndrome (NS) is a disorder with a relatively high prevalence, virtually no information in adult patients is available about the psychological and psychopathological profile. In the present clinical report the first series of 10 NS patients from an ongoing project is presented. The purpose of the study is to investigate the psychopathology, social cognition and adaptation as well as the quality of life in NS patients aged 16 years or more. PTPN11 mutations were present in six patients and KRAS and SOS1 in one patient, respectively. In two patients no known mutation was found. The results demonstrate a variable level of intelligence and suggest moderately impaired social cognition in terms of emotion recognition and alexithymia. In some patients mild signs of anxiety and lowered mood are found that, however, do not meet the criteria for a specific psychiatric disorder. It is concluded that NS in adults is associated with a behavioral phenotype in which deficiencies in social and emotional recognition and expression may be key elements. © 2007 Wiley‐Liss, Inc.
Heritability of obsessive‐compulsive symptom dimensions
Authors: van Grootheest Daniël S. , Boomsma Dorret I. , Hettema John M. , Kendler Kenneth S. 
Published: December 2007

AbstractRecent research has shown that obsessive‐compulsive symptoms (OCS) differ remarkably among patients and can be divided into several symptom dimensions. OCS are influenced by genetic components, but it is unknown to what extent these symptom dimensions are heritable. The phenotypic heterogeneity also raises the question to what extent the symptom dimensions are influenced by specific or shared genetic factors. We studied a population sample of 1,383 female twins from the Virginia Twin Registry. OCS was measured by a questionnaire with 20 items from the Padua Inventory. After factor analysis, three reliable OC symptom dimensions were retained: Rumination, Contamination, and Checking. These OC dimensions were analyzed with multivariate genetic models to investigate both the overlap and uniqueness of genetic and environmental contributions underlying OC symptom dimensions. The multivariate common pathway model provided the best description of the data. All symptom dimensions share variation with a latent common factor, that is, OC behavior. Variation in this common factor was explained by both genes (36%) and environmental factors (64%). Only the Contamination dimension was influenced by specific genes and seemed to be a relatively independent dimension. The results suggest that a broad OC behavioral phenotype exists, influenced by both genes and nonshared environment. In addition, we found evidence for specific genetic and environmental factors underlying the Contamination dimension. Use of the Contamination dimension could therefore provide a powerful approach for the detection of genetic susceptibility loci that contribute to OCS. © 2007 Wiley‐Liss, Inc.
The −1021 C/T DBH polymorphism is associated with neuropsychological performance among children and adolescents with ADHD
Authors: Kieling Christian , Genro Júlia P. , Hutz Mara H. , Rohde Luis Augusto 
Published: December 2007

AbstractCatecholaminergic imbalance has increasingly been implicated in the pathophysiology of attention‐deficit/hyperactivity disorder (ADHD). The enzyme dopamine‐β‐hydroxylase (DβH)—critical to catecholaminergic regulation—is under strong genetic control, with the −1021 C/T polymorphism accounting for up to 50% of the enzymatic activity. This work aimed to investigate association between this functional polymorphism and the performance of children and adolescents with ADHD in neuropsychological measures of executive function (EF). Sixty‐four drug‐naïve patients with ADHD undertook a Continuous Performance Test and the Wisconsin Card Sorting Test. By means of a factorial analysis, a composite measure of EF was extracted. Performance according to genotypic group was analyzed, including age as a confounder. In addition, a family‐based association test was conducted as a confirmatory analysis. Principal components analysis of neuropsychological measures loaded two factors that explained 83.8% of total variance. Cognitive performance, as measured by the composite score, showed significant difference between genotypic groups after adjustment for age (P = 0.002). The CC homozygosity was associated with a diminished global EF performance, a result that was corroborated by the intra‐familial analysis. The present study demonstrated an association between the neuropsychological performance of children with ADHD and a functional polymorphism in the promoter region of the DBH gene. The refinement of the ADHD phenotype by means of composite measures of EF can contribute to uncover the molecular underpinnings of ADHD. © 2007 Wiley‐Liss, Inc.
Evidence for association between genetic variants of p75 neurotrophin receptor (p75NTR) gene and antidepressant treatment response in chinese major depressive disorder
Authors: Gau Yung‐Tian A. , Liou Ying‐Jay , Yu Younger W.‐Y. , Chen Tai‐Jui , Lin Ming‐Wei , Tsai Shih‐Jen , Hong Chen‐Jee 
Published: December 2007

AbstractThe p75 neurotrophin receptor (p75NTR) is an essential component of neurotrophin system, and has been implicated in the pathogenesis of major depressive disorder (MDD) and in the mechanism of antidepressant action. This study aimed to delineate the association between phenotype (MDD susceptibility and antidepressant response) and genotype (p75NTR common genetic variants) in a Chinese population. A total of 228 MDD patients and 402 unrelated controls were recruited. Subjects took selective serotonin reuptake inhibitors (SSRIs) and responders were defined as those with at least a 50% decrease in score of the Hamilton Rating Scale for Depression (HAM‐D) from baseline. Five p75NTR polymorphisms were genotyped and their association with MDD or treatment response was assessed by haplotype and single marker analysis. No significant association with MDD was discovered in single locus or haplotype analyses. With regard to the therapeutic outcome, however, one missense polymorphism (S250L) showed association in both genotype distribution (P = 0.039) and allele frequency (P = 0.012). Haplotype analysis also revealed that p75NTR TCT carriers had a more unfavorable response to therapy (P = 0.010). Our exploratory study has demonstrated the association between p75NTR and SSRI response for the first time, which may assist in individualized therapy for MDD patients in the future. © 2007 Wiley‐Liss, Inc.
No association of genetic variants of liver X receptor‐β with alzheimer's disease risk
Authors: Rodríguez‐Rodríguez Eloy , Llorca Javier , Mateo Ignacio , Infante Jon , Sánchez‐Quintana Coro , García‐Gorostiaga Inés , Fernández‐Viadero Carlos , Peña Nicolás , Berciano José , Combarros Onofre 
Published: December 2007

AbstractApolipoprotein E (APOE) ε4 allele is the strongest hitherto known risk factor for sporadic Alzheimer's disease (AD). Liver X receptor‐β (LXRβ) is a transcription factor that controls expression of genes involved in brain cholesterol metabolism, and one of the main LXRβ targets is APOE. To evaluate the relationship between LXRβ genetic variants and AD, independently or in concert with the APOE ε4 allele, we examined three LXRβ polymorphisms located in introns 2 (rs 2695121), 5 (rs 1052533), and 7 (rs 1405655), in 414 Spanish AD patients and 447 controls. The current study does not demonstrate an association between LXRβ genotypes or haplotypes and AD, neither in the total sample nor when the populations were stratified for the presence or absence of the APOE ε4 allele. © 2007 Wiley‐Liss, Inc.
Hand preference during unimanual and bimanual reaching actions in Sichuan snub‐nosed monkeys (Rhinopithecus roxellana)
Authors: Zhao Da‐Peng , Ji Wei‐Hong , Watanabe Kunio , Li Bao‐Guo 
Published: December 2007

AbstractHand preferences were investigated during one unimanual action (food‐reaching) and one bimanual action (mount‐reaching) in a semi‐free‐ranging group of Sichuan snub‐nosed monkeys (Rhinopithecus roxellana) in Zhouzhi National Nature Reserve, Qinling Mountains of China. Nine of 14 individuals tested on the unimanual food‐reaching action and all six individuals tested on the bimanual mount‐reaching action exhibited a manual preference. Both significant right‐ and left‐handed preferences were observed in the two actions. Sex did not affect either direction or strength of hand preference in the unimanual action. Hand preference for the bimanual action was stable over time, and the strength of hand preference was significantly stronger in the bimanual action than in the unimanual action. Am. J. Primatol. 70:500–504, 2008. © 2007 Wiley‐Liss, Inc.
Supramolecular Assemblies Based on Organometallic Quinonoid Linkers: A New Class of Coordination Networks
Authors: Moussa Jamal , Amouri Hani 
Published: December 2007

AbstractSelf‐assembly of coordination frameworks exhibiting original architectures is an active area of research. Generally, such assemblies are constructed from organic spacers and transition metals of different geometrical structures. Herein, we report a novel class of supramolecular coordination assemblies with organometallic linkers based on metalated quinonoid and thioquinonoid complexes that serve as spacers. The organometallic ligands are stable and have the general formula [Cp*M(η4‐benzoquinone)] (o‐ and p‐benzoquinone, Cp*=C5Me5, M=Rh, Ir) and [Cp*Ir(η4‐thiobenzoquinone)] (o‐ and p‐thiobenzoquinone). These units bind through both oxygen or sulfur atoms to metal ions of different coordination geometry, such as CuI, AgI, and PtII, to generate supramolecular coordination networks, with the metalated quinonoid or thioquinonoid linkers acting as backbones and the metal centers as nodes. This novel family of supramolecular assemblies exhibits short π–π and M⋅⋅⋅M interactions. These results illustrate successfully the role of the organometallic linkers to produce an impressive range of novel supramolecular architectures that hold promise for the development of functional materials.
Towards the Optimal Screening Collection: A Synthesis Strategy
Authors: Nielsen Thomas E. , Schreiber Stuart L. 
Published: December 2007

AbstractThe development of effective small‐molecule probes and drugs entails at least three stages: 1) a discovery phase, often requiring the synthesis and screening of candidate compounds, 2) an optimization phase, requiring the synthesis and analysis of structural variants, 3) and a manufacturing phase, requiring the efficient, large‐scale synthesis of the optimized probe or drug. Specialized project groups tend to undertake the individual activities without prior coordination; for example, contracted (outsourced) chemists may perform the first activity while in‐house medicinal and process chemists perform the second and third development stages, respectively. The coordinated planning of these activities in advance of the first small‐molecule screen tends not to be undertaken, and each project group can encounter a bottleneck that could, in principle, have been avoided with advance planning. Therefore, a challenge for synthetic chemistry is to develop a new kind of chemistry that yields a screening collection comprising small molecules that increase the probability of success in all three phases. Although this transformative chemistry remains elusive, progress is being made. Herein, we review a newly emerging strategy in diversity‐oriented small‐molecule synthesis that may have the potential to achieve these challenging goals.
Low‐temperature curing of water‐dispersible cationic diisocyanates for cathodic electrodeposition coatings
Authors: Wang Tao , Qi Shengguang , Ren Biye , Tong Zhen 
Published: December 2007

AbstractWater‐dispersible cationically modified diisocyanates TIb and TId blocked by n‐butanol (BAO) and 3,5‐dimethylpyrazole (DMP) for cathode electrodepositing (CED) coating curing were synthesized by introducing cationic triethanolamine (TEOA) into isophorone diisocyanate (IPDI). The crosslinkers TIb and TId were characterized with FTIR, gel permeation chromatography, dynamic light scattering for size distribution, differential scanning calorimeter, and thermogravimetry techniques. The emulsion for CED coating made of TIb or TId and cationic acrylic copolymer showed a high stability with narrow particle diameter distribution because of the ionization of the crosslinker. TG and DSC indicated that the deblocking and crosslinking temperatures of TId and TId containing CED film were always lower than the corresponding temperatures of the TIb and TIb containing CED film. With 0.5 wt % of catalyst dibutyltin dilaurate (DBTL) in TId‐CED emulsion and cured at 140°C for 40 min, 90% of the gel content in the TId‐CED film was realized. Hence, TId can meet the requirement of low‐temperature curing for the CED coating. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Hochwasserschutzdeiche – aktuelle Entwicklungen zur Verbesserung der Hochwassersicherheit
Authors: Bieberstein Andreas , Zesch Rainer , Riegger Tobias , Saucke Ulrich , Scheuermann Alexander , Triantafyllidis Theodor 
Published: December 2007

AbstractZum Schutz des Hinterlandes gegen Überflutung bei Hochwasser wurden über Jahrhunderte Deiche entlang von Fließgewässern errichtet, die auch heute noch über weite Strecken im Bestand erhalten sind. Da ein maßgebender Anteil dieser Altdeichstrecken in Deutschland den zwischenzeitlich vorliegenden Erkenntnissen und den Anforderungen der Regelwerke nicht entspricht, sind diese insbesondere bei Hochwasserereignissen mit geringer Auftretenswahrscheinlichkeit bzw. lang anhaltendem Einstau häufig nicht in der Lage, den resultierenden Belastungen schadensfrei zu widerstehen. Somit ergeben sich in Hinsicht auf die Sicherstellung des erforderlichen Hochwasserschutzes bzw. der Hochwassersicherheit aus geotechnischer bzw. geohydraulischer Sicht zahlreiche Fragestellungen, die gegenwärtig am Institut für Bodenmechanik und Felsmechanik der Universität Karlsruhe (TH) im Rahmen verschiedener (Verbund‐)Forschungsvorhaben bearbeitet werden. In diesem Beitrag werden verschiedene aktuelle Entwicklungsvorhaben vorgestellt und erläutert, die mit dem Ziel der Bewertung, der Prognose und der Verbesserung der Standsicherheit von Altdeichen durchgeführt werden.
Ein Approximationsverfahren zur rechnerischen Bestimmung des Hydroabrasionsverschleißes an überströmten Betonoberflächen
Authors: Helbig Ulf , Horlacher Hans‐B. 
Published: December 2007

AbstractEine Berechnung des Oberflächenabriebs an angeströmten Betonoberflächen im Wasserbau wird bisher in der Regel nicht vorgenommen. Dabei ist bekannt, dass an Bauwerken des konstruktiven Wasserbaus oder auch des Siedlungswasserbaus regelmäßig Schäden durch Oberflächenverschleiß beobachtet und dokumentiert werden. Das im Folgenden beschriebene Verfahren erlaubt auf der Basis der von Bania [1] gefundenen Zusammenhänge eine Abschätzung der Oberflächenabtrags von neuem Beton in Abhängigkeit der vorhandenen Druckfestigkeit sowie der Abrasionsbeanspruchungszeit und der einwirkenden kinetischen Energie, denen die Betonoberfläche ausgesetzt ist. Hierbei spielen sowohl der Anströmwinkel auf die Betonoberfläche als auch die auftretenden Fließgeschwindigkeiten und der damit einhergehende Feststofftransport in natürlichen Gewässern eine maßgebliche Rolle.
Neue Regelungen für den Grund‐ und Tunnelbau im Bundesfernstraßenbereich – Teil I: Grundbau
Authors: Friebel Wolf‐Dieter , Heimbecher Frank , Blosfeld Jürgen 
Published: December 2007

AbstractDie technische Weiterentwicklung der Bauverfahren sowie die Herausgabe neuer nationaler und internationaler Normen und Regelwerke erforderten eine umfassende Überarbeitung der vorhandenen Regelungen des Bundesfernstraßenbereiches für den Grund‐ und Tunnelbau. In dieser Ausgabe werden die überarbeiteten Zusätzlichen Technischen Vertragsbedingungen und Richtlinien für den Grundbau, die ZTV‐ING Teil 2, vorgestellt. In der nächsten Ausgabe folgen die überarbeiteten Regelungen für den Tunnelbau.
A shifting paradigm: histone deacetylases and transcriptional activation
Authors: Smith Catharine L. 
Published: December 2007

AbstractTranscriptional repression and silencing have been strongly associated with hypoacetylation of histones. Accordingly, histone deacetylases, which remove acetyl groups from histones, have been shown to participate in mechanisms of transcriptional repression. Therefore, current models of the role of acetylation in transcriptional regulation focus on the acetylation status of histones and designate histone acetyltransferases, which add acetyl groups to histones, as transcriptional coactivators and histone deacetylases as corepressors. In recent years, an accumulation of studies have shown that these enzymes also target non‐histone proteins and that histone deacetylases have clear roles as coactivators at a variety of genes, some of which are key regulators of cell growth and survival. This review summarizes the evidence for histone deacetylases as coactivators and provides models of coactivation mechanisms, some of which integrate roles of acetylated histones and non‐histone proteins in transcription. BioEssays 30:15–24, 2008. © 2007 Wiley Periodicals, Inc.
Drosophila telomeres: an exception providing new insights
Authors: Mason James M. , Frydrychova Radmila Capkova , Biessmann Harald 
Published: December 2007

AbstractDrosophila telomeres comprise DNA sequences that differ dramatically from those of other eukaryotes. Telomere functions, however, are similar to those found in telomerase‐based telomeres, even though the underlying mechanisms may differ. Drosophila telomeres use arrays of retrotransposons to maintain chromosome length, while nearly all other eukaryotes rely on telomerase‐generated short repeats. Regardless of the DNA sequence, several end‐binding proteins are evolutionarily conserved. Away from the end, the Drosophila telomeric and subtelomeric DNA sequences are complexed with unique combinations of proteins that also modulate chromatin structure elsewhere in the genome. Maintaining and regulating the transcriptional activity of the telomeric retrotransposons in Drosophila requires specific chromatin structures and, while telomeric silencing spreads from the terminal repeats in yeast, the source of telomeric silencing in Drosophila is the subterminal arrays. However, the subterminal arrays in both species may be involved in telomere–telomere associations and/or communication. BioEssays 30:25–37, 2008. © 2007 Wiley Periodicals, Inc.
Conformational flexibility of a model protein upon immobilization on self‐assembled monolayers
Authors: Bigdeli Saharnaz , Talasaz AmirAli H. , Ståhl Patrik , Persson Henrik H.J. , Ronaghi Mostafa , Davis Ronald W. , Nemat‐Gorgani Mohsen 
Published: December 2007

AbstractThe present study reports on the retention of conformational flexibility of a model allosteric protein upon immobilization on self‐assembled monolayers (SAMs) on gold. Organothiolated SAMs of different compositions were utilized for adsorptive and covalent attachment of bovine liver glutamate dehydrogenase (GDH), a well‐characterized allosteric enzyme. Sensitive fluorimetric assays were developed to determine immobilization capacity, specific activity, and allosteric properties of the immobilized preparations as well as the potential for repeated use and continuous catalytic transformations. The allosteric response of the free and immobilized forms towards ADP, L‐leucine and high concentrations of NAD+, some of the well‐known activators for this enzyme, were determined and compared. The enzyme immobilized by adsorption or chemical binding responded similarly to the activators with a greater degree of activation, as compared to the free form. Also loss of activity involving the two immobilization procedures were similar, suggesting that residues essential for catalytic activity or allosteric properties of GDH remained unchanged in the course of chemical modification. A recently established method was used to predict GDH orientation upon immobilization, which was found to explain some of the experimental results presented. The general significance of these observations in connection with retention of native properties of protein structures upon immobilization on SAMs is discussed. Biotechnol. Bioeng. 2008;100: 19–27. © 2007 Wiley Periodicals, Inc.
Effect of solution pH on protein transmission and membrane capacity during virus filtration
Authors: Bakhshayeshi Meisam , Zydney Andrew L. 
Published: December 2007

AbstractAlthough virus filtration is now an integral part of the overall viral clearance strategy for the purification of many commercial therapeutic proteins, there is currently little understanding of the factors controlling the performance of the virus filters. The objective of this study was to examine the effects of solution pH on protein transmission and capacity during virus filtration. Data were obtained using bovine serum albumin as a model protein with Viresolve 180 membranes oriented with both the skin‐side up and skin‐side down. Membranes were also characterized using dextran sieving measurements both before and after protein filtration. Membrane capacity and protein yield were minimal at the protein isoelectric point, which was due to the greater degree of concentration polarization associated with the smaller protein diffusion coefficient at this pH. In contrast, the actual protein sieving coefficient was maximum at the protein isoelectric point due to the absence of any strong electrostatic exclusion under these conditions. The yield and capacity were both significantly greater when the membrane was oriented with the skin‐side down. These results provide important insights into the effects of solution conditions on the performance of virus filtration membranes for protein purification. Biotechnol. Bioeng. 2008;100: 108–117. © 2007 Wiley Periodicals, Inc.