23 research outputs found

    Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease

    Get PDF
    Congenital heart disease (CHD) is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant–common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations

    Teachers’ Gender-Role Attitudes and Gendered Classroom Practices

    No full text
    This study used an online survey in the U.S. to examine Pre-K, 2nd, and 5th grade (N = 539) teachers’ (81% white; 94% female) gendered classroom practices (i.e., promotion of gender salience, gender segregation, gender integration) as well as the effects of gender-role attitudes on these practices. The promotion of gender salience entailed practices such as the use of gender labels and setting up competitions between boys and girls. The promotion of gender segregation entailed practices facilitating same-gender student interactions whereas the promotion of gender integration entailed practices facilitating mixed-gender interactions. Teachers reported making gender salient a few times a month, frequently promoting gender integration, and infrequently promoting gender segregation. Preschool teachers promoted gender salience and gender segregation less often than elementary school teachers. Teachers were more likely to assign students to mixed-sex groups than to same-sex groups for the following reasons: students need experience with other-sex (vs. same-sex) students; it is an efficient and easy way to group students; and, it cuts down on discipline problems. On average, teachers held egalitarian gender-role attitudes. Holding more traditional gender-role attitudes was positively associated with the promotion of gender salience and gender segregation; however, there was no relation between gender-role attitudes and the promotion of gender integration. These findings have implications for classroom practices and teacher professional development, and for the promotion of gender diverse experiences in the classroom

    Eukaryotic Assimilatory Nitrate Reductase Fractionates N and O Isotopes with a Ratio near Unity

    No full text
    In order to (i) establish the biological systematics necessary to interpret nitrogen (N) and oxygen (O) isotope ratios of nitrate (<sup>15</sup>N/<sup>14</sup>N and <sup>18</sup>O/<sup>16</sup>O) in the environment and (ii) investigate the potential for isotopes to elucidate the mechanism of a key N cycle enzyme, we measured the nitrate N and O isotope effects (<sup>15</sup>ε and <sup>18</sup>ε) for nitrate reduction by two assimilatory eukaryotic nitrate reductase (eukNR) enzymes. The <sup>15</sup>ε for purified extracts of NADPH eukNR from the fungus <i>Aspergillus niger</i> and the <sup>15</sup>ε for NADH eukNR from cell homogenates of the marine diatom <i>Thalassiosira weissflogii</i> were indistinguishable, yielding a mean <sup>15</sup>ε for the enzyme of 26.6 ± 0.2‰. Both forms of eukNR imparted near equivalent fractionation on N and O isotopes. The increase in <sup>18</sup>O/<sup>16</sup>O versus the increase in <sup>15</sup>N/<sup>14</sup>N (relative to their natural abundances) was 0.96 ± 0.01 for NADPH eukNR and 1.09 ± 0.03 for NADH eukNR. These results are the first reliable measurements of the coupled N and O isotope effects for any form of eukNR. They support the prevailing view that intracellular reduction by eukNR is the dominant step in isotope fractionation during nitrate assimilation and that it drives the <sup>18</sup>ε:<sup>15</sup>ε ≈ 1 observed in phytoplankton cultures, suggesting that this O-to-N isotope signature will apply broadly in the environment. Our measured <sup>15</sup>ε and <sup>18</sup>ε may represent the intrinsic isotope effects for eukNR-mediated N–O bond rupture, a potential constraint on the nature of the enzyme’s transition state

    Predictors of parent-professional alliance in home-based parenting support

    No full text
    A strong parent-professional alliance that increases over the course of care predicts positive outcomes of home-based parenting support. However, little is known about factors that influence the development or maintenance of the alliance in home-based parenting support, limiting professionals ability to optimize the parent-professional alliance and thereby the quality of care. Therefore, the present study examined whether voluntary versus mandated service involvement, previous involvement in similar services, parenting stress, child psychosocial problems, and care expectations were associated with early parent-professional alliance and predicted change in alliance during home-based parenting support services. Questionnaire data from 60 parents (M age?=?40.65?years, SD?=?6.81, range 23–55?years) and their professionals collected early and late in care were analyzed using structural equation modeling. Results indicated that previous involvement in similar services was related to lower levels of early parent-reported alliance, whereas positive care expectations were related to stronger early parent- and professional-reported alliances. Moreover, care expectations predicted change in professional-reported alliance during care, with positive parent expectations predicting a decrease and positive professional expectations predicting an increase in alliance. Voluntary versus mandated service involvement, parenting stress and child psychosocial problems were not found to influence the alliance. These findings emphasize the need for professionals to discuss previous service involvement and care expectations as well as a need for future studies to identify other factors that influence alliance and alliance-building skills

    Common variation in ISL1 confers genetic susceptibility for human congenital heart disease

    No full text
    Congenital heart disease (CHD) is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations
    corecore