Congenital heart diseases (CHD) occur in nearly 1% of all live births and are the major cause of infant mortality and morbidity. Although an improved understanding of the genetic causes of CHD would provide insight into the underlying pathobiology, the genetic etiology of most CHD remains unknown. Here we show that mutations in the gene encoding the transcription factor GATA6 cause CHD characteristic of a severe form of cardiac outflow tract (OFT) defect, namely persistent truncus arteriosus (PTA). Two different GATA6 mutations were identified by systematic genetic analysis using DNA from patients with PTA. Genes encoding the neurovascular guiding molecule semaphorin 3C (SEMA3C) and its receptor plexin A2 (PLXNA2) appear to be regulated directly by GATA6, and both GATA6 mutant proteins failed to transactivate these genes. Transgenic analysis further suggests that, in the developing heart, the expression of SEMA3C in the OFT/subpulmonary myocardium and PLXNA2 in the cardiac neural crest contributing to the OFT is dependent on GATA transcription factors. Together, our data implicate mutations in GATA6 as genetic causes of CHD involving OFT development, as a result of the disruption of the direct regulation of semaphorin-plexin signaling.congenital heart disease ͉ persistent truncus arteriosus ͉ cardiac neural crest C ongenital heart diseases (CHD) constitute a major percentage of clinically significant birth defects with an estimated prevalence of 4-10 per 1,000 live infants (1). Cardiac outflow tract (OFT) defects are estimated to account for approximately 30% of CHD (2) and usually require an intervention during the first year of life. A variety of OFT defects results from disturbance of the morphogenetic patterning of the anterior pole of the heart, which is essential for the establishment of separate systemic and pulmonary circulations in higher vertebrates. Persistent truncus arteriosus (PTA), which is attributed to missing septation of the OFT, is recognized as the most severe phenotype of OFT defect, and is often associated with an unfavorable prognosis because complete surgical repair is not always possible (3). Although an improved understanding of possible genetic causes would provide insight into the pathogenesis of CHD and allow for better assessment of disease risk, prenatal diagnosis, and critical information for disease prevention, the etiology of most CHD, including OFT defects, remains unknown because of the multifactorial nature of the diseases (4-6).Based on animal studies, it appears that abnormal development of cardiac neural crest (CNC) cells, an ectoderm-derived cell lineage, contributes significantly to the pathology of OFT defects (7-12). During early embryogenesis, CNC cells arise from the dorsal neural tube and migrate ventrally as mesenchymal cells to populate the OFT, where they coalesce to form the aorticopulmonary septum, which divides the single truncus arteriosus (embryonic OFT) into the aorta and pulmonary artery, resulting in the establishment of separate systemic and pulmonary c...
This paper explores how and the extent to which social capital has an effect on the damage resulting from natural disasters. It also examines whether the experience of a natural disaster affects individual and collective protection against future disasters.There are three major findings. (1) Social capital reduces the damage caused by natural disasters. (2) The risk of a natural disaster makes people more apt to cooperate and therefore social capital is more effective to prevent disasters. (3) Income is an important factor for reducing damage, but hardly influences it when the scale of a disaster is small.
COVID-19 has led to the closure of various schools in Japan to cope with the pandemic. This study explores how school closure influences parents’ work style based on short panel data for the period of school closure from mid-March to mid-April 2020. Specifically, we analyze how the presence of their children influences parents’ work at home and examine how the effect differs by the parent’s gender. After controlling for various factors, we find that in cases where parents are full-time employees and the children are: (1) in primary school, mothers are more likely to work remotely, while fathers are less likely to do so and (2) in junior high school, the parents’ work styles are hardly affected. This shows that mothers shoulder the burden of working remotely and caring for small children at home, while fathers tend to work in the office and spend less time with their childcare at home. Inevitably, COVID-19 has increased the inequality in the burden of child care.
The International Life Sciences Institute (ILSI) Health and Environmental Sciences Institute (HESI) Project Committee on the Relevance and Follow-up of Positive Results in In Vitro Genetic Toxicity (IVGT) Testing established an Emerging Technologies and New Strategies Workgroup to review the current State of the Art in genetic toxicology testing. The aim of the workgroup was to identify promising technologies that will improve genotoxicity testing and assessment of in vivo hazard and risk, and that have the potential to help meet the objectives of the IVGT. As part of this initiative, HESI convened a workshop in Washington, DC in May 2008 to discuss mature, maturing, and emerging technologies in genetic toxicology. This article collates the abstracts of the New and Emerging Technologies Workshop together with some additional technologies subsequently considered by the workgroup. Each abstract (available in the online version of the article) includes a section addressed specifically to the strengths, weaknesses, opportunities, and threats associated with the respective technology. Importantly, an overview of the technologies and an indication of how their use might be aligned with the objectives of IVGT are presented. In particular, consideration was given with regard to follow-up testing of positive results in the standard IVGT tests (i.e., Salmonella Ames test, chromosome aberration assay, and mouse lymphoma assay) to add weight of evidence and/or provide mechanism of action for improved genetic toxicity risk assessments in humans.
The seminal work of Gerschenkron (1962) stated that latecomers borrow advanced technology from their predecessors, resulting in convergence of productivity among nations. Additionally, the diffusion of technology among developing nations has been fulfilled not only directly from developed nations but also from surrounding nations through local spillovers such as learning from others. Recently, the disparity in national football performance among the nations appears to have improved, and it is evident that talented players are mobilized from developing nations to developed ones. The present article attempts to apply the framework of development economics, as introduced earlier, to the case of international football. An empirical examination of FIFA's world ranking points considered as reflecting nations' performances was conducted, applying panel data to control for unobserved nations' specific effects (Baltagi 2005). The results indicate that both technology transfer and the local information spillover play a crucial role in improving the performance of developing nations, but not of developed nations. The presented results are interpreted as implying that developing nations are able to catch up with developed ones due to the effects of technology transfer and local information spillover.
Standard-Nutzungsbedingungen:Die Dokumente auf EconStor dürfen zu eigenen wissenschaftlichen Zwecken und zum Privatgebrauch gespeichert und kopiert werden.Sie dürfen die Dokumente nicht für öffentliche oder kommerzielle Zwecke vervielfältigen, öffentlich ausstellen, öffentlich zugänglich machen, vertreiben oder anderweitig nutzen.Sofern die Verfasser die Dokumente unter Open-Content-Lizenzen (insbesondere CC-Lizenzen) zur Verfügung gestellt haben sollten, gelten abweichend von diesen Nutzungsbedingungen die in der dort genannten Lizenz gewährten Nutzungsrechte. Terms of use: Documents in AbstractThe Great Hanshin-Awaji (Kobe) earthquake struck Japan in 1995, causing devastating damage to the economic landscape of south-central Japan. The earthquake also caused people to realize the importance of social capital in Japan.Based on a large, individual-level database comprising 488,223 observations, this study investigated how, and the extent to which, the earthquake enhanced the investment in social capital through participation in community activity. The differences-in-differences method was used, and the following key findings were obtained: (1) In Japan, people were more likely to invest in social capital in 1996 than in 1991, (2) the effects of the earthquake decreased as the distance of one's place of residence increased from Kobe, and (3) the earthquake significantly increased the social capital investment rate of Kobe residents, whereas it had no significant influence on the investment rate of residents of large cities close to Kobe. JEL classification: N35, Q54, Z13
In speedboat racing in Japan, men and women compete under the same conditions and are randomly assigned to mixed-sex or single-sex groups for each race. We use a sample of over 140,000 individual-level records to examine how male-dominated circumstances affect women's racing performance. Our fixed-effects estimates reveal that women's race time is slower in mixed-sex than all-women races, whereas men's race time is faster in mixed-sex than men-only races. The same result is found for place in race. Moreover, in mixed-sex races, men are more aggressive, as proxied by lane changing, than women in spite of the risk of being penalized for rule infringement.
The spread of the novel coronavirus disease caused schools in Japan to close to cope with the pandemic. In response to the school closures, parents of students were obliged to care for their children during the daytime, when children usually were at school. Did the increase in the burden of childcare influence parents’ mental health? Based on short panel data from mid-March to mid-April 2020, we explore how school closures influenced the mental health of parents with school-aged children. Using a fixed-effects model, we find that school closures led to mothers of students suffering from worse mental health compared to other females, while the fathers’ mental health did not differ from that of other males. This tendency is only observed for less-educated mothers who had children attending primary school, not for those with children attending junior high school nor for more-educated mothers. The contribution of this paper is showing that school closures increased the inequality of mental health between genders and parents with different educational backgrounds.
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