Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

\ua9 The Author(s) 2024.Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we have considerably expanded our MRLS cohort to a total of 18 probands (16 males and 2 females). Segregation analyses identified 36 additional BGN variant-harboring family members (9 males and 27 females). The identified BGN variants were shown to lead to loss-of-function by cDNA and Western Blot analyses of skin fibroblasts or were strongly predicted to lead to loss-of-function based on the nature of the variant. No (likely) pathogenic missense variants without additional (predicted) splice effects were identified. Interestingly, a male proband with a deletion spanning the coding sequence of BGN and the 5’ untranslated region of the downstream gene (ATP2B3) presented with a more severe skeletal phenotype. This may possibly be explained by expressional activation of the downstream ATPase ATP2B3 (normally repressed in skin fibroblasts) driven by the remnant BGN promotor. This study highlights that aneurysms and dissections in MRLS extend beyond the thoracic aorta, affecting the entire arterial tree, and cardiovascular symptoms may coincide with non-specific connective tissue features. Furthermore, the clinical presentation is more severe and penetrant in males compared to females. Extensive analysis at RNA, cDNA, and/or protein level is recommended to prove a loss-of-function effect before determining the pathogenicity of identified BGN missense and non-canonical splice variants. In conclusion, distinct mechanisms may underlie the wide phenotypic spectrum of MRLS patients carrying loss-of-function variants in BGN

Assessing the Effects of Responsible Leadership and Ethical Conflict on Behavioral Intention

[[abstract]]This study develops a research model that elaborates how responsible leadership and ethical conflict influence employees from the perspectives of role theory and attachment theory. Its empirical results reveal that turnover intention indirectly relates to ethical conflict and responsible leadership via the mediating mechanisms of organizational identification and organizational uncertainty. At the same time, helping intention indirectly relates to ethical conflict and responsible leadership only through organizational identification. Finally, the managerial implications for international business and research limitations based on the empirical results are discussed.[[notice]]補正完

When do leaders grant voice? How leaders' perceptions of followers' control and belongingness needs affect the enactment of fair procedures

Theories that explain employees' positive emotional, cognitive, and behavioral responses to fair procedures rely on control and relational processes. In the present study, we build on these models, but reverse this perspective to examine when leaders provide voice opportunities in their interactions with employees. We argued that leaders may take care of employees' perceived individual control needs (which influence their own outcomes) by granting them voice. However, this will be the case particularly when leaders perceive that this employee also wants to belong to the organization, because this makes it more likely that employees will use their voice in a way that does not hurt the organization's interest. Support for this predicted interaction effect was found in a laboratory experiment and a multisource field study. This research is among the first to identify factors that influence whether leaders will be more likely to act fairly, thus integrating procedural justice processes in the leadership literature

The Structure of Conscientiousness: An Empirical Investigation Based on Seven Major Personality Questionnaires

The purpose of this study was to identify the underlying structure of the trait domain of Conscientiousness using scales drawn from 7 major personality inventories. Thirty‐six scales conceptually related to Conscientiousness were administered to a large community sample (N= 737); analyses of those scales revealed a hierarchical structure with 6 factors: industriousness, order, self‐control, responsibility, traditionalism, and virtue. All 6 factors demonstrated excellent convergent validity. Three of the 6 factors, industriousness, order, and self‐control, showed good discriminant validity. The remaining 3 factors—responsibility, traditionalism and virtue—appear to be interstitial constructs located equally between Conscientiousness and the remaining Big Five dimensions. In addition, the 6 underlying factors had both differential predictive validity and provided incremental validity beyond the general factor of Conscientiousness when used to predict a variety of criterion variables, including work dedication, drug use, and health behaviors