Eskildsenbruun0803

We conclude that loss of RERE function contributes to the development of orofacial clefts in individuals with proximal 1p36 deletions and NEDBEH and that RERE expression in CNC cells and their derivatives is required for normal palatal development.Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disease that develops in some premutation (PM) carriers of the FMR1 gene with alleles bearing 55-200 CGG repeats. The discovery of a broad spectrum of clinical and cell developmental abnormalities among PM carriers with or without FXTAS and in model systems suggests that neurodegeneration seen in FXTAS could be the inevitable end-result of pathophysiological processes set during early development. Hence, it is imperative to trace early PM-induced pathological abnormalities. Previous studies have shown that transgenic Drosophila carrying PM-length CGG repeats are sufficient to cause neurodegeneration. Here, we used the same transgenic model to understand the effect of CGG repeats on the structure and function of the developing nervous system. We show that presynaptic expression of CGG repeats restricts synaptic growth, reduces the number of synaptic boutons, leads to aberrant presynaptic varicosities, and impairs synaptic transmission at the larval neuromuscular junctions. The postsynaptic analysis shows that both glutamate receptors and subsynaptic reticulum proteins were normal. However, a high percentage of boutons show a reduced density of Bruchpilot protein, a key component of presynaptic active zones required for vesicle release. The electrophysiological analysis shows a significant reduction in quantal content, a measure of total synaptic vesicles released per excitation potential. Together, these findings suggest that synapse perturbation caused by rCGG repeats mediates presynaptically during larval NMJ development. We also suggest that the stress-activated c-Jun N-terminal kinase protein Basket and CIDE-N protein Drep-2 positively mediate Bruchpilot active zone defects caused by rCGG repeats.Tipburn is an important physiological disorder of lettuce, Lactuca sativa L., related to calcium deficiency that can result in leaf necrosis and unmarketable crops. RKI-1447 The major quantitative trait locus, qTPB5.2, can account for up to 70% of the phenotypic variance for tipburn incidence in the field. This quantitative trait locus was genetically dissected to identify candidate genes for tipburn by creating lines with recombination events within the quantitative trait locus and assessing their resistance to tipburn. By comparing lines with contrasting haplotypes, the genetic region was narrowed down to ∼877 Kb that was associated with a reduction of tipburn by ∼60%. Analysis of the lettuce reference genome sequence revealed 12 genes in this region, one of which is a calcium transporter with a single nucleotide polymorphism in an exon between haplotypes with contrasting phenotypes. RNA-seq analysis of recombinants revealed two genes that were differentially expressed between contrasting haplotypes consistent with the tipburn phenotype. One encodes a Teosinte branched1/Cycloidea/Proliferating Cell factor transcription factor; however, differential expression of the calcium transporter was not detected. The phenotypic data indicated that there is a second region outside of the ∼877 Kb region but within the quantitative trait locus, at which a haplotype from the susceptible parent decreased tipburn by 10 to 20%. A recombinant line was identified with beneficial haplotypes in each region from both parents that showed greater tipburn resistance than the resistant parent; this line could be used as the foundation for breeding cultivars with more resistance than is currently available.

There are two alternative mechanisms, elucidating the reciprocal relationship between self-efficacy and social support when explaining health outcomes self-efficacy beliefs may operate as the establisher of social support (the cultivation model) or social support may enable the formation of self-efficacy beliefs (the enabling model).

In line with the cultivation hypothesis, it was tested if self-efficacy (measured in parents and children) would indirectly predict parental and child moderate-to-vigorous physical activity (MVPA), via the mediator, social support (parent-provided, child-received). In line with the enabling hypothesis, it was tested if social support would predict MVPA indirectly, via the mediator, self-efficacy.

A total of 879 parent-child dyads (1758 individuals; 52.4% girls, aged 5-11 years old, 83.2% mothers) provided self-reports at the baseline (T1) and the 7- to 8-month follow-up (T2). Body weight and height were measured objectively. Manifest path analyses were performed, controlling for the baseline levels of the mediator and dependent variables.

A similar number of significant simple indirect effects was found for the cultivation and the enabling model. Across the models, the indirect effects followed similar patterns (a) within-individual indirect effects in children; (b) across-individual indirect effects, with the independent variable measured in children and the mediator/dependent variables measured in parents (e.g., child self-efficacy predicted parental support provision and, indirectly, parental MVPA); (c) across-individual indirect effects, accounting for self-efficacy and MVPA measured in children, combined with parental reports of social support.

The findings provide support for both cultivation and enabling models in the context of MVPA among parent-child dyads.

The findings provide support for both cultivation and enabling models in the context of MVPA among parent-child dyads.Periodontitis is a common inflammatory disease characterized by a complex etiology, which is the result of a combination of genetic and environmental factors. Genetic variants linked to the periodontitis disease were already investigated, however, little was known regarding the severity of this disease. Recently, long runs of homozygosity (ROH) were associated with several multifactorial diseases. Therefore, in our work, we tried to assess the role of ROH and periodontitis status. We found an association between the excess of homozygosity owing to ROH and staging of periodontitis. More in detail, the total amount of homozygosity owing to ROH is positively associated with an increased severity of periodontitis (P = 0.0001). Regression tree analysis showed the impact of ROH burden in discriminating individuals with mild periodontitis stages I and II and periodontitis stages III and IV (P  1). Among them, we found a total of 33 genes. Interestingly, some of these genes were previously associated with granulocyte or platelet measures, both linked to the onset and the progression of periodontal disease.