Recurrent 2q13 deletion syndrome is associated with incompletely penetrant severe cardiac defects and craniofacial anomalies. We used an atypical, overlapping 1.34 Mb 2q13 deletion in a patient with pathogenically similar congenital heart defects (CHD) to narrow the putative critical region for CHD to 474 kb containing six genes. To determine which of these genes is responsible for severe cardiac and craniofacial defects noted in the patients with the deletions, we used zebrafish morpholino knockdown to test the function of each orthologue during zebrafish development. Morpholino-antisense-mediated depletion of fibulin-7B, a zebrafish orthologue of fibulin-7 (FBLN7), resulted in cardiac hypoplasia, deficient craniofacial cartilage deposition and impaired branchial arch development. TMEM87B depletion likewise resulted in cardiac hypoplasia but with preserved branchial arch development. Depletion of both fibulin-7B and TMEM87B resulted in more severe defects of cardiac development, suggesting that their concurrent loss may enhance the risk of a severe cardiac defect. We postulate that heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome.

Activation of the hypothalamic-pituitary-adrenal (HPA) axis occurs in response to the organism’s innate need for homeostasis. The glucocorticoids (GCs) that are released into the circulation upon acute activation of the HPA axis perform stress-adaptive functions and provide negative feedback to turn off the HPA axis, but can be detrimental when in excess. Long-term activation of the HPA axis (such as with chronic stress) enhances susceptibility to neuronal dysfunction and death, and increases vulnerability to Alzheimer’s disease (AD). However, little is known how components of the HPA axis, upstream of GCs, impact vulnerability to AD. This study examined basal gene expression of stress-related molecules in brains of 3xTg-AD mice during early-stage pathology. Basal glucocorticoid levels and mRNA expression of the glucocorticoid receptor (GR), mineralocorticoid receptor (MR), and corticotropic releasing hormone (CRH) in several stress- and emotionality-related brain regions were measured in 3–4-month-old 3xTg-AD mice. Despite normal glucocorticoid levels, young 3xTg-AD mice exhibit an activated central HPA axis, with altered mRNA levels of MR and GR in the hippocampus, GR and CRH in the paraventricular nucleus of the hypothalamus, GR and CRH in the central nucleus of the amygdala, and CRH in the bed nucleus of the stria terminalis. This HPA axis activation is present during early-stage neuropathology when 3xTg-AD mice show mild behavioral changes, suggesting an ongoing neuroendocrine regulation that precedes the onset of severe AD-like pathology and behavioral deficits.

1This paper is concerned with how immigration discourses normalise and regulate sexual citizens in the UK and the broader European migratory space. The chief focus of this paper is the Unmarried Partners Rule -the UK family reunion provision, which applies to same-sex couples. This policy will be explored through interviews conducted with same-sex migrant couples that highlight the heterosexist discourses embedded in the policy with its formulation of a 'marriage' model and its emphasis on 'evidence' of at least 2 years cohabitation. In addition, these same couples demonstrate how the possession of attractive skills to the state and financial dependency are an important element in achieving family reunion. The UK policy will be placed in the wider context of legal developments at the EU level. I will argue that the EU mirrors the UK in providing a conservative and narrow definition of the family, which is particularly problematic for sexual citizens making claims for partnership rights.Therefore, the aim is to provide new empirical data that illuminates current debates concerned with sexual citizenship and migration, in particular, critical work concerned with the conservative and normative effects of making claims for same-sex partnership rights.

The staining affinity of electron dense stains to mouse palatal elastic fibers and periodontal oxytalan fibers was assessed and compared. Tissues were stained routinely with uranyl acetate and lead citrate or with elastic tissue stains including: (1) silver tetraphenylporphine sulfonate, (2) tannic acid technique, and (3) a high iron diamine sequence. Staining results were assessed with an electron microscope. Palatal elastic fibers demonstrated staining affinity to all elastic stain techniques. Oxytalan fibers did not demonstrate affinity to elastic fiber stains used. Based on electron dense stains, elastic and oxytalan fibers were dissimilar, in contrast to results reported utilizing light microscopic stains.

Reactivity to environmental stressors influences vulnerability to neurological and psychiatric illnesses, but little is known about molecular mechanisms that control this reactivity. Since mice with forebrain-specific glucocorticoid receptor overexpression (GRov mice) display anxiety-like behaviors in novel environments and have difficulty adjusting to change in memory tasks, we hypothesized that these may be facets of a broader phenotype of altered reactivity to environmental demands. Male GRov and wild-type mice were tested in a multiple-trial object interaction test comprising environmental and object habituation and spatial and object novelty trials. Half the mice received restraint stress before testing. GRov mice exhibited more locomotor activity and, without stress, more object interaction than wild-type mice. Following acute stress, GRov mice no longer showed increased object exploration. While stress dampened responses to object novelty in both groups, GRov mice were particularly impaired in discrimination of spatial novelty post-stress. These data demonstrate that GRov leads to increased environmental reactivity, responsiveness to salience, and vulnerability to stress-induced cognitive deficits. They implicate forebrain GR in fine-tuning interactions with the environment and the interplay of emotional salience, coping abilities, and cognitive function.