11 research outputs found
Genetic Bottlenecks Resulting from Restoration Efforts: The Case of Bighorn Sheep in Badlands National Park
Morphological and molecular comparison of host-derived populations of parasitic <i>Psoroptes</i> mites
Morphological and molecular comparison of host-derived populations of parasitic Psoroptes mites
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was suggested as a candidate gene for autism spectrum disorder due to the enrichment of sequence variants in this gene in individuals with neurodevelopmental disorders. We report 14 individuals with various forms of neurodevelopmental conditions, found to have heterozygous, predominantly de novo, missense, and loss-of-function variants in PRPF8. These individuals have clinical features that may represent a new neurodevelopmental syndrome
Premenopausal and Postmenopausal Women Differ in their Cardiovascular and Neuroendocrine Responses to Behavioral Stressors
ABSTRACT
Middleâaged (45â51 years) women performed four tasks while their heart rate, blood pressure, and plasma catecholamines were measured. The tasks were serial subtraction, mirror image tracing, speech, and postural tilt. The speech task was considered to be particularly relevant to women because of its emphasis on social skills. Fifteen premenopausal women reported menstruating regularly and were tested in the early follicular phase. Sixteen postmenopausal women reported not menstruating for at least 12 months and their hormonal status was verified by serum levels of follicleâstimulating hormone. Results showed that postmenopausal women exhibited greater increases from baseline in heart rate during all tasks, relative to premenopausal women, with a particularly pronounced increase during the speech task. Postmenopausal women exhibited greater increases from baseline in systolic blood pressure and epinephrine, relative to premenopausal women, during the speech task only. Explanations for the stressorâspecific effect of menopausal status were discussed. The results suggest that reproductive hormones may interact with stressor characteristics to determine middleâaged women's physiological responses to stress