22 research outputs found
The Bear Facts
Get PDFVol. 6, Issue 2, Nov. 1978https://openspace.dmacc.edu/banner_news/1015/thumbnail.jp
文献目録
Get PDFtextabstractHuman immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay
New genetic loci link adipose and insulin biology to body fat distribution.
Get PDFBody fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
Title: Towards a Constructor Kit for Visual Notations
No full textPersonal use of this material is permitted. However, permission to reprint/republish this material for advertising or promotional purposes or for creating new collective works for resale or redistribution to servers or lists, or to reuse any copyrighted component of this work in other works must be obtained from the IEEE. Towards a Constructor Kit for Visual Notations BuildByWire is a constraint-based environment for specifying and implementing visual notations for environments developed using the MViews framework. Previous approaches to user-interface construction based on constraint propagation approaches have been limited We describe a new approach that avoids some of these difficulties through the use of the multi-directional constraints of Snart, an object-oriented extension of Prolog. 1
