Genetic issues are demanding more attention in the area of public health. Adoption agencies and policymakers are beginning to address these issues where they relate to the adoption process and to the many families involved in adoption in this country. Genetic counselors need to play an active role as both educators of and consultants for adoption professionals and the families with whom they work. To facilitate a partnership between genetics and adoption we have developed a workshop intended to educate adoption professionals about the lifelong implications of genetic conditions on the adoption triad.
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http://dx.doi.org/10.1007/BF00962919 | DOI Listing |
Biochemistry
January 2025
Department of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Sciences, University of Pretoria, Pretoria 0002, South Africa.
C-terminal amidation of antimicrobial peptides (AMPs) is a frequent minor modification used to improve antibacterial potency, commonly ascribed to increased positive charge, protection from proteases, and a stabilized secondary structure. Although the activity of AMPs is primarily associated with the ability to penetrate bacterial membranes, hitherto the effect of amidation on this interaction has not been understood in detail. Here, we show that amidation of the scorpion-derived membranolytic peptide AamAP1-Lys produces a potent analog with faster bactericidal activity, increased membrane permeabilization, and greater Gram-negative membrane penetration associated with greater conformational flexibility.
View Article and Find Full Text PDFBio Protoc
January 2025
Department of Cell Biology and Human Anatomy, University of California, Davis, School of Medicine, Davis, CA, USA.
Mouse embryonic fibroblasts (MEFs) derived from genetically modified mice are a valuable resource for studying gene function and regulation. The MEF system can also be combined with rescue studies to characterize the function of mutant genes/proteins, such as disease-causing variants. However, primary MEFs undergo senescence soon after isolation and passaging, making long-term genetic manipulations difficult.
View Article and Find Full Text PDFCJC Open
January 2025
Genetics and Genome Biology, Research Institute, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada.
Sudden cardiac death is a leading cause of mortality in children with hypertrophic cardiomyopathy (HCM). The PRecIsion Medicine in CardiomYopathy consortium developed a validated tool (PRIMaCY) for sudden cardiac death risk prediction to help with implantable cardioverter defibrillator shared decision-making, as recommended by clinical practice guidelines. The mplemeting a udden Cardiac Dath isk Assessment ool in hildhood (INSERT-HCM) study aims to implement PRIMaCY into electronic health records (EHRs) and assess implementation determinants and outcomes.
View Article and Find Full Text PDFHeliyon
January 2025
Genetics, Biotechnology and Seed Science Unit (GBioS), Laboratory of Crop Production, Physiology and Plant Breeding, Faculty of Agronomic Sciences, University of Abomey-Calavi, 01 BP 526 Tri Postal Cotonou, Benin.
Regularly consuming orange-fleshed sweet potatoes (OFSP) is widely recognised as an effective way to treat vitamin A deficiency (VAD), particularly in low-income countries. Unfortunately, cultivars of OFSP are poorly disseminated in most countries in sub-Saharan Africa, where VAD is a major cause of blindness. This study was conducted to evaluate the effect of the genotype-environment interaction (GEI) on the performance and stability of the yield components of OFSP cultivars to trigger their adoption by farmers.
View Article and Find Full Text PDFFront Genet
January 2025
Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Introduction: related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spectrum of overgrowth and vascular malformations affecting various body regions.
Methods: Conventional diagnostic methods struggle to detect and confirm pathogenic PIK3CA gene variants due to the mosaic nature of these disorders and the limited accessibility of affected tissues.
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