13 research outputs found
At the bottom of the differential diagnosis list: unusual causes of pediatric hypertension
Hypertension affects 1–5% of children and adolescents, and the incidence has been increasing in association with obesity. However, secondary causes of hypertension such as renal parenchymal diseases, congenital abnormalities and renovascular disorders still remain the leading cause of pediatric hypertension, particularly in children under 12 years old. Other less common causes of hypertension in children and adolescents, including immobilization, burns, illicit and prescription drugs, dietary supplements, genetic disorders, and tumors will be addressed in this review
Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease
One of the long-term goals of mutagenesis programs in the mouse has been to generate mutant lines to facilitate the functional study of every mammalian gene. With a combination of complementary genetic approaches and advances in technology, this aim is slowly becoming a reality. One of the most important features of this strategy is the ability to identify and compare a number of mutations in the same gene, an allelic series. With the advent of gene-driven screening of mutant archives, the search for a specific series of interest is now a practical option. This review focuses on the analysis of multiple mutations from chemical mutagenesis projects in a wide variety of genes and the valuable functional information that has been obtained from these studies. Although gene knockouts and transgenics will continue to be an important resource to ascertain gene function, with a significant proportion of human diseases caused by point mutations, identifying an allelic series is becoming an equally efficient route to generating clinically relevant and functionally important mouse models
Predicting Surgery Targets in Temporal Lobe Epilepsy through Structural Connectome Based Simulations
Global Distribution and Ecology of Hyperaccumulator Plants
International audienceA large body of analytical data is available on the inorganic composition of many thousands of plant species, for which typical concentration ranges have been tabulated for major, minor, and trace elements. These elements include those that have been shown essential for plant growth, as well as others that lack this status, at least universally. Metalliferous soils, having abnormally high concentrations of some of the elements that are generally present only at minor (e.g. 200–2000 μg g−1) or trace (e.g. 0.1–200 μg g−1) levels, have attracted increasing attention during the last 50 years. The effects vary widely, depending on the species, the relevant elements, and soil characteristics that collectively influence the availability of metals to plants. Some of these soils are toxic to all or most higher plants. Others have hosted the development of specialized plant communities consisting of a restricted and locally characteristic range of metal-tolerant species. These typically show a slightly elevated concentration of the elements with which the soil is enriched, but in places a species may exhibit extreme accumulation of one or more of these elements, to a concentration level that can be hundreds or even thousands of times greater than that usually found in plants on the most common soils. These plants, now widely referred to as hyperaccumulators, are a remarkable resource for many types of fundamental scientific investigation (plant systematics, ecophysiology, biochemistry, genetics and molecular biology) and for applications such as phytoremediation and agromining. Systematic analysis of herbarium specimens by X-ray Fluorescence, combined with auxiliary collection data, can provide insights into phylogenetic patterns of hyperaccumulation, and has the potential to complement and add insights to biogeographical and phylogenetic studies