Search results for "Phenotype"
showing 10 items of 1875 documents
Evolution and functional differentiation of recently diverged phytochelatin synthase genes from Arundo donax L.
2019
Plant phytochelatin synthases undergo evolutionarily rapid functional differentiation after duplication, allowing fast and precise adjustment of metal detoxification capacity by modulation of both transcription and enzymatic activity.
Functional antagonism between histone H3K4 demethylases in vivo
2011
Dynamic regulation of histone modifications is critical during development, and aberrant activity of chromatin-modifying enzymes has been associated with diseases such as cancer. Histone demethylases have been shown to play a key role in eukaryotic gene transcription; however, little is known about how their activities are coordinated in vivo to regulate specific biological processes. In Drosophila, two enzymes, dLsd1 (Drosophila ortholog of lysine-specific demethylase 1) and Lid (little imaginal discs), demethylate histone H3 at Lys 4 (H3K4), a residue whose methylation is associated with actively transcribed genes. Our studies show that compound mutation of Lid and dLsd1 results in increa…
Umbilical cord revisited: From Wharton's jelly myofibroblasts to mesenchymal stem cells
2013
The umbilical cord (UC) is an essential part of the placenta, contributing to foetal development by ensuring the blood flow between mother and foetus. The UC is formed within the first weeks of gestation by the enclosure of the vessels (one vein and two arteries) into a bulk of mucous connective tissue, named Wharton's jelly (WJ) and lined by the umbilical epithelium. Since their first identification, cells populating WJ were described as unusual fibroblasts (or myofibroblasts). Recent literature data further highlighted the functional interconnection between UC and the resident cells. The UC represents a reservoir of progenitor populations which are collectively grouped into MSCs (mesenchy…
Influenza della familiarità al diabete di tipo 2 sulle caratteristiche antropo-biometriche di giovani calciatori
2010
Phenotypic and Immunometabolic Aspects on Stem Cell Memory and Resident Memory CD8+ T Cells
2022
The immune system, smartly and surprisingly, saves the exposure of a particular pathogen in its memory and reacts to the pathogen very rapidly, preventing serious diseases.Immunologists have long been fascinated by understanding the ability to recall and respond faster and more vigorously to a pathogen, known as “memory”.T-cell populations can be better described by using more sophisticated techniques to define phenotype, transcriptional and epigenetic signatures and metabolic pathways (single-cell resolution), which uncovered the heterogeneity of the memory T-compartment. Phenotype, effector functions, maintenance, and metabolic pathways help identify these different subsets. Here, we exam…
Phenotypic Aspects of Longevity
2019
Centenarians are individuals who live over the average life span characteristic of their population. The growing number of old people worldwide makes it necessary to identify a good strategy to reach healthy ageing and avoid or delay age-related diseases. The longevity phenotype is the result of a positive combination between genetic, epigenetic, stochastic and lifestyle factors. So, the analysis of all the known parameters that can influence these single elements or their interaction can give new possible elements to delineate a sort of longevity signature. Starting from the easiest biomarkers as the haematochemical values and reaching the study of molecular and cellular components, as the…
How Important Are Genes to Achieve Longevity?
2022
Several studies on the genetics of longevity have been reviewed in this paper. The results show that, despite efforts and new technologies, only two genes, APOE and FOXO3A, involved in the protection of cardiovascular diseases, have been shown to be associated with longevity in nearly all studies. This happens because the genetic determinants of longevity are dynamic and depend on the environmental history of a given population. In fact, population-specific genes are thought to play a greater role in the attainment of longevity than those shared between different populations. Hence, it is not surprising that GWAS replicated associations of common variants with longevity have been few, if an…
Carbohydrate assimilation profiles of the first Italian Candida dubliniensis clinical isolates recovered from an HIV-infected individual.
2001
A total of six Candida dubliniensis isolates were obtained during 1 year of monitoring by monthly swabs from the oral cavity of an asymptomatic human immunodeficiency virus-infected individual in Catania, Italy. To the authors' knowledge, this constitutes the first recovery of C. dubliniensis from a human in Italy. Our identification procedure was based on colony color on CHROMagar Candida and carbohydrate assimilation profiles obtained by two commercial systems: API ID 32C and API 20C AUX. Karyotyping by pulsed-field gel electrophoresis confirmed the phenotypic identification. The biocodes obtained with API 20C AUX and with API ID 32C were 6172134 and 7142140015, respectively, for all six …
Consensus On Women'S Health Aspects Of Polycystic Ovary Syndrome (Pcos)
2012
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in females with a high prevalence. The etiology of this heterogeneous condition remains obscure and its phenotype expression varies. Two, widely cited, previous ESHRE/ASRM-sponsored PCOS consensus workshops focused on diagnosis (published in 2004) and infertility management (published in 2008). The present third PCOS consensus paper summarizes current knowledge and identifies knowledge gaps regarding various women's health aspects of PCOS. Relevant topics addressed-all dealt with in a systematic fashion-include adolescence, hirsutism and acne, contraception, menstrual cycle abnormalities, quality of life, ethnicity, preg…
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.
2011
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population. HBL are defined as primary or secondary according to the underlying causes. Primary monogenic HBL are caused by mutations in several known genes (APOB, PCSK9, MTP, SARA2) or mutations in genes not yet identified. Familial hypobetalipoproteinemia (FHBL) is the most frequent monogenic form of HBL with a dominant mode of inheritance. It may be due to loss-of-function mutations in APOB or, less frequently, in PCSK9 genes.…