Search results for "Phenotype"
showing 10 items of 1875 documents
Impact of
2018
Drosophila melanogaster has been for over a century the model of choice of several neurobiologists to decipher the formation and development of the nervous system as well as to mirror the pathophysiological conditions of many human neurodegenerative diseases. The rare disease Friedreich’s ataxia (FRDA) is not an exception. Since the isolation of the responsible gene more than two decades ago, the analysis of the fly orthologue has proven to be an excellent avenue to understand the development and progression of the disease, to unravel pivotal mechanisms underpinning the pathology and to identify genes and molecules that might well be either disease biomarkers or promising targets for therap…
Scientific Opinion on an application by Syngenta (EFSA-GMO-DE-2009-66) for placing on the market of herbicide tolerant and insect resistant maize Bt1…
2015
Question number: EFSA-Q-2009-00444 on request from Competent Authority of Germany; The EFSA GMO Panel previously assessed the four single events combined to produce a four-event stack maize Bt11 × MIR162 × MIR604 × GA21 and did not identify safety concerns. In this opinion, the EFSA GMO Panel assesses the four-event stack maize and all its subcombinations independently of their origin. No new data on the single events, leading to modification of the original conclusions on their safety, were identified. The molecular, agronomic, phenotypic and compositional data on the four-event stack maize did not give rise to safety concerns and there is no reason to expect interactions between the singl…
Sicilian semi- and supercentenarians: identification of age-related T cell immunophenotype to define longevity trait
2023
: The immunophenotype of oldest centenarians, i.e., semi- and supercentenarians, could provide important information about their ability to adapt to factors associated with immune changes, including ageing per se and chronic Cytomegalovirus infection. We investigated, by flow cytometry, variations in percentages and absolute numbers of immune cell subsets, focusing on T cells, and pro-inflammatory parameters in a cohort of 28 women and 26 men (age range 19-110 years). We observed variability in hallmarks of immunosenescence related to age and Cytomegalovirus serological status. The eight oldest centenarians showed the lowest percentages of naïve T cells, due to their age, and the highest pe…
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
1998
SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
Phenotypic and genetic analysis of udder health using SCC in Valle del Belice dairy sheep
2005
Intramammary infections (IMI) are a complex of inflammatory diseases which are defined as an inflammation of the mammary gland resulting from the introduction and multiplication of pathogenic micro-organisms.
FinnTwin16 : A Longitudinal Study from Age 16 of a Population-Based Finnish Twin Cohort
2019
The purpose of this review is to provide a detailed and updated description of the FinnTwin16 (FT16) study and its future directions. The Finnish Twin Cohort comprises three different cohorts: the Older Twin Cohort established in the 1970s and the FinnTwin12 and FT16 initiated in the 1990s. FT16 was initiated in 1991 to identify the genetic and environmental precursors of alcoholism, but later the scope of the project expanded to studying the determinants of various health-related behaviors and diseases in different stages of life. The main areas addressed are alcohol use and its consequences, smoking, physical activity, overall physical health, eating behaviors and eating disorders, weight…
The state of art of biological processes in paternal care
2014
This review of the state of art aimed to present the most recent data on neuronal, neurochemical, hormonal and genetic bases of paternal care using MEDLINE and PsycInfo databases (1970-2013). An integrated model of biological substrates that assist men in the transition to fatherhood is presented. Guided by a genetic background, hypothalamic-midbrain-limbic-paralimbic-cortical circuits were found to be activated in fathers when infant stimuli are presented. A set of specifi c neuropeptides and steroid hormones are produced and seem to be related to brain activation, potentiating the paternal phenotype. Together, genetic, brain and hormonal processes suggest the existence of biological bases…
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
2012
Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We des…
Editorial: Understanding Gamma Delta T Cell Multifunctionality - Towards Immunotherapeutic Applications.
2020
Introduction: gd T cells have been characterized by the expression of a gd T cell receptor (TCR).When the gd TCR and the corresponding ab TCR were first discovered it was assumed that the corresponding cell types were likely to be functionally very similar. However, some 30 years later, we have realized that they are not. Unlike ab T cells, gd T cells (i) sense target antigens independent of MHC molecules; (ii) display NK-cell like innate reactivities, including killing of infected cells as well as microbes; (iii) are able to take up large particulates, including bacteria, and (iv) can act as professional antigen presenting cells. The “stress sensing” abilities of gd T cells have led to a g…
Reciprocal influence of B cells and tumor macro and microenvironments in the ApcMin/+ model of colorectal cancer
2017
One of the most fascinating aspects of the immune system is its dynamism, meant as the ability to change and readapt according to the organism needs. Following an insult, we assist to the spontaneous organization of different immune cells which cooperate, locally and at distance, to build up an appropriate response. Throughout tumor progression, adaptations within the systemic tumor environment, or macroenvironment, result in the promotion of tumor growth, tumor invasion and metastasis to distal organs, but also to dramatic changes in the activity and composition of the immune system. In this work, we show the changes of the B-cell arm of the immune system following tumor progression in the…