Search results for "connective tissue disease"
showing 10 items of 874 documents
Analysis ofBRCA1andBRCA2genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effec…
2003
We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germ-line mutations in the BRCA1 and BRCA2 genes, using SSCP, PTT, CSGE, DGGE, and direct sequencing. We identified 60 mutations in BRCA1 and 53 in BRCA2. Of the 53 distinct mutations observed, 11 are novel and 12 have been reported only in Spanish families (41.5%). The prevalence of mutations in this set of families was 26.3%, but the percentage was higher in the families with breast and ovarian cancer (52.1%). The lowest proportion of mutations was found in the site-specific female breast cancer families (15.4%). Of the families with male breast cancer cases, …
Changes in chromosomal polymorphism when selecting for a neutral trait inDrosophila subobscura
1986
The changes which occurred in the chromosomal polymorphism ofDrosophila subobscura when selecting for abdominal bristle number were analysed. A decrease in the diversity of arrangements and an increase in homozygosity over the selection experiment were found. These changes were stronger in selection than in control lines.
Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population
1999
The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sout…
Hypoxia and Human Genome Stability: Downregulation of BRCA2 Expression in Breast Cancer Cell Lines
2013
Previously, it has been reported that hypoxia causes increased mutagenesis and alteration in DNA repair mechanisms. In 2005, an interesting study showed that hypoxia-induced decreases in BRCA1 expression and the consequent suppression of homologous recombination may lead to genetic instability. However, nothing is yet known about the involvement of BRCA2 in hypoxic conditions in breast cancer. Initially, a cell proliferation assay allowed us to hypothesize that hypoxia could negatively regulate the breast cancer cell growth in short term in vitro studies. Subsequently, we analyzed gene expression in breast cancer cell lines exposed to hypoxic condition by microarray analysis. Interestingly,…
CYP2D6 increases toxicity of the designer drug 4-methylthioamphetamine (4-MTA)
2006
4-Methylthioamphetamine (4-MTA) belongs to a group of new amphetamine derivatives that is usually sold as "ecstasy" or "flatliners" on the illicit drug market. Large interindividual differences in 4-MTA mediated toxicity have been reported in humans. Therefore, we tested whether CYP2D6 or its variant alleles as well as CYP3A4 influence the susceptibility to 4-MTA. For this purpose, we used the colony formation assay with Chinese hamster lung fibroblast V79 cells expressing human wild-type CYP2D6 (CYP2D6*1), the low activity alleles CYP2D6*2, CYP2D6*9, as well as human CYP3A4. The obtained results showed that the expression of wild type CYP2D6*1 clearly enhanced the susceptibility to the cyt…
Changes in mode of transportation to work or school from pre-pregnancy to early pregnancy in the Norwegian Fit for Delivery study
2015
Objective To describe changes in mode of transportation to work or school from pre-pregnancy to early pregnancy, to describe levels of physical activity related to mode of transportation to work or school, and to examine associations between changes in mode of transportation to work or school and educational level, body mass index (BMI) and age. Methods Between September 2009 and February 2013, 575 healthy pregnant nulliparous women were included into the Norwegian Fit for Delivery (NFFD) trial. At inclusion they reported their current and their pre-pregnancy mode of transportation to work or school. Data were analysed by multilevel mixed models with dichotomized modes of transportation as …
Spatial autocorrelation and the selection of simultaneous autoregressive models
2007
Aim Spatial autocorrelation is a frequent phenomenon in ecological data and can affect estimates of model coefficients and inference from statistical models. Here, we test the performance of three different simultaneous autoregressive (SAR) model types (spatial error = SAR err , lagged = SAR lag and mixed = SAR mix ) and common ordinary least squares (OLS) regression when accounting for spatial autocorrelation in species distribution data using four artificial data sets with known (but different) spatial autocorrelation structures. Methods We evaluate the performance of SAR models by examining spatial patterns in model residuals (with correlograms and residual maps), by comparing model para…
Species richness of migratory birds is influenced by global climate change
2007
Aim Global climate change is increasingly influencing ecosystems. Long-term effects on the species richness and composition of ecological communities have been predicted using modelling approaches but, so far, hardly demonstrated in the field. Here, we test whether changes in the composition of bird communities have been influenced by recent climate change. Location Europe. Methods We focus on the proportion of migratory and resident bird species because these groups are expected to respond differently to climatic change. We used the spatial relationship between climatic factors and bird communities in Europe to predict changes in 21 European bird communities under recent climate change.…
Impact of climate change on migratory birds: community reassembly versus adaptation
2007
Aim Species can respond to global climate change by range shifts or by phenotypic adaptation. At the community level, range shifts lead to a turnover of species, i.e. community reassembly. In contrast, phenotypic adaptation allows species to persist in situ , conserving community composition. So far, community reassembly and adaptation have mostly been studied separately. In nature, however, both processes take place simultaneously. In migratory birds, climate change has been shown to result in both exchange of species and adaptation of migratory behaviour. The aim of our study is to predict the impact of global climate change on migratory bird communities and to assess the extent to which …
Quantifying Excess Deaths Related to Heatwaves under Climate Change Scenarios: A multicountry time series modelling study
2018
Background: Heatwaves are a critical public health problem. There will be an increase in the frequency and severity of heatwaves under changing climate. However, evidence about the impacts of climate change on heatwave-related mortality at a global scale is limited. Methods and findings: We collected historical daily time series of mean temperature and mortality for all causes or nonexternal causes, in periods ranging from January 1, 1984, to December 31, 2015, in 412 communities within 20 countries/regions. We estimated heatwave–mortality associations through a two-stage time series design. Current and future daily mean temperature series were projected under four scenarios of greenhouse g…