Search results for "MUTATION"

Impaired crypsis of fish infected with a trophically transmitted parasite

2005

Trophically transmitted parasites may enhance their transmission by altering the phenotype of infected hosts to increase their vulnerability to predation by the next hosts in the life cycle. In an experimental study, we investigated whether the parasite Diplostomum spathaceum (Trematoda) alters cryptic coloration and cryptic behaviour of infected rainbow trout, Oncorhynchus mykiss, so that they would be more conspicuous to avian predators. The parasite reduces the vision of fish by lodging in the eyes and inducing cataract formation, which gives it an opportunity to affect fish crypsis. We examined the effect of the parasite on the ability of fish to adjust their coloration to the environme…

A luminal glycoprotein drives dose-dependent diameter expansion of the Drosophila melanogaster hindgut tube

2012

An important step in epithelial organ development is size maturation of the organ lumen to attain correct dimensions. Here we show that the regulated expression of Tenectin (Tnc) is critical to shape the Drosophila melanogaster hindgut tube. Tnc is a secreted protein that fills the embryonic hindgut lumen during tube diameter expansion. Inside the lumen, Tnc contributes to detectable O-Glycans and forms a dense striated matrix. Loss of tnc causes a narrow hindgut tube, while Tnc over-expression drives tube dilation in a dose-dependent manner. Cellular analyses show that luminal accumulation of Tnc causes an increase in inner and outer tube diameter, and cell flattening within the tube wall,…

Genetic Determinants in a Critical Domain of NS5A Correlate with Hepatocellular Carcinoma in Cirrhotic Patients Infected with HCV Genotype 1b

2021

HCV is an important cause of hepatocellular carcinoma (HCC). HCV NS5A domain-1 interacts with cellular proteins inducing pro-oncogenic pathways. Thus, we explore genetic variations in NS5A domain-1 and their association with HCC, by analyzing 188 NS5A sequences from HCV genotype-1b infected DAA-naïve cirrhotic patients: 34 with HCC and 154 without HCC. Specific NS5A mutations significantly correlate with HCC: S3T (8.8% vs. 1.3%, p = 0.01), T122M (8.8% vs. 0.0%, p &lt

Rencontres du Clos-Vougeot 2012 - Crises, mutations, innovations : le devenir du monde vitivinicole

2013

International audience

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.

Defective copper transport in the copt5 mutant affects cadmium tolerance.

2014

Cadmium toxicity interferes with essential metal homeostasis, which is a problem for both plant nutrition and the consumption of healthy food by humans. Copper uptake is performed by the members of the Arabidopsis high affinity copper transporter (COPT) family. One of the members, COPT5, is involved in copper recycling from the vacuole toward the cytosolic compartment. We show herein that copt5 mutants are more sensitive to cadmium stress than wild-type plants, as indicated by reduced growth. Exacerbated cadmium toxicity in copt5 mutants is due specifically to altered copper traffic through the COPT5 transporter. Three different processes which have been shown to affect cadmium tolerance ar…

Hybrid evolutionary multi-objective optimization with enhanced convergence and diversity

2011

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch r…

2022

Abstract Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This com…

Project introduction. Atelier 1 - Land trouvé. Methodologies and strategies

2016

The Po river has an inflection near the centre of Piacenza. In the riverbed (Maggi islets) and on the two shores, there are peculiar places with historical-naturalistic values (wetland areas near to Trebbia river; farmhouses; Genio Pontieri barrack; old industrial traces; canals; rural fields). You can imagine the curve of the river like an expanded strip that extends and compresses itself into a sinusoidal mud. Railway and roads cross the river defining, together with the adjacent railway bridge, the gateway to the city but also the connection with a large scale of the territory. Between local and global levels, pre-existing elements are reference of distances and heights in a changing sys…

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…