Search results for "mutation."
showing 10 items of 2808 documents
Cutaneous mosaic syndromes associated with early postzygotic activating BRAF mutations
2017
IF 3.528; International audience
A non common BRAF mutation c1799-1801 delTGA identified in sporadic colon rectal cancer of sicilian patients
2010
Anthracycline has been shown to induce heart failure. To monitor this toxic damage, echocardiographic parameters of left ventricular (LV) systolic function are usually used. Aim of this study was to evaluate in lymphoma’s patients the reliability of echocardiographic data in comparison with a LV systo-diastolic parameter function: the Tei index.
BRAFV600E MUTATION, TISSUE INHIBITOR OF METALLOPROTEINASE-1 UPREGULATION AND NF-KB ACTIVATION: CLOSING THE LOOP ON THE PAPILLARY THYROID CANCER TRILO…
2011
BRAFV600E is the most common mutation in papillary thyroid carcinoma (PTC). Tissue inhibitor of metalloproteinases (TIMP-1) and Nuclear Factor (NF)-kB have been shown to play an important role in thyroid cancer. Our aim was to evaluate whether an interplay among these three factors exerts a functional role in PTCs. 56 PTC specimens were analyzed for BRAFV600E mutation, TIMP-1 expression and NF-kB activation by real-time allele-specific amplification, realtime quantitative PCR (qRT-PCR) and electroforetic mobility shift assay (EMSA), respectively. We show that BRAFV600E mutation occurs selectively in PTC nodules and determines up-regulation of TIMP-1 and hyperactivation of NF-kB. In addition…
BRCA1/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: Looking for the hidden meaning
2021
Hereditary breast and ovarian cancer syndrome is caused by germline mutations in BRCA1/2 genes. These genes are very large and their mutations are heterogeneous and scattered throughout the coding sequence. In addition to the above-mentioned mutations, variants of uncertain/unknown significance (VUSs) have been identified in BRCA genes, which make more difficult the clinical management of the patient and risk assessment. In the last decades, several laboratories have developed different databases that contain more than 2000 variants for the two genes and integrated strategies which include multifactorial prediction models based on direct and indirect genetic evidence, to classify the VUSs a…
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
2022
Funder: Università degli Studi di Catania
The Agr communication system provides a benefit to the populations of Listeria monocytogenes in soil
2014
International audience; In this study, we investigated whether the Agr communication system of the pathogenic bacterium Listeria monocytogenes was involved in adaptation and competitiveness in soil. Alteration of the ability to communicate, either by deletion of the gene coding the response regulator AgrA (response-negative mutant) or the signal pro-peptide AgrD (signal-negative mutant), did not affect population dynamics in soil that had been sterilized but survival was altered in biotic soil suggesting that the Agr system of L. monocytogenes was involved to face the complex soil biotic environment. This was confirmed by a set of co-incubation experiments. The fitness of the response-negat…
Electrophysiological evidence for heptameric stoichiometry of ion channels formed by Staphylococcus aureus alpha-toxin in planar lipid bilayers.
2000
Staphylococcal alpha-toxin forms homo-oligomeric channels in lipid bilayers and cell membranes. Here, we report that electrophysiological monitoring of single-channel function using a derivatized cysteine substitution mutant allows accurate determination of the subunit stoichiometry of the oligomer in situ. The electrophysiological phenotype of channels formed in planar lipid bilayers with the cysteine replacement mutant I7C is equal to that of the wild type. When pores were formed with I7C, alterations of several channel properties were observed upon modification with SH reagents. Decreases in conductance then occurred that were seen only as negative voltage was applied. At the level of si…
Multiply Transitive Permutation Groups
1982
Since the beginnings of finite group theory, the multiply transitive permutation groups have exercised a certain fascination. This is mainly due to the fact that apart from the symmetric and alternating groups not many of them were known. Only very recently final results about multiply transitive permutation groups have been proved, using the classification of all finite simple groups (see 7.5).
On finite products of totally permutable groups
1996
In this paper the structure of finite groups which are the product of two totally permutable subgroups is studied. In fact we can obtain the -residual, where is a formation, -projectors and -normalisers, where is a saturated formation, of the group from the corresponding subgroups of the factor subgroups.
Beckwith–Wiedemann syndrome: multiple molecular mechanisms
2006
Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth condition with an increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal features are abdominal wall defects, macroglossia and gigantism. BWS is generally sporadic; only 10–15% of cases are familial. A variety of molecular aberrations have been associated with BWS. The only mutations within a gene are loss-of-function mutations in the CDKN1C gene, which codes for an imprinted cell-cycle regulator. CDKN1C mutations appear to be particularly associated with umbilical abnormalities, but not with increased predisposition to Wilms' tumour. In the remaining BWS subgroups, a disturbance of the tight epigeneti…