Search results for "DNA"

Frequency of polymorphisms of signal peptide of TGF-beta1 and -1082G/A SNP at the promoter region of Il-10 gene in patients with carotid stenosis

2006

The role of inflammation in atherosclerosis is well recognized. We have evaluated the allele frequencies of the +869T/C and +915G/C polymorphisms (SNPs) at the TGF-beta1 gene and -1082G/A SNP at IL-10 promoter sequence, two well-known immunosuppressive and anti-inflammatory cytokines, in patients with carotid stenosis. Our data suggest a lack of association between these SNPs and the susceptibility to atherosclerosis although other reports have demonstrated this association. These results may be due to the pleiotropic effects of the cytokines and/or differences in haplotype combination that should be investigated to elucidate the role of TGF-beta1 and IL-10 polymorphisms in atherosclerosis.

Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal R…

2022

Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother’s blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes …

The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis

2022

Background: The circulating tumor DNA (ctDNA) diagnostic accuracy for detecting phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha ( PIK3CA) mutations in breast cancer (BC) is under discussion. We aimed to compare plasma and tissue PIK3CA alterations, encompassing factors that could affect the results. Methods: Two reviewers selected studies from different databases until December 2020. We considered BC patients with matched tumor tissue and plasma ctDNA. We performed meta-regression and subgroup analyses to explore sources of heterogeneity concerning tumor burden, diagnostic technique, sample size, sampling time, biological subtype, and hotspot mutation. Pooled sensitiv…

The E3 Ubiquitin Ligase MID1 Catalyzes Ubiquitination and Cleavage of Fu

2014

Sonic Hedgehog (SHH)-GLI signalling plays an important role during embryogenesis and in tumorigenesis. The survival and growth of several types of cancer depend on autonomously activated SHH-GLI signalling. A protein complex containing the ubiquitin-ligase MID1 and protein phosphatase 2A (PP2A) regulates the nuclear localization and transcriptional activity of GLI3, a transcriptional effector molecule of SHH, in cancer cell lines with autonomously activated SHH signalling. However, the exact molecular mechanisms that mediate the interaction between MID1 and GLI3 remained unknown. Here, we show that MID1 catalyses the ubiquitination and proteasomal cleavage of the GLI3-regulator Fu. Our data…

Understanding the microbial biogeography of ancient human dentitions to guide study design and interpretation

2022

©. This manuscript version is made available under the CC-BY 4.0 license http://creativecommons.org/licenses/by/4.0/ This document is the Published manuscript version of a Published Work that appeared in final form in FEMS Microbes. To access the final edited and published work see DOI: 10.1093/femsmc/xtac006 The oral cavity is a heterogeneous environment, varying in factors such as pH, oxygen levels, and salivary flow. These factors affect the microbial community composition and distribution of species in dental plaque, but it is not known how well these patterns are reflected in archaeological dental calculus. In most archaeological studies, a single sample of dental calculus is studied p…

The interaction of novel transition metal complexes and ligands with biomolecular targets: kinetic, thermodynamic and computational investigations.

Liquid biopsy in colorectal carcinoma: the search for potential prognostic and predictive biomarkers

Background: Liquid biopsy is considered a repeatable, non-invasive and dynamic tool. It could be able to recover from liquid samples (expecially blood)) cancer-specific informations (miRNAs, circulating-free DNA (cfDNA), circulating tumor DNA (ctDNA) and exosomes) by overcoming the limitations associated with traditional tissue biopsy. Aim: to investigate the potential prognostic and predictive role of blood cancer-related biomarkers such as cfDNA or ctDNA and exosomal DNA in colorectal cancer (CRC) patients. Results: cfDNA or ctDNA and exosomal DNA could have a potential applicability in CRC management. New generation technologies are able to identify clinically relevant genomic alteration…

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

2011

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…

Ārpusšūnu cirkulējošo nukleīnskābju izpēte hipofīzes adenomas pacientos

2019

Līdz šim literatūrā nav ziņojumu par ccfDNA un cirkulējošo miRNS izpēti HA pacientu plazmā. Darbā tika novērtēta iespējamība detektēt HA izcelsmes ccfDNA plazmā, veicot mērķētu NGS pozīcijās, kuras saturēja HA somatiskās mutācijas, un veikts pētījums par miRNS sastāva izmaiņu detektēšanu plazmā 24 stundas pēc HA rezekcijas. HA eksomos atklātās somatiskās mutācijas tikai detektētas septiņās no 16 pārbaudītajām pozīcijām ccfDNA amplikonos. Divās ccfDNA pozīcijās mutantā alēle bija vairāk nekā 2% no kopējā nolasījumu skaita, kas varētu liecināt par šo ccfDNA izcelsmi no HA. Piecās pozīcijās no diviem HA pacientiem mutantās alēles īpatsvars ccfDNA bija ap 50%, kaut gan šīs mutācijas netika kons…

Serological and molecular identification of Legionella spp. isolated from water and surrounding air samples in Italian healthcare facilities

2016

Abstract Background Legionella is an intracellular microorganism living in natural and artificial aquatic environments. Although its transmission to humans is linked to the inhalation of contaminated aerosols, there is no validated air sampling method for the control and prevention of the disease. The aim of the present study was to provide more information on the distribution of Legionella spp. in indoor environments and to determine whether the same Legionella strains are isolated from air and water samples. Methods Ten healthcare facilities located in seven regions of Italy were enrolled. The serological typing of Legionella spp. from water samples and the surrounding air by active and p…