Search results for "Molecular analysis"

Genetic and molecular analysis of six tumor suppressor genes in Drosophila melanogaster

1990

Six Drosophila melanogaster tumor suppressor genes causing malignant or benign tumors in specific cell types are described. The wild-type alleles of these genes are instrumental in the differentiation of particular cell types. In the homozygous state, recessive mutations in the genes interrupt the differentiation of the cells and thus cause their uncontrolled, autonomous, lethal proliferation. The tumors show all major characteristics of malignant and benign neoplastic growth. Genomic sequences of four of the genes have been identified and are currently being characterized. ImagesFIGURE 1.FIGURE 2.FIGURE 2.

Transglutaminase-1 and Bathing Suit Ichthyosis: Molecular Analysis of Gene/Environment Interactions

2009

Loss of heterozygosity at the short arm of chromosome 3 in renal‐cell cancer correlates with the cytological tumour type

1993

A majority of renal-cell tumours retain heterozygosity at the short arm of chromosome 3. To investigate possible histopathological differences between tumours with and without such losses, we compared loss of heterozygosity data from 51 tumours with 1 histological and 2 different cytological classifications of renal-cell tumour. Using the cytological classification of Thoenes et al., we only found tumours with loss of heterozygosity in these authors' clear-cell category. Possibly, only these tumours arise by a mechanism of double loss of a tumour-suppressor gene on 3p, non-clear-cell renal tumours having a different genetic background. Alternatively, deletions may occur in all subtypes, in …

Utility of laser microdissection and pressure catapulting in the diagnosis of non small cell lung cancer: Preliminary data

2014

Background: There are controversies about the adequacy of tumor tissue sample on which the sequencing of molecular diagnosis could be performed to achieve the targeted-therapy on lung cancer. The aim of this study is to demonstrate the role of the Laser Microdissection Pressure Catapulting (LMPC) technique to obtain adequate tumor tissue sample for the molecular analysis of gene mutations in the target therapy of lung cancer. Findings: From a consecutive series of 24 patients with a diagnosis of locally-advanced or metastatic Non Small Cell Lung Cancer (NSCLC), we performed 29 diagnostic procedures using the system of LMPC, to obtain an homogeneous samples where it was possible to run the s…

Genetic systems for a new approach to risk of progression of diabetic retinopathy.

2016

OBJECTIVE: To evaluate the risk of progression of diabetic retinopathy (DR) using new strategies to obtain genetic information in type 2 diabetes (T2D) based on interfering ribonucleic acid (RNA). MATERIAL AND METHODS: A prospective multicentre case-control study of 132 participants was distributed into: T2D with (+DR) or without (-DR) (T2DG; n=77), and a control group (CG; n=55). After an eye examination and personal interview, tears were collected for molecular analysis (expression of microRNAs [miRNAs] (miRCURY ARN Isolation Kit, Qiagen)]. Libraries, 137 vs. 140bp (GeneMapper, Applied Biosystems), were obtained in 18 samples (T2DG+DR=6; T2DG-DR=6; CG=6) by performing next-generation sequ…

Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis

2020

Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 interm…

Identification of enteroviral infection among infants and children admitted to hospital with acute gastroentritis in Ho Chi Minh City, Vietnam

2005

A total of 276 fecal specimens collected from infants and children admitted to hospital with acute gastroenteritis in Ho Chi Minh City, Vietnam from October 2002 to September 2003, were tested for the presence of enteroviruses by RT-PCR and virus isolation. Enteroviruses were detected in 27 patients by RT-PCR corresponding to 9.8%. However, only four enterovirus strains could be isolated by cell culture with two different cell lines CaCo2 and Vero, showing specific cytopathic effect (CPE). The results clearly indicate that RT-PCR is a sensitive, specific assay to investigate the true burden of acute gastroenteritis due to enteroviruses in clinical fecal specimens. In the present study, ente…

Mutant K-ras2 in serum

2003

Mutant tumour derived DNA has been detected in the sera of colorectal cancer patients. We investigated if mutant serum KRAS2 was detectable preoperatively in a large group of patients with colorectal neoplasia. A prospective study of 94 patients who underwent putative curative resection for colorectal carcinoma (CRC) was performed to ascertain if serum mutant KRAS2 could be used postoperatively as a disease marker.Preoperative sera from 78 patients were analysed (group A). Sera from 94 patients were obtained three monthly for up to three years during the postoperative period (group B). Codon 12 and 13 KRAS2 mutations were analysed in matched tumour and serum samples.In the preoperative grou…

Orthokeratinized odontogenic cysts: a Spanish tertiary care centre study based on HPV DNA detection

2018

Abstract Background The role of human papillomavirus (HPV) in orthokeratinized odontogenic cysts (OOCs) has rarely been studied. The objective is to describe the clinicopathological findings in a series of OOCs from a Spanish population that were investigated in relation to the possible presence of HPV. Methods A clinicopathological retrospective analysis followed by a molecular analysis of 28 high- and low-risk HPV genotypes was performed in OOC samples of patients seen during the last 15-years in a Spanish tertiary care center. Results Of 115 odontogenic cysts with keratinization, 16 cases of OOCs were confirmed and evaluated. OOCs occurred predominantly in the mandible of males (mean age…

Macrofungi in Mediterranean maquis along seashore and altitudinal transects

2014

In semi-arid Mediterranean environments, fungal activity is fundamental for buffering biotic and abiotic stress to the plant and for sustaining a vegetation cover. Despite the important role that fungi play in habitats stability, mycological data from Mediterranean ecosystems are scarce and fragmentary. We investigated fungal diversity in several areas characterized by Mediterranean maquis, from continental Italy, Sicily, and Greece in order to contribute to the analysis of distribution, ecology, and diversity of macrofungi in evergreen sclerophyllous shrublands at different elevation and distance from the seashore across the Mediterranean Basin. Several fungal taxa that are remarkable due …