Search results for "Genetic Techniques"
showing 10 items of 21 documents
The Genotype of the Donor for the (GT)n Polymorphism in the Promoter/Enhancer of FOXP3 Is Associated with the Development of Severe Acute GVHD but Do…
2015
The FOXP3 gene encodes for a protein (Foxp3) involved in the development and functional activity of regulatory T cells (CD4+/CD25+/Foxp3+), which exert regulatory and suppressive roles over the immune system. After allogeneic stem cell transplantation, regulatory T cells are known to mitigate graft versus host disease while probably maintaining a graft versus leukemia effect. Short alleles (<=(GT)(15)) for the (GT)(n) polymorphism in the promoter/enhancer of FOXP3 are associated with a higher expression of FOXP3, and hypothetically with an increase of regulatory T cell activity. This polymorphism has been related to the development of auto-or alloimmune conditions including type 1 diabetes …
Value of nude mice xenografts in the expression of cell heterogeneity of human sarcomas of bone and soft tissue.
1988
Summary Nude mice xenotransplants have been performed on human primary sarcomas of bone and soft tissues in order to delve into the cell heterogeneity of these neoplasms. Particular emphasis has been given to the group of small round blue cell sarcomas (Ewing's sarcomas and peripheral neuroectodermal tumors). Out of 31 xenotransplanted sarcomas, 16 cases have grown positively, and many of them continue to be transferred into nude mice on a regular time basis, being presently considered as fully established nude lines. Here we report the results of such a system, which has been followed with optical, electron microscopical, immunohistochemical and cytogenetic techniques. Osteosarcomas make u…
Genetic variation in neuromuscular performance.
1973
Using a simple cumulative model of heredity plus environment, based on intrapair differences observed in monozygous (MZ) and dizygous (DZ) twins, the relative contribution of heredity to the interindividual variance in several neuromuscular parameters was determined with 15 pairs of male (8 MZ and 7 DZ) and 14 pairs of female (7 MZ and 7 DZ) twins ranging in age from 10 to 14 years. The data disclosed that in boys the variability in maximal mechanical (anaerobic) power was 99.2% genetically determined under the environmental conditions of the study. The corresponding heritability estimate values for the patellar reflex time and reaction time were 97.5% and 85.7%, respectively. In girls the …
The nuclear autoantigen La/SS-associated antigen B: One gene, three functional mRNAs
1997
Transcription of the gene encoding for the nuclear autoantigen La resulted in three mRNA forms. A promoter switching combined with an alternative splicing pathway replaced exon 1 with either exon 1´ or exon 1´´. The exon 1´´ donor splice site was located 4 nts downstream of the exon 1´ donor splice site. All three La mRNA forms were expressed in all the tissues analysed including peripheral blood lymphocytes, liver, fetal spleen, cultured primary endothelial cells, and mouse LTA cell lines permanently transfected with the human La gene. Both the exons 1´ and 1´´ had unusual structures. They contained GC-rich regions and an oligo(U)-tail of 23 uridine residues. Moreover, they encoded for thr…
Assessment of microRNAs in patients with unstable angina pectoris.
2014
Aims While cardiac troponin measurements have significantly improved the early diagnosis of myocardial infarction, the timely biomarker-based diagnosis of unstable angina pectoris (UAP) remains a major unmet clinical challenge. The aim of this study was to assess levels of circulating microRNAs (miRNAs) as possible novel biomarkers in patients with UAP. Methods and results A three-phase approach was conducted, comprising (i) profiling of miRNAs in patients with UAP and controls groups; (ii) replication of significant miRNAs in an independent patient cohort, (iii) validation of a multi-miRNAs panel in a third cohort. Out of 25 miRNAs selected for replication, 8 miRNAs remained significantly …
CRISPR-Cas12a-Based Detection of SARS-CoV-2 Harboring the E484K Mutation
2021
The novel respiratory virus SARS-CoV-2 is rapidly evolving across the world with the potential of increasing its transmission and the induced disease. Here, we applied the CRISPR-Cas12a system to detect, without the need of sequencing, SARS-CoV-2 genomes harboring the E484K mutation, first identified in the Beta variant and catalogued as an escape mutation. The E484K mutation creates a canonical protospacer adjacent motif for Cas12a recognition in the resulting DNA amplicon, which was exploited to obtain a differential readout. We analyzed a series of fecal samples from hospitalized patients in Valencia (Spain), finding one infection with SARS-CoV-2 harboring the E484K mutation, which was t…
Metilazione del DNA in artrite reumatoide
2005
Lo stato di metilazione del DNA genomico e del gene PTHrP è stato valutato con tecniche molecolari e citogenetiche in artrite reumatoide (AR), patologia autoimmune caratterizzata anche da alta incidenza di linfomi e da ipercalcemia per overespressione del gene PTHrP. La metilazione del DNA, infatti, ha un ruolo critico nello sviluppo delle malattie neoplastiche; il gene PTHrP avendo tre promotori uno dei quali contiene un’isola CpG è un buon candidato per la deregolazione da alterato pattern di metilazione locale. Le indagini sulla metilazione genomica, condotte su DNA estratto da sangue periferico di pazienti e di donatori e amplificato in reazioni di Methylation-Sensitive Arbitrarily Prim…
Do we understand the solid-like elastic properties of confined liquids?
2021
Recently, in polymeric liquids, unexpected solid-like shear elasticity has been discovered, which gave rise to a controversial discussion about its origin (1⇓–3). The observed solid-like shear modulus G depends strongly on the distance L between the plates of the rheometer according to a power law G ∝ L − p with a nonuniversal exponent ranging between p = 2 and p = 3 . Zaccone and Trachenko (4) have published an article in which they claim to explain these findings by a nonaffine contribution to the liquid shear modulus. The latter is represented as Δ G ∝ − ∑ λ = L , T 1 V … [↵][1]1To whom correspondence may be addressed. Email: giancarlo.ruocco{at}roma1.infn.it. [1]: #xref-corresp-1-1
Interstitial Telomeric-like Repeats (ITR) in Seed Plants as Assessed by Molecular Cytogenetic Techniques: A Review.
2021
The discovery of telomeric repeats in interstitial regions of plant chromosomes (ITRs) through molecular cytogenetic techniques was achieved several decades ago. However, the information is scattered and has not been critically evaluated from an evolutionary perspective. Based on the analysis of currently available data, it is shown that ITRs are widespread in major evolutionary lineages sampled. However, their presence has been detected in only 45.6% of the analysed families, 26.7% of the sampled genera, and in 23.8% of the studied species. The number of ITR sites greatly varies among congeneric species and higher taxonomic units, and range from one to 72 signals. ITR signals mostly occurs…
Development of the first marmoset-specific DNA microarray (EUMAMA): a new genetic tool for large-scale expression profiling in a non-human primate
2007
Abstract Background The common marmoset monkey (Callithrix jacchus), a small non-endangered New World primate native to eastern Brazil, is becoming increasingly used as a non-human primate model in biomedical research, drug development and safety assessment. In contrast to the growing interest for the marmoset as an animal model, the molecular tools for genetic analysis are extremely limited. Results Here we report the development of the first marmoset-specific oligonucleotide microarray (EUMAMA) containing probe sets targeting 1541 different marmoset transcripts expressed in hippocampus. These 1541 transcripts represent a wide variety of different functional gene classes. Hybridisation of …