Search results for "Dominant"
showing 10 items of 231 documents
Human leucocyte antigen-A2 restricted and Mycobacterium tuberculosis 19-kDa antigen-specific CD8+ T-cell responses are oligoclonal and exhibit a T-ce…
2001
CD8+ T cells can be grouped into two different types of secretory T lymphocytes, based on the cytokine-secretion pattern upon antigen exposure: those with a T-cell cytotoxic type 1 response (Tc1), which secrete interferon-gamma (IFN-gamma), or those with a T-cell cytotoxic type 2 response, which secrete interleukin (IL)-4 and IL-10. We examined the CD8+ T-cell response directed against an immunodominant human leucocyte antigen (HLA)-A2-presented peptide derived from a 19-kDa Mycobacterium tuberculosis-associated antigen. T cells were examined by functional analysis and by T-cell receptor (TCR) complementarity-determining region 3 (CDR3)-spectratyping, which defines the complexity of a T-cel…
The induction of cytochrome P450 3A5 (CYP3A5) in the human liver and intestine is mediated by the xenobiotic sensors pregnane X receptor (PXR) and co…
2004
Induction of cytochrome P450 3A (CYP3A) by xenobiotics may lead to clinically relevant drug interactions. In contrast with other CYP3A family members, studies on the inducibility of CYP3A5 indicate conflicting results. We report the induction of CYP3A5 mRNA in 13 of 16 hepatocyte preparations exposed to rifampin. Furthermore, induction of CYP3A5 mRNA was observed in intestinal biopsies in three of eight probands following exposure to the antibiotic. The highest absolute levels of CYP3A5 transcripts were found following rifampin treatment in hepatocytes and intestines from carriers of CYP3A5*1 alleles. Elucidation of the mechanism involved in CYP3A5 induction revealed that constitutively act…
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area
2015
Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involve…
A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics
2011
Glutamate excitotoxicity leads to fragmented mitochondria in neurodegenerative diseases, mediated by nitric oxide and S-nitrosylation of dynamin-related protein 1, a mitochondrial outer membrane fission protein. Optic atrophy gene 1 (OPA1) is an inner membrane protein important for mitochondrial fusion. Autosomal dominant optic atrophy (ADOA), caused by mutations in OPA1, is a neurodegenerative disease affecting mainly retinal ganglion cells (RGCs). Here, we showed that OPA1 deficiency in an ADOA model influences N-methyl-D-aspartate (NMDA) receptor expression, which is involved in glutamate excitotoxicity and oxidative stress. Opa1enu/+mice show a slow progressive loss of RGCs, activation …
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
2005
Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C --> T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and…
Process reference frameworks as institutional arrangements for digital service innovation
2020
Abstract Information systems (IS) service organizations are increasingly more concerned with their ability to co-create digital services with customers in service ecosystems. Practitioners and researchers, however, lack understanding of which organization mechanisms effectively contribute to IS organizations’ innovation practices. Grounded in service-dominant logic, we hypothesized that process reference frameworks (PRFs), such as the IT Infrastructure Library (ITIL), act as institutional arrangements through their norms, rules, and practices, enhancing IS organizations’ ability to innovate digital services. Data collected from 159 IS organizations confirmed our hypotheses, showing that eff…
Manager's Toolbox for OSS/BSS Market Analysis
2009
The purpose of this section is to provide a set of quick tools for analysts and managers to analyze the status of the telecom operator software market.
Decisioni con impegni, misure cautelari e programmi di clemenza (anno 2012)
2013
Le decisioni con impegni, le misure cautelari e i programmi di clemenza costituiscono strumenti innovativi ed efficienti di cui l’Autorità garante della concorrenza e del mercato (Agcm) è stata dotata, a far data dal 2006, nella repressione delle intese e degli abusi di posizione dominante. La dottrina italiana ha sottolineato come, fino al 2011, la prassi decisionale dell’Agcm sia stata caratterizzata da un eccessivo ed irragionevole ricorso alle decisioni con impegni, a fronte di una limitata adozione di misure cautelari e di un sostanziale insuccesso dei programmi di clemenza. Nell’arco di tempo preso in considerazione dalla presente rassegna — l’anno 2012 —, l’Agcm non ha mai ritenuto o…
Nova Iorque: um novo prefeito para a capital do capital
2013
Enrique é nova-iorquino de 34 anos, puro e duro, viajado, filho de trabalhadores colombianos. É de esquerda, participou no movimento Occupy. Conhece a sub-cultura metropolitana nova-iorquina e, como muitos de sua geração, lembra com nostalgia a Nova Iorque pré-1995. Sim, a cidade era suja, perigosa, devido à introdução do crack dos anos pós-Vietnã. As conseqüências sociais do capitalismo mutante dos últimos anos 70 e a crise social produzida pelos anos Reagan despejavam na cidade desemprego, miséria, prostitutas. Mas, ao mesmo tempo, havia oposição, um resto de oposição. Uma oposiçãozinha política, social, cultural.
Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.
2011
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population. HBL are defined as primary or secondary according to the underlying causes. Primary monogenic HBL are caused by mutations in several known genes (APOB, PCSK9, MTP, SARA2) or mutations in genes not yet identified. Familial hypobetalipoproteinemia (FHBL) is the most frequent monogenic form of HBL with a dominant mode of inheritance. It may be due to loss-of-function mutations in APOB or, less frequently, in PCSK9 genes.…