Search results for "COD"
showing 10 items of 2985 documents
Interaction of 68–kDa TAR RNA-binding protein and other cellular proteins with rpion protein-RNA stem-loop
1995
The RNA stem-loop structure of the trans-activating region TAR sequence of human immunodeficiency virus-1 mRNA is the binding site for a number of host cell proteins. A virtually identical set of proteins from HeLa nuclear extracts was found to bind to the predicted RNA hairpin element of prion protein (PrP) mRNA, as demonstrated in UV cross-linking/RNase protection and Northwestern assays. We show that the cellular TAR loop-binding protein, p68, is among those proteins which associate with PrP RNA. Competition experiments with various TAR RNA mutants revealed that binding of partially purified p68 to PrP RNA stem-loop occurs sequence-specifically. The 100-kDa 2-5A synthetase which is invol…
Hyplets - Multi Exception Level Kernel towards Linux RTOS
2018
This paper presents the concept of a Multi-Exception level operating system. We add a hypervisor awareness to the Linux kernel and execute code in hyp exception level. We do that through the use of Hyplets. Hyplets are an innovative way to code interrupt service routines under ARM. Hyplets provide high performance, security, running time predictability, an RPC mechanism and a possible solution for the priority inversion problem. Hyplets uses special features of ARM8va hypervisor memory architecture.
Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia.
2015
Objective— Cyclic AMP responsive element–binding protein 3–like 3 ( CREB3L3 ) is a novel candidate gene for dominant hypertriglyceridemia. To date, only 4 kindred with dominant hypertriglyceridemia have been found to be carriers of 2 nonsense mutations in CREB3L3 gene (245fs and W46X). We investigated a family in which hypertriglyceridemia displayed an autosomal dominant pattern of inheritance. Approach and Results— The proband was a 49-year-old woman with high plasma triglycerides (≤1300 mg/dL; 14.68 mmol/L). Her father had a history of moderate hypertriglyceridemia, and her 51-year-old brother had triglycerides levels as high as 1600 mg/dL (18.06 mmol/L). To identify the causal mutation …
Germline correction of an epimutation related to Silver-Russell syndrome.
2015
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the sperm…
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.
2001
Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. Familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one f…
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant.
2021
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, starting from raw sequencing files, followed by genome-wide variant calling and new data interpretation. This strategy led to the identification of a disease-causing de novo missense variant in TUBB3 in a girl with severe developmental delay, secondary microcephaly, brain imaging abnormalities, high hypermetropia, strabismus and short stature. Interestingly, the TUBB3 variant could only be identified through reanalysis of ES data using a genome-wi…
The influence of environmental factors on abundance and prevalence of a commensal ostracod hosted by an invasive crayfish: are ‘parasite rules’ relev…
2014
Summary Symbiosis represents a widespread and successful lifestyle, but research on symbiotic associations has been mainly focused on parasites. Three general patterns in parasite ecology have been proposed: (i) aggregation, (ii) positive and tight correlation between mean symbiont abundance and its variance and (iii) positive correlation between abundance and prevalence of symbionts. The factors affecting abundance and prevalence within symbiont species can be grouped into host features and environmental conditions. According to research in parasite ecology, environmental conditions seem to play a minor role. We investigated whether the three most recognised parasite patterns were also evi…
Darsi codici etici in antropologia. Riflessioni a margine del processo di adozione del codice deontologico della Società Italiana di Antropologia App…
2016
Through review of selected anthropological ethical codes an attempt is made to outline the fundamental ethical principles of anthropological research and their applicability to current practices of applied anthropology. The Statement on Problems of Anthropological Research and Ethics was adopted by the American Anthropological Association in response to the need to take distance from military research after the Camelot scandal. Anthropology reacted stronger than other disciplines due to its methodology implying a relation of trust with the community. The Codice etico of AISEA defines the anthropologist’s obligations with different type of actors. In applied anthropology more attention shoul…
Il processo civile telematico. 2. Duplicati informatici, copie informatiche, attestazione di conformità
2023
L’autore esamina la nuova disciplina, introdotta dal d.lgs. 149/2022 nel codice civile, in materia di duplicati informatici, copie informatiche e attestazione di conformità, evidenziandone le criticità, con particolare riferimento all’insufficiente coordinamento delle disposizioni con il Codice dell’Amministrazione Digitale.
Ripensare l’alleanza terapeutica attraverso lo studio del processo terapeutico nella cura del panico. Due terapie ad orientamento psicodinamico.
2009
Il Disturbo da Attacchi di Panico (DAP) è, sul piano clinico, una sindrome acuta e cronica, ad alta incidenza epidemiologica, che costituisce oggi, insieme alla fobia sociale e alla depressione, una delle tre maggiori cause d’invalidità della popolazione e, conseguentemente, una delle maggiori fonti di costi sociali, medici e psichiatrici (DSM-IV-TR, 2000). In questo articolo, assumendo il concetto di relazione come elemento caratterizzante il trattamento terapeutico, si cerca di connettere la manifestazione fenomenologica del panico alle modalità relazionali del soggetto e al loro significato. Si cerca di adottare questo “sguardo” anche in una prospettiva di ricerca, attraverso la “lente” …