Search results for "B1"
showing 10 items of 1109 documents
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…
Is It Possible to Produce Certified Hazelnut Plant Material in Sicily? Identification and Recovery of Nebrodi Genetic Resources, in vitro Establishme…
2021
Eight Sicilian cultivars of hazelnut (Corylus avellanaL.), namely-Curcia, Nociara Collica, Panottara Collica, Panottara Galati Grande, Parrinara, Panottara Baratta Piccola, Enzo, and Rossa Galvagno, registered into the Italian Cultivar Register of fruit tree species in 2017 were selected from Nebrodi area and establishedin vitro. The aim of the work was to carry out the sanitation of the cultivars and get virus-free plants from the most important viral pathogen threat, theapple mosaic virus. Virus-free plant material is essential for the production of certified plants from Sicilian hazelnut cultivars, complying the CE (cat. CAC) quality and the technical standards established in 2017 for vo…
La lógica de la apariencia en Marx. Sobre la interpretación de Clara Ramas San Miguel del fetichismo y la mistificación capitalistas
2020
Las nociones de fetichismo y misticismo constituyen los conceptos fundamentales con los que Marx analiza las formas de la apariencia propias de las sociedades capitalistas. Estos conceptos tienen un valor arquitectónico en la estructura interna del proyecto de Marx de una crítica de la economía política. Este trabajo pretende exponer y discutir las aportaciones interpretativas abiertas por el libro de Clara Ramas San Miguel: Fetiche y Mistificación capitalistas. La crítica de la economía política de Marx publicado en 2018 en la editorial Siglo XXI.
Erradicando la xenofobia y la aporofobia desde la compasión ética como capacidad clave de la neuroeducación moral
2021
Drawing on the contributions of some of the most recent and relevant studies on neuroethics and moral neuroeducation, this paper undertakes an analysis of compassion. In order to focus on the results of this neuroscientific research a reductionist naturalist framework is set aside in order to embrace the broader outlook of a moral neuroeducation that, firstly, refuses to reduce its normative character to the human capacity for evolutionary adaptation; and, secondly, seeks to locate within the brain the neuronal foundations for the development of a capacity for compassion towards those of one’s own community, and also those from outside it. Thereby, this capacity for compassion moves beyond …
Ethica cordis
2007
La ética del discurso es un óptimo fundamento para la ética cívica de una sociedad moralmente pluralista, pero siempre que no se contente con su dimensión procedimental, sino que saque a la luz su dimensión cordial. Sólo que entonces pasa de ser ética del discurso a ethica cordis. El presente trabajo intenta dar ese paso, y con ese fin cubre tres etapas: 1) en qué medida son necesarios los vínculos, 2) en qué consiste el vínculo discursivo, 3) cómo el vínculo comunicativo incluye el discursivo y va más allá, dando lugar a una ética de la razón cordial. Discourse ethics is the best foundation for the civil ethics of a morally pluralist society, but only on condition that it does not remain m…
Om klasslärarnas motivation och behörighet att undervisa i B1-svenska i sjätte klass och erfarenheter av svensklärarrollen
2018
Tämän tutkielman mielenkiinto kohdistuu seitsemän ensimmäistä lukuvuottaan ruotsia opettavan luokanopettajan motivaatioon, kelpoisuuteen ja ruotsin opet-tajana toimimiseen. Elokuussa 2016 peruskoulun opetussuunnitelman uudis-tumisen myötä ruotsin opetus siirtyi alkamaan kuudennelta luokalta, jolloin ai-neenopettajien lisäksi myös jotkin luokanopettajat alkoivat toimia B1-ruotsin opettajina. Tutkielmassa on kartoitettu luokanopettajien motiiveja ryhtyä opet-tamaan muiden alakoulun oppiaineiden lisäksi myös ruotsin kieltä, heidän ruot-sin kielen taustaansa, ajatuksiaan ruotsin opettajan tehtävästä ja pätevyyskä-sityksistä ruotsin opettajana sekä kuultu heidän kokemuksiaan kuluneen vuo-den ope…
Global representation and multiscale expansion for the Dirichlet problem in a domain with a small hole close to the boundary
2019
For each pair (Formula presented.) of positive parameters, we define a perforated domain (Formula presented.) by making a small hole of size (Formula presented.) in an open regular subset (Formula presented.) of (Formula presented.) ((Formula presented.)). The hole is situated at distance (Formula presented.) from the outer boundary (Formula presented.) of the domain. Thus, when (Formula presented.) both the size of the hole and its distance from (Formula presented.) tend to zero, but the size shrinks faster than the distance. Next, we consider a Dirichlet problem for the Laplace equation in the perforated domain (Formula presented.) and we denote its solution by (Formula presented.) Our ai…
Analysis of HLA-DRB1,DQA1,DQB1 haplotypes in Sardinian centenarians
2008
Some genetic determinants of longevity might reside in those polymorphisms for the immune system genes that regulate immune responses. Many longevity association studies focused their attention on HLA (the human MHC) polymorphisms, but discordant results have been obtained. Sardinians are a relatively isolate population and represent a suitable population for association studies. Some HLA-DR and DQ alleles form very stable haplotypes with a strong linkage disequilibrium. In a previous study on Sardinian centenarians we have suggested that HLA-DRB1 *15 allele might be marginally associated to longevity. HLA-DR,DQ haplotypes are in strong linkage disequilibrium and well conserved playing a ro…
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model
2012
SummaryMyotonic dystrophy type 1 (DM1) is a genetic disease caused by the pathological expansion of a CTG trinucleotide repeat in the 3' UTR of the DMPK gene. In the DMPK transcripts, the CUG expansions sequester RNA-binding proteins into nuclear foci, including transcription factors and alternative splicing regulators such as MBNL1. MBNL1 sequestration has been associated with key features of DM1. However, the basis behind a number of molecular and histological alterations in DM1 remain unclear. To help identify new pathogenic components of the disease, we carried out a genetic screen using a Drosophila model of DM1 that expresses 480 interrupted CTG repeats, i(CTG)480, and a collection of…
Sequence analysis of the DRB1 promoter reveals limited polymorphism with no influence on gene expression.
2001
HLA-class II promoters contain a set of conserved regulatory regions necessary for constitutive and induced gene expression. For the HLA-DQB as well as for the DRB1 promoter sequence, polymorphisms with influence on gene expression have been reported. In contrast to these data we could show that there is very limited allele-specific polymorphism among the HLA-DRB1 promoter alleles. In a long range PCR we amplified a DNA sequence containing the promoter and the second exon of the DRB1 gene in one fragment. Nested PCR products of this PCR fragment for the promoter and for the second exon were analysed by DNA sequencing to allow the linkage of a promoter to its DR allele. Most investigated DRB…