Search results for " Sn"
showing 10 items of 422 documents
Fiktiivisen tekijähahmon roolit ja leikki maailmojen välisellä rajalla Lemony Snicketin Surkeiden sattumusten sarjassa : "Valitettavasti minun täytyy…
2017
Tarkastelen tutkielmassani Surkeiden sattumusten sarja -nimisen lastenkirjasarjan fiktiivisen tekijähahmon, Lemony Snicketin, rooleja sarjan maailman rakentumisen näkökulmasta. Niin Snicket kuin sarjakin ovat Daniel Handler -nimisen materiaalisen tekijän tuotosta, mutta itse kirjoista tämä ei käy ilmi. Snicket ei kuitenkaan ole vain Handlerin salanimi vaan myös kirjojen kertoja ja henkilöhahmo niiden maailmassa. Sarjan annetaan ymmärtää perustuvan Snicketin tutkimustyölle: kirjat ovat fiktiivisiä tutkimusraportteja kolmen orpolapsen epäonnisesta elämästä. Snicket siis on paitsi kertoja myös fiktiivinen tutkija. Tutkimuskysymyksiäni ovat, kuinka Snicketin toiminta kertojana ja tutkijana rake…
Detection of genomic regions underlying milk production traits in Valle del Belice dairy sheep using regional heritability mapping
2021
The aim of this study was to identify genomic regions underlying milk production traits in the Valle del Belice dairy sheep using regional heritability mapping (RHM). Repeated measurements for milk yield (MY), fat percentage and yield (F% and FY) and protein percentage and yield (P% and PY), collected over a period of six years (2006-2012) on 481 Valle del Belice ewes, were used for the analysis. Animals were genotyped with the Illumina 50k SNP chip. Variance components, heritabilities, and repeatability within and across lactations were estimated, fitting parity, litter size, season of lambing, and fortnights in milk, as fixed; and additive genetic, permanent environment within and across …
MIF rs755622 and IL6 rs1800795 Are Implied in Genetic Susceptibility to End-Stage Renal Disease (ESRD)
2022
Chronic kidney disease (CKD) is characterized by an increased risk of kidney failure and end-stage renal disease (ESRD). Aging and comorbidities as cardiovascular diseases, metabolic disorders, infectious diseases, or tumors, might increase the risk of dialysis. In addition, genetic susceptibility factors might modulate kidney damage evolution. We have analyzed, in a group of ESRD patients and matched controls, a set of SNPs of genes (Klotho rs577912, rs564481, rs9536314; FGF23 rs7955866; IGF1 rs35767; TNFA rs1800629; IL6 rs1800795; MIF rs755622, rs1007888) chosen in relation to their possible involvement with renal disease and concomitant pathologies. Analysis of the raw data did indicate …
A case of cannibalism in the false smooth snake Macroprotodon cucullatus on the island of Lampedusa
2020
A case of cannibalism in the false smooth snake Macroprotodon cucullatus on the island of Lampedusa
Effect of a free healthy school meal on fruit, vegetables and unhealthy snacks intake in Norwegian 10- to 12-year-old children
2020
Abstract Background Norwegian children have a lower intake of fruit, vegetables, and a higher intake of unhealthy snacks compared to dietary guidelines. Such dietary inadequacies may be detrimental for their current and future health. Schools are favorable settings to establish healthy eating practices. Still, no school meal arrangement is provided in Norway, and most children typically bring packed lunches from home. The aim of this study was to investigate whether serving a free healthy school meal for one year resulted in a higher intake of fruit and vegetables and a lower intake of unhealthy snacks in total among 10–12-year-olds in Norway. Methods The School Meal Project in Southern Nor…
Genetic risk profiles for Alzheimer's disease: Integration of APOE genotype and variants that up-regulate inflammation
2007
BACKGROUND: A number of studies associate Alzheimer's disease with APOE polymorphism and alleles which favor the increased expression of immunological mediators such as cytokines or acute phase proteins. We integrated this information to better define risk and determine the relative importance of APOE and immunological mediators. METHODS: We investigated functional gene variants for APOE, IL-10 (3 loci), ACT (2 loci), HMGCR, IL-1alpha, IL-1beta, TNF-alpha, IFN-gamma, and IL-6 found for 260 AD patients and 190 controls enrolled in Northern Italy. A fuzzy latent classification approach, namely grade-of-membership analysis (GoM), was taken to identify extreme pure type risk sets, or profiles. …
Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: Results from a multicenter study in Italy
2015
Increasing evidence indicates that common genetic variants may contribute to the heritable risk of breast cancer (BC). In this study, we investigated whether single nucleotide polymorphisms (SNPs), within the 8q24.21 multi-cancer susceptibility region and within BC-associated loci widespread in the genome, may influence the risk of BC in men, and whether they may be associated with specific clinical-pathologic characteristics of male BC (MBC). In the frame of the ongoing Italian Multicenter Study on MBC, we performed a case-control study on 386 MBC cases, including 50 BRCA1/2 mutation carriers, and 1105 healthy male controls, including 197 unaffected BRCA1/2 mutation carriers. All 1491 subj…
A Pilot Study on Prostate Cancer Risk and Pro-Inflammatory Genotypes: Pathophysiology and Therapeutic Implications
2010
Host genetic factors are crucial risk determinants for many human cancers. In this framework, an interesting model is represented by prostate cancer (PC), which is featured by a complex pathophysiology with a strong genetic component. Multiple genes seem to influence PC risk and several single nucleotide polymorphisms (SNPs) of candidate genes modifying PC susceptibility have been identified. It is noteworthy the potential association of common SNPs in pro-inflammatory genes with PC risk, since chronic inflammation is assumed to play a key role in prostate carcinogenesis. With the aim to identify candidate genes as an experimental basis to develop new strategies for both prevention and trea…
An association analysis to identify genetic variants linked to asthma and rhinoconjunctivitis in a cohort of Sicilian children
2018
Abstract Asthma and rhino-conjunctivitis are common chronic diseases in childhood. In this cross-sectional study, we performed a gene association analysis with current asthma and rhino-conjunctivitis in a cohort of Sicilian children aged 10–15 years. Overall, our findings reveal the importance of different genetic variants at 4p14, 16p12.1, 17q12, 6p12.2 and 17q21.1, identifying possible candidate genes responsible for susceptibility to asthma and rhino-conjunctivitis.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019
VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved resid…