Search results for "GENETICA"

Genetica umana ed altre biotecnologie nel diritto comunitario ed europeo

2004

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

Hunger and sustainability

2019

This paper examines the problem of world hunger and discusses potential solutions to it. It reflects on the debate about whether transgenic foods should be used, which is more of a social controversy than a scientific one. Sustainability is considered a key driver for innovation that can be used as a basis for assessing the problem of hunger in the world, and the question is inseparable from its ethical aspects. Given that economic growth does not directly equate to human development, this paper states that it is necessary to address the problem of poverty and hunger from the capacity development framework according to human rights. Poverty causes disability by limiting human development; i…

Genetically engineered V79 Chinese hamster cells metabolically activate the cytostatic drugs cyclophosphamide and ifosfamide.

1990

V79 cells, genetically engineered to express active cytochromes P450IIB1 and P450IA1, were used to study the cytotoxicity and mutagenicity of cyclophosphamide and ifosfamide. Cyclophosphamide, tested up to a concentration of 2 mM, was not cytotoxic in V79 nor in the P450IA1-expressing V79-derived cell line XEM2. Pronounced cytotoxicity was, however, observed in the P450IIB1-expressing V79-derived cell line SD1. Induction of gene mutations (acquisition of 6-thioguanine resistance) was observed in SD1 cells as well, but the effects were weak. Ifosfamide was inactive in V79 cells, but was cytotoxic in SD1 cells. Ifosfamide mustard, an active metabolite of ifosfamide, was equally cytotoxic and …

I vari modi del DNA di “parlare” ai viventi fra ciò che già è noto e nuove scoperte

2018

A sessant’anni da quando Francis Crick enunciò il “dogma centrale della biologia molecolare” molte scoperte e nuove frontiere si sono avvicendate sulla questione “funzionale” di un genoma, cioè di come un DNA “parla” ai viventi. Oggi è abbastanza noto come un genoma “è”, ed occuparsi solo di questa questione strutturale ormai è sicuramente molto riduttivo, almeno sicuramente per quello umano. È invece il goal standard di questi anni scoprire come e quando un genoma si esprime, come funzio-nalmente traduce il suo messaggio rendendo questo visibile nei fe-notipi dei viventi, a prescindere dalla sua sequenza primaria di basi azotate. Ne consegue che il codice genetico, ancora valido e quasi un…

NUTRIGENOMICS EFFECTS OF PHYTOCHEMICAL INDICAXANTHIN IN in vitro CELL SYSTEMS

2014

Nutrition plays a key role in many aspects of health, indeed epidemiological studies provide evidence that diet can play essential roles in reducing the risk of chronic diseases. Accumulating evidence indicates that dietary compounds (phytochemicals) from fruit and vegetables can modulate multiple cancer-inflammation pathways which are relevant for chemoprevention and are commonly deregulated by epigenetic mechanisms in cancer cells, including drug detoxification, cell cycle regulation, apoptosis induction. Epigenetic refers to heritable alterations in gene expression that do not involve modification of the underlying genetic DNA sequence. Although epigenetic changes are heritable in somati…

Estudio funcional del receptor de glucocorticoides en desarrollo y reparación epitelial

2013

Tesis doctoral; 181 páginas, ilustraciones. Este estudio se ha desarrollado en el Instituto de Biomedicina de Valencia (IBV-CSIC), bajo la dirección de la Dra. Paloma Pérez Sánchez

Absence of the endo-beta-1,4-glucanases Cel1 and Cel2 reduces susceptibility to Botrytis cinerea in tomato.

2007

Cel1 and Cel2 are members of the tomato (Solanum lycopersicum Mill) endo-beta-1,4-glucanase (EGase) family that may play a role in fruit ripening and organ abscission. This work demonstrates that Cel1 protein is present in other vegetative tissues and accumulates during leaf development. We recently reported the downregulation of both the Cel1 mRNA and protein upon fungal infection, suggesting the involvement of EGases in plant-pathogen interactions. This hypothesis was confirmed by assessing the resistance to Botrytis cinerea infection of transgenic plants expressing both genes in an antisense orientation (Anti-Cel1, Anti-Cel2 and Anti-Cel1-Cel2). The Anti-Cel1-Cel2 plants showed enhanced …

In vitroplant regeneration and gene transfer in the wild tomatoLycopersicon cheesmanii

2001

SummaryThis paper reports on protocols for in vitro plant regeneration, gene transfer and on shoot salt tolerance from two accessions of L. cheesmanii (Riley). Shoot organogenesis was achieved on media with zeatin or BA/IAA combinations. The two accessions tested, LA1401 and LA530, showed differences in both their aptitude to regenerate and their salt tolerance in vitro. The accession LA530 had a higher organogenic potential than LA1401 (97% vs. 80% of organogenic explants). In contrast, none of the LA530 isolated shoots rooted when cultured in full strength MS-modified medium supplemented with 200.mM NaCl while 93% of shoots from LA1401 formed roots. Finally, Agrobacterium-mediated transfo…

Molecular and agronomic responses to soil inoculation with plant-growth promoting rhizobacteria and arbuscular mycorrhizae in Triticum durum

2012

Plant-growth promoting rhizobacteria (PGPR) and arbuscular mycorrhizal (AM) fungi contribute to plant nutrient uptake by increasing the availability of nutrients and the root adsorbing surface. However, the molecular mechanisms of plant responses to these associations are still under-investigated. Gene expression analysis could lead to the identification of biomarkers usable to early select genotypes for an increased nutrient uptake efficiency. The main objective of this study was to determine the effects of these associations on plant total biomass and grain yield in durum wheat (cv. Anco Marzio). Secondly, we aimed to analyze the expression pattern of key genes involved in nutrient uptake…