24 research outputs found
Farmers’ participation in territorial planning: a methodological approach for the case study of Huerta de Valencia
No full textParticipation in planning has become progressively important in territory management.
As regards Territorial Planning, farmers are among the main stakeholders. In fact multifunctionality
of agriculture admits a new role to primary sector. In particular the management of open areas is
particularly strategic in peri-urban areas, where competition for resources is highest than in other
areas, especially for the land. In this context, the involvement of farmers as privileged stakeholders
to land management is even more important. This paper proposes a methodological approach for the
evaluation of peri-urban land use plans by farmers, by means of direct surveys on a sample of
Spanish farmers. In particular, it has been considered the "Territorial Action Plan of Valencia’s Huerta” (TAPVH)
Susceptibility to entomopathogens and modulation of basal immunity in two insect models at different temperatures.
No full textAbstract In this work, we analysed the efficacy of different commercial bio-insecticides (Steinernema feltiae, Steinernema carpocapsae, Heterorhabditis bacteriophora and Bacillus thuringiensis) by valuating the mortality induced on two insect models, Galleria mellonella (Lepidoptera) and Sarcophaga africa (Diptera) after exposure to different temperatures (10, 20 and 30 °C). Moreover, we investigated the effects of temperature on the basal humoral immunity of the two target insects; particularly, phenoloxidase (PO) and lysozyme activity. Our results show that G. mellonella is susceptible to all bio-insecticides at all the examined temperatures, except when infected at 10 °C with S. carpocapsae and at 30 °C with S. feltiae and B. thuringiensis. S. africa is more susceptible at 30 °C to all bioinsecticides; whereas, when infected at 10 and 20 °C, H. bacteriophora is the most efficient. Temperature modulates PO activity of both G. mellonella and S. africa, otherwise variations in lysozyme activity is observed only in G. mellonella. Except for a possible correlation between the increased lysozyme activity and the delayed Bt efficacy recorded on G. mellonella at 30 °C, a different resistance to bio-insecticides at different temperatures does not seem to be associated to variations of the host basal immunity, probably due to immunoevasive and immunodepressive strategies of these entomopathogens
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
No full textABSTRACT
Background RubinsteineTaybi syndrome (RSTS) is
a congenital neurodevelopmental disorder defined by
postnatal growth deficiency, characteristic skeletal
abnormalities and mental retardation and caused by
mutations in the genes encoding for the transcriptional
co-activators with intrinsic lysine acetyltransferase (KAT)
activity CBP and p300. Previous studies have shown that
neuronal histone acetylation is reduced in mouse models
of RSTS.
Methods The authors identified different mutations at
the CREBBP locus and generated lymphoblastoid cell
lines derived from nine patients with RSTS carrying
distinct CREBBP mutations that illustrate different grades
of the clinical severity in the spectrum of the syndrome.
They next assessed whether histone acetylation levels
were altered in these cell lines.
Results The comparison of CREBBP-mutated RSTS cell
lines with cell lines derived from patients with an
unrelated mental retardation syndrome or healthy
controls revealed significant deficits in histone
acetylation, affecting primarily histone H2B and histone
H2A. The most severe defects were observed in the lines
carrying the whole deletion of the CREBBP gene and the
truncating mutation, both leading to a haploinsufficiency
state. Interestingly, this deficit was rescued by treatment
with an inhibitor of histone deacetylases (HDACi).
Conclusions The authors’ results extend to humans the
seminal observations in RSTS mouse models and point to
histone acetylation defects, mainly involving H2B and
H2A, as relevant molecular markers of the disease
N-deacetyl-N-aminoacylthiocolchicine derivatives: Synthesis and biological evaluation on MDR-positive and MDR-negative human cancer cell lines
No full textA new series of N-deacetyl-N-(N-trifluoroacetylaminoacyl)thiocolchicine derivatives 9-15 have been synthesized starting from the corresponding N- deacetylthiocolchicine (3) and the N-trifluoroacetylamino acids 5-8 which were used as a racemic mixture. The trifluoroacetyl protecting group has been removed easily, giving the corresponding N-deacetyl-N- aminoacylthiocolchicines 16-22. Optical pure compounds 9-22 were isolated from the diastereoisomeric mixture or were prepared starting from compound 3 and an optical pure amino acid derivative; the configuration of each compound was assigned unequivocally. The diastereoisomeric couples of amino acids synthesized were tested, and their antiproliferative activity on MDR-positive and MDR-negative human cancer cell lines was evaluated
Reazioni di glicosidazione e sintesi di glicosidi a potenziale attivita biologica
No full textDottorato di ricerca in chimica del farmaco. 8. ciclo. A.a. 1992-95. Relatore D. Pocar. Coordinatore G. CignarellaConsiglio Nazionale delle Ricerche - Biblioteca Centrale - P.le Aldo Moro, 7, Rome; Biblioteca Nazionale Centrale - P.za Cavalleggeri, 1, Florence / CNR - Consiglio Nazionale delle RichercheSIGLEITItal
Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34+38- compartment
No full textThe t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT mutation, is a model system for leukemogenesis. As AML initiating cells reside in the CD34(+)CD38(-) fraction, we addressed the refined cytogenomic characterization and miRNA expression of Kasumi-1 cell line and its FACS-sorted subpopulations focussing on this compartment. By conventional cytogenetics, Spectral-Karyotyping and array-CGH the cytogenomic profile of Kasumi-1 cells evidenced only subtle regions differentially represented in CD34(+)CD38(-) cells. Expression profiling by a miRNA platform showed a set of miRNA differentially expressed in paired subpopulations and the signature of miR-584 and miR-182 upregulation in the CD34(+)CD38(-) fraction
High frequency of mosaic CREBBP deletions in RSTS patients and mapping of somatic and germline breakpoints
No full textRubinstein-Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the CREBBP and EP300 genes accounting for up to 60% and 3% of the tested patients, respectively. About 10% of CREBBP mutations are deletions, often extending to flanking regions, with scattered breakpoints. By FISH and microsatellite analyses as first step of CREBBP mutation screening we identified in 60 Italian RSTS patients, six deletions, three of which present in a mosaic condition, a finding yet unreported. Using BAC clones and small-sized CREBBP- probes we could assess the extent of all deletions.
Only two of the twelve breakpoints were found to encompass the same region, confirming the heterogeneity in size and boundaries of CREBBP deletions. However four of our five intragenic breakpoints clustered to the 5’ end of CREBBP, around exon 2, where a peak breakpoints underlying rearrangements in RSTS patients and tumors is apparent too. The search of genomic motifs did not evidence LCRs, as expected by the lack of a recurrent RSTS. By contrast, the percentage of interspersed repetitive elements, mainly Alu and LINEs is in the smaller 5’CREBBP region around exon 2 significantly higher than that in the entire gene or the average in the genome suggesting this feature might be implicated in the vulnerability of the region to breaking. Search of EP300 microdeletions was also afforded by FISH , but no deletion carrier was identified among CREBBP-negative cases, pointing to a minor role of this second gene in the aetiology of RSTS. As to genotype phenotype correlation the clinical presentation was typical in all cases, although more severe in the three patients carrying constitutional deletions, raising.the issue of possible underdiagnosis of a subset of mild RSTS patients. No apparent correlations were observed between increase in the deletion size, from150 Kb to 2.6 Mb, and more severe phenotypic spectrum in the three patients carrying constitutional deletions
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
No full textCHROMOSOMAL IMBALANCES IN RUBINSTEIN-TAYBI PATIENTS NEGATIVE TO CREBBP MUTATIONAL TEST
No full textRubinstein-Taybi syndrome (RSTS, OMIM #180849) is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation and psychomotor developmental delay, skeletal anomalies and specific facial dysmorphisms. RSTS is associated with chromosomal microdeletion or point mutations of CREBBP gene in 16p13.3 and mutations of EP300 gene in 22q13, observed in 56% and 3% of the tested patients respectively.
Here we report the identification by a-CGH of duplications/deletions in 6 of 25 RSTS patients found negative to point mutations of CREBBP and to chromosomal rearrangements affecting CREBBP and EP300 regions. The imbalances are: i) a de novo 9Mb deletion in 2q24.3q31.1 involving the HOXD genes, ii) a 5,5 Mb duplication in 2q34q35 inherited by the healthy father, probably representing a private CNV, iii) a 500Kb duplication in 17q11.2 upstream the NF1 gene in a region delimited by NF1 REP-P1/P2 iv) a 1,2Mb deletion in 18q21.33q22.1 harbouring one gene, v) a 4,3Mb deletion in 2q22.3q23.1 involving five genes among which ZFHX1B, the gene mutated in Mowat-Wilson, vi) a 466Kb deletion in 7p21.1 containing TWIST1, a proposed candidate for RSTS. The parental origin, gene content and genomic characterization of the last four imbalances is in progress. Although the pathogenetic role is yet unproven in a few cases, this study shows a high fraction of chromosomal rearrangements in regions other than those of CREBBP/EP300 genes. In addition a-CGH is confirmed to be a suitable approach for diagnostic purposes and to highlight novel positional RSTS candidate genes
