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Ultra High Throughput Sequencing in Human DNA Variation Detection: A Comparative Study on the NDUFA3-PRPF31 Region
Paola Benaglio,Carlo Rivolta
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0013071
Abstract: Ultra high throughput sequencing (UHTS) technologies find an important application in targeted resequencing of candidate genes or of genomic intervals from genetic association studies. Despite the extraordinary power of these new methods, they are still rarely used in routine analysis of human genomic variants, in part because of the absence of specific standard procedures. The aim of this work is to provide human molecular geneticists with a tool to evaluate the best UHTS methodology for efficiently detecting DNA changes, from common SNPs to rare mutations.
Abandono y reutilización de sitios: La problemática de los contextos habitacionales en quebrada de Humahuaca
Rivolta,María Clara;
Estudios atacame?os , 2007, DOI: 10.4067/S0718-10432007000200003
Abstract: we discuss the processes of abandonment and reuse of the residential sectors in quebrada de humahuaca, and define their causes and the moments they took place at the regional level, by assessing enclosure variability conditions in a single site. within this framework, we studied banda de perchel, a domestic terrace site where where we excavated two contiguous enclosures, observing substantial differences in terms of reiterated use in the first, and only partial use in the second, as defined by the perimetrical wall.
Nuevos avances en las prospecciones arqueológicas en la Quebrada de los Cardones
Rivolta,Gustavo M.;
Cuadernos de la Facultad de Humanidades y Ciencias Sociales. Universidad Nacional de Jujuy , 2005,
Abstract: in this paper to be inform over the result of archaeology prospections realizated at the "los cardones" ravine, located in the east of yocavil valley, in the tucuman province. to be prospections sites belonging at the stage of the regional developments. was effect surveys architectonics and planoaltimetric of the totality structures of one site the residential use, called los cardones, to be find summoned in the slopes and top of one hill, located in the left bank of amaicha river. were prospections the extensive cones footmountains until the low sectors near in the right bank of amaicha river, and to be documentated the structures, agricultural basicament, that ocupated different places on landscape. the abundant information collected permit to infer the articulation and organization the spase in the ravine, elaborated hypothesis over the differential utilization the distintc bounds in the zone of study. the model proposals classify the tipes of the structures, yours functionality possibles, the characteristic of the lanscape in that to be encounter seateds and your relations with the resources.
Abandono y reutilización de sitios: La problemática de los contextos habitacionales en quebrada de Humahuaca
María Clara Rivolta
Estudios Atacame?os , 2007,
Abstract: Se discuten los procesos de abandono y reutilización en sectores residenciales de quebrada de Humahuaca (Jujuy, Argentina), definiendo las causas y los momentos en los que estos procesos tuvieron lugar a nivel regional, así como la variación en las condiciones que pueden presentar los contextos habitacionales en un mismo sitio. De acuerdo a esto, consideramos el caso de las terrazas domésticas de Banda de Perchel, en el cual se efectuaron excavaciones en dos recintos contiguos, observando diferencias sustanciales en términos de un uso reiterado en uno de los casos asociado a otro con utilización parcial del espacio, definido por el muro perimetral. We discuss the processes of abandonment and reuse of the residential sectors in quebrada de Humahuaca, and define their causes and the moments they took place at the regional level, by assessing enclosure variability conditions in a single site. Within this framework, we studied Banda de Perchel, a domestic terrace site where where we excavated two contiguous enclosures, observing substantial differences in terms of reiterated use in the first, and only partial use in the second, as defined by the perimetrical wall.
Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
Koji M. Nishiguchi, Carlo Rivolta
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0041902
Abstract: Background Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mutations. In this study we estimate the proportion of these individuals within the general population, via the analyses of data from whole-genome sequencing. Methodology/Principal Findings We screened complete and high-quality genome sequences from 46 control individuals from various world populations for HRD mutations, using bioinformatic tools developed in-house. All mutations detected in silico were validated by Sanger sequencing. We identified clear-cut, null recessive HRD mutations in 10 out of the 46 unaffected individuals analyzed (~22%). Conclusions/Significance Based on our data, approximately one in 4–5 individuals from the general population may be a carrier of null mutations that are responsible for HRD. This would be the highest mutation carrier frequency so far measured for a class of Mendelian disorders, especially considering that missenses and other forms of pathogenic changes were not included in our assessment. Among other things, our results indicate that the risk for a consanguineous couple of generating a child with a blinding disease is particularly high, compared to other genetic conditions.
María Clara Rivolta,Rossana Elizabeth Ledesma
Andes , 2009,
The effect of nanoparticle uptake on cellular behavior: disrupting or enabling functions?
Panariti A,Miserocchi G,Rivolta I
Nanotechnology, Science and Applications , 2012,
Abstract: Alice Panariti, Giuseppe Miserocchi, Ilaria RivoltaDepartment of Experimental Medicine, University of Milano Bicocca, Monza, ItalyAbstract: Nanoparticles (NPs) are materials with overall dimensions in the nanoscale range. They have unique physicochemical properties, and have emerged as important players in current research in modern medicine. In the last few decades, several types of NPs and microparticles have been synthesized and proposed for use as contrast agents for diagnostics and imaging and for drug delivery; for example, in cancer therapy. Yet specific targeting that will improve their delivery still represents an unsolved challenge. The mechanism by which NPs enter the cell has important implications not only for their fate but also for their impact on biological systems. Several papers in the literature discuss the potential risks related to NP exposure, and more recently the concept that even sublethal doses of NPs may elicit a cell response has been proposed. In this review, we intend to present an overall view of cell mechanisms that may be perturbed by cell–NP interaction. Published data, in fact, emphasize that NPs should no longer be viewed only as simple carriers for biomedical applications, but that they can also play an active role in mediating biological effects.Keywords: nanoparticles, uptake, intracellular trafficking, bio compatibility
Remodelling of Membrane Rafts Expression in Lung Cells as an Early Sign of Mechanotransduction-Signalling in Pulmonary Edema
Paola Palestini,Laura Botto,Ilaria Rivolta,Giuseppe Miserocchi
Journal of Lipids , 2011, DOI: 10.1155/2011/695369
Abstract: Membrane rafts (MRs) are clusters of lipids, organized in a “quasicrystalline” liquid-order phase, organized on the cell surface and whose pattern of molecules and physicochemical properties are distinct from those of the surrounding plasma membrane. MRs may be considered an efficient and fairly rapid cell-activated mechanism to express or mask surface receptors aimed at triggering specific response pathways. This paper reports observations concerning the role of MRs in the control of lung extravascular water that ought to be kept at minimum to assure gas diffusion, supporting the hypothesis that MRs expression is a potential mechanism of sensing minor changes in the volume of extravascular water. We present the evidence that MRs expression specifically relates to signal-transduction processes evoked by mechanical stimuli arising in the interstitial lung compartment when a small increase in extravascular volume occurs. We further hypothesize that a differential expression of MRs might also reflect the damage to precise components of the extracellular matrix caused by the perturbation in water balance and thus can trigger a molecule-oriented specific matrix remodelling. 1. Introduction Membrane rafts (MRs) represent specialized portions of the cell plasma membrane involved in the signalling response to incoming stimuli. In fact, MRs may be considered an efficient and fairly rapid system to express or mask surface receptors to activate specific intracellular response pathways. MRs have been described in two forms, either flat portions of plasma membrane, named lipid rafts, or flask-like of about 70?nm in diameter, named caveolae. The latter, besides representing a receptor platform, also constitutes a potential transcellular fluid carrier through transcytosis. This paper reports observations concerning the potential role of MRs in mechano-sensitive signalling in the control of lung extravascular water, a key point in the respiratory function. Indeed, the volume of the extravascular water ought to be kept at minimum [1] in order to assure the maximum efficiency of the air-blood barrier in the gas diffusion mechanisms. In fact, we were able to describe how the expression of MRs in pulmonary cells is modified when a perturbation of extravascular lung water is caused either by saline infusion (so-called cardiogenic model of lung edema, (CE)) or exposure to hypoxia (HE) [2]. Finally, we will discuss our results considering the phenotype of animals genetically deprived of an important protein present in caveolae, namely, Cav-1. 2. Membrane Rafts The pioneering
Epifanio Burgos: aproximaciones al estudio de la organización del espacio residencial en un sitio del Valle Calchaquí Norte
Yazlle,Luciana; Cabral,Jorge E.; Rivolta,M. Clara;
Andes , 2009,
Abstract: the objective of the present contribution is to present the results obtained from the planimetric layout and excavations made in epifanio burgos (ssalcac170), located approximately to 8 km to the northwest of cachi, in north calchaquí valley, salta province. this site, is located on a slope on the right margin of the quebrada de las arcas, presenting a series of particular characteristics. the location stands out by the coexistence of dispersed knolls throughout a series of circular structures surrounded by a perimetral wall towards the south, as well as by the presence of some rectangular structures, whose constructive characteristics differ substantially from the previous ones.these characteristics, associated to the remarkable variability of material found in surface, among them, ceramics fragments monochrome (gray, and black), similar to which characterizes the formative sites of the area, allow to tentatively locate to epifanio burgos like a site pertaining to the final moments of the formative period and beginnings of the regional developments in north calchaquí valley
Artificial neural-network technique for precipitation nowcasting from satellite imagery
G. Rivolta, F. S. Marzano, E. Coppola,M. Verdecchia
Advances in Geosciences (ADGEO) , 2006,
Abstract: The term nowcasting reflects the need of timely and accurate predictions of risky situations related to the development of severe meteorological events. In this work the objective is the very short term prediction of the rainfall field from geostationary satellite imagery entirely based on neural network approach. The very short-time prediction (or nowcasting) process consists of two steps: first, the infrared radiance field measured from geostationary satellite (Meteosat 7) is projected ahead in time (30 min or 1 h); secondly, the projected radiances are used to estimate the rainfall field by means of a calibrated microwave-based combined algorithm. The methodology is discussed and its accuracy is quantified by means of error indicators. An application to a satellite observation of a rainfall event over Central Italy is finally shown and evaluated.
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