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Search Results: 1 - 10 of 1884 matches for " Ivana Antonucci "
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Music in DNA: From Williams Syndrome to Musical Genes  [PDF]
Corrada Di Rosa, Filippo Cieri, Ivana Antonucci, Liborio Stuppia, Valentina Gatta
Open Journal of Genetics (OJGen) , 2015, DOI: 10.4236/ojgen.2015.51002
Abstract: Williams syndrome (WS) is a genetic disorder caused by a heterozygous contiguous gene deletion on chromosome 7q11.23. Clinical features of the disease include low IQ and deficit in some cog- nitive domains, and the presence of relatively strong abilities in social drive, face processing, language, and musical skills. The presence of a strong predisposition to the development of musicality in individuals affected by WS leads us to suppose that some genes deleted in this syndrome are somehow involved in the evolution of this ability, and that these genes could act in normal conditions as “suppressors of music ability”. To test this hypothesis, we carried out an “in silico” analysis by using the Ingenuity Pathway Analysis (IPA) software to identify the interaction between genes mapped in the WS critical region and genes previously related to musical ability by literature data. This approach allowed us to identify 3 networks of interaction, involving AVPR1A, NCF1, UNC5C and LAT2 in the first network, STX1A and SLC6A4 in the second one and only WS related genes in the last one. Among these associations, the one involving STX1A and SLC6A4 suggested a possible mechanism of interaction was based on the influence played by STX1A deletion on the serotonin levels through a decrease of SLC6A4 activity.
Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
Liborio Stuppia,Ivana Antonucci,Giandomenico Palka,Valentina Gatta
International Journal of Molecular Sciences , 2012, DOI: 10.3390/ijms13033245
Abstract: Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the presence of deletions or duplications of specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of genetic diseases characterized by the presence of abnormal DNA methylation. Due to the large number of genes that can be analyzed by a single technique, MLPA assay represents the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation. In this review, the main applications of the MLPA technique for the molecular diagnosis of human diseases are described.
Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion
Valentina Gatta, Florina Raicu, Alberto Ferlin, Ivana Antonucci, Anna Scioletti, Andrea Garolla, Giandomenico Palka, Carlo Foresta, Liborio Stuppia
BMC Genomics , 2010, DOI: 10.1186/1471-2164-11-401
Abstract: An intriguing and unexpected finding is that all the samples showing the AZFc deletion cluster together irrespectively of their testicular phenotypes. This cluster, including also four patients affected by idiopathic infertility, showed a downregulation of several genes related to spermatogenesis that are mainly involved in testicular mRNA storage. Interestingly, the four idiopathic patients present in the cluster showed no testicular expression of DAZ despite the absence of AZFc deletion in the peripheral blood.Our expression profiles analysis indicates that several forms of infertility can be triggered by a common pathogenic mechanism that is likely related to alterations in testicular mRNA storage. Our data suggest that a lack of testicular DAZ gene expression may be the trigger of such mechanism. Furthermore, the presence of AZFc deletions in mosaic or the loss of function of AZFc genes in absence of Yq deletion can perhaps explain these findings. Finally, based on our data, it is intriguing to hypothesize that DAZ gene dysfunctions can account for a larger number of previously thought "idiopathic" infertility cases and investigation of such testicular gene dysfunction can be important to reveal the molecular determinant of infertility than are undetected when only testing Yq deletions in peripheral blood.Microdeletions of the Y chromosome long arm (Yq) represent the main molecular determinants of male infertility and account for about 10% of cases of non obstructive azoospermia or severe hypospermatogenesis [1-5]. Yq microdeletions involve three Azoospermia Factors (AZF) loci, AZFa, AZFb and AZFc [6] and remove many genes likely involved in male germ cell development and maintenance [7]. The most frequent deletion of the Y chromosome (AZFc, b2/b4) spans 3.5 Mb and eliminates 21 genes and transcription units of the AZFc region. Among these, the main candidate for spermatogenesis failure is the Deleted in Azoospermia (DAZ) gene, a testis specific gene present in
Letter-labels su un pilastro a semicolonne dall’area a sud del Pretorio di Gortina Letter-labels su un pilastro a semicolonne dall’area a sud del Pretorio di Gortina
Alessandro Antonucci
Lanx , 2009, DOI: 10.6092/2035-4797/372
Abstract: A paleochristian or protobizantyne double half-column pillar from Gortys is object of epigraphic interest because both its bedding and its resting surfaces support one letter of the Greek alphabet (rho and phi). Paleographically, the two letters under discussion have no comparison in the Gortynian corpus. Probably our epigraphic documents have to be ascribed to the very wide epigraphic category of masons’s marks, and they could particularly fall within the subgroup of fitters’ marks.
Constraints on Disks Models of The Big Blue Bump from UV/Optical/IR Observations
Robert Antonucci
Physics , 1998,
Abstract: Optical/UV observations provide many constraints on accretion disk models of AGN which aren't always appreciated by modelers of the X-ray emission (or sometimes even of the optical/UV emission). The spectral behavior at the Ly edge, the polarization, the continuum slopes and breaks, and the variability timescales and phasing all conflict with simple models and strongly constrain the more Baroque ones. Partial-covering absorbers and microlensing data suggest that the radiation is not released simply according to where the potential drop (modified by standard viscous transport) takes place. On the other hand, the orientation-based unified model is in accord with the K-\alpha inclination distributions for the AGN spectral classes, basing the latter on the limited existing data and theoretical understanding.
Active Galactic Nuclei and Quasars: Why Still a Puzzle after 50 years?
Robert Antonucci
Physics , 2015,
Abstract: The first part of this article is a historical and physical introduction to quasars and their close cousins, called Active Galactic Nuclei (AGN). In the second part, I argue that our progress in understanding them has been unsatisfactory and in fact somewhat illusory since their discovery fifty years ago, and that much of the reason is a pervasive lack of critical thinking in the research community. It would be very surprising if other fields do not suffer similar failings.
Millimeter-Wave Spectroscopy and Mapping of Quasar Hosts, and the Status of ULIRGs as Quasar 2s
Robert Antonucci
Physics , 1998, DOI: 10.1016/S0273-1177(99)00227-6
Abstract: It is becoming possible to detect high redshift quasars in various molecular lines, and to show by mapping lensed objects that the strong dust and molecular emission arises in warm dense ~100 pc-scale "tori." The properties of ULIRGs, at least those with AGN-like narrow line regions, are very similar, as expected in the hidden quasar hypothesis. Several of the latter are in fact confirmed as "Quasar 2s" by spectropolarimetry.
Dubious Deductions from AGN Survey Data
Robert Antonucci
Physics , 2001,
Abstract: The participants in this meeting are almost all carrying out the hard work of making many different types of AGN surveys. Since it's so much easier to criticize other people's work than to do actual work myself, I'll just present some demurs regarding recent papers drawing conclusions from various AGN survey data. In particular I'll mention some questionable interpretations of surveys of Seyfert 2 near-UV polarization; interpreting the results of searches for polarized broad H-alpha lines in Seyfert 2s; testing the beam model for radio galaxies and quasars; testing the unification of Seyfert spectral types with a torus; and finally testing the energy sources for Ulirgs, especially those with Liner optical spectra. Only the polarized broad H-alpha results are examined in detail here.
Astrophysical Polarimetry of Cosmological Sources
Robert Antonucci
Physics , 2001,
Abstract: Kostelecky and Mewes have recently shown that sensitive constraints can be placed on some aspects of Lorentz symmetry violation using certain astronomical data on high-redshift sources. Here, I introduce that data in its astronomical context, making it clear that these data are robust and accurate for their purpose. In particular, I explain that spatially extended scattered light from obscured quasars leads to a centrosymmetric scattering polarization, with polarization position angle independent of wavelength. Evidentally, these relationships aren't spoiled by propagation effects as the photons cross the universe.
High Redshift Radio Galaxies at Low Redshift, and Some Other Issues
Robert Antonucci
Physics , 1998,
Abstract: Updates are provided on several issues related to Unified Models. A new HST spectrum of Cygnus A confirms the broad MgII emission line, and suggests a very large velocity width as seen in the polarized optical lines. Statistics of the 3CR sample are discussed, with emphasis on the role of mid-IR data to distinguish hidden quasars from "nonthermal AGN". A nearly diffraction-limited 10-micron Keck image of 3C390.3 reveals two point sources. A program of Keck longslit spectropolarimetry of distant radio galaxies, radio emitting BALs, and a red quasar is summarized. Most observations can be accounted for by the Unified Model, but the aligned radio galaxy 4C41.17 at Z=3.8 shows only unpolarized starlight. Finally far-IR, submillimeter, and molecular work on distant radio quiet quasars is described, including some details from the high resolution mapping of the Cloverleaf quad lens.
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