Institution
University of Siena
Education•Siena, Italy•
About: University of Siena is a education organization based out in Siena, Italy. It is known for research contribution in the topics: Population & Cancer. The organization has 12179 authors who have published 33334 publications receiving 1008287 citations. The organization is also known as: Università degli studi di Siena & Universita degli studi di Siena.
Topics: Population, Cancer, Large Hadron Collider, Sperm, Oxidative stress
Papers published on a yearly basis
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TL;DR: Four different mutations in the cystatin B gene are identified, the most common of which consists of an unstable ∼600–900 bp insertion which is resistant to PCR amplification and may arise via a novel mechanism related to the instability of tandemly repeated sequences.
Abstract: Progressive myoclonus epilepsy type 1 (EPM1, also known as Unverricht-Lundborg disease) is an autosomal recessive disorder characterized by progressively worsening myoclonic jerks, frequent generalized tonic-clonic seizures, and a slowly progressive decline in cognition1. Recently, two mutations in the cystatin B gene (also known as stefin B, STFB) mapping to 21q22.3 have been implicated in the EPM1 phenotype: a G→C substitution in the last nucleotide of intron 1 that was predicted to cause a splicing defect in one family, and a C→T substitution that would change an Arg codon (CGA) to a stop codon (TGA) at amino acid position 68, resulting in a truncated cystatin B protein in two other families2. A fourth family showed undetectable amounts of STFB mRNA by northern blot analysis in an affected individual. We present haplotype and mutational analyses of our collection of 20 unrelated EPM1 patients and families from different ethnic groups. We identify four different mutations, the most common of which consists of an unstable ∼600–900 bp insertion which is resistant to PCR amplification. This insertion maps to a 12-bp polymorphic tandem repeat located in the 5' flanking region of the STFB gene, in the region of the promoter. The size of the insertion varies between different EPM1 chromosomes sharing a common haplotype and a common origin, suggesting some level of meiotic instability over the course of many generations. This dynamic mutation, which appears distinct from conventional trinucleotide repeat expansions, may arise via a novel mechanism related to the instability of tandemly repeated sequences.
175 citations
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TL;DR: Differences in the morphology and ecophysiology of mosses and lichens indicate that these organisms cannot be used interchangeably as biomonitors of metals in areas with mineral deposits.
174 citations
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TL;DR: The results show that the gemcitabine + FOLFOX-4 polychemotherapy regimen has strong immunologic and antitumor activity in colorectal cancer patients and deserves to be investigated in phase III trials.
Abstract: Purpose Tumor cell killing by anticancer drugs may be supported by their immuno- and pharmacologic effects. Chemotherapy is in fact able to (A) upregulate tumor-associated antigen expression, including carcinoembryonic antigen (CEA) or other target molecules such as thymidylate synthase (TS); and (B) downregulate tumor cell resistance to the death signals induced by tumor antigen–specific cytotoxic T lymphocytes. This provides the rationale for combining chemo- and immunotherapy. Materials and Methods We describe the results of a translational phase II trial designed to evaluate the toxicity, antitumor activity and immunologic effects of gemcitabine + FOLFOX-4 (oxaliplatin, fluorouracil, and folinic acid) polychemotherapy followed by the subcutaneous administration of granulocyte macrophage colony-stimulating factor and low-dose interleukin-2 in colorectal carcinoma patients. The study involved 29 patients (16 males and 13 females with a mean age of 69 years), 21 of whom had received a previous line of tr...
174 citations
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TL;DR: In this paper, the optimal control problem of a quarter-car semi-active suspension has been studied in the past, and the authors attempt to answer the following questions: Does the saturated version of optimal control law remain optimal for the constrained case, or should the optimal deviate from the "clipped-optimal" as suggested in other publications?
Abstract: The optimal control problem of a quarter-car semi-active suspension has been studied in the past. Considering that a quarter-car semi-active suspension can either be modelled as a linear system with state dependent constraint on control (of actuator force) input, or a bi-linear system with a control (of variable damping coefficient) saturation, the seemingly simple problem poses several interesting questions and challenges. Does the saturated version of the optimal control law derived from the corresponding un-constrained system, i.e. “clipped-optimal”, remain optimal for the constrained case as suggested in some previous publications? Or should the optimal deviate from the “clipped-optimal” as suggested in other publications? If the optimal control law of the constrained system does deviate from its unconstrained counter-part, how different are they? What is the structure of the optimal control law? Does it retain the linear state feedback form (as the unconstrained case)? In this paper, we attempt to an...
174 citations
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TL;DR: The observed physiological and behavioral effects implicate RyR3‐mediated Ca2+ release in the intracellular processes underlying spatial learning and hippocampal synaptic plasticity.
Abstract: Deletion of the ryanodine receptor type 3 (RyR3) results in specific changes in hippocampal synaptic plasticity, without affecting hippocampal morphology, basal synaptic transmission or presynaptic function. Robust long-term potentiation (LTP) induced by repeated, strong tetanization in the CA1 region and in the dentate gyrus was unaltered in hippocampal slices in vitro, whereas weak forms of plasticity generated by either a single weak tetanization or depotentiation of a robust LTP were impaired. These distinct physiological deficits were paralleled by a reduced flexibility in re- learning a new target in the water-maze. In contrast, learning performance in the acquisition phase and during probe trial did not differ between the mutants and their wild-type littermates. In the open-field, RyR3 -/- mice displayed a normal exploration and habituation, but had an increased speed of locomotion and a mild tendency to circular running. The observed physiological and behavioral effects implicate RyR3- mediated Ca 21 release in the intracellular processes underlying spatial learning and hippocampal synaptic plasticity.
174 citations
Authors
Showing all 12352 results
Name | H-index | Papers | Citations |
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Johan Auwerx | 158 | 653 | 95779 |
I. V. Gorelov | 139 | 1916 | 103133 |
Roberto Tenchini | 133 | 1390 | 94541 |
Francesco Fabozzi | 133 | 1561 | 93364 |
M. Davier | 132 | 1449 | 107642 |
Roberto Dell'Orso | 132 | 1412 | 92792 |
Rino Rappuoli | 132 | 816 | 64660 |
Teimuraz Lomtadze | 129 | 893 | 80314 |
Manas Maity | 129 | 1309 | 87465 |
Dezso Horvath | 128 | 1283 | 88111 |
Paolo Azzurri | 126 | 1058 | 81651 |
Vincenzo Di Marzo | 126 | 659 | 60240 |
Igor Katkov | 125 | 972 | 71845 |
Ying Lu | 123 | 708 | 62645 |
Thomas Schwarz | 123 | 701 | 54560 |