0000000000336384

AUTHOR

G. Condorelli

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Background LMNA/C mutations have been linked to the premature aging syndrome Hutchinson’s progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function. In this …

research product

Extensive electrical model of large area silicon photomultipliers

Abstract In this paper the full electrical model of silicon photomultipliers fabricated at STMicroelectronics Catania R&D clean room facilities is presented. An accurate investigation on both SiPM single microcell and entire SiPM structure to extrapolate all the electrical elements has been executed by means of dedicated characterizations carried out on appropriate layout structure. The electrical simulations results are compared to the experimental data showing a good fit and therefore verifying the accuracy of the proposed model. This model can be used to describe all the SiPMs with different sizes manufactured using the same technology. Moreover, starting from this extensive electrical m…

research product

Preliminary radiation hardness tests of single photon Si detectors

Single photon Si detectors were fabricated by STMicroelectronics and fully characterized in standard operation conditions and after irradiations. Both single cells and arrays, of dimensions ranging from 5x5 up to 64x64, were electrically tested. The devices operation was studied as a function of the temperature from -25 degrees C to 65 degrees C varying the voltage over breakdown, from 5% up to 20% of the breakdown voltage before and after irradiation using both light ions, 10 MeV B ions to doses in the range 3x10(7)-5x10(10) cm(-2), and X-rays irradiations in the range 0.5-20 krad(Si). Optical characterization was performed using a laser at 659 nm and opportunely chosen filters to vary the…

research product

PED/PEA-15 mediates AKT dependent chemoresistance in human breast cancer cells

Killing of tumor cells by cytotoxic therapies, such as chemotherapy or gamma-irradiation, is predominantly mediated by the activation of apoptotic pathways. Refractoriness to anticancer therapy is often due to a failure in the apoptotic pathway. The mechanisms that control the balance between survival and cell death in cancer cells are still largely unknown. Tumor cells have been shown to evade death signals through an increase in the expression of antiapoptotic molecules or loss of proapoptotic factors. We aimed to study the involvement of PED, a molecule with a broad antiapoptotic action, in human breast cancer cell resistance to chemotherapeutic drugs-induced cell death. We show that hum…

research product