Carla Colombo

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Telomerase-reverse-transcriptase (TERT) promoter mutations have been recently described in tumors. In the present large series, TERT mutations were found in 12% of papillary thyroid cancers (PTCs) and in 14% of follicular thyroid cancers (FTCs), and were found to significantly correlate with older age at diagnosis and poorer outcome. Interestingly, the(More)
BACKGROUND Cystic fibrosis is a life-limiting disease that is caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is the most common CFTR mutation. METHODS We conducted two phase 3, randomized, double-blind, placebo-controlled studies that were designed to assess the effects of lumacaftor(More)
Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, with lung and liver manifestations. Because of pitfalls of gene therapy, novel approaches for reconstitution of the airway epithelium and CFTR expression should be explored. In the present study, human amniotic mesenchymal stem cells(More)
The clinical consequences of influenza are severe in cystic fibrosis (CF), but the impact of A/H1N1 virus infection remains poorly defined. 1 2 Pandemic influenza A/H1N1 started in Italy in September 2009 and CF patients were included among those at risk of complications and recommended to receive A/H1N1 vaccine. Better character-isation of the impact of(More)
Dysregulated inflammasome activation contributes to respiratory infections and pathologic airway inflammation. Through basic and translational approaches involving murine models and human genetic epidemiology, we show here the importance of the different inflammasomes in regulating inflammatory responses in mice and humans with cystic fibrosis (CF), a(More)
Nasopharyngeal swabs obtained from 78 pediatric patients with cystic fibrosis (CF), including 47 with acute pulmonary exacerbation and 31 in a stable clinical condition, were evaluated for 17 respiratory viruses. Human rhinovirus (HRV) was the most frequently detected virus in patients with pulmonary exacerbation and in those who were clinically stable(More)
The effects of different concentrations of exogenous platelet-activating factor (PAF) on the formation of arachidonic acid-cyclooxygenase metabolites and on the production of inositol phosphates have been investigated in a primary culture of rat astroglial cells. The cells were used at confluence and the purity was checked by immunostaining of the culture(More)
Resistance and tolerance mechanisms participate to the interplay between host and pathogens. IL-17-mediated response has been shown to be crucial for host resistance to respiratory infections, whereas its role in host tolerance during chronic airway colonization is still unclear. Here, we investigated whether IL-17-mediated response modulates mechanisms of(More)
BACKGROUND Hereditary medullary thyroid carcinoma (MTC) is caused by germ-line gain of function mutations in the RET proto-oncogene, and a phenotypic variability among carriers of the same mutation has been reported. We recently observed this phenomenon in a large familial MTC (FMTC) family carrying the RET-S891A mutation. Among genetic modifiers affecting(More)
T helper 9 (Th9) cells contribute to lung inflammation and allergy as sources of interleukin-9 (IL-9). However, the mechanisms by which IL-9/Th9 mediate immunopathology in the lung are unknown. Here we report an IL-9-driven positive feedback loop that reinforces allergic inflammation. We show that IL-9 increases IL-2 production by mast cells, which leads to(More)