The aim of this article is to synthetically describe the research projects that a selection of Italian univer- sities is undertaking in the context of big data. Far from being exhaustive, this article has the objectiv...The aim of this article is to synthetically describe the research projects that a selection of Italian univer- sities is undertaking in the context of big data. Far from being exhaustive, this article has the objective of offering a sample of distinct applications that address the issue of managing huge amounts of data in Italy, collected in relation to diverse domains.展开更多
Background:We are using genetics to identify genes specifically involved in hearing regeneration.In a large-scale genetic screening,we identified mgat5a,a gene in the N-glycosylation biosynthesis pathway whose activit...Background:We are using genetics to identify genes specifically involved in hearing regeneration.In a large-scale genetic screening,we identified mgat5a,a gene in the N-glycosylation biosynthesis pathway whose activity negatively impacts hair cell regeneration.Methods:We used a combination of mutant analysis in zebrafish and a hair cell regeneration assay to phenotype the loss of Mgat5a activity in zebrafish.We used pharmacological inhibition of N-glycosylation by swansonine.We also used over-expression analysis by mRNA injections to demonstrate how changes in N-glycosylation can alter cell signaling.Results:We found that mgat5a was expressed in multiple tissues during zebrafish embryo development,particularly enriched in neural tissues including the brain,retina,and lateral line neuromasts.An mgat5a insertional mutation and a CRISPR/Cas9-generated truncation mutation both caused an enhancement of hair cell regeneration which could be phenocopied by pharmacological inhibition with swansonine.In addition to hair cell regeneration,inhibition of the N-glycosylation pathway also enhanced the regeneration of lateral line axon and caudal fins.Further analysis showed that N-glycosylation altered the responsiveness of TGF-beta signaling.Conclusions:The findings from this study provide experimental evidence for the involvement of N-glycosylation in tissue regeneration and cell signaling.展开更多
Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic activities. Ob-jectives: We aimed to analyze the usefulness of DBS sampl...Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic activities. Ob-jectives: We aimed to analyze the usefulness of DBS samples for diagnosis of 4 LSDs, with the availability of a large quantity of patient samples. Design and methods: Blood samples from previously diagnosed patients with Fabry, Gaucher, Hunter, and Maro-teaux-Lamy syndromes and normal control individ-uals, were collected and dispen-sed in filter paper, and used for enzymatic activity determination. Results: Diagnosis of hemi/homo-zygous patients with Fabry, Hunter and Maroteaux-Lamy diseases using DBS samples showed ideal parameters of 100% sensitivity and specificity. DBS assay for Gaucher disease would need a posterior confirmatory step. Conclusions: Leukocyte measu-rement is the only reliable way to diagnose Gaucher disease. For Hunter, Fabry and Maroteaux-Lamy disorders discrimination between patients and controls seems adequate by DBS.展开更多
In large animal research, when frequent sampling of arterial blood is needed, the carotid artery transposition is the most used technique. The objective of this paper is to describe a new technique for carotid artery ...In large animal research, when frequent sampling of arterial blood is needed, the carotid artery transposition is the most used technique. The objective of this paper is to describe a new technique for carotid artery transposition in sheep and evaluate its effectiveness using the echo-Doppler ultrasound. The animals enrolled in this study had their carotid surgically elevated to the subcutaneous level, by suturing underneath muscles sternocephalic and brachiocephalic. None of the animals that underwent the procedure in this study had trans- or postoperative complications. Six months after the suture removal, all animals presented patent ca-rotids by echo-Doppler ultrasound. This is an easy and safe procedure for carrying out experiments that re-quire the collection of arterial blood.展开更多
文摘The aim of this article is to synthetically describe the research projects that a selection of Italian univer- sities is undertaking in the context of big data. Far from being exhaustive, this article has the objective of offering a sample of distinct applications that address the issue of managing huge amounts of data in Italy, collected in relation to diverse domains.
基金This research was supported by the Intramural Research Program of the National Human Genome Research Institute(ZIAHG200386-05).
文摘Background:We are using genetics to identify genes specifically involved in hearing regeneration.In a large-scale genetic screening,we identified mgat5a,a gene in the N-glycosylation biosynthesis pathway whose activity negatively impacts hair cell regeneration.Methods:We used a combination of mutant analysis in zebrafish and a hair cell regeneration assay to phenotype the loss of Mgat5a activity in zebrafish.We used pharmacological inhibition of N-glycosylation by swansonine.We also used over-expression analysis by mRNA injections to demonstrate how changes in N-glycosylation can alter cell signaling.Results:We found that mgat5a was expressed in multiple tissues during zebrafish embryo development,particularly enriched in neural tissues including the brain,retina,and lateral line neuromasts.An mgat5a insertional mutation and a CRISPR/Cas9-generated truncation mutation both caused an enhancement of hair cell regeneration which could be phenocopied by pharmacological inhibition with swansonine.In addition to hair cell regeneration,inhibition of the N-glycosylation pathway also enhanced the regeneration of lateral line axon and caudal fins.Further analysis showed that N-glycosylation altered the responsiveness of TGF-beta signaling.Conclusions:The findings from this study provide experimental evidence for the involvement of N-glycosylation in tissue regeneration and cell signaling.
文摘Introduction: Lysosomal storage disorders (LSD) are inherited diseases caused, in the majority of them, by the deficiency of lysosomal enzymatic activities. Ob-jectives: We aimed to analyze the usefulness of DBS samples for diagnosis of 4 LSDs, with the availability of a large quantity of patient samples. Design and methods: Blood samples from previously diagnosed patients with Fabry, Gaucher, Hunter, and Maro-teaux-Lamy syndromes and normal control individ-uals, were collected and dispen-sed in filter paper, and used for enzymatic activity determination. Results: Diagnosis of hemi/homo-zygous patients with Fabry, Hunter and Maroteaux-Lamy diseases using DBS samples showed ideal parameters of 100% sensitivity and specificity. DBS assay for Gaucher disease would need a posterior confirmatory step. Conclusions: Leukocyte measu-rement is the only reliable way to diagnose Gaucher disease. For Hunter, Fabry and Maroteaux-Lamy disorders discrimination between patients and controls seems adequate by DBS.
文摘In large animal research, when frequent sampling of arterial blood is needed, the carotid artery transposition is the most used technique. The objective of this paper is to describe a new technique for carotid artery transposition in sheep and evaluate its effectiveness using the echo-Doppler ultrasound. The animals enrolled in this study had their carotid surgically elevated to the subcutaneous level, by suturing underneath muscles sternocephalic and brachiocephalic. None of the animals that underwent the procedure in this study had trans- or postoperative complications. Six months after the suture removal, all animals presented patent ca-rotids by echo-Doppler ultrasound. This is an easy and safe procedure for carrying out experiments that re-quire the collection of arterial blood.
