2,254 research outputs found
Carra...
No full textPages from various auction catalogs describing items or books that related to aeronautics or flying, including reproduced prints from Jean-Louis Carra's treatise "Essai sur la Nautique aérienne, contenant l'art de diriger les Ballons aérostatiques à volonté, & d'accélérer leur course dans les plaines de l'air...," Owen Cambridge's satirical poem "The Scribleriad," and "The Life and Adventures of Peter Wilkins" by Robert Paltock.For more information about this item, visit https://archivesspace.mit.edu/repositories/2/digital_objects/64
Nucleolus: A Liquid Droplet Compartment for Misbehaving Proteins
No full textA new study reports an unexpected function of the nucleolus as a protein quality control compartment for misfolded and aggregation-prone proteins. These findings have important implications for protein misfolding diseases
Differential expression of circular RNAs in a mouse model of autism spectrum disorders
No full textAutism spectrum disorder (ASD) comprises a heterogeneous group of pervasive developmental disabilities characterized by compromised social interactions and communication skills, and by restrictive and repetitive behaviors. Emerging evidence suggests the involvement of non-coding RNAs (ncRNAs) in the pathophysiology of ASD. circRNAs arisen in the last decades as a novel class of ncRNAs and recent reports have shown their implication in the pathogenesis of several human neurological diseases. circRNAs are endogenous stable molecules, characterized by a covalently closed structure resulting from a backpslicing reaction. They are evolutionary conserved, abundant and significantly enriched in the brain. Although the biological function is still unknown, specific circRNAs are regulated by neuronal activity and have been implicated in plasticity mechanisms.
In this study, we present the expression profile of circRNAs in the hippocampus of BTBR T + tf/J (BTBR) mouse model for Autism Spectrum Disorder (ASD), compared to age-matched C57BL/6J (B6) mice. We identified several circRNAs whose expression is consistently altered, and 12 circRNAs and their corresponding linear counterparts were validated by RT-qPCR analysis. The ASD-related circCdh9 and circRmst have been further characterized in terms of molecular structure and expression. To evaluate their functional role in a physiological context, we characterized their expression during mouse development, neuronal differentiation and homeostatic plasticity. Interestingly, our results suggest a possible involvement of circCdh9 and circRmst in brain development and neuronal differentiation. Moreover, to comprehensively investigate the transcriptomic profile of the hippocampus of BTBR mice, we analyzed the gene and miRNA expression patterns. We performed enrichment analysis of BTBR differentially expressed RNA species and found interesting biological and molecular pathways associated to ASD phenotype. Lastly, we compared the circRNAs and gene expression profiles and we identified 6 genes highly modulated as circular and linear isoforms, indicative of a low correlation in the expression of circRNAs and their host genes.
In conclusion, our study has identified and analyzed differentially expressed circRNAs in the BTBR hippocampus, and we deepen characterized two ASD-associated circRNAs candidates. By integrating the circRNAs and gene expression profiles, we found a coregulation in the expression of specific genes ASD related. Moreover, we explored for the first time the miRNA expression profile in the hippocampus of BTBR mice, and we found 18 significantly modulated miRNAs. Functional studies are in progress to shed more light on the physiological function of circCdh9 and circRmst and their putative role in the pathophysiology of ASD
Thermal effects on geometrically nonlinear vibrations of rectangular plates with fixed ends.
No full textPML nuclear bodies: new players in familial amyotrophic lateral sclerosis-frontotemporal dementia?
No full textAbsence of D147E mutation of CYP11B2 gene in hypertensive patients with increased corticosterone and aldosterone production.
No full textAbsence of D147E mutation of CYP11B2 gene in hypertensive patients with increased corticosterone and aldosterone production.
Mulatero P1, Glorioso N, Fallo F, Soro A, Morra di Cella S, Carra R, Filigheddu F, Veglio F.
Author information
Abstract
OBJECTIVE:
11beta-Hydroxylase and aldosterone synthase are two highly homologous genes involved in different forms of human hypertension and in different animal models of hypertension. It has been shown that the conservative substitution D147E in the human CYP11B2 gene results in an increased production of corticosterone and aldosterone in vitro. A gene conversion between the CYP11B1 and CYP11B2 genes could be responsible for such a substitution.
METHODS:
In this study we investigated the presence of the mutation D147E of CYP11B2 in a group of 128 patients with primary aldosteronism, 68 patients with essential hypertension and increased corticosterone production and in 48 normal volunteers.
RESULTS AND CONCLUSIONS:
We did not identify any patient carrying this mutation, indicating that if it exists it is very rare and so has no relevance in determining the increased steroid excretion seen in some subtypes of human hypertension
Ritratto femminile su una lastra incisa da S. Callisto e l’iconografia del defunto nell’arte funeraria paleocristiana
No full textSi confronta il busto ritratto femminile inciso su una chiusura di loculo della catacomba di S. Callisto a Roma con l'iconografia della Augusta Elena e con altri ritratti femminili della pittura funeraria cristiana ivi compreso quello della galleria VIII nella catacomba di Villagrazia di Carini
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