المؤلفون: Lucherini OM, Obici L, FERRACIN, MANUELA, Fulci V, McDermott MF, Merlini G, Muscari I, Magnotti F, Dickie LJ, Galeazzi M, Negrini M, Baldari CT, Cimaz R, Cantarini L.

المساهمون: Lucherini OM, Obici L, Ferracin M, Fulci V, McDermott MF, Merlini G, Muscari I, Magnotti F, Dickie LJ, Galeazzi M, Negrini M, Baldari CT, Cimaz R, Cantarini L

مصطلحات موضوعية: Adult, Case-Control Studie, Female, Hereditary Autoinflammatory Disease, Human, Interleukin 1 Receptor Antagonist Protein, Male, MicroRNA, Middle Aged, Receptors, Tumor Necrosis Factor, Type I

الوصف: Tumor necrosis factor-receptor associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder characterized by recurrent episodes of long-lasting fever and inflammation in different regions of the body, such as the musculo-skeletal system, skin, gastrointestinal tract, serosal membranes and eye. Our aims were to evaluate circulating microRNAs (miRNAs) levels in patients with TRAPS, in comparison to controls without inflammatory diseases, and to correlate their levels with parameters of disease activity and/or disease severity. Expression levels of circulating miRNAs were measured by Agilent microarrays in 29 serum samples from 15 TRAPS patients carrying mutations known to be associated with high disease penetrance and from 8 controls without inflammatory diseases. Differentially expressed and clinically relevant miRNAs were detected using GeneSpring GX software. We identified a 6 miRNAs signature able to discriminate TRAPS from controls. Moreover, 4 miRNAs were differentially expressed between patients treated with the interleukin (IL)-1 receptor antagonist, anakinra, and untreated patients. Of these, miR-92a-3p and miR-150-3p expression was found to be significantly reduced in untreated patients, while their expression levels were similar to controls in samples obtained during anakinra treatment. MiR-92b levels were inversely correlated with the number of fever attacks/year during the 1st year from the index attack of TRAPS, while miR-377-5p levels were positively correlated with serum amyloid A (SAA) circulating levels. Our data suggest that serum miRNA levels show a baseline pattern in TRAPS, and may serve as potential markers of response to therapeutic intervention.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24066048; info:eu-repo/semantics/altIdentifier/wos/WOS:000324494000029; volume:8; issue:9; firstpage:1; lastpage:6; numberofpages:6; journal:PLOS ONE; http://hdl.handle.net/11585/542203Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884198548; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073443Test

الإتاحة: https://doi.org/10.1371/journal.pone.0073443Test
http://hdl.handle.net/11585/542203Test
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073443Test

المؤلفون: Calabrò, Marco, Porcelli, Stefano, Crisafulli, Concetta, Wang, Sheng-Min, Lee, Soo-Jung, Han, Changsu, Patkar, Ashwin A., Masand, Prakash S., Albani, Diego, Raimondi, Ilaria, Forloni, Gianluigi, Bin, Sofia, Cristalli, Carlotta, Mantovani, Vilma, Pae, Chi-Un, Serretti, Alessandro

المساهمون: Calabrò, Marco, Porcelli, Stefano, Crisafulli, Concetta, Wang, Sheng-Min, Lee, Soo-Jung, Han, Changsu, Patkar, Ashwin A., Masand, Prakash S., Albani, Diego, Raimondi, Ilaria, Forloni, Gianluigi, Bin, Sofia, Cristalli, Carlotta, Mantovani, Vilma, Pae, Chi-Un, Serretti, Alessandro

مصطلحات موضوعية: Antipsychotic, Deep phenotyping, Genetic, Schizophrenia, Adult, Aged, 80 and over, Antipsychotic Agent, Cartilage Oligomeric Matrix Protein, Case-Control Studie, Female, Group IV Phospholipases A2, Human, Male, Middle Aged, Mitogen-Activated Protein Kinase 1, Receptors, sigma, S100 Calcium Binding Protein beta Subunit, alpha7 Nicotinic Acetylcholine Receptor, Polymorphism, Single Nucleotide, Cellular and Molecular Neuroscience

الوصف: Schizophrenia (SCZ) is a common and severe mental disorder. Genetic factors likely play a role in its pathophysiology as well as in treatment response. In the present study, we investigated the effects of several single nucleotide polymorphisms (SNPs) within 9 genes involved with antipsychotic (AP) mechanisms of action. Two independent samples were recruited. The Korean sample included 176 subjects diagnosed with SCZ and 326 healthy controls, while the Italian sample included 83 subjects and 194 controls. AP response as measured by the positive and negative syndrome scale (PANSS) was the primary outcome, while the secondary outcome was the SCZ risk. Exploratory analyses were performed on (1) symptom clusters response (as measured by PANSS subscales); (2) age of onset; (3) family history; and (4) suicide history. Associations evidenced in the primary analyses did not survive to the FDR correction. Concerning SCZ risk, we partially confirmed the associations among COMT and MAPK1 genetic variants and SCZ. Finally, our exploratory analysis suggested that CHRNA7 and HTR2A genes may modulate both positive and negative symptoms responses, while PLA2G4A and SIGMAR1 may modulate respectively positive and negative symptoms responses. Moreover, GSK3B, HTR2A, PLA2G4A, and S100B variants may determine an anticipation of SCZ age of onset. Our results did not support a primary role for the genes investigated in AP response as a whole. However, our exploratory findings suggested that these genes may be involved in symptom clusters response.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29164477; info:eu-repo/semantics/altIdentifier/wos/WOS:000419866200007; volume:64; issue:1; firstpage:62; lastpage:74; numberofpages:13; journal:JOURNAL OF MOLECULAR NEUROSCIENCE; http://hdl.handle.net/11585/659310Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85034658714; http://www.springer.com/humana+press/journal/12031Test

الإتاحة: https://doi.org/10.1007/s12031-017-1002Test-1
http://hdl.handle.net/11585/659310Test
http://www.springer.com/humana+press/journal/12031Test

المؤلفون: CATANI, LUCIA, SOLLAZZO, DARIA, Ricci F., POLVERELLI, NICOLA, PALANDRI, FRANCESCA, BACCARANI, MICHELE, VIANELLI, NICOLA, LEMOLI, ROBERTO MASSIMO

المساهمون: Catani L., Sollazzo D., Ricci F., Polverelli N., Palandri F., Baccarani M., Vianelli N., Lemoli R.M.

مصطلحات موضوعية: CD47, immune thrombocytopenia, ITP, SIRPα, Adult, Aged, Antibodie, Antigens, Differentiation, Apoptosi, Blood Platelet, CD47 Antigen, Cells, Cultured, Dendritic Cell, Enzyme-Linked Immunosorbent Assay, Female, Flow Cytometry, Human, Lipopolysaccharide Receptor, Macrophage, Male, Middle Aged, Phagocytosi, Receptors, Immunologic, Signal Transduction, Thrombocytopenia, Thrombospondin 1, Time Factor

الوصف: OBJECTIVE: A novel mechanism of platelet destruction involving the CD47/ signal regulatory protein-α (SIRPα) system has recently been suggested in a mouse model of immune thrombocytopenia (ITP). The CD47 molecule serves as ligand for SIRPα receptor and as receptor for thrombospondin acting as antagonistic to phagocyte activity and a regulator of apoptosis, respectively. In this study, we evaluated if the CD47/SIRPα axis may be involved in the apoptosis and clearance of platelets in human ITP. MATERIALS AND METHODS: Using flow cytometry, we characterized whether expression of CD47 on fresh and in vitro-aged platelets- and of SIRPα receptor on CD14-derived dendritic cells (DCs), macrophages, circulating DCs, and monocytes is reduced is ITP; whether the in vitro platelet phagocytic capacity of CD14-derived DCs and macrophages is differentially modulated in the presence or absence of antibodies against CD47 and SIRPα in ITP; and whether platelets are more susceptible to the CD47-induced death signal in ITP. RESULTS: We demonstrated that low platelet count in ITP is not due to increased phagocytosis associated with decreased expression of CD47 on the platelet surface and, despite reduced SIRPα expression, blockage of SIRPα on immature CD14-derived DCs or CD47 on platelets by specific antibodies failed to modify platelet uptake/phagocytosis of DCs. In contrast, targeting platelet CD47 with specific antibody significantly increases platelet phagocytosis of CD14-derived macrophages, and platelets are not healthy because they show increased apoptosis and are resistant to CD47-induced death signal. CONCLUSIONS: Our results demonstrate that the CD47 pathway in ITP patients abnormally modulates platelet homeostasis.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21211546; info:eu-repo/semantics/altIdentifier/wos/WOS:000288975400010; volume:39; issue:4; firstpage:486; lastpage:494; numberofpages:8; journal:EXPERIMENTAL HEMATOLOGY; http://hdl.handle.net/11585/112244Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79952695582; http://doi.org/10.1016/j.exphem.2010.12.011Test

الإتاحة: https://doi.org/10.1016/j.exphem.2010.12.011Test
http://hdl.handle.net/11585/112244Test