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11.
Evidence of B cell clonality and investigation into properties of the IgM in patients with Schnitzler syndrome
Shelly Pathak, Dorota Rowczenio, Samuel Lara-Reyna, Mark Kačar, Roger Owen, Gina Doody, Karoline Krause, Helen J Lachmann, Rainer Doffinger, Darren Newton, Sinisa Savic, 2020

Povzetek: The Schnitzler Syndrome (SchS) is an acquired, autoinflammatory condition successfully treated with IL-1 inhibition. The two main defining features of this late-onset condition are neutrophilic urticarial dermatoses (NUD) and the presence of an IgM monoclonal component. While the former aspect has been extensively studied in this disease setting, the enigmatic paraproteinaemia and its potential consequential effects within SchS, has not previously been thoroughly addressed. Previous studies analyzing clonal B cell repertoires have largely focused on autoimmune disorders such as Systemic Lupus Erythematous (SLE) and hematological malignancies such as Chronic Lymphocytic Leukaemia (CLL), where B-cell clonality is central to disease pathology. The present study uses next-generation sequencing to provide detailed insight into aspects of B cell VDJ recombination and properties of the resulting immunoglobulin chains. An overview of IgH regional dynamics in 10 SchS patients, with a particular focus on CDR3 sequences and VDJ gene usage is reported, highlighting the presence of specific B cell expansions. Protein microarray detected a substantial proportion of autoreactive IgM to nuclear target proteins, though a single universal target was not identified. Together, these genetic and functional findings impart new understanding into this rare disorder.
Ključne besede: Schnitzler syndrome, B-lymhocytes, paraproteinemias, pararoteins, immunoglobulin M, autoinflammatory diseases, IgM
DiRROS - Objavljeno: 08.04.2021; Ogledov: 4; Prenosov: 2
URL Celotno besedilo (0,00 KB)

12.
Identification of critical transcriptomic signaling pathways in patients with H syndrome and Rosai-Dorfman disease
Samuel Lara-Reyna, James A. Poulter, Elton J.R. Vasconcelos, Mark Kačar, Michael F. McDermott, Reuben Tooze, Rainer Doffinger, Sinisa Savic, 2021

Povzetek: Biallelic mutations in SLC29A3 cause histiocytosis-lymphadenopathy plus syndrome, also known as H syndrome (HS). HS is a complex disorder, with ~ 25% of patients developing autoinflammatory complications consisting of unexplained fevers, persistently elevated inflammatory markers, and unusual lymphadenopathies, with infiltrating CD68+, S100+, and CD1a[minus] histiocytes, resembling the immunophenotype found in Rosai-Dorfman disease (RDD). We investigated the transcriptomic profiles of monocytes, non-activated (M0), classically activated (M1), and alternatively activated macrophages (M2) in two patients with HS, one without autoinflammatory (HS1) and one with autoinflammatory complications (HS2). RNA sequencing revealed a dysregulated transcriptomic profile in both HS patients compared to healthy controls (HC). HS2, when compared to HS1, had several differentially expressed genes, including genes associated with lymphocytic-histiocytic predominance (e.g. NINL) and chronic immune activation (e.g. B2M). The transcriptomic and cytokine profiles of HS patients were comparable to patients with SAID with high levels of TNF. SERPINA1 gene expression was found to be upregulated in all patients studied. Moreover, higher levels of IFN[gamma] were found in the serum of both HS patients when compared to HC. Gene ontology (GO) enrichment analysis of the DEGs in HS patients revealed the terms "type I IFN," "IFN[gamma] signaling pathway," and "immune responses" as the top 3 most significant terms for monocytes. Gene expression analysis of lymph node biopsies from sporadic and H syndrome-associated RDD suggests common underlying pathological process. In conclusion, monocytes and macrophages from both HS patients showed transcriptomic profiles similar to SAIDs and also uniquely upregulated IFN[gamma] signature. These findings may help find better therapeutic options for this rare disorder.
Ključne besede: interferon-gamma, H syndrome, systemic autoinflammatory disease
DiRROS - Objavljeno: 08.04.2021; Ogledov: 2; Prenosov: 3
.pdf Celotno besedilo (7,43 MB)

13.
Deseta obletnica Državnega programa obvladovanja raka
Branko Zakotnik, 2020

Ključne besede: onkologija, presejalni programi, epidemiologija, obvladovanje raka
DiRROS - Objavljeno: 08.04.2021; Ogledov: 3; Prenosov: 2
.pdf Celotno besedilo (169,88 KB)

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Cilji in smernice za presejalne programe v onkologiji
Vesna Zadnik, 2020

Ključne besede: onkologija, presejalni programi, epidemiologija, obvladovanje raka
DiRROS - Objavljeno: 08.04.2021; Ogledov: 3; Prenosov: 2
.pdf Celotno besedilo (42,42 KB)

16.
Populacijsko onkološko genetsko presejanje
Mateja Krajc, 2020

Ključne besede: onkologija, presejalni programi, genetika, obvladovanje raka
DiRROS - Objavljeno: 08.04.2021; Ogledov: 3; Prenosov: 3
.pdf Celotno besedilo (74,73 KB)

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Poetika odprtosti
Janneke Adema, 2021

Ključne besede: odprt dostop, objavljanje, založba, znanstvena poetika, poetika, etika
DiRROS - Objavljeno: 08.04.2021; Ogledov: 7; Prenosov: 2
.pdf Celotno besedilo (352,10 KB)

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Zaznamek o senčnih knjižnicah
Ana Inkret, 2021

Ključne besede: senčne knjižnice, odprti dostop, znanstveno založništvo
DiRROS - Objavljeno: 08.04.2021; Ogledov: 8; Prenosov: 4
.pdf Celotno besedilo (505,18 KB)

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