Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Variant snRNPs: New players within the spliceosome system.

ABSTRACT: Much evidence is now accumulating that, in addition to their general role in splicing, the components of the core splicing machinery have extensive regulatory potential. In particular, recent evidence has demonstrated that de-regulation of these factors cause the highest extent of alternative splicing changes compared to de-regulation of the classical splicing regulators. This lack of a general inhibition of splicing resonates the differential splicing effects observed in different disease pathologies associated with specific mutations targeting core spliceosomal components. In this review we will summarize what is currently known regarding the involvement of core spliceosomal U-snRNP complexes in perturbed tissue development and human diseases and argue for the existence of a compensatory mechanism enabling cells to cope with drastic perturbations in core splicing components. This system maintains the correct balance of spliceosomal snRNPs through differential expression of variant (v)U-snRNPs.

SUBMITTER: Vazquez-Arango P

PROVIDER: S-EPMC5786027 | biostudies-other | 2018 Jan

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Variant snRNPs: New players within the spliceosome system.

Vazquez-Arango Pilar P O'Reilly Dawn D

RNA biology 20171011 1

Much evidence is now accumulating that, in addition to their general role in splicing, the components of the core splicing machinery have extensive regulatory potential. In particular, recent evidence has demonstrated that de-regulation of these factors cause the highest extent of alternative splicing changes compared to de-regulation of the classical splicing regulators. This lack of a general inhibition of splicing resonates the differential splicing effects observed in different disease patho ...[more]

PMID: 28876172

Similar Datasets

Claudins: New Players in Human Fertility and Reproductive System Cancers.

Project description:Claudins are major integral proteins of tight junctions (TJs), the apical cell-cell adhesions that enable maintaining polarity of epithelial cells, their differentiation, and cell signaling. A number of studies have indicated that claudins might play a crucial role in both physiology and pathogenesis. Their tissue-specific expression was originally linked to the development of different types of cancer and triggered a hope to use them as diagnostic or prognostic markers. However, it seems that their expression is more complex than that, and undoubtedly, claudins participate in one of the most important molecular events in cells. This review summarizes the recent research evaluating the role of claudins in fertility and the most common endocrine-dependent cancers in the reproductive system and highlights the crucial role of claudins both in human fertility and the most common cancers.

| S-EPMC7140004 | biostudies-literature

New RHD variant

Project description:A new RHD variant the non-coding sequence

| PRJEB27722 | ENA

New Dombrock variant

Project description:13 new Dombrock variants

| PRJEB28375 | ENA

New Dombrock variant

Project description:13 new Dombrock variants

| PRJEB28376 | ENA

New RHD variant

Project description:Four new RHD variants in patients

| PRJEB27625 | ENA

MicroRNAs: new players in IBD.

Project description:MicroRNAs (miRNAs) are small non-coding RNAs, 18-23 nucleotides long, which act as post-transcriptional regulators of gene expression. miRNAs are strongly implicated in the pathogenesis of many common diseases, including IBDs. This review aims to outline the history, biogenesis and regulation of miRNAs. The role of miRNAs in the development and regulation of the innate and adaptive immune system is discussed, with a particular focus on mechanisms pertinent to IBD and the potential translational applications.

| S-EPMC4345829 | biostudies-literature

Apolipoproteins: New players in cancers.

Project description:Apolipoproteins (APOs), the primary protein moiety of lipoproteins, are known for their crucial role in lipid traffic and metabolism. Despite extensive exploration of APOs in cardiovascular diseases, their roles in cancers did not attract enough attention. Recently, research focusing on the roles of APOs in cancers has flourished. Multiple studies demonstrate the interaction of APOs with classical pathways of tumorigenesis. Besides, the dysregulation of APOs may indicate cancer occurrence and progression, thus serving as potential biomarkers for cancer patients. Herein, we summarize the mechanisms of APOs involved in the development of various cancers, their applications as cancer biomarkers and their genetic polymorphism associated with cancer risk. Additionally, we also discuss the potential anti-cancer therapies by virtue of APOs. The comprehensive review of APOs in cancers may advance the understanding of the roles of APOs in cancers and their potential mechanisms. We hope that it will provide novel clues and new therapeutic strategies for cancers.

| S-EPMC9732396 | biostudies-literature

Open access publishers: The new players.

Project description:The essential role of journals as registries of scientific activity in all areas of knowledge justifies concern about their ownership and type of access. The purpose of this research is to analyze the main characteristics of publishers with journals that have received the DOAJ Seal. The specific objectives are a) to identify publishers and journals registered with the DOAJ Seal; b) to characterize those publishers; and c) to analyze their article processing fees. The research method involved the use of the DOAJ database, the Seal option and the following indicators: publisher, title, country, number of articles, knowledge area, article processing charges in USD, time for publication in weeks, and year of indexing in DOAJ. The results reveal a fast-rising oligopoly, dominated by Springer with 35% of the titles and PLOS with more than 20% of the articles. We've identified three models of expansion: a) a few titles with hundreds of articles; b) a high number of titles with a mix of big and small journals; and c) a high number of titles with medium-size journals. We identify a high number of titles without APCs (27%) in all areas while medicine was found to be the most expensive area. Commercial publishers clearly exercise control over the scope of journals and the creation of new titles, according to the interests of their companies, which are not necessarily the same as those of the scientific community or of society in general.

| S-EPMC7274412 | biostudies-literature

The Spliceosome: A New Therapeutic Target in Chronic Myeloid Leukaemia.

Project description:RNA splicing factors are frequently altered in cancer and can act as both oncoproteins and tumour suppressors. They have been found mutated or deregulated, justifying the growing interest in the targeting of splicing catalysis, splicing regulatory proteins, and/or specific, key altered splicing events. We recently showed that the DNA methylation alterations of CD34+CD15- chronic myeloid leukaemia (CML) cells affect, among others, alternative splicing genes, suggesting that spliceosome actors might be altered in chronic-phase (CP)-CML. We investigated the expression of 12 spliceosome genes known to be oncogenes or tumour suppressor genes in primary CP-CML CD34+ cells at diagnosis (n = 15). We found that CP-CML CD34+ cells had a distinct splicing signature profile as compared with healthy donor CD34+ cells or whole CP-CML cells, suggesting: (i) a spliceosome deregulation from the diagnosis time and (ii) an intraclonal heterogeneity. We could identify three profile types, but there was no relationship with a patient's characteristics. By incubating cells with TKI and/or a spliceosome-targeted drug (TG003), we showed that CP-CML CD34+ cells are both BCR::ABL and spliceosome dependent, with the combination of the two drugs showing an additive effect while sparing healthy donors cells. Our results suggest that the spliceosome may be a new potential target for the treatment of CML.

| S-EPMC9563771 | biostudies-literature

ENCoRE: a lightweight software for CRISPR screens identifies new players in apoptosis

Project description:As CRISPR/Cas9 mediated screens with pooled sgRNA libraries in somatic cells become increasingly established, an unmet need for rapid and accurate companion informatics tools has emerged. We have developed a lightweight standalone software to easily manipulate raw large next generation sequencing (NGS) datasets derived from such screens into informative relational context with graphical support. We demonstrate the capabilities of the software to interrogate meaningful results from an in vitro viability screen using Tumor Necrosis Factor-alpha (TNFa). The results not only identified stereotypical players in extrinsic apoptotic signaling but two as yet uncharacterized members of the apoptotic cascade, Smg7 and Ces2a. We further characterized cell lines containing mutations in these genes against a panel of cell death stimuli. In summary, this software enables bench scientists without access to informatic cores to rapidly access and interpret results from large scale experiments resulting from CRISPR/Cas9 library screens.

2017-10-19 | GSE89994 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data