Caseley, EA, Muench, SP, Roger, S et al. (3 more authors) (2014) Non-synonymous single nucleotide polymorphisms in the P2X receptor genes: Association with diseases, impact on receptor functions and potential use as diagnosis biomarkers. International Journal of Molecular Sciences, 15 (8). 13344 - 13371. ISSN 1661-6596
Abstract
P2X receptors are Ca2+-permeable cationic channels in the cell membranes, where they play an important role in mediating a diversity of physiological and pathophysiological functions of extracellular ATP. Mammalian cells express seven P2X receptor genes. Single nucleotide polymorphisms (SNPs) are widespread in the P2RX genes encoding the human P2X receptors, particularly the human P2X7 receptor. This article will provide anoverview of the non-synonymous SNPs (NS-SNPs) that have been associated with or implicated in altering the susceptibility to pathologies or disease conditions, and discuss the consequences of the mutations resulting from such NS-SNPs on the receptor functions. Disease-associated NS-SNPs in the P2RXgenes have been valuable in understanding the disease etiology and the receptor function, and are promising as biomarkers to be used for the diagnosis and development of stratified therapeutics. © 2014 by the authors; licensee MDPI, Basel, Switzerland.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/). |
Keywords: | Disease association; Loss-or gain-of-function mutation; NS-SNP; P2RX; Structure-function relationships |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Biological Sciences (Leeds) |
Depositing User: | Symplectic Publications |
Date Deposited: | 14 Oct 2014 11:38 |
Last Modified: | 07 Dec 2022 15:22 |
Published Version: | http://dx.doi.org/10.3390/ijms150813344 |
Status: | Published |
Publisher: | MDPI AG |
Refereed: | Yes |
Identification Number: | 10.3390/ijms150813344 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:80614 |