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| Content Provider | PubMed Central |
|---|---|
| Author | Caseley, Emily A. Muench, Stephen P. Roger, Sebastien Mao, Hong-ju Baldwin, Stephen A. Jiang, Lin-hua |
| Copyright Year | 2014 |
| 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 an overview 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 P2RX genes 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. |
| Related Links | http://dx.doi.org/10.3390/ijms150813344 |
| Ending Page | 13371 |
| Page Count | 28 |
| Starting Page | 13344 |
| File Format | |
| ISSN | 14220067 |
| e-ISSN | 14220067 |
| Journal | International Journal of Molecular Sciences |
| Issue Number | 8 |
| Volume Number | 15 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2014-07-01 |
| Access Restriction | Open |
| Rights Holder | MDPI |
| Subject Keyword | Physical and Theoretical Chemistry Inorganic Chemistry Organic Chemistry Spectroscopy Molecular Biology Catalysis Computer Science Applications Research in Higher Education |
| Content Type | Text |
| Resource Type | Article |
| Subject | Spectroscopy Organic Chemistry Medicine Molecular Biology Physical and Theoretical Chemistry Catalysis Inorganic Chemistry Computer Science Applications |
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