Recombinant Human Ryanodine receptor 3 (RYR3), partial

1. a genome-wide linkage scan and regional association fine-mapping identified variants in the RYR3 gene as a quantitative trail locus for plasma adiponectin levels in Chinese population PMID: 27858853
2. Data show that the common variant single-nucleotide polymorphism rs2229116 of the ryanodine receptor 3 gene (RYR3) was significantly associated with carotid intima-media thickness (cIMT). PMID: 25500725
3. SNPs within the RYR3 region were associated with subclinical atherosclerosis among HIV-infected women. Allelic heterogeneity observed across the three races suggests that the contribution of the RYR3 gene to CCA cIMT is complex. PMID: 24561552
4. rs877087 and rs2229116 of RYR3 gene are associated with atherosclerosis severity in Japanese. PMID: 24423397
5. a genetic interaction between the RYR3 and CACNA1C genes explained variance in amyloid deposition above and beyond other major known risk factors for late-onset Alzheimer's disease PMID: 24026422
6. The findings reported here for the case-only analysis of the antihypertensive pharmacogenetic effect of RYR3 among 3058 CHD cases . PMID: 22664477
7. the rectified RyR3 channel in open conformation may be regulated in situ by two cytosolic activating Ca(2+) sites PMID: 24211435
8. The current study suggests that the functional variant (rs1044129) in the miR-367 binding site of RYR3 may be a potential marker for prognosis in patients following curative surgery for colorectal cancer PMID: 23393343
9. RYR3 gene polymorphisms are associated with common carotid intima-media thickness in HIV-infected white males. PMID: 22627881
10. Alterations in RyR3 expression at early disease stages may reflect the onset of pathologic mechanisms leading to later neurodegeneration. PMID: 21531043
11. A putative binding site for microRNA-367 exists in the 3'UTR of RYR3, and a genetic variant, rs1044129 A-->G, is present in this binding region. PMID: 21810988
12. smooth muscle RYR3 may function as a suppressor of RyR2-mediated Ca2+ release by forming heteromeric channels with a decreased sensitivity to activation by luminal Ca2+ PMID: 12213830
13. essential in the sustained Ca(2+) response in T cells PMID: 12354756
14. smooth muscle tissues express a major dominant negative splice variant of the type 3 Ca2+ release channel (ryanodine receptor) PMID: 12471029
15. RNase protection assay and in situ hybridization revealed that RYR2 mRNA expresses widely in the heart including the SA-node, while RYR3 mRNA expression is limited to the SA-node and to the right atrium. PMID: 14550562
16. the central binding site for the 12 kDa FK506-binding protein of type-3 ryanodine receptor, encompassing the critical valine proline motif, plays a crucial role in the modulation of the Ca2+ release properties PMID: 14970260
17. We genotyped 14 tag SNPs in 166 Japanese patients with autism and 375 controls. PMID: 18588595
18. Upregulation of the expression of ryanodine receptor 3 is suggestive of an intracellular calcium leak. PMID: 19581603
19. This is the first published report on RyR3 and also establishes the first evidence of wide expression of the RyR3 gene. PMID: 1320290
20. RyR3 is expressed in all murine skeletal muscles during the post-natal phase of muscle development and in fewer muscles in adult mice. In agreement, RyR3 KO mice present impaired contractility during the first weeks after birth but not in adult life. PMID: 9384575
21. RyR3 KO mice show changes in hippocampal synaptic plasticity and a reduced flexibility in re-learning a new target in the water-maze. In the open-field, KO mice displayed a normal exploration and habituation, but had an increased speed of locomotion. PMID: 10508160

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HGNC: 10485

OMIM: 180903

KEGG: hsa:6263

STRING: 9606.ENSP00000373884

UniGene: Hs.709373