|
Tetralogy of Fallot
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
|
22713807 |
2013 |
|
Tetralogy of Fallot
|
0.620 |
SusceptibilityMutation
|
disease |
ORPHANET |
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
|
22713807 |
2013 |
|
Tetralogy of Fallot
|
0.620 |
Biomarker
|
disease |
BEFREE |
These small duplications encompassed a single gene in common, GJA5, and were enriched in cases of TOF in comparison to controls [OR = 10.7 (95% CI 1.8-64.3), P = 0.01].
|
22199024 |
2012 |
|
Tetralogy of Fallot
|
0.620 |
Biomarker
|
disease |
MGD |
High incidence of cardiac malformations in connexin40-deficient mice.
|
12842919 |
2003 |
|
Tetralogy of Fallot
|
0.620 |
Biomarker
|
disease |
HPO |
|
|
|
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Novel connexin40 missense mutations in patients with familial atrial fibrillation.
|
20650941 |
2010 |
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
ATRIAL FIBRILLATION, FAMILIAL, 11
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hypertensive disease
|
0.550 |
Biomarker
|
group |
BEFREE |
NaHS treatment decreased hypertension-induced Cx40/Cx43 expressions in T lymphocytes from SHR.
|
29485979 |
2018 |
|
Hypertensive disease
|
0.550 |
GeneticVariation
|
group |
BEFREE |
We analysed human GJA5 consisting of two exons (exon1A or 1B and exon2) in a selected cohort identified by a single nucleotide polymorphism (SNP) in the GJA5 intron for polymorphisms and putative association with hypertension and left ventricular hypertrophy (LVH).
|
25992486 |
2015 |
|
Hypertensive disease
|
0.550 |
GeneticVariation
|
group |
BEFREE |
Our data show that blood pressure is improved by restoration of Cx40 expression in RSCs but not in endothelial cells, stressing the prominent role of renin in the mouse hypertension linked to loss of Cx40.
|
24614215 |
2014 |
|
Hypertensive disease
|
0.550 |
Therapeutic
|
group |
RGD |
Study of the mechanism of antihypertensive peptides VPP and IPP in spontaneously hypertensive rats by DNA microarray analysis.
|
19686729 |
2009 |
|
Hypertensive disease
|
0.550 |
Biomarker
|
group |
CTD_human |
The high blood pressure of the Cx40 knockout mice was significantly reduced when Cx45 was knocked into the locus but remained mildly elevated compared to wild-type mice.
|
19109587 |
2009 |
|
Hypertensive disease
|
0.550 |
Biomarker
|
group |
BEFREE |
Both, vascular and renal function of Cx40, may be involved in the hypertension that is observed in Cx40-deficient animals.
|
18276987 |
2008 |
|
Hypertensive disease
|
0.550 |
GeneticVariation
|
group |
BEFREE |
We found a significant contribution of the minor Cx40 allele or genotype (-44AA/+71GG) to the risk of hypertension in men (P = 0.013 or P = 0.035; odds ratio, 1.87 or 2.10, respectively), but not in women.
|
16508580 |
2006 |
|
Hypertensive disease
|
0.550 |
Biomarker
|
group |
RGD |
The development of hypertension in the SHR is accompanied by significant decreases in endothelial cell size and expression of Cx40, which may contribute to the endothelial dysfunction present in hypertension.
|
11821709 |
2002 |
|
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic model analysis shown that the minor allele T of GJA5 rs35594137 was associated with a decreased AF risk under the recessive model (OR = 0.40; 95% CI: 0.19-0.86; p = 0.018) and the minor allele G of KCNJ2 rs8079702 was associated with an increased AF risk in the recessive model (OR = 2.31; 95% CI: 1.20-4.42; p = 0.012).
|
31270966 |
2019 |
|
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The results showed that there was significant difference in the expression of CVF-I (t=3.827, P<0.01), Cx40 (t=4.21, P<0.01), and groups of the ID that keeping the electrical transmission and atrial electrical coupling synchronization (t=15.116, P<0.001), but no significant difference was found in total IDs (t=0.611, P=0.543) between patients with AF and those with sinus rhythm.
|
31346988 |
2019 |
|
Atrial Fibrillation
|
0.500 |
Biomarker
|
disease |
CTD_human |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
|
Atrial Fibrillation
|
0.500 |
Biomarker
|
disease |
BEFREE |
Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants.
|
29587382 |
2018 |
|
Atrial Fibrillation
|
0.500 |
Biomarker
|
disease |
BEFREE |
Various genes involved in Ca<sup>2+</sup> handling or gap junction formation ( Ryr2, Jph2, Gja5), potassium channels ( Kcnh2, Kcnk3), and genes implicated in atrial fibrillation ( Tbx5) were part of this ETV1-driven gene regulatory network.
|
29930145 |
2018 |
|
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
|
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Distribution of the Cx40 promoter B polymorphism (-<i>26A</i> > <i>G</i>) was different in structural AF when compared to controls (<i>p</i> = 0.03).
|
29351227 |
2018 |
|
Atrial Fibrillation
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The A96S, G38D, and P88S Cx40 mutations slow conduction and increased the propensity for inducible AF.
|
28457700 |
2018 |
|
Atrial Fibrillation
|
0.500 |
Biomarker
|
disease |
CTD_human |
Multi-ethnic genome-wide association study for atrial fibrillation.
|
29892015 |
2018 |