|
Myopia
|
0.340 |
Biomarker
|
disease |
BEFREE |
Decreased expression of gap junction delta-2 (GJD2) messenger RNA and connexin 36 protein in form-deprivation myopia of guinea pigs.
|
31283648 |
2019 |
|
Myopia
|
0.340 |
Biomarker
|
disease |
BEFREE |
This study aimed to assess heritability of myopia in Lithuania and evaluate both genes GJD2 (Gap Junction Protein, Delta 2) and RASGRF1 (RAS protein-specific guanine nucleotide-releasing factor 1) relation with myopia.
|
29793445 |
2018 |
|
Myopia
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We identify WNT7B as a novel susceptibility gene for axial length (rs10453441, Pmeta=3.9 × 10(-13)) and corneal curvature (Pmeta=2.9 × 10(-40)) and confirm the previously reported association between GJD2 and myopia.
|
25823570 |
2015 |
|
Myopia
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Two recent large-scale genome-wide association studies identified significant associations between myopia and single nucleotide polymorphisms (SNPs) near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes.
|
25587058 |
2015 |
|
Myopia
|
0.340 |
Biomarker
|
disease |
CTD_human |
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
|
23396134 |
2013 |
|
Refractive Errors
|
0.320 |
GeneticVariation
|
group |
BEFREE |
In addition, our results contribute to the increasing evidence that variation in the GJD2 and PRSS56 genes influence the development of refractive errors.
|
27440996 |
2016 |
|
Refractive Errors
|
0.320 |
GeneticVariation
|
group |
BEFREE |
Three genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)).
|
24014484 |
2014 |
|
Refractive Errors
|
0.320 |
Biomarker
|
group |
CTD_human |
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
|
20835239 |
2010 |
|
Schizophrenia
|
0.310 |
Biomarker
|
disease |
BEFREE |
These data do not suggest that Panx2 or Cx36 could increase the risk of schizophrenia in the Japanese population.
|
17427027 |
2007 |
|
Schizophrenia, Catatonic
|
0.310 |
Biomarker
|
disease |
BEFREE |
No variant exclusively cosegregates with the disease in a large pedigree that mainly supports the chromosome 15q14 locus, providing evidence that CX36 is not causative for the pathogenesis of catatonic schizophrenia in this family.
|
12363395 |
2002 |
|
Ametropia
|
0.300 |
Biomarker
|
disease |
CTD_human |
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
|
20835239 |
2010 |
|
Brain Hypoxia
|
0.200 |
Biomarker
|
phenotype |
RGD |
Differential expression of hippocampal connexins after acute hypoxia in the developing brain.
|
20034754 |
2010 |
|
Juvenile Myoclonic Epilepsy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations.
|
28636645 |
2017 |
|
Juvenile Myoclonic Epilepsy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to JME.
|
23756480 |
2013 |
|
Juvenile Myoclonic Epilepsy
|
0.040 |
GeneticVariation
|
disease |
LHGDN |
The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with JME.
|
16876983 |
2006 |
|
Juvenile Myoclonic Epilepsy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with JME.
|
16876983 |
2006 |
|
Juvenile Myoclonic Epilepsy
|
0.040 |
GeneticVariation
|
disease |
LHGDN |
Association of the connexin36 gene with juvenile myoclonic epilepsy.
|
15235036 |
2004 |
|
Neuralgia
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Collectively, these findings demonstrated that neurons and SGCs express Cx36 protein in normal DRG, and suggested that perturbation of Cx36 levels may contribute to chronic neuropathic pain resulting from a peripheral nerve injury.
|
29224922 |
2018 |
|
Neuralgia
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
Therefore, the present study explores the role of connexin 36 (Cx36) in NP using the chronic constriction injury of the infraorbital nerve (CCI-IoN) model in rat.
|
29746991 |
2018 |
|
Neuralgia
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Furthermore, in the SNI model of neuropathic pain (NP), downregulation of TRESK in spinal cord neurons resulted in upregulation of connexin 36 (Cx36) and connexin 43 (Cx43), both being subtypes of gap junctions in the spinal cord, with gliocytes in the spinal cord activated ultimately.
|
28160200 |
2017 |
|
Severe myopia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Of the 50 myopia-associated loci, we did not find any variant specifically associated with MMD, but the KCNMA1 and GJD2 loci were significantly associated with HM in highly myopic subjects with MMD, compared to emmetropes.
|
31415580 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
A perspective for the use of blockers of Cx36 gap junction channels for ALS therapy is discussed.
|
29246791 |
2018 |
|
Amyotrophic Lateral Sclerosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Cx36-made electrical synapses without glutamatergic signaling appear to be more vulnerable than other chemical synapses and electrical synapses with glutamatergic signaling in the early stage of motor neuron degeneration, suggesting involvement of Cx36-made electrical synapses in the pathogenesis of human ALS.
|
30546295 |
2018 |
|
Epilepsy
|
0.020 |
Biomarker
|
disease |
BEFREE |
Neuronal gap junctional protein connexin 36 (Cx36) contributes to neuronal death following a range of acute brain insults such as ischemia, traumatic brain injury and epilepsy.
|
29246791 |
2018 |
|
Status Epilepticus
|
0.020 |
Biomarker
|
disease |
BEFREE |
Cx36 in the mouse hippocampus during and after pilocarpine-induced status epilepticus.
|
29476948 |
2018 |