|
Miscarriage
|
0.310 |
Biomarker
|
disease |
CTD_human |
Gene expression in cultured endometrium from women with different outcomes following IVF.
|
18539642 |
2008 |
|
Miscarriage
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
Gal-13 and Gal-14 are primarily expressed by the syncytiotrophoblast at the maternal-fetal interface in the first trimester, and their placental expression is decreased in miscarriages compared to first-trimester controls.
|
31275299 |
2019 |
|
Leukodystrophy
|
0.030 |
Biomarker
|
disease |
BEFREE |
GlialCAM, a regulatory subunit of ClC-2 in glial cells and involved in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC), increases the activity of a ClC-2 mutant by affecting ClC-2 gating and by stabilising the mutant at the plasma membrane.
|
28905383 |
2017 |
|
Leukodystrophy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.
|
24647135 |
2014 |
|
Leukodystrophy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding the astrocytic protein MLC1, the cell adhesion molecule GlialCAM or the Cl(-) channel ClC-2 underlie human leukodystrophies.
|
26033718 |
2015 |
|
Idiopathic generalized epilepsy
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
To test for a potential pathophysiological impact of ClC-2 regulation by ATP, we studied ClC-2 channels carrying naturally occurring sequence variants found in patients with idiopathic generalized epilepsy, G715E, R577Q, and R653T.
|
23632988 |
2013 |
|
Idiopathic generalized epilepsy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Three different mutations in the CLCN2 gene, encoding the voltage-dependent homodimeric ClC-2 channel, have been associated with idiopathic generalized epilepsy (IGE).
|
15252188 |
2004 |
|
Idiopathic generalized epilepsy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations in the CLCN2 gene encoding the voltage-gated chloride channel CLC2 have been identified in patients with idiopathic generalized epilepsy (IGE).
|
19191339 |
2009 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
0.030 |
Biomarker
|
disease |
BEFREE |
GlialCAM brings MLC1 and the ClC-2 Cl(-) channel to cell-cell junctions, even though the role of ClC-2 in MLC disease remains incompletely understood.
|
23793458 |
2013 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
0.030 |
Biomarker
|
disease |
BEFREE |
Co-expression of the adhesion molecule GlialCAM, which forms a tertiary complex with ClC-2 and megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), rescued the functional expression of the mutant by modifying its gating properties.
|
28905383 |
2017 |
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
|
0.030 |
Biomarker
|
disease |
BEFREE |
Our data unmask an unforeseen functional relationship between MLC1 and ClC-2 in vivo, which is probably mediated by GlialCAM, and suggest that ClC-2 participates in the pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts.
|
24647135 |
2014 |
|
Cystic Fibrosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity.
|
15507145 |
2004 |
|
Cystic Fibrosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
The ClC-2 Cl- channel is thus a potential target for therapy in cystic fibrosis.
|
11401826 |
2001 |
|
Arteriosclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our aim was to investigate the potential role of a ClC-2 chloride channel activator, lubiprostone, which is reported to have beneficial effects on LGS, in the development of atherosclerosis in apolipoprotein E-deficient (ApoE-/-) mice.
|
31206525 |
2019 |
|
Atherosclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our aim was to investigate the potential role of a ClC-2 chloride channel activator, lubiprostone, which is reported to have beneficial effects on LGS, in the development of atherosclerosis in apolipoprotein E-deficient (ApoE-/-) mice.
|
31206525 |
2019 |
|
Colitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The role of ClC-2 was investigated in TJ barrier function in dextran sodium sulfate (DSS)-induced colitis in ClC-2 knockout mice and ClC-2 knockdown intestinal Caco-2 cells.
|
24030525 |
2013 |
|
Ulcerative Colitis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, ClC-2 expression is markedly reduced in the colon of human patients with ulcerative colitis.
|
24030525 |
2013 |
|
Epilepsy, Generalized
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.
|
15252188 |
2004 |
|
Glioma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot.
|
12843258 |
2003 |
|
Hyperaldosteronism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the adrenal, ClC-2 has been demonstrated to localize predominantly to the zona glomerulosa (ZG), and functional analysis suggests that mutations in ClC-2 predispose ZG cells to depolarization, thus leading to calcium influx via activation of voltage-gated calcium channels and increased aldosterone production.
|
30949771 |
2019 |
|
Glaucoma, Primary Open Angle
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, CLC‑2 may be a promising and potential novel therapeutic strategy for combating primary open‑angle glaucoma.
|
23934342 |
2013 |
|
Non-alcoholic Fatty Liver Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Lack of ClC-2 Alleviates High Fat Diet-Induced Insulin Resistance and Non-Alcoholic Fatty Liver Disease.
|
29550812 |
2018 |
|
Complete hydatidiform mole
|
0.010 |
Biomarker
|
disease |
BEFREE |
Paraffin-embedded tissues from CHMs and control placentas were used for tissue microarray (TMA) construction, immunohistochemistry, and immunoscoring for galectin-14.
|
31658584 |
2019 |
|
Conn Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
We now show that almost all known PA-associated CLCN2 mutations markedly increase ClC-2 chloride currents and generate knock-in mice expressing a constitutively open ClC-2 Cl<sup>-</sup> channel as mouse model for PA.
|
31615979 |
2019 |
|
Channelopathies
|
0.010 |
Biomarker
|
disease |
BEFREE |
Nearly every aspect of ClC-2 is discussed in the review: molecular features, biophysical characteristics, pharmacological properties, cellular function, regulation of expression and function, and channelopathies.
|
24378849 |
2013 |