CTH, cystathionine gamma-lyase, 1491

N. diseases: 93; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria
0.940 Biomarker phenotype BEFREE From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria
0.940 Biomarker phenotype BEFREE We previously generated mice lacking cystathionine γ-lyase (Cth) as cystathioninuria models and found them to be with cystathioninemia/homocysteinemia. 31319489 2019
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria
0.940 GeneticVariation phenotype BEFREE Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria
0.940 GeneticVariation phenotype BEFREE Each affected child was homozygous for the novel DGUOK p.D255Y mutation, but had no CTH mutation, indicating that the hepatocerebral form of MDS might be associated with secondary cystathioninuria. 15887277 2005
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency
0.940 Biomarker disease BEFREE From genomic DNA, we sequenced CTH in four unrelated probands with cystathioninuria. 12574942 2003
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency
0.940 GeneticVariation disease BEFREE Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria. 20584029 2010
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency
0.940 Biomarker disease BEFREE We previously generated mice lacking cystathionine γ-lyase (Cth) as cystathioninuria models and found them to be with cystathioninemia/homocysteinemia. 31319489 2019
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency
0.940 GeneticVariation disease BEFREE Each affected child was homozygous for the novel DGUOK p.D255Y mutation, but had no CTH mutation, indicating that the hepatocerebral form of MDS might be associated with secondary cystathioninuria. 15887277 2005
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.310 Biomarker phenotype BEFREE This low CGL reduced cysteine and taurine concentrations in IUGR pigs and led to an accumulation of hepatic cystathionine, with lower homocysteine concentrations. 22137257 2012
CUI: C0025202
Disease: melanoma
melanoma
0.310 Biomarker disease BEFREE Role of the cystathionine γ lyase/hydrogen sulfide pathway in human melanoma progression. 25205294 2015
CUI: C0268618
Disease: Cystathioninemia
Cystathioninemia
0.110 Biomarker disease BEFREE We previously generated mice lacking cystathionine γ-lyase (Cth) as cystathioninuria models and found them to be with cystathioninemia/homocysteinemia. 31319489 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 Biomarker disease BEFREE We previously reported that cystathionine γ-lyase knockout (CSE-KO) male mice develop atherosclerosis earlier than male wild-type (WT) mice. 27986657 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 Biomarker disease BEFREE Cystathionine γ lyase (CSE) is the major source of hydrogen sulfide-derived species (H<sub>2</sub>S<sub>n</sub>) in endothelial cells and plays an important role in protecting against atherosclerosis. 31759247 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 Biomarker disease BEFREE Therefore, we aimed to evaluate the involvement of hydrogen sulfide (H <sub>2</sub> S)/cystathionine γ-lyase (CSE) in the pathogenesis of AS as well as their possible signaling pathways. 30246263 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.040 AlteredExpression disease BEFREE Inhibition of HDAC6 activity may improve endothelial function and prevent or reverse the development of atherosclerosis.<b>NEW & NOTEWORTHY</b> Oxidative injury to endothelial cells by oxidized LDL reduced cystathionine γ-lyase (CSEγ) expression and H<sub>2</sub>S production, leading to endothelial dysfunction, which was prevented by histone deacetylase 6 (HDAC6) inhibition. 28188215 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.040 AlteredExpression disease BEFREE Inhibition of HDAC6 activity may improve endothelial function and prevent or reverse the development of atherosclerosis.<b>NEW & NOTEWORTHY</b> Oxidative injury to endothelial cells by oxidized LDL reduced cystathionine γ-lyase (CSEγ) expression and H<sub>2</sub>S production, leading to endothelial dysfunction, which was prevented by histone deacetylase 6 (HDAC6) inhibition. 28188215 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.040 Biomarker disease BEFREE Therefore, we aimed to evaluate the involvement of hydrogen sulfide (H <sub>2</sub> S)/cystathionine γ-lyase (CSE) in the pathogenesis of AS as well as their possible signaling pathways. 30246263 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.040 Biomarker disease BEFREE We previously reported that cystathionine γ-lyase knockout (CSE-KO) male mice develop atherosclerosis earlier than male wild-type (WT) mice. 27986657 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.040 Biomarker disease BEFREE Cystathionine γ lyase (CSE) is the major source of hydrogen sulfide-derived species (H<sub>2</sub>S<sub>n</sub>) in endothelial cells and plays an important role in protecting against atherosclerosis. 31759247 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.040 Biomarker group BEFREE The cystathionine γ-lyase/hydrogen sulfide (CSE/H<sub>2</sub>S) pathway have been associated with several cardiovascular diseases, but the effect of TFR on the Rho-associated protein kinase (ROCK) and CSE/H<sub>2</sub>S signaling pathways remains unknown. 31611932 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.040 GeneticVariation group BEFREE We also performed SNP analysis of H<sub>2</sub>S synthesizing enzymes and found a significant increase in cystathionine gamma-lyase (CTH) 1364 G-T allele frequency in patients with CVD compared to controls. 29413960 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.040 AlteredExpression group BEFREE However, the molecular mechanisms that control CSEγ gene expression in the endothelium during cardiovascular diseases are unclear. 28188215 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.040 Biomarker group BEFREE Mounting evidence demonstrated deficient cystathionine-γ-lyase (CSE)/H<sub>2</sub>S implicated the development of cardiovascular disease. 28669627 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.040 Biomarker group BEFREE <i>Cth</i><sup>-/-</sup> females developed normally but showed mild hypertension (~10 mmHg systolic blood pressure elevation) in late pregnancy and mild proteinuria throughout development/pregnancy. 31319489 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.040 AlteredExpression group BEFREE Upregulation of cystathionine-γ-lyase/hydrogen sulfide pathway underlies the celecoxib counteraction of cyclosporine-induced hypertension and renal insult in rats. 30658157 2019