|
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
|
31041561 |
2019 |
|
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot.
|
29291004 |
2017 |
|
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
|
27094857 |
2016 |
|
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Colorectal Carcinoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
In support of a role for CtBP1 in initiation of colorectal cancer, adenomas taken from individuals with familial adenomatous polyposis contain high levels of CtBP1 protein in comparison with matched, uninvolved tissue.
|
17028196 |
2006 |
|
Colorectal Carcinoma
|
0.310 |
Biomarker
|
disease |
BEFREE |
In support of a role for CtBP1 in initiation of colorectal cancer, adenomas taken from individuals with familial adenomatous polyposis contain high levels of CtBP1 protein in comparison with matched, uninvolved tissue.
|
17028196 |
2006 |
|
Colorectal Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Adenomatous polyposis coli control of C-terminal binding protein-1 stability regulates expression of intestinal retinol dehydrogenases.
|
17028196 |
2006 |
|
Pitt-Rogers-Danks Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Wolf-Hirschhorn Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.110 |
Biomarker
|
disease |
BEFREE |
In summary, CTBP-1 is a novel arabinogalactan with great potential as a treatment for type 2 diabetes and Alzheimer's disease.
|
31151520 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.
|
26818947 |
2016 |
|
Global developmental delay
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
|
27094857 |
2016 |
|
Seizures
|
0.110 |
Biomarker
|
phenotype |
BEFREE |
A new susceptible region for seizure occurrence is suggested between 0.76 and 1.3 Mb from 4 pter, encompassing CTBP1 and CPLX1, and distal to the previously-supposed candidate gene LETM1.
|
24357569 |
2014 |
|
Seizures
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Global developmental delay
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
C-terminal binding protein 1 (CTBP1) is a transcriptional co-repressor of tumor suppressor genes that is activated by low NAD<sup>+</sup> /NADH ratio.
|
30152543 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Our data reveal that the knockout of CtBP1 notably constrains distant metastasis in GC through the JAK1/Stat3 pathway, suggesting that targeting CtBP1 is a practical anti-tumor approach to restrain tumor progression in GC.
|
31308691 |
2019 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In the present study, we observed that the expression of CtBP1 was upregulated in the lung adenocarcinoma tissues of patients with lymph node metastasis and that its overexpression was correlated with tumor differentiation, size and poor overall survival.
|
31059077 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
C-terminal binding protein 1 (CTBP1) is a co-repressor of tumor suppressor genes that is activated by low NAD<sup>+</sup>/NADH ratio.
|
29568399 |
2018 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The discovery of CtBP1 as an NADH regulator in addition to being an NADH sensor shows that CtBP1 is at the center of tumor metabolism and transcription control.
|
30356033 |
2018 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.
|
28955726 |
2017 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
|
27094857 |
2016 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Mechanistically, miR-644a directly targets the transcriptional co-repressor C-Terminal Binding Protein 1 (CTBP1) whose knock-outs by the CRISPR-Cas9 system inhibit tumor growth, metastasis, and drug resistance, mimicking the phenotypes induced by miR-644a.
|
27409664 |
2016 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
C-terminal binding protein 1 (CtBP1) is a co-repressor of tumor suppressor genes that is activated by low NAD+/NADH ratio.
|
26933806 |
2016 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
No significant differences were observed in tumor growth on CD-fed mice; however, we found that only 60% of HFD-fed mice inoculated with CtBP1-depleted cells developed a tumor.
|
24842953 |
2014 |