Prune Belly Syndrome
|
0.650 |
Biomarker
|
disease |
BEFREE |
Animals received four weekly injections of either PBS (G1), ConvitVax (200 μg cell homogenate, 0.0625 mg BCG, 0.02% formalin) (G2), 50 μg anti-PD-1 (G3), or ConvitVax plus anti-PD-1 (200 μg cell homogenate, 0.0625 mg BCG, 0.02% formalin, 50 μg anti-PD-1) (G4).
|
31762937 |
2019 |
Prune Belly Syndrome
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Finally, in a murine model of type 1 diabetes, NTA-modified complex micelles loading an insulin (NTA-CM-INS) group exhibited a long hypoglycemic effect which is superior to that of free insulin in the PBS (PBS-INS) group and insulin-loaded complex micelles without an NTA modification (CM-INS) group.
|
30212220 |
2018 |
Prune Belly Syndrome
|
0.650 |
Biomarker
|
disease |
BEFREE |
T2DM mouse model was induced by high-fat-diet, and the mice were treated with fenofibrate (100 mg/kg) (DIO-FENO) or PBS (DIO-PBS) for 4 weeks.
|
29029615 |
2017 |
Prune Belly Syndrome
|
0.650 |
Biomarker
|
disease |
BEFREE |
Here, we employed BALB/c ByJ mice inflected with SP, IAV, IAV followed by SP (IAV+SP) and PBS (Control) as models to survey the global gene expression using digital gene expression (DGE) profiling.
|
29348862 |
2017 |
Prune Belly Syndrome
|
0.650 |
GermlineCausalMutation
|
disease |
ORPHANET |
We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease.
|
22077972 |
2011 |
Prune Belly Syndrome
|
0.650 |
Biomarker
|
disease |
CTD_human |
We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease.
|
22077972 |
2011 |
Prune Belly Syndrome
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Prune Belly Syndrome
|
0.650 |
Biomarker
|
disease |
HPO |
|
|
|
Prune Belly Syndrome
|
0.650 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Major Depressive Disorder
|
0.410 |
GeneticVariation
|
disease |
GWASCAT |
GWAS and systems biology analysis of depressive symptoms among smokers from the COPDGene cohort.
|
30219690 |
2019 |
Major Depressive Disorder
|
0.410 |
AlteredExpression
|
disease |
BEFREE |
We used this assay to measure CHRM3 protein levels in the frontal pole, obtained post-mortem from subjects with bipolar disorder (n = 15), major depressive disorder (n = 15) and matched controls (n = 20) and showed that [(3)H]4-DAMP binding was not altered in either bipolar disorder or major depressive disorder.
|
23962466 |
2013 |
Cryptorchidism
|
0.400 |
Biomarker
|
disease |
CTD_human |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Cryptorchidism
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Urinary Bladder Diseases
|
0.320 |
GeneticVariation
|
group |
BEFREE |
This is the first independent report of biallelic variants in CHRM3 in a family with a rare serious bladder disorder associated with mydriasis and provides important evidence of this association.
|
31441039 |
2019 |
Urinary Bladder Diseases
|
0.320 |
GeneticVariation
|
group |
BEFREE |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Urinary Bladder Diseases
|
0.320 |
Biomarker
|
group |
CTD_human |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Bipolar Disorder
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
We used this assay to measure CHRM3 protein levels in the frontal pole, obtained post-mortem from subjects with bipolar disorder (n = 15), major depressive disorder (n = 15) and matched controls (n = 20) and showed that [(3)H]4-DAMP binding was not altered in either bipolar disorder or major depressive disorder.
|
23962466 |
2013 |
Unipolar Depression
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
We used this assay to measure CHRM3 protein levels in the frontal pole, obtained post-mortem from subjects with bipolar disorder (n = 15), major depressive disorder (n = 15) and matched controls (n = 20) and showed that [(3)H]4-DAMP binding was not altered in either bipolar disorder or major depressive disorder.
|
23962466 |
2013 |
Mood Disorders
|
0.310 |
AlteredExpression
|
group |
BEFREE |
The use of a modified [3H]4-DAMP radioligand binding assay with increased selectivity for muscarinic M3 receptor shows that cortical CHRM3 levels are not altered in mood disorders.
|
23962466 |
2013 |
Urethral obstruction sequence
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Bilateral Cryptorchidism
|
0.300 |
Biomarker
|
disease |
CTD_human |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Unilateral Cryptorchidism
|
0.300 |
Biomarker
|
disease |
CTD_human |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Abdominal Cryptorchidism
|
0.300 |
Biomarker
|
disease |
CTD_human |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Inguinal Cryptorchidism
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
|
22077972 |
2011 |
Ascites
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Only AOM-treated Chrm3(-/-) mice developed ascites and had reduced survival compared with AOM-treated wild-type controls.
|
20197374 |
2010 |