|
Abnormal joint morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal lung lobation
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of cardiovascular system morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Adenocarcinoma, Clear Cell
|
0.010 |
Biomarker
|
disease |
BEFREE |
A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma.
|
30826751 |
2019 |
|
Adenocarcinoma, Endometrioid
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma.
|
30826751 |
2019 |
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
MGD |
Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.
|
25708872 |
2015 |
|
Bowen-Conradi syndrome
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Bowen-Conradi syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
We identified variant NM_006331.6:c.400A-->G, p.D86G in the 18S ribosome assembly protein EMG1 as the probable cause of BCS.
|
19463982 |
2009 |
|
Bowen-Conradi syndrome
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
The BCS mutation in EMG1 leads to reduced nucleolar localisation, accumulation of EMG1D86G in nuclear foci and its proteasome-dependent degradation.
|
27798105 |
2016 |
|
Bowen-Conradi syndrome
|
0.960 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, the Nep1 methyltransferase activity is not affected upon introduction of the BCS mutation.
|
20972225 |
2011 |
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
|
19463982 |
2009 |
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
|
30914295 |
2019 |
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
BEFREE |
To begin to understand the role of EMG1 in mammalian development, and how its deficiency could lead to Bowen-Conradi syndrome, we have used mouse as a model.
|
20858271 |
2010 |
|
Bowen-Conradi syndrome
|
0.960 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
|
19463982 |
2009 |
|
Bowen-Conradi syndrome
|
0.960 |
AlteredExpression
|
disease |
BEFREE |
These embryos exhibited dramatically reduced cell proliferation, which we also detected in autopsy brain tissue and bone marrow of BCS patients, consistent with a requirement for high levels of EMG1 in tissues with rapid cell proliferation.
|
25708872 |
2015 |
|
Bowen-Conradi syndrome
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
|
19463982 |
2009 |
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment.
|
27798105 |
2016 |
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
BEFREE |
Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS).
|
24240090 |
2014 |
|
Carcinoma, Endometrioid
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma.
|
30826751 |
2019 |
|
Carcinosarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma.
|
30826751 |
2019 |
|
Cerebral ventriculomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cerebrovascular accident
|
0.010 |
Biomarker
|
group |
BEFREE |
Seven days after stroke, the following treatments were initiated and continued for 3 weeks: forced limb use in constraint-induced movement therapy rats (constraint-induced movement therapy group), intraperitoneal infusion of fasudil (a ROCK inhibitor) in fasudil rats (fasudil group), or lateral ventricular injection of NEP1-40 (a specific antagonist of the Nogo-66 receptor) in NEP1-40 rats (NEP1-40 group).
|
31169192 |
2019 |
|
Childhood Kidney Wilms Tumor
|
0.040 |
Biomarker
|
disease |
BEFREE |
With over-expression and knockdown of miR-190b in WT-derived cell line SK-NEP-1, we next studied cell proliferation, cell circle, apoptosis, invasion and migration abilities change caused by miR-190b ectopic expression.
|
29509256 |
2018 |
|
Childhood Kidney Wilms Tumor
|
0.040 |
Biomarker
|
disease |
BEFREE |
We describe the use of gene expression profiling to show that SK-NEP-1, a cell line previously thought to represent anaplastic Wilms tumor, is instead related to Ewing sarcoma.
|
17154184 |
2008 |