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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
|
19463982 |
2009 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
|
19463982 |
2009 |
Bowen-Conradi syndrome
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Bowen-Conradi syndrome
|
0.960 |
Biomarker
|
disease |
CTD_human |
|
|
|
HIV Infections
|
0.300 |
Biomarker
|
group |
CTD_human |
Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency.
|
15308739 |
2004 |
HIV Coinfection
|
0.300 |
Biomarker
|
disease |
CTD_human |
Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency.
|
15308739 |
2004 |
Fatty acid measurement
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.
|
25500335 |
2015 |
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Micrognathism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Joint stiffness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Small for gestational age (disorder)
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormal joint morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|