COFFIN-SIRIS SYNDROME 7
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined.
|
31706665 |
2020 |
Coffin-Siris syndrome
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
We add the clinical description of another patient with a novel mutation in DPF2, with a mild phenotype, thus trying to contribute to enlarge CSS phenotypic variability.
|
31706665 |
2020 |
Coffin-Siris syndrome
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Altogether, we provide compelling evidence that de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity.
|
29429572 |
2018 |
Coffin-Siris syndrome
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
This individual further broadens the phenotypic features of DPF2-related CSS, as well as CSS more generally.
|
31207137 |
2019 |
Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mechanistic and functional studies were performed to elucidate the role of our top candidate splice variant, BAF45d, in glioblastoma.
|
29373718 |
2018 |
Glioma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The BAF45d/6A isoform is present in 85% of over 200 glioma samples that have been analyzed and contributes to the malignant glioma phenotype through the maintenance of an undifferentiated cellular state.
|
29373718 |
2018 |
Influenza
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study provides evidence that influenza virus utilizes DPF2 to escape host innate immunity.
|
28404846 |
2017 |
Virus Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Because DPF2 plays a crucial role in the noncanonical NF-κB pathway, which negatively regulates type I interferon (IFN) induction, we examined the relationship between DPF2 and IFN responses during viral infection.
|
28404846 |
2017 |
Acquired aplastic anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
However, expression of SMARCA4, SMARCB1, SMARCD3, and DPF2 remained intact in our AA cohort.
|
29596882 |
2018 |
Adult Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mechanistic and functional studies were performed to elucidate the role of our top candidate splice variant, BAF45d, in glioblastoma.
|
29373718 |
2018 |
Childhood Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mechanistic and functional studies were performed to elucidate the role of our top candidate splice variant, BAF45d, in glioblastoma.
|
29373718 |
2018 |
Glioblastoma Multiforme
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mechanistic and functional studies were performed to elucidate the role of our top candidate splice variant, BAF45d, in glioblastoma.
|
29373718 |
2018 |
Influenza A
|
0.010 |
Biomarker
|
disease |
BEFREE |
We also found that DPF2 was involved in the replication of seasonal influenza A and B viruses.
|
28404846 |
2017 |
COFFIN-SIRIS SYNDROME 7
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Poor school performance
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
|
29429572 |
2018 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
|
29429572 |
2018 |
Uric acid measurement (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
|
31578528 |
2019 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
Blepharoptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cleft Palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Constipation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dandy-Walker Syndrome
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fetal Growth Retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|