Kallmann Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Nasal embryonic LHRH factor (NELF) and early B-cell factor 2 (EBF2) exons were evaluated in KAL-1/GnRH-R mutation-negative cases (seven KS and five nHH) by sequence analysis but no mutations were identified in the coding regions in these patients.
|
16423815 |
2005 |
Osteosarcoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
EBF2 up-regulation may be one of the mechanisms involved in the high levels of OPG in osteosarcoma, contributing to decrease TRAIL-induced apoptosis and leading to TRAIL resistance.
|
19671856 |
2009 |
Osteosarcoma of bone
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
EBF2 up-regulation may be one of the mechanisms involved in the high levels of OPG in osteosarcoma, contributing to decrease TRAIL-induced apoptosis and leading to TRAIL resistance.
|
19671856 |
2009 |
Childhood Osteosarcoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
EBF2 up-regulation may be one of the mechanisms involved in the high levels of OPG in osteosarcoma, contributing to decrease TRAIL-induced apoptosis and leading to TRAIL resistance.
|
19671856 |
2009 |
Blast Phase
|
0.010 |
PosttranslationalModification
|
disease |
BEFREE |
In chronic myeloid leukemia (CML) two of the genes, (TFAP2A and EBF2), demonstrated increased methylation in blast crisis compared to chronic phase (P < 0.05).
|
20184741 |
2010 |
Myeloid Leukemia, Chronic
|
0.010 |
Biomarker
|
disease |
BEFREE |
In chronic myeloid leukemia (CML) two of the genes, (TFAP2A and EBF2), demonstrated increased methylation in blast crisis compared to chronic phase (P < 0.05).
|
20184741 |
2010 |
Peripheral Neuropathy
|
0.010 |
Biomarker
|
group |
BEFREE |
To get insight into Ebf2 function in peripheral nervous system, here we characterize the peripheral neuropathy affecting these mice.
|
21220016 |
2011 |
Peripheral motor neuropathy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- mice.
|
21220016 |
2011 |
Peripheral Nervous System Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
To get insight into Ebf2 function in peripheral nervous system, here we characterize the peripheral neuropathy affecting these mice.
|
21220016 |
2011 |
Malignant neoplasm of prostate
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
|
23535732 |
2013 |
Prostate carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
|
23535732 |
2013 |
Diabetes
|
0.020 |
Biomarker
|
disease |
BEFREE |
We demonstrate upregulation of the Knot ortholog EBF2 in glomeruli of human diabetic nephropathy patients and a mouse ob/ob diabetes model.
|
26190114 |
2015 |
Diabetes Mellitus
|
0.020 |
Biomarker
|
group |
BEFREE |
We demonstrate upregulation of the Knot ortholog EBF2 in glomeruli of human diabetic nephropathy patients and a mouse ob/ob diabetes model.
|
26190114 |
2015 |
Hernia, Inguinal
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.
|
26686553 |
2015 |
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
|
27841878 |
2017 |
Diabetes
|
0.020 |
Biomarker
|
disease |
BEFREE |
Overall, the study highlights the existence of novel regulatory mechanisms between Id1/PGC1α and Id1/Ebf2 in controlling brown fat metabolism, which has significant implications in the treatment of obesity and its associated diseases, such as diabetes.
|
28270523 |
2017 |
Diabetes Mellitus
|
0.020 |
Biomarker
|
group |
BEFREE |
Overall, the study highlights the existence of novel regulatory mechanisms between Id1/PGC1α and Id1/Ebf2 in controlling brown fat metabolism, which has significant implications in the treatment of obesity and its associated diseases, such as diabetes.
|
28270523 |
2017 |
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
Overall, the study highlights the existence of novel regulatory mechanisms between Id1/PGC1α and Id1/Ebf2 in controlling brown fat metabolism, which has significant implications in the treatment of obesity and its associated diseases, such as diabetes.
|
28270523 |
2017 |
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
|
28739976 |
2017 |
Dupuytren Contracture
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.
|
28886342 |
2017 |
Breast Carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
Anus, Imperforate
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val).
|
29704291 |
2018 |
Anus, Imperforate
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val).
|
29704291 |
2018 |
Anorectal Malformations
|
0.010 |
GeneticVariation
|
group |
BEFREE |
These results support that missense mutation in the EBF2 c.215C > T (p.Ala72Val) is very likely to contribute to the pathogenesis of ARM in this family.
|
29704291 |
2018 |
Mucocutaneous Lymph Node Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The present study investigated the association between KD and single nucleotide polymorphisms (SNPs) in the candidate gene early B cell factor 2 (EBF2), which is associated with inflammation markers.
|
29749135 |
2018 |