|
Abnormal prolactin level
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of cardiovascular system morphology
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of secondary sexual hair
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the cranial nerves
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Absence of secondary sex characteristics
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Absent nares
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Adenocarcinoma
|
0.020 |
AlteredExpression
|
group |
BEFREE |
We selected nasal and sinonasal adenocarcinomas to investigate the expression of OTX1 and OTX2 genes through immunohistochemical and real-time PCR analyses.Both OTX1 and OTX2 were absent in all the samples of sinonasal Intestinal-Type Adenocarcinomas (ITACs).
|
30882801 |
2019 |
|
Adenocarcinoma
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Interestingly, no expression of both OTX genes were detected in sinonasal intestinal-type adenocarcinomas; only OTX1 was found in non-intestinal-type adenocarcinomas and OTX2 was selectively expressed in olfactory neuroblastomas.
|
28348423 |
2017 |
|
Adenocarcinoma of lung (disorder)
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our study reveals that DMBX1 plays an oncogenic role in LUAD by repressing OTX2-mediated transcription of p21 and the results may provide new therapeutic targets for LUAD patients.
|
30928384 |
2019 |
|
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
OTX2 mutations can cause ACTH deficiency in the neonatal period.
|
27299576 |
2016 |
|
Adult Ependymoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Unlike other ependymomas, PFA-2c tumors express high levels of OTX2, a potential biomarker for this ependymoma subtype with a good prognosis.
|
29909548 |
2018 |
|
Adult Hodgkin Lymphoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
In Hodgkin lymphoma (HL) we recently identified deregulated expression of homeobox genes MSX1 and OTX2 which are physiologically involved in development of the embryonal neural plate border region.
|
26473286 |
2015 |
|
Adult Hodgkin Lymphoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Comparative expression profiling and subsequent pathway modulations in HL cell lines indicated that aberrantly enhanced FGF2-signalling activates the expression of OTX2.
|
26406991 |
2015 |
|
Adult Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Otx2 promotes granule cell precursor proliferation and Shh-dependent medulloblastoma maintenance in vivo.
|
30100614 |
2018 |
|
Adult Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
This work characterizes for the first time the mechanisms of OTX2 overexpression in medulloblastoma.
|
25198066 |
2014 |
|
Adult Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Five differentially expressed genes in medulloblastoma (GLI1, SPHK1, SHROOM2, PDLIM3, and OTX2) were found to associate with Hh pathway activation status.
|
25473003 |
2015 |
|
Adult Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
OTX2 transcript was highly and specifically expressed in medulloblastoma or developing cells.
|
15705863 |
2005 |
|
Adult Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
We generated D425 medulloblastoma cells in which endogenous OTX2 can be silenced by inducible shRNA.
|
21964830 |
2012 |
|
Adult Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The OTX2 gene was amplified in the medulloblastoma cell line D425 and mRNA and protein data showed expression in 114 of 152 medulloblastomas (75%), but not in postnatal cerebellum.
|
16462208 |
2006 |
|
Adult Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our studies thus show that OTX2 controls the regulatory landscape of Group 3 medulloblastoma through cooperative activity at enhancer elements and contributes to the expression of critical target genes.<b>Significance:</b> The gene regulation mechanisms that drive medulloblastoma are not well understood.
|
28213356 |
2017 |
|
Adult Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Moreover, OTX2 is a known oncogenic driver in medulloblastoma, a condition that was diagnosed in the proband during the course of the study.
|
24816892 |
2014 |
|
Adult Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Conversely, inducing myogenic conversion of medulloblastoma cells led to the loss of OTX2 expression.
|
22986744 |
2012 |
|
Adult Medulloblastoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
By contrast, OTX2 is oncogenic and promotes self-renewal of trans-hENs and Groups 3 and 4 MB independent of pluripotent gene expression.
|
26398939 |
2015 |
|
Adult Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In addition, OTX2 expression might be a predictive factor for leptomeningeal metastases of medulloblastoma.
|
30797919 |
2019 |
|
Adult Medulloblastoma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our data suggest an important functional interaction between OTX2 and MYC in regulating gene expression in medulloblastoma.
|
22016811 |
2011 |