|
Intellectual Disability
|
0.120 |
GeneticVariation
|
group |
BEFREE |
We identified, by means of whole exome sequencing, a homozygous frameshift mutation in the ARHGEF2 as a cause of intellectual disability, a midbrain-hindbrain malformation, and mild microcephaly in a consanguineous pedigree of Kurdish-Turkish descent.
|
28453519 |
2017 |
|
Intellectual Disability
|
0.120 |
Biomarker
|
group |
BEFREE |
Collybistin (CB), a neuron-specific Rho-GEF responsible for X-linked intellectual disability with epilepsy, also interacts with eIF3, and its binding partner gephyrin associates with mTOR.
|
25898924 |
2016 |
|
Adenocarcinoma
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Polyclonal p40 yields a level of false positivity in ACAs similar to p63, which is highest in effusions and is not limited to lung origin.
|
28498881 |
2017 |
|
Adenocarcinoma
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spatial proximity between bronchus and ALK-rearranged tumors and frequent solid histologic subtype with p63 expression may cause diagnostic difficulties to differentiate squamous cell carcinoma in the small biopsy, whereas p40 was rarely expressed in ALK-rearranged adenocarcinoma.
|
24194854 |
2013 |
|
Adenocarcinoma
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Once a broad tumor class is established, more specific differentiation markers can be pursued (e.g., lineage-restricted transcription factors for adenocarcinoma; p40 for squamous cell carcinoma; chromogranin A and synaptophysin or INSM1 for neuroendocrine neoplasms).
|
31786484 |
2020 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
Confirmatory fluorescence in-situ hybridization (FISH) using a break-apart probe to the TP63 gene region and immunohistochemistry for p63 and p40 were performed on adenocarcinomas with TP63 rearrangements identified by mate-pair sequencing.
|
25189640 |
2015 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
Diagnostic combinations were p40-/TTF1+ or TTF1- for AD (where p40 was negative, apart from 5/30 AD showing at the best 1-2% tumor cells with low intensity); p40+/TTF1- (p40 strong and by far higher than 50%) for SQC; and p40+/TTF1+ or p40+/TTF1- (p40 strong and less than 50%) for ADSQC.
|
22071786 |
2012 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
We evaluated expression of Sox10 and DOG1 in normal cutaneous adnexa and in 194 primary skin adnexal tumors, and compared their performance in discriminating primary skin adnexal tumors from cutaneous metastatic adenocarcinomas with that of p40 and p63.
|
28394798 |
2017 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
TTF-1 and napsin A IHC stainings had similar specificity but better sensitivity for adenocarcinoma than the mucin stains, but addition of PASD or ABPAS identified more tumors as adenocarcinomas (n = 8 and n = 10, respectively) than napsin A (n = 1) in cases with solid growth that were negative for TTF-1 and p40.
|
30718697 |
2019 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
Utility of p63 and p40 in Distinguishing Polymorphous Adenocarcinoma and Adenoid Cystic Carcinoma.
|
31653135 |
2019 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
Cell differentiation lineages were unveiled by using thyroid transcription factor-1 (TTF1) for adenocarcinoma (ADC) and p40 for squamous cell carcinoma (SQC), dichotomizing immunohistochemistry (IHC) results for TTF1 as negative or positive (whatever its extent) and for p40 as negative, positive, or focal (if <10% of reactive tumor cells).
|
26317919 |
2015 |
|
Adenocarcinoma
|
0.100 |
Biomarker
|
group |
BEFREE |
We characterized captured cells using TTF1 and p40 as immunostaining biomarkers of adenocarcinoma and squamous cell carcinoma, respectively.
|
28298147 |
2017 |
|
Adenocarcinoma
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Herein, we show that the hematopoietic-specific GEF VAV1 is ectopically expressed in primary pancreatic adenocarcinomas due to demethylation of the gene promoter.
|
15652748 |
2005 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Our group previously showed that transfection of the gef gene from Escherichia coli, related to cell-killing functions, may be a novel candidate for cancer gene therapy.
|
18565182 |
2008 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Over-activation of Cdc42 through guanine nucleotide exchange factor (GEF) is a critical event for Cdc42 involved cancer metastasis.
|
30714195 |
2019 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The purpose of the present study was to examine expression of the p40 protein encoded by the first open reading frame of a L1Hs element in normal human breast tissue of patients without malignant breast disease and in nontumor breast tissue adjacent to cancer and to compare it to expression in breast carcinomas.
|
8895199 |
1996 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The guanine nucleotide exchange factor (GEF) epithelial cell transforming sequence 2 (Ect2) has been implicated in cancer.
|
28110998 |
2017 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here we focused on ADP ribosylation factor (Arf) GTPases, which orchestrate a variety of regulatory functions in lipid and membrane trafficking, and their activation by the guanine-nucleotide exchange factor (GEF) Brag2, which controls integrin endocytosis and cell adhesion and is impaired in cancer and developmental diseases.
|
28923919 |
2017 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The finding that GEF protein modulation by HDAC inhibition impacts on cell differentiation may be important for understanding the antitumor mechanism(s) by which HDACi treatment stimulates differentiation in cancer.
|
25494542 |
2015 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We used the MS-36 melanoma cell line as an experimental model to examine the usefulness of the gef gene as a new strategy for cancer therapy.
|
12824883 |
2003 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
PREX2 is a frequently mutated GEF in cancer, and examination of human tumor data showed that PREX2 mutation was associated with high PTEN expression.
|
25829446 |
2015 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The GEF-H1 expression level strongly correlated with p53 status in a panel of 32 cancer cell lines, and GEF-H1 induction caused activation of RhoA.
|
16778209 |
2006 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
GEF-H1 upregulation may contribute to cancer cell migration and invasion and tumor progression.
|
30846413 |
2019 |
|
Malignant Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
This study highlights the unique adaptive changes in MAPK scaffolding proteins (KSR-1, GEF-H1) and in RTK signaling, leading to enhanced PI3K/AKT signaling when the MAPK pathway is inhibited.Mol Cancer Res; 14(10); 1019-29.©2016 AACR.
|
27422710 |
2016 |
|
Malignant Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Interestingly, p40 was involved in the arrest of IL-12 receptor (IL-12R) IL-12Rβ1, but not IL-12Rβ2, in the membrane, and that p40 neutralization induced the internalization of IL-12Rβ1 via caveolin and caused cancer cell death via the IL-12-IFN-γ pathway.
|
29073075 |
2017 |