|
Abnormal behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Akap13 haploinsufficiency led to sex-dependent, compulsive-like behavioral changes in a murine model.
|
29653158 |
2018 |
|
Acute monocytic leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
AML-LBC cases had little or no hematopoietic dysplasia.
|
9009082 |
1997 |
|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In the colorectal cancer, AKAP13 and ROCK1/2 were highly expressed in adenocarcinoma compared to the control tissue and low-grade dysplasia.
|
28434818 |
2017 |
|
Adult T-Cell Lymphoma/Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The mechanism of p47 degradation is primarily dependent on activation of lysosomal-autophagy and the autophagy is activated in most of the HTLV-infected and ATLL cells, suggesting that the p47 degradation may be a first key molecular event during HTLV-1 infection to T-cells as a connector of two important signaling pathways, NF-κB and autophagy.
|
30837480 |
2019 |
|
Asthma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Mice lacking functional NADPH oxidases due to knockout of p47 and mice with epithelial-targeted transgenic expression of a CaMKII inhibitory peptide or wild-type mice treated with inhaled KN-93, an experimental small-molecule CaMKII antagonist, were protected against increases in ICl, MUC5AC expression, and airway hyperreactivity to inhaled methacholine.
|
23884469 |
2013 |
|
Birth Weight
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
|
31043758 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Breast Cancer, Familial
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58).
|
16956908 |
2007 |
|
Breast Cancer, Familial
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer.
|
16234258 |
2006 |
|
Breast Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005).
|
16956908 |
2007 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Furthermore, the significant modulation and good diagnostic performances of glutamate, N-acetyl glycoprotein and Lactate in LBC as compared to EBC give their significance in the BC progression.
|
30059813 |
2018 |
|
Breast Carcinoma
|
0.030 |
PosttranslationalModification
|
disease |
BEFREE |
We show that the PKA-anchoring protein AKAP13 is essential for the phosphorylation of ERαS305, which leads to tamoxifen resistance both in cell lines and tamoxifen-treated breast cancer patients.
|
26272591 |
2015 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear.
|
17918192 |
2008 |
|
Carcinogenesis
|
0.040 |
AlteredExpression
|
phenotype |
BEFREE |
Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis.
|
26578795 |
2015 |
|
Carcinogenesis
|
0.040 |
AlteredExpression
|
phenotype |
BEFREE |
These data suggest that AKAP13 was expressed in relation with ROCK1/2, which probably play an overall role in both mucosal healing and tumorigenesis.
|
28434818 |
2017 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear.
|
18381585 |
2008 |
|
Carcinoma breast stage IV
|
0.010 |
Biomarker
|
disease |
BEFREE |
Plasma levels of ALU 115 and ALU 247 were significantly higher in patients with locally confined (LBC; N = 65), metastatic breast cancer (MBC; N = 47), and benign diseases (N = 12) than in healthy controls (p < 0.001 for all comparisons).
|
24018822 |
2014 |
|
Cervical intraepithelial neoplasia grade 2
|
0.010 |
Biomarker
|
disease |
BEFREE |
AHPV had the highest absolute risk of both histological endpoints, and detects 5% to 15% more CIN3+ and CIN2+ lesions, respectively, than LBC.
|
22233689 |
2012 |
|
Childhood Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The general aim of the LBC ONC is to improve treatment of hematopoietic neoplasms by eradicating cancer-initiating and disease-propagating cells, also known as leukemic stem cells (LSC) in the context of leukemia.
|
30006759 |
2018 |
|
Cholera
|
0.010 |
Biomarker
|
disease |
BEFREE |
In mouse immunization experiments, intranasal immunization with rec47 alone or with rec47 plus heat-labile enterotoxin B subunit from <i>Escherichia coli</i> or plus cholera toxin (CT) as adjuvants induced a higher amount of rec47-specific antibodies than intramuscular immunization with p47 alone or with p47 plus pBOOST2-samIRF7/3 (pB) as adjuvant.
|
28719308 |
2017 |
|
Chromophobe Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma.
|
22138691 |
2011 |
|
Chronic granulomatous disease
|
0.020 |
AlteredExpression
|
group |
BEFREE |
This observation suggests that patients with CGD may also have a defect in lymphocyte function. p47 protein and mRNA levels increase during retinoic acid-induced neutrophil differentiation of HL60 cells.
|
2398896 |
1990 |
|
Chronic granulomatous disease
|
0.020 |
GeneticVariation
|
group |
BEFREE |
A male CGD patient with pg91(phox) deficiency exhibited a trend toward prolongation of this calcium response, whereas two other CGD patients (one with p47 and one with 67(phox) deficiencies) had normal calcium transients.
|
15527168 |
2004 |
|
Cirrhosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We used LBC, based on SurePathTM (BD Diagnostics) technology, to screen 96 peritoneal fluid samples from patients with known malignancies and from 10 control patients with cirrhosis.
|
30024911 |
2018 |
|
Colitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
These results suggested that AKAP13 and ROCK are involved in mucosal response at early injury and restitution during healing in DSS-induced colitis in mice.
|
28535907 |
2017 |