ACTIVATED PI3K-DELTA SYNDROME
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Diffuse Large B-Cell Lymphoma
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
Bronchiectasis
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Immunologic Deficiency Syndromes
|
0.160 |
Biomarker
|
group |
HPO |
|
|
|
Lymphadenopathy
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Lymphadenopathy
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Global developmental delay
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cellulitis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hepatosplenomegaly
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Splenomegaly
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Thrombocytopenia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Recurrent ear infections
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Recurrent sinopulmonary infections
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
T-Lymphocytopenia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Specific pneumococcal antibody deficiency
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased proportion of transitional B cells
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Decreased proportion of class-switched memory B cells
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Rous Sarcoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
However, a drastically different binding specificity was observed with use of extracts of Rous sarcoma virus v-src-transformed cells, in which the majority of PI3K activity bound to the SH2 domain of p56lck in a phosphotyrosine-dependent manner.
|
7504174 |
1993 |
Leukemia, Mast-Cell
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In a human mast cell leukemia cell line HMC-1, c-kitR was found to be constitutively phosphorylated on tyrosine, activated, and associated with PI3K without the addition of SCF.
|
7691885 |
1993 |
HER2 gene amplification
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data indicate that PI3K may be an especially important mediator of HRG-induced proliferation in mammary epithelial cells and is involved in the autonomous proliferation of growth factor-independent breast carcinoma cells with c-erbB-2 gene amplification.
|
8732665 |
1996 |
Invasive Ductal Breast Carcinoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
HRG was found to potently induce the recruitment of the M(r) 85,000 regulatory subunit of PI3K by phosphotyrosine proteins in both nonneoplastic H16N-2 mammary epithelial cells (which express normal c-erbB-2 levels) and in the 21MT-2 and 21MT-1 cell lines, which were all isolated from a single patient with intraductal and invasive ductal carcinoma of the breast and express c-erbB-3 but not c-erbB-4 in culture.
|
8732665 |
1996 |
Ataxia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The aim of this minireview is to report, discuss, and interpret some recent observations on this topic: (I) The relationship with the Ataxia-Telangectasia gene and with the signaling enzyme phosphatidylinositol 3-kinase (PI3K).
|
9367792 |
1997 |
Cerebellar Ataxia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The aim of this minireview is to report, discuss, and interpret some recent observations on this topic: (I) The relationship with the Ataxia-Telangectasia gene and with the signaling enzyme phosphatidylinositol 3-kinase (PI3K).
|
9367792 |
1997 |
Glioma
|
0.100 |
Biomarker
|
disease |
BEFREE |
PI-3-K stimulation seems to be critical for CD95 receptor signalling since, first, inhibition of PI-3-K prevents CD95-mediated apoptosis and, second, CD95 receptor ligation fails to induce tyrosine phosphorylation or activation of PI-3-K in CD95-resistant glioma cells.
|
9446703 |
1998 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus, PI-3-K activation may be an early signalling event during CD95-induced apoptosis, and failure to stimulate PI-3-K may predict tumor cell resistance to CD95-triggered apoptosis.
|
9446703 |
1998 |