|
MYELODYSPLASTIC SYNDROME
|
0.010 |
Biomarker
|
group |
BEFREE |
In conclusion, SNP-A can be used successfully in PB samples and the identification of CNA by SNP-A improve the diagnostic and prognostic evaluation of this group of MDS patients.
|
24123380 |
2013 |
|
Medullary carcinoma of thyroid
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A significant higher prevalence of RET CNA was observed in RET mutated MTC (P=0.003).
|
21867742 |
2012 |
|
Small cell carcinoma of lung
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The effect of down regulation of calcineurin Aα by lentiviral vector-mediated RNAi on the biological behavior of small-cell lung cancer and its bone metastasis.
|
21785830 |
2011 |
|
Secondary malignant neoplasm of bone
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The effect of down regulation of calcineurin Aα by lentiviral vector-mediated RNAi on the biological behavior of small-cell lung cancer and its bone metastasis.
|
21785830 |
2011 |
|
Inflammatory Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
However, IBCs showed more frequent "complex" patterns and a higher percentage of genes with CNAs per sample.
|
21339811 |
2011 |
|
Addictive Behavior
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Fine mapping of calcineurin (PPP3CA) gene reveals novel alternative splicing patterns, association of 5'UTR trinucleotide repeat with addiction vulnerability, and differential isoform expression in Alzheimer's disease.
|
20590401 |
2010 |
|
Schizophrenia
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
|
19034380 |
2009 |
|
Arthritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Virulence potential of the staphylococcal adhesin CNA in experimental arthritis is determined by its affinity for collagen.
|
15181582 |
2004 |
|
Arthritis, Infectious
|
0.010 |
Biomarker
|
group |
BEFREE |
We examined the role of the collagen-binding function of CNA in a mouse model of septic arthritis by comparing the virulence of isogenic strains of S. aureus expressing (1) wild-type CNA, (2) a truncated form of CNA (CNA35) with a higher affinity for collagen than the wild type, (3) CNA35 containing a single point mutation resulting in loss of collagen binding, (4) CNA lacking the collagen-binding domain, and (5) the collagen-binding domain of ACE (adhesin of collagen from Enterococcus faecalis).
|
15181582 |
2004 |
|
Arthritis, Bacterial
|
0.010 |
Biomarker
|
group |
BEFREE |
We examined the role of the collagen-binding function of CNA in a mouse model of septic arthritis by comparing the virulence of isogenic strains of S. aureus expressing (1) wild-type CNA, (2) a truncated form of CNA (CNA35) with a higher affinity for collagen than the wild type, (3) CNA35 containing a single point mutation resulting in loss of collagen binding, (4) CNA lacking the collagen-binding domain, and (5) the collagen-binding domain of ACE (adhesin of collagen from Enterococcus faecalis).
|
15181582 |
2004 |
|
Dendritic cell neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
The dendritic cell neoplasm exhibited reactivity with CNA-42, but nonreactivity for CD21, CD35, smooth muscle actin, desmin, and epithelial membrane antigen (EMA).
|
11127925 |
2000 |
|
Congenital contractural arachnodactyly
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
PPP3CA was expressed in the cytoplasm of carcinoma cells in 22 cases (24.2%) of 91 CCA patients.
|
31417643 |
2019 |
|
Congenital contractural arachnodactyly
|
0.020 |
Biomarker
|
disease |
BEFREE |
Key genes of SOX2, KIT, PRSS56, WNT9A, SLC4A4, PRRG4, PANX2, PIR, RASSF8, MFSD4A, INS, RNF39, IL1R2, CST1, and PPP3CA might be potential prognostic markers for CCA, of which RNF39 and PRSS56 also showed significant correlation with clinical stage.
|
31687280 |
2019 |
|
Dysmorphic features
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Recently de novo PPP3CA variants were reported as a cause of disease in 12 subjects presenting with epileptic encephalopathy and dysmorphic features.
|
30254215 |
2019 |
|
Dysmorphic features
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
By pooling genetic findings across multiple studies, we have identified six individuals with severe developmental delay (6/6), refractory seizures (5/6), and similar dysmorphic features (3/6), each harboring a de novo mutation in PPP3CA.
|
28942967 |
2017 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.020 |
Biomarker
|
disease |
BEFREE |
More importantly, the endogenous threonine 44 (T44)-phosphorylated form of C16orf74 interacted with the protein phosphatase 3 catalytic subunit alpha (PPP3CA) via the PDIIIT sequence in the PPP3CA-binding motif within the middle portion of C16orf74 in PDAC cells.
|
28881575 |
2017 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
LincRNA1611 and Ppp3ca were high expression in PDAC and may serve as new potential targets for intervention of the disease.
|
24469904 |
2015 |
|
Alzheimer's Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Novel alternatively spliced isoforms of PPP3CA were identified and their expressions were found altered in brain regions of postmortem Alzheimer's disease patients.
|
20590401 |
2010 |
|
Alzheimer's Disease
|
0.020 |
AlteredExpression
|
disease |
LHGDN |
Truncation and activation of calcineurin A by calpain I in Alzheimer disease brain.
|
16150694 |
2005 |
|
Epilepsy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Our results confirm the role of PPP3CA defects in pathogenesis of a distinct neurodevelopmental disorder including severe epilepsy and dysmorphism and provide further functional clues regarding the pathogenic mechanism.
|
30254215 |
2019 |
|
Epilepsy
|
0.030 |
Biomarker
|
disease |
BEFREE |
We confirmed PPP3CA as a substrate of the C2-lacking Nedd4-2 and showed that all three epilepsy-associated missense mutations of Nedd4-2 disrupted PPP3CA ubiquitination.
|
31357244 |
2019 |
|
Epilepsy
|
0.030 |
Biomarker
|
disease |
BEFREE |
Based on these findings, we securely implicate PPP3CA in early-onset refractory epilepsy and further support the emerging role for synaptic dysregulation in epilepsy.
|
28942967 |
2017 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Survival differences of CIMP subtypes integrated with CNA information in human breast cancer.
|
28415743 |
2017 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
The oncogenetic tree model was built on CNV of ErbB2, AKT2, KRAS, PIK3CA, PTEN, and CCND1 genes in 963 cases of tumors with sequencing and CNA data of human breast cancer from TCGA.
|
27190992 |
2016 |
|
Breast Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Even though an association of the polymorphisms rs2850328 and rs2395 and breast cancer was not detected in our case-control study population, other variants within the PPP3CA and MARK4 genes may still be associated with breast cancer, as both genes are implicated with processes involved in the disease as well as their mutual partaking in the Wnt signaling pathway.
|
22506312 |
2011 |