Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
AEBN and arecoline induced dyslipidemia by downregulating AMPK (Thr-172) and activating ACC (Ser-79); they also downregulated tumor suppressor p53 (Ser-15).
|
31645006 |
2019 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic analysis of MEN1 and other ACC associated genes, loss of heterozygosity (LOH) of MEN1 locus, immunohistochemistry staining of menin, P53 and β-catenin in ACC tissue were performed.
|
30721134 |
2019 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
We searched for possible TP53 gene defects and assessed nationwide incidence of ACC.
|
30980285 |
2019 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among them, <i>β</i>-catenin gene CTNNB1 and TP53 gene are frequently mutated in ACC samples.
|
31057613 |
2019 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This TP53 gene mutation may be pathogenic and lead to composite malignancies of ACC and neuroblastoma.
|
29746440 |
2019 |
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These data indicate that combined assessment of ATM and p53 expression can serve as a useful prognostic marker for assessing survival rate in patients with ACC of the salivary glands.
|
29978608 |
2018 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
RYGB significantly attenuated the activation of mTORC1 signaling and inhibition of tumor suppressor genes: p21, p27, and p53 in pancreatic ACC.
|
30305629 |
2018 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The low rate of cure of adrenocortical carcinomas (ACC) in children and adults is related to germ line TP53 mutation, late diagnosis, incomplete surgical resection, and lack of an efficient adjunctive therapy.
|
29372993 |
2017 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we evaluated the antitumor effect of a novel small-molecule inhibitor of the MDM2-p53 interaction (MI-773) combined with cisplatin in patient-derived xenograft (PDX) ACC tumors.<b>Experimental Design:</b> Therapeutic strategies with MI-773 and/or cisplatin were evaluated in SCID mice harboring PDX ACC tumors (UM-PDX-HACC-5) and in low passage primary human ACC cells (UM-HACC-2A, -2B, -5, -6) <i>in vitro</i> The effect of therapy on the fraction of cancer stem cells (CSC) was determined by flow cytometry for ALDH activity and CD44 expression.<b>Results:</b> Combined therapy with MI-773 with cisplatin caused p53 activation, induction of apoptosis, and regression of ACC PDX tumors.
|
27550999 |
2017 |
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Enrichment analysis for mRNA expression in ACC samples with or without HSD17B4 overexpression showed significant change in p53 pathway.
|
29383116 |
2017 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Posttreatment analysis revealed that although both AMG 232 and radiotherapy alone induced TP53 tumor-suppressive activities, combination therapy amplified this response with potent induction of apoptosis after combination treatment.<b>Conclusions:</b> These data identify that MDM2 inhibition can provide potent radiosensitization in TP53-WT ACC.
|
28659312 |
2017 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Adrenocortical carcinomas (ACC) are very rare tumors related to TP53 mutations mostly in childhood onset cases.
|
28421464 |
2017 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we have shown that Wnt/β-catenin signaling pathway dysregulation and mutational inactivation of TP53 are common genetic events in sarcomatoid ACCs, a subset of which being monoclonal in origin.
|
27589897 |
2016 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FISH analysis revealed deletion of the TP53 region in 53 % of primary ACCs and in 50 % of metastases.
|
26586531 |
2016 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recent description of the molecular landscape of pediatric ACCs provided insight into differences of tumors arising in patients with and without TP53 germline mutation.
|
26660147 |
2016 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis.
|
27663983 |
2016 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in ACC-associated genes included TP53 (8/41 tumors, 19.5%) and CTNNB1 (4/41, 9.8%).
|
25490274 |
2015 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The TP53 mutation detection rate in children presenting with ACC or choroid plexus carcinomas, and in females with breast cancer before age 31 years, without additional features indicative of LFS, was 45%, 42% and 6%, respectively.
|
26014290 |
2015 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We provide a genotype-phenotype analysis of TP53 mutations in pediatric ACC and propose a model for tissue-specific effects based on adrenocortical ontogeny.
|
25584008 |
2015 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Akin to other forms of TNBC, the most frequently mutated gene found in breast ACCs was TP53 (one pure and six mixed cases).
|
26011570 |
2015 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
We thus aimed at analyzing whether activation of mTOR with a concomitant loss of p53 may initiate ACC.
|
26683340 |
2015 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of the role of TP53 polymorphisms in adult patients with ACC.
|
24566897 |
2014 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe the phenotype and long-term clinical follow-up of a female child diagnosed with ACC and homozygous for the TP53 p.R337H founder mutation.
|
23570263 |
2013 |
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical examination of the ACC revealed a triple negative status (i.e., negativity for estrogen receptor, progesterone receptor and HER2 protein) and positivity for p53.
|
23374397 |
2013 |
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 114 patients with confirmed ACC evaluated in the University of Michigan Endocrine Oncology Clinic were prospectively offered genetic counseling and TP53 genetic testing, regardless of age at diagnosis or family history.
|
23175693 |
2013 |