5q-syndrome
|
0.090 |
Biomarker
|
disease |
BEFREE |
Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression.
|
19797731 |
2009 |
5q-syndrome
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
Heterozygous loss of the RPS14 gene on 5q leads to activation of p53 in the erythroid lineage and the macrocytic anemia characteristic of the 5q-syndrome.
|
21943668 |
2011 |
5q-syndrome
|
0.090 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that Len restores MDM2 functionality in the 5q- syndrome to overcome p53 activation in response to nucleolar stress, and therefore may warrant investigation in other disorders of ribosomal biogenesis.
|
22525275 |
2013 |
5q-syndrome
|
0.090 |
Biomarker
|
disease |
BEFREE |
It is now recognized that p53 activation, caused by haploinsufficiency for the ribosomal gene RPS14 (mapping to the commonly deleted region), is the probable cause of the erythroid defect in the 5q- syndrome.
|
22571696 |
2012 |
5q-syndrome
|
0.090 |
Biomarker
|
disease |
BEFREE |
L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way.
|
25098371 |
2014 |
5q-syndrome
|
0.090 |
Biomarker
|
disease |
BEFREE |
Recently, two novel mouse models have provided evidence for the involvement of both RPS14 and the p53 pathway, and specific miRNAs in 5q- syndrome.
|
20980806 |
2010 |
5q-syndrome
|
0.090 |
Biomarker
|
disease |
BEFREE |
Emerging evidence supports the notion that the p53 activation observed in the mouse model may also apply to the human 5q- syndrome.
|
20733155 |
2010 |
5q-syndrome
|
0.090 |
Biomarker
|
disease |
BEFREE |
Ribosomal protein S14 (RPS14) plays a key role in erythropoiesis and causes p53 activation in 5q- syndrome.
|
24074450 |
2014 |
5q-syndrome
|
0.090 |
AlteredExpression
|
disease |
BEFREE |
We found that p53 accumulates selectively in the erythroid lineage in primary human hematopoietic progenitor cells after expression of shRNAs targeting RPS14, the ribosomal protein gene deleted in the 5q-syndrome, or RPS19, the most commonly mutated gene in DBA.
|
21068437 |
2011 |
Abdominal Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Neuroblastoma is the most common pediatric abdominal tumor and principally a p53 wild-type, highly vascular, aggressive tumor, with limited response to anti-VEGF therapies alone.
|
21484514 |
2011 |
Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormal behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We present evidence for a specific role of p53 in the mitochondria-associated cellular dysfunction and behavioral abnormalities of Huntington's disease (HD).
|
15996546 |
2005 |
Abnormal platelet morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormal serum dehydroepiandrosterone level
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of metabolism/homeostasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of reproductive system physiology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of the fallopian tube
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of the femoral metaphysis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of the skeletal system
|
0.010 |
Biomarker
|
disease |
BEFREE |
More importantly, we show that genetic inhibition of tp53 can suppress neuroepithelial cell death and ameliorate the skeletal anomalies in polr1c and polr1d mutants, providing a potential avenue to prevent the pathogenesis of Treacher Collins syndrome.
|
27448281 |
2016 |
Abnormality of the tibial metaphysis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Abnormality of the tongue
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Abnormality of urine homeostasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abscess of peritoneum
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Achalasia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
(1.) p53 alterations, overexpression and mutational change, are an early event in patients with achalasia; (2.)
|
10757119 |
2000 |
Achalasia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We applied a fluorescence in situ hybridization technique in 20 such patients and found aneuploidies of chromosomes 7, 11, and 17 in 60% (12 of 20 specimens) and deletion of the TP53 gene in 54.5% (6 of 11 specimens; it was only possible to obtain data by FISH technique from 11 of the 20 achalasia patients).
|
15104278 |
2004 |