|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In vitro testing of RNase MRP multiprotein-specific mRNA and rRNA cleavage of different mutations revealed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell-cycle impairment, predicts the presence of hair hypoplasia, immunodeficiency, and hematological abnormalities and thus increased cancer risk.
|
17701897 |
2007 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify prognostic factors alternative or additional to P-glycoprotein (Pgp), we studied the impact of the multidrug resistance-related protein (MRP), bcl-2 (flow cytometry), mutant p53 (single-strand conformation polymorphism), and heat-shock protein 27 (HSP27, Western blotting) in myeloid blasts obtained at the time of diagnosis in patients with de novo acute myeloid leukemia (AML).
|
9808049 |
1998 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study showed that both PGP and LRP overexpression are common features in de novo ANLL at onset whereas MRP overexpression is more rare.
|
10050716 |
1999 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
As compared with normal bone marrow cells and peripheral granulocytes, an overexpression of MRP gene was found in 24% (22 of 91) cases of de novo AML.
|
7564506 |
1995 |
|
Leukemia, Myelocytic, Acute
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For investigation of relative differences in mRNA expression levels and of correlations in the expression of genes possibly involved in multidrug resistance (MDR) of acute myelogenous leukemias (AML), a complementary DNA polymerase chain reaction (cDNA-PCR) analysis was established for the genes encoding MDR1/P-glycoprotein, the multidrug resistance-associated protein (MRP), topoisomerase II alpha, topoisomerase II beta, topoisomerase I, glutathione S-transferase pi, protein kinase C (PKC) isozymes alpha, beta 1, beta 2, epsilon, eta, theta and cyclin A.
|
8642857 |
1996 |
|
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In vitro testing of RNase MRP multiprotein-specific mRNA and rRNA cleavage of different mutations revealed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell-cycle impairment, predicts the presence of hair hypoplasia, immunodeficiency, and hematological abnormalities and thus increased cancer risk.
|
17701897 |
2007 |
|
Malignant neoplasm of lung
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
To this end, we took advantage of the fact that the overexpression of MDR1 and MRP genes, two genes known to be associated with the development of drug resistance, is very common in lung cancer.
|
9713512 |
1998 |
|
Heart failure
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We have further investigated the muscle LIM protein knockout model of HF (MLP-/-), which closely parallels human dilated cardiomyopathy disease progression and aberrant beta-adrenergic signaling, and their betaARKct rescue.
|
17971502 |
2008 |
|
Congestive heart failure
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We have further investigated the muscle LIM protein knockout model of HF (MLP-/-), which closely parallels human dilated cardiomyopathy disease progression and aberrant beta-adrenergic signaling, and their betaARKct rescue.
|
17971502 |
2008 |
|
leukemia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
These findings provide important insight into the biology of inversion 16 leukaemia and suggest that MRP deletion, as detected by molecular analysis, may have a key role in determining outcome in patients with inversion 16 AML.
|
7911871 |
1994 |
|
Carcinoma of lung
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
To this end, we took advantage of the fact that the overexpression of MDR1 and MRP genes, two genes known to be associated with the development of drug resistance, is very common in lung cancer.
|
9713512 |
1998 |
|
Primary malignant neoplasm of lung
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
To this end, we took advantage of the fact that the overexpression of MDR1 and MRP genes, two genes known to be associated with the development of drug resistance, is very common in lung cancer.
|
9713512 |
1998 |
|
Cartilage-hair hypoplasia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genomic locus for MRP RNA cause pleiotropic human diseases, including cartilage hair hypoplasia (CHH).
|
28115465 |
2017 |
|
Cartilage-hair hypoplasia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2.
|
24009312 |
2014 |
|
Cartilage-hair hypoplasia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
In this review article we will, after describing the biochemical aspects of RNase MRP, discuss the targeting of RNase MRP in autoimmunity and the role of mutations in the RNase MRP RNA gene in CHH.
|
21956908 |
2012 |
|
Cartilage-hair hypoplasia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Pleiotropic, recessively inherited cartilage-hair hypoplasia (CHH) is due to mutations in the untranslated RMRP gene on chromosome 9p13-p12 encoding the RNA component of RNase MRP endoribonuclease.
|
12107819 |
2002 |
|
Cartilage-hair hypoplasia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Our data are the first to provide insight into the molecular mechanism by which CHH-associated mutations affect the function of RNase MRP.
|
18164267 |
2008 |
|
Cardiomyopathy, Familial Idiopathic
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Seven patients with a MLP-mutation were found to harbor the DCM-associated, functionally characterized W4R mutation.
|
16352453 |
2006 |
|
Cardiomyopathy, Familial Idiopathic
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
In support of this hypothesis, we have investigated the ultrastructure of the ID in mouse hearts from control and dilated cardiomyopathy (DCM) models, the MLP-null and a cardiac-specific β-catenin mutant, cΔex3, as well as in human left ventricle from normal and DCM samples.
|
23708682 |
2014 |
|
Cardiomyopathy, Familial Idiopathic
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Muscle LIM protein (MLP, CSRP3) is a key regulator of striated muscle function, and its mutations can lead to both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in patients.
|
31406109 |
2019 |
|
Cardiomyopathy, Dilated
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Muscle LIM protein (MLP, CSRP3) is a key regulator of striated muscle function, and its mutations can lead to both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in patients.
|
31406109 |
2019 |
|
Chronic Lymphocytic Leukemia
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Expression of the multidrug resistance-associated protein (mrp) gene in chronic lymphocytic leukemia.
|
11908721 |
2002 |
|
Azoospermia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To provide better insight into the relationship among the expression behavior in vivo of the three genes in human testis, analysis of MDR1 and MRP gene expression in testicular biopsies was performed and related to the presence of CFTR gene mutations in congenital absence of the vas deferens (CAVD: n = 20) and non-CAVD (n = 30) infertile patients with azoospermia or severe oligozoospermia.
|
11466205 |
2001 |
|
Cystic Fibrosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Besides its antiinflammatory and antimicrobial activities, one possibility could be the overexpression induction of the multidrug resistance-associated protein (MRP), which could affect chloride transport, thus overcoming the ion transport defect of cystic fibrosis.
|
16167518 |
2005 |
|
Jaundice, Chronic Idiopathic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome.
|
8621134 |
1996 |