|
Malignant neoplasm of brain
|
0.040 |
Biomarker
|
disease |
BEFREE |
L3MBTL is highly homologous to the D-lethal(3) malignant brain tumor [D-l(3)mbt] gene, which is a putative tumor-suppressor gene (TSG) identified in Drosophila and which is closely related to the Drosophila sex combs on midleg (SCM) protein, a member of the Polycomb group (PcG) family of transcriptional repressors.
|
15334543 |
2004 |
|
Malignant neoplasm of brain
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
The lethal(3)malignant brain tumor (D-l(3)mbt) gene is considered to be one of the tumor suppressor genes of Drosophila, and its recessive mutations are associated with malignant transformation of the neuroblasts in the larval brain.
|
10445843 |
1999 |
|
Malignant neoplasm of brain
|
0.040 |
Biomarker
|
disease |
BEFREE |
H-L(3)MBT, the human homolog of the Drosophila lethal(3)malignant brain tumor protein, is a member of the polycomb group (PcG) of proteins, which function as transcriptional regulators in large protein complexes.
|
12588862 |
2003 |
|
Malignant neoplasm of brain
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lethal (3) malignant brain tumor gene (l(3)mbt) have been shown to cause ectopic expression of germline genes, including ping-pong factors.
|
28552546 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
However, five leukemia cell lines showed no L3MBTL expression, and two of the AML samples showed aberrant L3MBTL expression.
|
15334543 |
2004 |
|
Leukemia, Myelocytic, Acute
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
L3MBTL1, the human homolog of the Drosophila L(3)MBT polycomb group tumor suppressor gene, is located on chromosome 20q12, within the common deleted region identified in patients with 20q deletion-associated polycythemia vera, myelodysplastic syndrome, and acute myeloid leukemia.
|
20585043 |
2010 |
|
Polycythemia Vera
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
In addition, our results demonstrate that inactivation of L3MBTL is not a common occurrence in patients with a 20q deletion or in cytogenetically normal patients with polycythaemia vera.
|
15566354 |
2004 |
|
Polycythemia Vera
|
0.020 |
Biomarker
|
disease |
BEFREE |
Our data suggest that haploinsufficiency of L3MBTL1 contributes to some (20q-) myeloproliferative neoplasms, especially polycythemia vera, by promoting erythroid differentiation.
|
20585043 |
2010 |
|
Chronic myeloproliferative disorder
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that L3MBTL is not mutated in MDS or MPD.
|
15334543 |
2004 |
|
Chronic myeloproliferative disorder
|
0.020 |
Biomarker
|
disease |
BEFREE |
In addition to mutation, alterations in the expression or activity of chromatin-modifying/reading proteins PRMT5 and L3MBTL1 have been found to be important in MPN development.
|
22170482 |
2012 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Both L3MBTL1 and SET domain-containing protein 8 were upregulated in the central nervous systems of mouse models of amyotrophic lateral sclerosis and human patients with amyotrophic lateral sclerosis/frontotemporal dementia.
|
31061493 |
2019 |
|
Malignant neoplasm of breast
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Further analyses of tumor features among patients indicated that high expression of L3MBTL1 was associated with low grade and hormone receptor-positive tumors, as well as low risk of disease recurrence and breast cancer death.
|
21837478 |
2012 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our results revealed that the three RNAs-based biomarker network (long non-coding intergenic RNA-[lncRNA RP11-909B2.1], Homo sapiens microRNA-595 [hsa-miRNA-595], and L3MBTL1 mRNA), had high sensitivity and specificity for discriminating CRC from healthy controls and also from benign colorectal neoplasm.
|
29737552 |
2018 |
|
leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
H-L(3)MBT contains three repeats of 100 residues called MBT repeats, whose function is unknown, and a C-terminal alpha-helical structure, the SPM (SCM, PH, MBT domain, which is structurally similar to the SAM (sterile alpha motif) protein-protein interaction domain, found in several ETS transcription factors, including TEL (translocation Ets leukemia).
|
12588862 |
2003 |
|
Myeloid Leukemia
|
0.010 |
Biomarker
|
disease |
LHGDN |
To examine whether L3MBTL functions as a "classic" TSG in human hematologic malignancies, we screened a panel of 17 myeloid leukemia cell lines and peripheral blood or bone marrow samples from 29 MDS and 13 MPD patients for mutations in the entire L3MBTL coding sequence, including intron/exon splice junctions.
|
15334543 |
2004 |
|
Myeloid Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
However, given the known dosage effects of PcG proteins in regulating gene expression, reduced or absent L3MBTL expression may be relevant in some cases of myeloid leukemia.
|
15334543 |
2004 |
|
Pick Disease of the Brain
|
0.010 |
Biomarker
|
disease |
BEFREE |
Both L3MBTL1 and SET domain-containing protein 8 were upregulated in the central nervous systems of mouse models of amyotrophic lateral sclerosis and human patients with amyotrophic lateral sclerosis/frontotemporal dementia.
|
31061493 |
2019 |
|
Shwachman syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome.
|
29476317 |
2018 |
|
Frontotemporal dementia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Both L3MBTL1 and SET domain-containing protein 8 were upregulated in the central nervous systems of mouse models of amyotrophic lateral sclerosis and human patients with amyotrophic lateral sclerosis/frontotemporal dementia.
|
31061493 |
2019 |
|
Benign neoplasm of large intestine
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our results revealed that the three RNAs-based biomarker network (long non-coding intergenic RNA-[lncRNA RP11-909B2.1], Homo sapiens microRNA-595 [hsa-miRNA-595], and L3MBTL1 mRNA), had high sensitivity and specificity for discriminating CRC from healthy controls and also from benign colorectal neoplasm.
|
29737552 |
2018 |
|
Breast Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Further analyses of tumor features among patients indicated that high expression of L3MBTL1 was associated with low grade and hormone receptor-positive tumors, as well as low risk of disease recurrence and breast cancer death.
|
21837478 |
2012 |
|
Childhood Leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
H-L(3)MBT contains three repeats of 100 residues called MBT repeats, whose function is unknown, and a C-terminal alpha-helical structure, the SPM (SCM, PH, MBT domain, which is structurally similar to the SAM (sterile alpha motif) protein-protein interaction domain, found in several ETS transcription factors, including TEL (translocation Ets leukemia).
|
12588862 |
2003 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
L3MBTL1 is a human homolog of the Drosophila polycomb L(3)MBT tumor suppressor protein and thus a candidate tumor suppressor in del(20q12) myeloid disorders.
|
21149733 |
2010 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Here, we have meta-analyzed gene expression profiles of the human orthologs of Drosophila melanogaster germline genes that are ectopically expressed in l(3)mbt brain tumors using gene expression datasets derived from a large cohort of human tumors.
|
24243547 |
2014 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
L3MBTL represents a strong candidate tumour suppressor gene since it lies within the common deleted region, is a member of the Polycomb-like family, encodes the human homologue of a Drosophila tumour suppressor and is expressed within haematopoietic progenitor cells.
|
15566354 |
2004 |